GlyCosmos Portal

GlyCosmos Genes

Integrated list of glycan-related genes extracted KEGG GENES Database, UniProt, GlycoGene Database (GGDB), Plant GARDEN and FlyGlycoDB. Glycan-related genes including glycosyltransferase, hydrolase activity (acting on glycosyl bonds), carbohydrate metabolic process, etc .

Source	Last Updated
FlyGlycoDB	March 25, 2024
GlycoGene Database (GGDB)	January 26, 2018
KEGG GENES Database	September 20, 2023
Plant GARDEN	May 28, 2020
UniProt	October 29, 2024

Selecting the function you want to look up from the categories displays a list narrowed down to glycan-related genes with that function (Gene Ontology).

Catalytic activity

glycosyltransferase activity

hydrolase activity, acting on glycosyl bonds

Binding

carbohydrate binding

Response to carbohydrate

Primary metabolic process

Displaying entries **1 - 25** of **9988** in total

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Gene ID	Gene Name	Gene Symbol	Organism	Taxonomy ID	Disease Ontology ▲	Disease Ontology ID	Gene Ontology	Gene Ontology ID
3293	hydroxysteroid 17-beta dehydrogenase 3	HSD17B3 Aliases: SDR12C2 short chain dehydrogenase/reductase family 12C, member 2	Homo sapiens (human)	9606	17-beta hydroxysteroid dehydrogenase 3 deficiency Alzheimer's disease Kallmann syndrome Sheehan syndrome acne androgen insensitivity syndrome autoimmune hepatitis cancer congenital adrenal hyperplasia congenital hypothyroidism cryptorchidism diabetes mellitus disorder of sexual development endometriosis of uterus endometriosis gynecomastia hepatitis hermaphroditism hypertrophy of breast hypogonadism hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism 12 with or without anosmia hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism hypopituitarism hypospadias hypothyroidism infant gynecomastia infertility isolated growth hormone deficiency type IA isolated growth hormone deficiency type IB isolated growth hormone deficiency type II isolated growth hormone deficiency type III isolated growth hormone deficiency myxedema nicotine dependence nodular prostate obesity panhypopituitarism premature menopause prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism type 2 diabetes mellitus	DOID:0050328 DOID:0050742 DOID:0050811 DOID:0060870 DOID:0060872 DOID:0060873 DOID:0060874 DOID:0060875 DOID:0090070 DOID:0090071 DOID:0090072 DOID:0090073 DOID:0090074 DOID:0090076 DOID:0090077 DOID:0090078 DOID:0090079 DOID:0090080 DOID:0090081 DOID:0090082 DOID:0090083 DOID:0090084 DOID:0090085 DOID:0090086 DOID:0090087 DOID:0090089 DOID:0090090 DOID:0090091 DOID:0090092 DOID:0090093 DOID:0090094 DOID:0112248 DOID:10283 DOID:10286 DOID:10652 DOID:10688 DOID:10787 DOID:10892 DOID:11383 DOID:11603 DOID:11634 DOID:12698 DOID:13206 DOID:1459 DOID:162 DOID:1923 DOID:1924 DOID:2048 DOID:2237 DOID:288 DOID:2883 DOID:289 DOID:3614 DOID:3763 DOID:3765 DOID:4674 DOID:5223 DOID:6543 DOID:9351 DOID:9352 DOID:9406 DOID:9410 DOID:9476 DOID:9970	17-beta-hydroxysteroid dehydrogenase (NADP+) activity anatomical structure development androgen biosynthetic process androgen metabolic process animal organ development binding biological regulation biological_process biosynthetic process catalytic activity cellular anatomical entity cellular biosynthetic process cellular ketone metabolic process cellular metabolic process cellular process cellular_component developmental process involved in reproduction developmental process endoplasmic reticulum membrane endoplasmic reticulum estradiol 17-beta-dehydrogenase [NAD(P)] activity genitalia development hormone biosynthetic process hormone metabolic process intracellular membrane-bounded organelle intracellular organelle ketone biosynthetic process lipid biosynthetic process lipid metabolic process male genitalia development membrane-bounded organelle membrane metabolic process molecular_function olefinic compound biosynthetic process olefinic compound metabolic process organelle membrane organelle organic cyclic compound biosynthetic process organic cyclic compound metabolic process organic hydroxy compound biosynthetic process organic hydroxy compound metabolic process organic substance biosynthetic process organic substance metabolic process oxidoreductase activity, acting on CH-OH group of donors oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor oxidoreductase activity primary metabolic process protein binding regulation of biological quality regulation of hormone levels reproductive process reproductive structure development reproductive system development small molecule biosynthetic process small molecule metabolic process steroid biosynthetic process steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor steroid dehydrogenase activity steroid hormone biosynthetic process steroid metabolic process system development testosterone 17-beta-dehydrogenase (NADP+) activity testosterone biosynthetic process testosterone dehydrogenase [NAD(P)] activity	GO:0003006 GO:0003674 GO:0003824 GO:0004303 GO:0005488 GO:0005515 GO:0005575 GO:0005783 GO:0005789 GO:0006629 GO:0006694 GO:0006702 GO:0008150 GO:0008152 GO:0008202 GO:0008209 GO:0008610 GO:0009058 GO:0009987 GO:0010817 GO:0016020 GO:0016229 GO:0016491 GO:0016614 GO:0016616 GO:0022414 GO:0030283 GO:0030539 GO:0031090 GO:0032502 GO:0033764 GO:0042180 GO:0042181 GO:0042445 GO:0042446 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0044237 GO:0044238 GO:0044249 GO:0044281 GO:0044283 GO:0047045 GO:0048513 GO:0048608 GO:0048731 GO:0048806 GO:0048856 GO:0061370 GO:0061458 GO:0065007 GO:0065008 GO:0071704 GO:0072582 GO:0110165 GO:0120178 GO:0120254 GO:0120255 GO:1901360 GO:1901362 GO:1901576 GO:1901615 GO:1901617
55526	dehydrogenase E1 and transketolase domain containing 1	DHTKD1	Homo sapiens (human)	9606	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q	DOID:0110170 DOID:0111453	ADP catabolic process ADP metabolic process ATP metabolic process anion binding aromatic compound catabolic process binding biological_process carbohydrate catabolic process carbohydrate derivative catabolic process carbohydrate derivative metabolic process carbohydrate metabolic process carboxylic acid metabolic process catabolic process catalytic activity cation binding cell differentiation cellular anatomical entity cellular aromatic compound metabolic process cellular catabolic process cellular developmental process cellular metabolic process cellular nitrogen compound catabolic process cellular nitrogen compound metabolic process cellular process cellular_component developmental process generation of precursor metabolites and energy glycolytic process hematopoietic progenitor cell differentiation heterocycle catabolic process heterocycle metabolic process heterocyclic compound binding intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle ion binding membrane-bounded organelle membrane-enclosed lumen metabolic process mitochondrial matrix mitochondrion molecular_function monocarboxylic acid metabolic process nicotinamide nucleotide metabolic process nitrogen compound metabolic process nucleobase-containing compound catabolic process nucleobase-containing compound metabolic process nucleobase-containing small molecule metabolic process nucleoside diphosphate catabolic process nucleoside diphosphate metabolic process nucleoside phosphate catabolic process nucleoside phosphate metabolic process nucleoside triphosphate metabolic process nucleotide catabolic process nucleotide metabolic process organelle lumen organelle organic acid metabolic process organic cyclic compound binding organic cyclic compound catabolic process organic cyclic compound metabolic process organic substance catabolic process organic substance metabolic process organonitrogen compound catabolic process organonitrogen compound metabolic process organophosphate catabolic process organophosphate metabolic process oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor oxidoreductase activity, acting on the aldehyde or oxo group of donors oxidoreductase activity oxoacid metabolic process oxoglutarate dehydrogenase (succinyl-transferring) activity phosphate-containing compound metabolic process phosphorus metabolic process primary metabolic process protein binding purine nucleoside diphosphate catabolic process purine nucleoside diphosphate metabolic process purine nucleoside triphosphate metabolic process purine nucleotide catabolic process purine nucleotide metabolic process purine ribonucleoside diphosphate catabolic process purine ribonucleoside diphosphate metabolic process purine ribonucleoside triphosphate metabolic process purine ribonucleotide catabolic process purine ribonucleotide metabolic process purine-containing compound catabolic process purine-containing compound metabolic process pyridine nucleotide catabolic process pyridine nucleotide metabolic process pyridine-containing compound catabolic process pyridine-containing compound metabolic process pyruvate metabolic process quaternary ammonium group binding ribonucleoside diphosphate catabolic process ribonucleoside diphosphate metabolic process ribonucleoside triphosphate metabolic process ribonucleotide catabolic process ribonucleotide metabolic process ribose phosphate metabolic process small molecule binding small molecule metabolic process sulfur compound binding thiamine pyrophosphate binding vitamin binding	GO:0002244 GO:0003674 GO:0003824 GO:0004591 GO:0005488 GO:0005515 GO:0005575 GO:0005739 GO:0005759 GO:0005975 GO:0006082 GO:0006090 GO:0006091 GO:0006096 GO:0006139 GO:0006163 GO:0006195 GO:0006725 GO:0006753 GO:0006793 GO:0006796 GO:0006807 GO:0008150 GO:0008152 GO:0009056 GO:0009117 GO:0009132 GO:0009134 GO:0009135 GO:0009137 GO:0009141 GO:0009144 GO:0009150 GO:0009154 GO:0009166 GO:0009179 GO:0009181 GO:0009185 GO:0009191 GO:0009199 GO:0009205 GO:0009259 GO:0009261 GO:0009987 GO:0016052 GO:0016491 GO:0016624 GO:0016903 GO:0019362 GO:0019364 GO:0019439 GO:0019637 GO:0019693 GO:0019752 GO:0019842 GO:0030154 GO:0030976 GO:0031974 GO:0032502 GO:0032787 GO:0034641 GO:0034655 GO:0036094 GO:0043167 GO:0043168 GO:0043169 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0043233 GO:0043436 GO:0044237 GO:0044238 GO:0044248 GO:0044270 GO:0044281 GO:0046031 GO:0046032 GO:0046034 GO:0046434 GO:0046483 GO:0046496 GO:0046700 GO:0048869 GO:0050997 GO:0055086 GO:0070013 GO:0071704 GO:0072521 GO:0072523 GO:0072524 GO:0072526 GO:0097159 GO:0110165 GO:1901135 GO:1901136 GO:1901292 GO:1901360 GO:1901361 GO:1901363 GO:1901564 GO:1901565 GO:1901575 GO:1901681
3418	isocitrate dehydrogenase (NADP(+)) 2	IDH2 Aliases: IDH-2	Homo sapiens (human)	9606	2-hydroxyglutaric aciduria Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Balo concentric sclerosis Burkitt lymphoma Cenani-Lenz syndactyly syndrome Chediak-Higashi syndrome D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria Duchenne muscular dystrophy Keshan disease Langerhans-cell histiocytosis Laron syndrome Maffucci syndrome Marinesco-Sjogren syndrome Ollier disease Pelger-Huet anomaly Peutz-Jeghers syndrome Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia T-cell adult acute lymphocytic leukemia achondroplasia acoustic neuroma acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adenocarcinoma adenoma adrenal cortex cancer adrenal gland cancer adrenoleukodystrophy adult acute lymphocytic leukemia adult astrocytic tumor adult lymphoma adult medulloblastoma adult oligodendroglioma alpha thalassemia-X-linked intellectual disability syndrome anaplastic astrocytoma anemia angioimmunoblastic T-cell lymphoma angiokeratoma aortic valve insufficiency aromatase excess syndrome arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy atherosclerosis atypical chronic myeloid leukemia, BCR-ABL1 negative autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy benign ependymoma benign mastocytoma bile duct adenocarcinoma bile duct cancer bile duct carcinoma biliary tract cancer bipolar disorder bone cancer bone giant cell tumor bone marrow cancer bone osteosarcoma bone remodeling disease brain cancer brain stem glioma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cardiomyopathy cardiovascular system disease cavernous hemangioma cellular ependymoma central nervous system cancer central nervous system disease central nervous system lymphoma cerebral degeneration cerebral palsy cherubism childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood astrocytic tumor childhood cerebral astrocytoma childhood leukemia childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood pilocytic astrocytoma cholangiocarcinoma chondroblastoma chondroma chondrosarcoma chorioangioma chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic ulcer of skin colitis colorectal cancer colorectal carcinoma cone-rod dystrophy congenital muscular dystrophy coronary artery disease cranial nerve disease cranial nerve palsy cribriform carcinoma degenerative disc disease demyelinating polyneuropathy diffuse infiltrative lymphocytosis syndrome diffuse large B-cell lymphoma disease of metabolism distal arthrogryposis distal myopathy duodenum cancer embryoma embryonal cancer endomyocardial fibrosis epilepsy epithelioid sarcoma esophagus squamous cell carcinoma essential hypertension essential thrombocythemia exanthem exostosis extracutaneous mastocytoma facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial retinoblastoma fibrillary astrocytoma focal epilepsy fundus albipunctatus ganglioglioma gastroenteritis gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer germinoma giant cell glioblastoma glioblastoma gliosarcoma glomus tumor goiter granular cell carcinoma head and neck squamous cell carcinoma heart cancer heart disease hemangioma hematologic cancer hematopoietic system disease hemiplegia hepatocellular carcinoma hepatocellular clear cell carcinoma hereditary multiple exostoses hidradenitis suppurativa hidradenitis high grade glioma histiocytoid hemangioma hydronephrosis hypertension hypertrophic cardiomyopathy ileitis ileocolitis indolent systemic mastocytosis inflammatory bowel disease inflammatory breast carcinoma inflammatory liposarcoma intellectual disability intrahepatic cholangiocarcinoma intramuscular hemangioma juvenile pilocytic astrocytoma kidney failure large intestine cancer learning disability leukemia limb-girdle muscular dystrophy liver cancer liver carcinoma luminal breast carcinoma A lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung squamous cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma macrocytic anemia malignant astrocytoma malignant fibrous histiocytoma mast cell neoplasm mastocytosis medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma mixed glioma mixed oligodendroglioma-astrocytoma mononeuritis multiplex mononeuropathy multiple myeloma muscular dystrophy myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myofibrillar myopathy 1 myofibrillar myopathy 3 myxopapillary ependymoma narcolepsy nervous system disease neurodegenerative disease neuroendocrine carcinoma neurofibromatosis 1 neurofibromatosis neuropathy non-Hodgkin lymphoma nontoxic goiter obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete ymphosarcoma oculopharyngeal muscular dystrophy olfactory neuroblastoma oligodendroglioma osteoarthritis osteoporosis osteosarcoma ovarian cancer ovarian carcinoma papillary carcinoma papillary ependymoma paraganglioma parathyroid adenoma parathyroid carcinoma partial motor epilepsy periarthritis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma plasmacytoma pleomorphic xanthoastrocytoma polycythemia vera polycythemia polyneuropathy pompholyx primary cerebellar degeneration prostate cancer prostate carcinoma protoplasmic astrocytoma pulmonary large cell neuroendocrine carcinoma reflex sympathetic dystrophy reticulosarcoma retinitis pigmentosa retinoblastoma rippling muscle disease 2 sarcoma sarcomatoid carcinoma sclerosing liposarcoma scoliosis sensorineural hearing loss skin melanoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell hemangioma spindle cell sarcoma status epilepticus steatotic liver disease stomach cancer stomach carcinoma subependymal giant cell astrocytoma tanycytic ependymoma telangiectatic osteogenic sarcoma tendinitis thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma transitional cell carcinoma trilateral retinoblastoma tubular adenocarcinoma uremia urticaria pigmentosa visual epilepsy von Hippel-Lindau disease vulvar dystrophy well-differentiated liposarcoma	DOID:0014667 DOID:0050083 DOID:0050486 DOID:0050557 DOID:0050572 DOID:0050573 DOID:0050575 DOID:0050589 DOID:0050646 DOID:0050700 DOID:0050745 DOID:0050749 DOID:0050771 DOID:0050773 DOID:0050902 DOID:0050908 DOID:0060058 DOID:0060060 DOID:0060180 DOID:0060189 DOID:0060190 DOID:0060215 DOID:0060221 DOID:0060249 DOID:0060255 DOID:0060318 DOID:0060548 DOID:0060597 DOID:0070247 DOID:0070323 DOID:0080005 DOID:0080092 DOID:0080094 DOID:0080144 DOID:0080147 DOID:0080195 DOID:0080199 DOID:0080326 DOID:0080348 DOID:0080522 DOID:0090015 DOID:0090122 DOID:0110030 DOID:0110035 DOID:0110037 DOID:0110038 DOID:0110039 DOID:0110041 DOID:0110043 DOID:0110044 DOID:0110045 DOID:0110046 DOID:0110047 DOID:0110048 DOID:0110273 DOID:0110274 DOID:0110275 DOID:0110276 DOID:0110277 DOID:0110278 DOID:0110279 DOID:0110280 DOID:0110281 DOID:0110282 DOID:0110283 DOID:0110284 DOID:0110285 DOID:0110286 DOID:0110287 DOID:0110289 DOID:0110292 DOID:0110293 DOID:0110294 DOID:0110295 DOID:0110296 DOID:0110297 DOID:0110298 DOID:0110299 DOID:0110300 DOID:0110301 DOID:0110302 DOID:0110303 DOID:0110304 DOID:0110305 DOID:0110306 DOID:0111147 DOID:0111253 DOID:0111351 DOID:0111352 DOID:10003 DOID:10021 DOID:10154 DOID:10283 DOID:10286 DOID:1037 DOID:1040 DOID:10534 DOID:10584 DOID:10588 DOID:1059 DOID:10652 DOID:1074 DOID:10763 DOID:10825 DOID:10965 DOID:10968 DOID:10969 DOID:10970 DOID:11105 DOID:11111 DOID:1115 DOID:114 DOID:11476 DOID:117 DOID:11719 DOID:11720 DOID:11723 DOID:11724 DOID:11727 DOID:11832 DOID:11870 DOID:1188 DOID:11984 DOID:12176 DOID:12309 DOID:1240 DOID:12603 DOID:12689 DOID:1287 DOID:1289 DOID:12932 DOID:1319 DOID:13195 DOID:1324 DOID:1325 DOID:1389 DOID:14175 DOID:14292 DOID:1443 DOID:14525 DOID:1475 DOID:1540 DOID:1612 DOID:162 DOID:1703 DOID:1781 DOID:1785 DOID:1800 DOID:1811 DOID:1824 DOID:1826 DOID:1835 DOID:184 DOID:1856 DOID:1907 DOID:1909 DOID:1936 DOID:1969 DOID:203 DOID:206 DOID:2224 DOID:2226 DOID:2234 DOID:2280 DOID:2282 DOID:2326 DOID:2348 DOID:2349 DOID:2355 DOID:2361 DOID:2394 DOID:2431 DOID:2452 DOID:2531 DOID:255 DOID:2571 DOID:2602 DOID:2649 DOID:2671 DOID:277 DOID:2891 DOID:2935 DOID:2964 DOID:299 DOID:2994 DOID:305 DOID:3068 DOID:3069 DOID:3070 DOID:3071 DOID:3074 DOID:3076 DOID:3078 DOID:3079 DOID:3095 DOID:3113 DOID:3181 DOID:3183 DOID:3186 DOID:3234 DOID:3304 DOID:331 DOID:3312 DOID:3327 DOID:3347 DOID:3361 DOID:3371 DOID:3376 DOID:3393 DOID:3459 DOID:350 DOID:3565 DOID:3571 DOID:3620 DOID:3664 DOID:3683 DOID:369 DOID:3721 DOID:3748 DOID:381 DOID:3817 DOID:3829 DOID:3852 DOID:3861 DOID:3864 DOID:3868 DOID:3869 DOID:3904 DOID:3905 DOID:3907 DOID:3908 DOID:3910 DOID:3953 DOID:3962 DOID:3963 DOID:4001 DOID:4015 DOID:4202 DOID:4235 DOID:4305 DOID:4480 DOID:4606 DOID:4607 DOID:4624 DOID:4647 DOID:4648 DOID:4658 DOID:4659 DOID:4660 DOID:4676 DOID:468 DOID:474 DOID:4766 DOID:479 DOID:483 DOID:4844 DOID:4851 DOID:4852 DOID:4896 DOID:4897 DOID:4903 DOID:4916 DOID:4928 DOID:4929 DOID:4947 DOID:496 DOID:4960 DOID:4971 DOID:50 DOID:5016 DOID:5075 DOID:5076 DOID:5077 DOID:5078 DOID:5162 DOID:5214 DOID:5500 DOID:5504 DOID:5505 DOID:5517 DOID:5520 DOID:5602 DOID:5603 DOID:5604 DOID:5656 DOID:5672 DOID:5675 DOID:5690 DOID:57 DOID:5704 DOID:574 DOID:5823 DOID:5825 DOID:6193 DOID:6263 DOID:657 DOID:660 DOID:6658 DOID:6677 DOID:6726 DOID:6811 DOID:6812 DOID:684 DOID:686 DOID:688 DOID:6951 DOID:7005 DOID:7007 DOID:7008 DOID:707 DOID:74 DOID:7608 DOID:768 DOID:7757 DOID:7912 DOID:8233 DOID:8398 DOID:8432 DOID:848 DOID:8538 DOID:8549 DOID:8552 DOID:8584 DOID:8593 DOID:863 DOID:8675 DOID:8692 DOID:870 DOID:8712 DOID:8864 DOID:8923 DOID:8927 DOID:8986 DOID:8997 DOID:90 DOID:9119 DOID:9230 DOID:9256 DOID:9277 DOID:9452 DOID:9521 DOID:9538 DOID:9631 DOID:971 DOID:9884 DOID:9952 DOID:9953	2-oxoglutarate metabolic process NAD binding NADP metabolic process adenyl nucleotide binding alcohol metabolic process binding biological_process carbohydrate metabolic process carboxylic acid metabolic process catalytic activity cation binding cellular aldehyde metabolic process cellular anatomical entity cellular aromatic compound metabolic process cellular metabolic process cellular nitrogen compound metabolic process cellular process cellular_component cytosol dicarboxylic acid metabolic process extracellular exosome extracellular membrane-bounded organelle extracellular organelle extracellular vesicle glyoxylate cycle glyoxylate metabolic process heterocycle metabolic process heterocyclic compound binding intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle ion binding isocitrate dehydrogenase (NADP+) activity isocitrate dehydrogenase [NAD(P)+] activity isocitrate metabolic process magnesium ion binding membrane-bounded organelle membrane-enclosed lumen metabolic process metal ion binding microbody mitochondrial matrix mitochondrion molecular_function monocarboxylic acid metabolic process nicotinamide nucleotide metabolic process nitrogen compound metabolic process nucleobase-containing compound metabolic process nucleobase-containing small molecule metabolic process nucleoside phosphate binding nucleoside phosphate metabolic process nucleotide binding nucleotide metabolic process organelle lumen organelle organic acid metabolic process organic cyclic compound binding organic cyclic compound metabolic process organic hydroxy compound metabolic process organic substance metabolic process organonitrogen compound metabolic process organophosphate metabolic process oxidoreductase activity, acting on CH-OH group of donors oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor oxidoreductase activity oxoacid metabolic process peroxisome phosphate-containing compound metabolic process phosphorus metabolic process primary metabolic process purine nucleotide binding purine nucleotide metabolic process purine-containing compound metabolic process pyridine nucleotide metabolic process pyridine-containing compound metabolic process secondary alcohol metabolic process small molecule binding small molecule metabolic process tricarboxylic acid cycle tricarboxylic acid metabolic process vesicle	GO:0000166 GO:0000287 GO:0003674 GO:0003824 GO:0004448 GO:0004450 GO:0005488 GO:0005575 GO:0005739 GO:0005759 GO:0005777 GO:0005829 GO:0005975 GO:0006066 GO:0006081 GO:0006082 GO:0006097 GO:0006099 GO:0006102 GO:0006103 GO:0006139 GO:0006163 GO:0006725 GO:0006739 GO:0006753 GO:0006793 GO:0006796 GO:0006807 GO:0008150 GO:0008152 GO:0009117 GO:0009987 GO:0016491 GO:0016614 GO:0016616 GO:0017076 GO:0019362 GO:0019637 GO:0019752 GO:0030554 GO:0031974 GO:0031982 GO:0032787 GO:0034641 GO:0036094 GO:0042579 GO:0043167 GO:0043169 GO:0043226 GO:0043227 GO:0043229 GO:0043230 GO:0043231 GO:0043233 GO:0043436 GO:0043648 GO:0044237 GO:0044238 GO:0044281 GO:0046483 GO:0046487 GO:0046496 GO:0046872 GO:0051287 GO:0055086 GO:0065010 GO:0070013 GO:0070062 GO:0071704 GO:0072350 GO:0072521 GO:0072524 GO:0097159 GO:0110165 GO:1901265 GO:1901360 GO:1901363 GO:1901564 GO:1901615 GO:1902652 GO:1903561
3417	isocitrate dehydrogenase (NADP(+)) 1	IDH1	Homo sapiens (human)	9606	2-hydroxyglutaric aciduria Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease B-cell lymphoma Cenani-Lenz syndactyly syndrome Chediak-Higashi syndrome Crohn's colitis Crohn's disease D-2-hydroxyglutaric aciduria Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Langerhans-cell histiocytosis Laron syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Maffucci syndrome Marfan syndrome Nijmegen breakage syndrome Ollier disease Pelger-Huet anomaly Pick's disease Reye syndrome Richter's syndrome T-cell acute lymphoblastic leukemia achondroplasia acoustic neuroma acquired immunodeficiency syndrome acute biphenotypic leukemia acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia acute promyelocytic leukemia adamantinous craniopharyngioma adenocarcinoma adenoid cystic carcinoma adenoma adrenal cortex cancer adrenal gland cancer adult acute lymphocytic leukemia adult astrocytic tumor adult fibrosarcoma adult lymphoma adult medulloblastoma adult oligodendroglioma alpha thalassemia-X-linked intellectual disability syndrome anaplastic astrocytoma anemia angioimmunoblastic T-cell lymphoma angiokeratoma aortic valve insufficiency aromatase excess syndrome astroblastoma ataxia with oculomotor apraxia type 1 atypical chronic myeloid leukemia, BCR-ABL1 negative autoimmune disease benign ependymoma benign giant cell tumor bile duct adenocarcinoma bile duct carcinoma biliary tract cancer bipolar disorder bladder urothelial carcinoma bone cancer bone marrow cancer bone osteosarcoma brain cancer brain stem glioma breast adenocarcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma cataract 4 multiple types cavernous hemangioma cellular ependymoma central nervous system cancer central nervous system lymphoma central neurocytoma cerebellar liponeurocytoma cerebral degeneration cerebral palsy cherubism childhood acute lymphocytic leukemia childhood acute myeloid leukemia childhood astrocytic tumor childhood cerebral astrocytoma childhood ependymoma childhood leukemia childhood lymphoma childhood medulloblastoma childhood oligodendroglioma childhood osteosarcoma childhood pilocytic astrocytoma cholangiocarcinoma cholangiolocellular carcinoma chondroblastic osteosarcoma chondroma chondrosarcoma chordoma chorioangioma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic monocytic leukemia chronic myeloid leukemia chronic ulcer of skin clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma connective tissue benign neoplasm cranial nerve disease cranial nerve palsy craniopharyngioma cribriform carcinoma degenerative disc disease dementia demyelinating polyneuropathy diffuse infiltrative lymphocytosis syndrome diffuse large B-cell lymphoma dilated cardiomyopathy 1A dilated cardiomyopathy disease of mental health disease of metabolism distal arthrogryposis duodenum cancer dysembryoplastic neuroepithelial tumor dysplastic nevus syndrome embryoma embryonal cancer endometrial cancer endometrial carcinoma epilepsy epithelioid sarcoma esophagus squamous cell carcinoma essential thrombocythemia exanthem exostosis familial retinoblastoma fibrillary astrocytoma fibrosarcoma follicular adenoma gallbladder cancer gallbladder carcinoma ganglioglioma gastrointestinal system cancer gemistocytic astrocytoma germ cell and embryonal cancer germ cell cancer giant cell glioblastoma glioblastoma gliomatosis cerebri gliosarcoma glomus tumor goiter granular cell carcinoma heart cancer hemangioma hematologic cancer hemiplegia hepatocellular carcinoma hepatocellular clear cell carcinoma hereditary multiple exostoses hidradenitis suppurativa hidradenitis high grade glioma histiocytoid hemangioma human immunodeficiency virus infectious disease inflammatory bowel disease 1 inflammatory bowel disease inflammatory liposarcoma intellectual disability intrahepatic cholangiocarcinoma intramuscular hemangioma invasive ductal carcinoma invasive lobular carcinoma juvenile pilocytic astrocytoma kidney cancer large intestine cancer learning disability leukemia liver cancer liver carcinoma liver cirrhosis lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung small cell carcinoma lung squamous cell carcinoma lymphangioma lymphoblastic lymphoma lymphoid leukemia lymphoma macrocytic anemia malignant astrocytoma malignant fibrous histiocytoma medulloblastoma medullomyoblastoma melanoma melanotic medulloblastoma meningioma microcystic adenoma microphthalmia mixed glioma mixed oligodendroglioma-astrocytoma monocytic leukemia mononeuritis multiplex mononeuropathy multiple myeloma myelodysplastic syndrome myelofibrosis myeloid leukemia myeloproliferative neoplasm myxopapillary ependymoma nervous system cancer neurofibromatosis 1 neurofibromatosis neuropathy non-Hodgkin lymphoma nonpapillary renal cell carcinoma nontoxic goiter obsolete Matthew-Wood syndrome obsolete ymphosarcoma oligodendroglioma osteosarcoma ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma papillary adenocarcinoma papillary adenoma papillary craniopharyngioma papillary ependymoma papillary renal cell carcinoma paraganglioma parathyroid adenoma parathyroid carcinoma paroxysmal nocturnal hemoglobinuria patent ductus arteriosus periarthritis peripheral T-cell lymphoma peripheral nervous system disease pheochromocytoma pilocytic astrocytoma of cerebellum pilocytic astrocytoma pituitary adenoma pituitary cancer pituitary carcinoma plasmacytoma pleomorphic xanthoastrocytoma polycythemia vera polycythemia polyneuropathy pompholyx primary immunodeficiency disease prostate adenocarcinoma prostate cancer prostate carcinoma protoplasmic astrocytoma psychotic disorder renal carcinoma renal cell carcinoma respiratory failure reticulosarcoma retinoblastoma rheumatic fever salivary gland adenoid cystic carcinoma sarcoma sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing liposarcoma scoliosis situs inversus skin melanoma small intestine cancer spastic diplegia spastic monoplegia spastic quadriplegic cerebral palsy spindle cell hemangioma spindle cell sarcoma squamous cell carcinoma status epilepticus stomach cancer stomach carcinoma subependymal giant cell astrocytoma supratentorial cancer tanycytic ependymoma tendinitis thalamic neoplasm thrombophilia thyroid adenoma thyroid cancer thyroid gland anaplastic carcinoma thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma trilateral retinoblastoma tuberous sclerosis tubular adenocarcinoma ulcerative colitis uterine corpus cancer uveal melanoma vascular cancer visual epilepsy vulvar dystrophy well-differentiated liposarcoma	DOID:0014667 DOID:0050387 DOID:0050486 DOID:0050573 DOID:0050575 DOID:0050589 DOID:0050646 DOID:0050745 DOID:0050749 DOID:0050754 DOID:0050771 DOID:0050773 DOID:0050819 DOID:0050865 DOID:0050902 DOID:0050908 DOID:0060058 DOID:0060060 DOID:0060123 DOID:0060192 DOID:0060221 DOID:0060249 DOID:0060284 DOID:0060318 DOID:0060597 DOID:0070323 DOID:0080144 DOID:0080147 DOID:0080199 DOID:0080202 DOID:0080348 DOID:0080522 DOID:0090015 DOID:0090103 DOID:0090104 DOID:0090122 DOID:0110030 DOID:0110035 DOID:0110037 DOID:0110038 DOID:0110039 DOID:0110041 DOID:0110043 DOID:0110044 DOID:0110045 DOID:0110046 DOID:0110047 DOID:0110048 DOID:0110234 DOID:0110425 DOID:0110892 DOID:0111147 DOID:0111253 DOID:0111503 DOID:10021 DOID:10041 DOID:10154 DOID:10283 DOID:10286 DOID:1037 DOID:1040 DOID:10534 DOID:1059 DOID:10629 DOID:10652 DOID:10965 DOID:10968 DOID:10969 DOID:10970 DOID:1115 DOID:11162 DOID:117 DOID:11832 DOID:11870 DOID:1188 DOID:12176 DOID:1240 DOID:12603 DOID:12689 DOID:12858 DOID:12930 DOID:1307 DOID:1319 DOID:13195 DOID:1324 DOID:1325 DOID:13515 DOID:1380 DOID:13832 DOID:1389 DOID:14174 DOID:14292 DOID:14323 DOID:1443 DOID:14525 DOID:1475 DOID:150 DOID:1520 DOID:1540 DOID:1586 DOID:1612 DOID:162 DOID:1659 DOID:1703 DOID:1749 DOID:175 DOID:1781 DOID:1785 DOID:1793 DOID:1824 DOID:1826 DOID:1835 DOID:184 DOID:1856 DOID:1907 DOID:1909 DOID:1969 DOID:200 DOID:203 DOID:206 DOID:219 DOID:2224 DOID:2226 DOID:2280 DOID:2282 DOID:235 DOID:2355 DOID:2361 DOID:2394 DOID:2431 DOID:2452 DOID:2468 DOID:2526 DOID:2531 DOID:255 DOID:2571 DOID:2602 DOID:263 DOID:2679 DOID:277 DOID:2871 DOID:2891 DOID:2935 DOID:2964 DOID:299 DOID:2994 DOID:3008 DOID:3012 DOID:305 DOID:3068 DOID:3069 DOID:3070 DOID:3071 DOID:3074 DOID:3076 DOID:3078 DOID:3079 DOID:3093 DOID:3095 DOID:3112 DOID:3119 DOID:3121 DOID:3172 DOID:3181 DOID:3183 DOID:3186 DOID:3234 DOID:3302 DOID:3312 DOID:3347 DOID:3355 DOID:3361 DOID:3371 DOID:3372 DOID:3376 DOID:3457 DOID:3458 DOID:3459 DOID:3498 DOID:3516 DOID:3565 DOID:3571 DOID:3620 DOID:3683 DOID:3721 DOID:3748 DOID:3817 DOID:3829 DOID:3840 DOID:3846 DOID:3847 DOID:3861 DOID:3864 DOID:3868 DOID:3869 DOID:3904 DOID:3905 DOID:3907 DOID:3908 DOID:3910 DOID:3953 DOID:3962 DOID:3963 DOID:3969 DOID:4001 DOID:4006 DOID:4015 DOID:417 DOID:4202 DOID:4235 DOID:4450 DOID:4451 DOID:4464 DOID:4465 DOID:4467 DOID:4471 DOID:4473 DOID:4480 DOID:4607 DOID:4624 DOID:4647 DOID:4648 DOID:468 DOID:474 DOID:4766 DOID:479 DOID:483 DOID:4844 DOID:4851 DOID:4852 DOID:4853 DOID:4866 DOID:4896 DOID:4897 DOID:4903 DOID:4905 DOID:4916 DOID:4928 DOID:4929 DOID:4947 DOID:4948 DOID:496 DOID:4960 DOID:4971 DOID:50 DOID:5016 DOID:5075 DOID:5076 DOID:5077 DOID:5078 DOID:5082 DOID:5214 DOID:526 DOID:5403 DOID:5409 DOID:5500 DOID:5504 DOID:5505 DOID:5509 DOID:5517 DOID:5603 DOID:5604 DOID:5656 DOID:5672 DOID:5675 DOID:5690 DOID:57 DOID:5704 DOID:574 DOID:5823 DOID:5825 DOID:6039 DOID:6098 DOID:612 DOID:6128 DOID:6193 DOID:6204 DOID:635 DOID:6458 DOID:657 DOID:660 DOID:6677 DOID:6726 DOID:6811 DOID:6812 DOID:684 DOID:686 DOID:688 DOID:7005 DOID:7007 DOID:7008 DOID:707 DOID:7305 DOID:7400 DOID:758 DOID:7608 DOID:7642 DOID:768 DOID:7757 DOID:7912 DOID:8233 DOID:8432 DOID:8527 DOID:8538 DOID:8549 DOID:8552 DOID:8577 DOID:8593 DOID:8675 DOID:8692 DOID:870 DOID:8712 DOID:8778 DOID:8864 DOID:8923 DOID:8927 DOID:8997 DOID:90 DOID:9119 DOID:9230 DOID:9256 DOID:9460 DOID:9521 DOID:9538 DOID:9631 DOID:971 DOID:9952 DOID:9953	2-oxoglutarate metabolic process NAD binding NADP binding NADP metabolic process adenyl nucleotide binding alcohol metabolic process anatomical structure development animal organ development binding biological regulation biological_process cadherin binding carbohydrate metabolic process carboxylic acid metabolic process catalytic activity cation binding cell adhesion molecule binding cellular aldehyde metabolic process cellular anatomical entity cellular aromatic compound metabolic process cellular metabolic process cellular nitrogen compound metabolic process cellular process cellular_component cytoplasm cytoplasmic vesicle lumen cytosol developmental process involved in reproduction developmental process dicarboxylic acid metabolic process extracellular exosome extracellular membrane-bounded organelle extracellular organelle extracellular region extracellular vesicle female gonad development ficolin-1-rich granule lumen glutathione metabolic process glyoxylate cycle glyoxylate metabolic process gonad development heterocycle metabolic process heterocyclic compound binding identical protein binding intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle ion binding isocitrate dehydrogenase (NADP+) activity isocitrate dehydrogenase [NAD(P)+] activity isocitrate metabolic process magnesium ion binding membrane-bounded organelle membrane-enclosed lumen metabolic process metal ion binding microbody lumen microbody mitochondrion molecular_function monocarboxylic acid metabolic process nicotinamide nucleotide metabolic process nitrogen compound metabolic process nucleobase-containing compound metabolic process nucleobase-containing small molecule metabolic process nucleoside phosphate binding nucleoside phosphate metabolic process nucleotide binding nucleotide metabolic process organelle lumen organelle organic acid metabolic process organic cyclic compound binding organic cyclic compound metabolic process organic hydroxy compound metabolic process organic substance metabolic process organonitrogen compound metabolic process organophosphate metabolic process oxidoreductase activity, acting on CH-OH group of donors oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor oxidoreductase activity oxoacid metabolic process peroxisomal matrix peroxisome phosphate-containing compound metabolic process phosphorus metabolic process primary metabolic process protein binding protein dimerization activity protein homodimerization activity purine nucleotide binding purine nucleotide metabolic process purine-containing compound metabolic process pyridine nucleotide metabolic process pyridine-containing compound metabolic process regulation of biological process regulation of biosynthetic process regulation of catabolic process regulation of cellular catabolic process regulation of cellular metabolic process regulation of cellular process regulation of lipid biosynthetic process regulation of lipid catabolic process regulation of lipid metabolic process regulation of metabolic process regulation of phosphate metabolic process regulation of phospholipid biosynthetic process regulation of phospholipid catabolic process regulation of phospholipid metabolic process regulation of phosphorus metabolic process regulation of primary metabolic process reproductive process reproductive structure development response to chemical response to endogenous stimulus response to hormone response to lipid response to organic cyclic compound response to organic substance response to oxidative stress response to steroid hormone response to stimulus response to stress secondary alcohol metabolic process secretory granule lumen small molecule binding small molecule metabolic process tertiary granule lumen tricarboxylic acid cycle tricarboxylic acid metabolic process vesicle lumen vesicle	GO:0000166 GO:0000287 GO:0003006 GO:0003674 GO:0003824 GO:0004448 GO:0004450 GO:0005488 GO:0005515 GO:0005575 GO:0005576 GO:0005737 GO:0005739 GO:0005777 GO:0005782 GO:0005829 GO:0005975 GO:0006066 GO:0006081 GO:0006082 GO:0006097 GO:0006099 GO:0006102 GO:0006103 GO:0006139 GO:0006163 GO:0006725 GO:0006739 GO:0006749 GO:0006753 GO:0006793 GO:0006796 GO:0006807 GO:0006950 GO:0006979 GO:0008150 GO:0008152 GO:0008406 GO:0008585 GO:0009117 GO:0009719 GO:0009725 GO:0009889 GO:0009894 GO:0009987 GO:0010033 GO:0014070 GO:0016491 GO:0016614 GO:0016616 GO:0017076 GO:0019216 GO:0019220 GO:0019222 GO:0019362 GO:0019637 GO:0019752 GO:0022414 GO:0030554 GO:0031323 GO:0031329 GO:0031907 GO:0031974 GO:0031982 GO:0031983 GO:0032502 GO:0032787 GO:0033993 GO:0034641 GO:0034774 GO:0036094 GO:0042221 GO:0042579 GO:0042802 GO:0042803 GO:0043167 GO:0043169 GO:0043226 GO:0043227 GO:0043229 GO:0043230 GO:0043231 GO:0043233 GO:0043436 GO:0043648 GO:0044237 GO:0044238 GO:0044281 GO:0045296 GO:0046483 GO:0046487 GO:0046496 GO:0046872 GO:0046890 GO:0046983 GO:0048513 GO:0048545 GO:0048608 GO:0048856 GO:0050661 GO:0050789 GO:0050794 GO:0050839 GO:0050896 GO:0050994 GO:0051174 GO:0051287 GO:0055086 GO:0060205 GO:0060696 GO:0065007 GO:0065010 GO:0070013 GO:0070062 GO:0071071 GO:0071704 GO:0072350 GO:0072521 GO:0072524 GO:0080090 GO:0097159 GO:0110165 GO:1901265 GO:1901360 GO:1901363 GO:1901564 GO:1901615 GO:1902652 GO:1903561 GO:1903725 GO:1904724 GO:1904813
79944	L-2-hydroxyglutarate dehydrogenase	L2HGDH Aliases: 2-hydroxyglutarate dehydrogenase FLJ12618	Homo sapiens (human)	9606	2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria brain cancer cerebellar ataxia chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma congenital nystagmus disease of metabolism dissociated nystagmus dystonia encephalitis encephalomyelitis epilepsy giant cell glioblastoma glioblastoma hereditary spastic paraplegia high grade glioma hypertropia intellectual disability learning disability mechanical strabismus myelitis nervous system cancer neurodegenerative disease nonpapillary renal cell carcinoma ophthalmoplegia optic atrophy papillary renal cell carcinoma pathologic nystagmus renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma sensorineural hearing loss spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 vascular dementia visual epilepsy	DOID:0014667 DOID:0050387 DOID:0050573 DOID:0050574 DOID:0050575 DOID:0050753 DOID:0060823 DOID:0111351 DOID:10003 DOID:1059 DOID:11771 DOID:11832 DOID:1289 DOID:13174 DOID:1319 DOID:1826 DOID:2476 DOID:3068 DOID:3070 DOID:3074 DOID:3093 DOID:322 DOID:4450 DOID:4451 DOID:4464 DOID:4465 DOID:4467 DOID:4471 DOID:4473 DOID:539 DOID:540 DOID:543 DOID:5723 DOID:640 DOID:8725 DOID:8927 DOID:9306 DOID:9588 DOID:9649 DOID:9650 DOID:9837	2-hydroxyglutarate dehydrogenase activity 2-oxoglutarate metabolic process biological_process carboxylic acid metabolic process catalytic activity cellular anatomical entity cellular metabolic process cellular process cellular_component dicarboxylic acid metabolic process intracellular membrane-bounded organelle intracellular organelle membrane-bounded organelle membrane metabolic process mitochondrial inner membrane mitochondrial membrane mitochondrion molecular_function organelle inner membrane organelle membrane organelle organic acid metabolic process organic substance metabolic process oxidoreductase activity, acting on CH-OH group of donors oxidoreductase activity oxoacid metabolic process small molecule metabolic process	GO:0003674 GO:0003824 GO:0005575 GO:0005739 GO:0005743 GO:0006082 GO:0006103 GO:0008150 GO:0008152 GO:0009987 GO:0016020 GO:0016491 GO:0016614 GO:0019752 GO:0019866 GO:0031090 GO:0031966 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0043436 GO:0043648 GO:0044237 GO:0044281 GO:0047545 GO:0071704 GO:0110165
8455	attractin	ATRN Aliases: DPPT-L MGCA mahogany protein	Homo sapiens (human)	9606	3-methylglutaconic aciduria type 3 Barth syndrome allergic asthma anaplastic astrocytoma asthma cancer cardiomyopathy central nervous system cancer childhood cerebral astrocytoma endomyocardial fibrosis fibrillary astrocytoma gemistocytic astrocytoma gliosarcoma high grade glioma hypertrophic cardiomyopathy intrinsic asthma juvenile pilocytic astrocytoma leukodystrophy malignant astrocytoma mixed glioma obesity pilocytic astrocytoma protoplasmic astrocytoma restless legs syndrome skin benign neoplasm skin cancer squamous cell carcinoma subependymal giant cell astrocytoma tongue squamous cell carcinoma	DOID:0050425 DOID:0050476 DOID:0050700 DOID:0050865 DOID:0110004 DOID:10579 DOID:11984 DOID:12932 DOID:162 DOID:1749 DOID:2841 DOID:3069 DOID:3070 DOID:3071 DOID:3078 DOID:3165 DOID:3620 DOID:4159 DOID:4851 DOID:5076 DOID:5077 DOID:6726 DOID:6811 DOID:7005 DOID:7007 DOID:7008 DOID:9360 DOID:9415 DOID:9970	Golgi apparatus anatomical structure development axon ensheathment binding biological regulation biological_process carbohydrate binding cellular anatomical entity cellular process cellular_component cerebellum development defense response developmental process ensheathment of neurons extracellular exosome extracellular membrane-bounded organelle extracellular organelle extracellular space extracellular vesicle inflammatory response intracellular membrane-bounded organelle intracellular organelle membrane-bounded organelle membrane molecular transducer activity molecular_function myelination organelle pigmentation plasma membrane regulation of biological process regulation of developmental growth regulation of developmental process regulation of growth regulation of multicellular organism growth regulation of multicellular organismal process response to stimulus response to stress signaling receptor activity vesicle	GO:0003674 GO:0005488 GO:0005575 GO:0005615 GO:0005794 GO:0005886 GO:0006950 GO:0006952 GO:0006954 GO:0007272 GO:0008150 GO:0008366 GO:0009987 GO:0016020 GO:0021549 GO:0030246 GO:0031982 GO:0032502 GO:0038023 GO:0040008 GO:0040014 GO:0042552 GO:0043226 GO:0043227 GO:0043229 GO:0043230 GO:0043231 GO:0043473 GO:0048638 GO:0048856 GO:0050789 GO:0050793 GO:0050896 GO:0051239 GO:0060089 GO:0065007 GO:0065010 GO:0070062 GO:0110165 GO:1903561
8803	succinate-CoA ligase ADP-forming subunit beta	SUCLA2 Aliases: succinate--CoA ligase (ADP-forming)	Homo sapiens (human)	9606	3-methylglutaconic aciduria type 4 Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Down syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome achondroplasia age related macular degeneration alternating hemiplegia of childhood amnestic disorder amyloidosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy blindness central nervous system disease cerebral degeneration congenital ptosis congestive heart failure coronary artery disease cutaneous porphyria degeneration of macula and posterior pole dementia depressive disorder diabetes mellitus diabetic ketoacidosis dissociative amnesia dysthymic disorder dystonia enterocele epilepsy erythropoietic protoporphyria familial retinoblastoma focal hand dystonia frontotemporal dementia generalized dystonia herpes simplex hydrocephalus hypertropia inflammatory bowel disease 1 inflammatory bowel disease isolated elevated serum creatine phosphokinase levels lactic acidosis leukopenia lingual-facial-buccal dyskinesia macular degeneration major depressive disorder mechanical strabismus melancholic depression methylmalonic acidemia microcephaly mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome mitochondrial encephalomyopathy movement disease nervous system disease neuroblastoma neurodegenerative disease neuropathy neurotic disorder obesity obsolete melancholia ophthalmoplegia parasitic helminthiasis infectious disease peripheral nervous system disease ptosis retinoblastoma retrocochlear disease retrograde amnesia sensorineural hearing loss sideroblastic anemia 1 strabismus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome trilateral retinoblastoma tuberculosis type 2 diabetes mellitus ulcerative colitis vascular dementia visual epilepsy	DOID:0050589 DOID:0050635 DOID:0050835 DOID:0050841 DOID:0060063 DOID:0060192 DOID:0060260 DOID:0060261 DOID:0060672 DOID:0060891 DOID:0060895 DOID:0060896 DOID:0070329 DOID:0080124 DOID:0080128 DOID:0080348 DOID:0110006 DOID:0110035 DOID:0110037 DOID:0110038 DOID:0110039 DOID:0110041 DOID:0110042 DOID:0110043 DOID:0110044 DOID:0110045 DOID:0110046 DOID:0110047 DOID:0110048 DOID:0110892 DOID:0111338 DOID:0111414 DOID:0111415 DOID:10003 DOID:10652 DOID:10871 DOID:10907 DOID:10908 DOID:10914 DOID:11037 DOID:11504 DOID:11832 DOID:11870 DOID:11949 DOID:12139 DOID:12217 DOID:1283 DOID:1289 DOID:1307 DOID:13270 DOID:13271 DOID:14250 DOID:1432 DOID:14330 DOID:1443 DOID:14525 DOID:1470 DOID:14749 DOID:1595 DOID:1596 DOID:1826 DOID:1837 DOID:1936 DOID:2007 DOID:2348 DOID:2349 DOID:2848 DOID:2889 DOID:331 DOID:3393 DOID:3650 DOID:3652 DOID:399 DOID:4448 DOID:4480 DOID:4543 DOID:4647 DOID:4648 DOID:480 DOID:4964 DOID:5162 DOID:539 DOID:540 DOID:543 DOID:574 DOID:6000 DOID:615 DOID:768 DOID:769 DOID:8566 DOID:8577 DOID:863 DOID:870 DOID:8725 DOID:8778 DOID:883 DOID:890 DOID:9120 DOID:9255 DOID:9306 DOID:9351 DOID:9352 DOID:9521 DOID:9837 DOID:9854 DOID:9970	ATP binding acid-thiol ligase activity acyl-CoA metabolic process adenyl nucleotide binding adenyl ribonucleotide binding amide metabolic process anion binding aromatic compound biosynthetic process aromatic compound catabolic process binding biological_process biosynthetic process carbohydrate derivative binding carbohydrate derivative catabolic process carbohydrate derivative metabolic process carboxylic acid metabolic process catabolic process catalytic activity catalytic complex cation binding cellular anatomical entity cellular aromatic compound metabolic process cellular biosynthetic process cellular catabolic process cellular metabolic process cellular nitrogen compound biosynthetic process cellular nitrogen compound catabolic process cellular nitrogen compound metabolic process cellular process cellular_component dicarboxylic acid metabolic process extracellular exosome extracellular membrane-bounded organelle extracellular organelle extracellular vesicle heterocycle biosynthetic process heterocycle catabolic process heterocycle metabolic process heterocyclic compound binding intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle ion binding ligase activity, forming carbon-sulfur bonds ligase activity magnesium ion binding membrane-bounded organelle membrane-enclosed lumen metabolic process metal ion binding mitochondrial matrix mitochondrion molecular_function nitrogen compound metabolic process nucleobase-containing compound catabolic process nucleobase-containing compound metabolic process nucleobase-containing small molecule metabolic process nucleoside bisphosphate catabolic process nucleoside bisphosphate metabolic process nucleoside phosphate binding nucleoside phosphate catabolic process nucleoside phosphate metabolic process nucleotide binding nucleotide catabolic process nucleotide metabolic process organelle lumen organelle organic acid metabolic process organic cyclic compound binding organic cyclic compound biosynthetic process organic cyclic compound catabolic process organic cyclic compound metabolic process organic substance biosynthetic process organic substance catabolic process organic substance metabolic process organonitrogen compound biosynthetic process organonitrogen compound catabolic process organonitrogen compound metabolic process organophosphate catabolic process organophosphate metabolic process oxoacid metabolic process phosphate-containing compound metabolic process phosphorus metabolic process porphyrin-containing compound biosynthetic process porphyrin-containing compound metabolic process primary metabolic process protein binding protein-containing complex purine nucleoside bisphosphate catabolic process purine nucleoside bisphosphate metabolic process purine nucleotide binding purine nucleotide catabolic process purine nucleotide metabolic process purine ribonucleoside triphosphate binding purine ribonucleotide binding purine ribonucleotide catabolic process purine ribonucleotide metabolic process purine-containing compound catabolic process purine-containing compound metabolic process ribonucleoside bisphosphate catabolic process ribonucleoside bisphosphate metabolic process ribonucleotide binding ribonucleotide catabolic process ribonucleotide metabolic process ribose phosphate metabolic process small molecule binding small molecule metabolic process succinate metabolic process succinate-CoA ligase (ADP-forming) activity succinate-CoA ligase activity succinate-CoA ligase complex (ADP-forming) succinate-CoA ligase complex succinyl-CoA catabolic process succinyl-CoA metabolic process succinyl-CoA pathway sulfur compound catabolic process sulfur compound metabolic process tetrapyrrole biosynthetic process tetrapyrrole metabolic process thioester metabolic process tricarboxylic acid cycle enzyme complex tricarboxylic acid cycle vesicle	GO:0000166 GO:0000287 GO:0003674 GO:0003824 GO:0004774 GO:0004775 GO:0005488 GO:0005515 GO:0005524 GO:0005575 GO:0005739 GO:0005759 GO:0006082 GO:0006099 GO:0006104 GO:0006105 GO:0006139 GO:0006163 GO:0006195 GO:0006637 GO:0006725 GO:0006753 GO:0006778 GO:0006779 GO:0006781 GO:0006790 GO:0006793 GO:0006796 GO:0006807 GO:0008150 GO:0008152 GO:0009056 GO:0009058 GO:0009117 GO:0009150 GO:0009154 GO:0009166 GO:0009259 GO:0009261 GO:0009361 GO:0009987 GO:0016874 GO:0016877 GO:0016878 GO:0017076 GO:0018130 GO:0019438 GO:0019439 GO:0019637 GO:0019693 GO:0019752 GO:0030554 GO:0031974 GO:0031982 GO:0032553 GO:0032555 GO:0032559 GO:0032991 GO:0033013 GO:0033014 GO:0033865 GO:0033869 GO:0033875 GO:0034031 GO:0034032 GO:0034034 GO:0034641 GO:0034655 GO:0035383 GO:0035639 GO:0036094 GO:0042709 GO:0043167 GO:0043168 GO:0043169 GO:0043226 GO:0043227 GO:0043229 GO:0043230 GO:0043231 GO:0043233 GO:0043436 GO:0043603 GO:0043648 GO:0044237 GO:0044238 GO:0044248 GO:0044249 GO:0044270 GO:0044271 GO:0044273 GO:0044281 GO:0045239 GO:0046434 GO:0046483 GO:0046700 GO:0046872 GO:0055086 GO:0065010 GO:0070013 GO:0070062 GO:0071704 GO:0072521 GO:0072523 GO:0097159 GO:0097367 GO:0110165 GO:1901135 GO:1901136 GO:1901265 GO:1901289 GO:1901292 GO:1901360 GO:1901361 GO:1901362 GO:1901363 GO:1901564 GO:1901565 GO:1901566 GO:1901575 GO:1901576 GO:1902494 GO:1903561
1892	enoyl-CoA hydratase, short chain 1	ECHS1 Aliases: SCEH short chain enoyl-CoA hydratase	Homo sapiens (human)	9606	3-methylglutaconic aciduria Balo concentric sclerosis Hailey-Hailey disease Leigh disease Rothmund-Thomson syndrome adrenoleukodystrophy alcohol dependence alcohol use disorder anemia autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB breast cancer breast carcinoma cancer cardiomyopathy central nervous system disease childhood onset GLUT1 deficiency syndrome 2 chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma cone-rod dystrophy congenital nystagmus congenital ptosis cutis laxa disease of metabolism dissociated nystagmus dystonia embryoma endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy focal hand dystonia fundus albipunctatus generalized dystonia giant cell glioblastoma glioblastoma hepatitis A hepatitis hepatocellular carcinoma high grade glioma hypertrichosis hypertrophic cardiomyopathy hypertropia inherited metabolic disorder lactic acidosis leukodystrophy lingual-facial-buccal dyskinesia liver cancer liver carcinoma macrocytic anemia mal de Meleda mechanical strabismus mitochondrial metabolism disease narcolepsy nervous system disease neuropathy nonpapillary renal cell carcinoma obesity ophthalmoplegia optic atrophy overnutrition papillary renal cell carcinoma pathologic nystagmus peripheral nervous system disease periventricular leukomalacia ptosis pyruvate carboxylase deficiency disease pyruvate decarboxylase deficiency renal carcinoma renal cell carcinoma restrictive dermopathy retinitis pigmentosa sarcomatoid renal cell carcinoma sensorineural hearing loss spontaneous ocular nystagmus stomach cancer stomach carcinoma strabismus syndromic X-linked intellectual disability 94 ventricular septal defect visual epilepsy	DOID:0014667 DOID:0050387 DOID:0050429 DOID:0050572 DOID:0050700 DOID:0050741 DOID:0050835 DOID:0050841 DOID:0060215 DOID:0060260 DOID:0060261 DOID:0060336 DOID:0060762 DOID:0060823 DOID:0060862 DOID:0070129 DOID:0070130 DOID:0070131 DOID:0070132 DOID:0070133 DOID:0070134 DOID:0070135 DOID:0070136 DOID:0070137 DOID:0070138 DOID:0070140 DOID:0070141 DOID:0070142 DOID:0080326 DOID:0090045 DOID:10003 DOID:10534 DOID:10579 DOID:10584 DOID:10588 DOID:11105 DOID:11771 DOID:11832 DOID:11984 DOID:12549 DOID:12932 DOID:13088 DOID:13174 DOID:1574 DOID:1612 DOID:162 DOID:1657 DOID:1826 DOID:2237 DOID:2355 DOID:2361 DOID:2732 DOID:3068 DOID:3070 DOID:3074 DOID:3144 DOID:331 DOID:3459 DOID:3571 DOID:3649 DOID:3650 DOID:3651 DOID:3652 DOID:420 DOID:4450 DOID:4451 DOID:4464 DOID:4465 DOID:4467 DOID:4471 DOID:4473 DOID:4766 DOID:539 DOID:540 DOID:543 DOID:5517 DOID:5723 DOID:574 DOID:654 DOID:655 DOID:684 DOID:686 DOID:700 DOID:863 DOID:870 DOID:8986 DOID:9306 DOID:9649 DOID:9650 DOID:9837 DOID:9854 DOID:9970	3-hydroxypropionyl-CoA dehydratase activity amino acid catabolic process amino acid metabolic process binding biological_process branched-chain amino acid catabolic process branched-chain amino acid metabolic process carbon-oxygen lyase activity carboxylic acid catabolic process carboxylic acid metabolic process catabolic process catalytic activity cellular anatomical entity cellular catabolic process cellular lipid catabolic process cellular lipid metabolic process cellular metabolic process cellular process cellular_component crotonyl-CoA hydratase activity delta(3)-delta(2)-enoyl-CoA isomerase activity enoyl-CoA hydratase activity fatty acid beta-oxidation fatty acid catabolic process fatty acid metabolic process fatty acid oxidation hydro-lyase activity intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle intramolecular oxidoreductase activity, transposing C=C bonds intramolecular oxidoreductase activity isomerase activity lipid catabolic process lipid metabolic process lipid modification lipid oxidation lyase activity membrane-bounded organelle membrane-enclosed lumen metabolic process mitochondrial matrix mitochondrion molecular_function monocarboxylic acid catabolic process monocarboxylic acid metabolic process nitrogen compound metabolic process organelle lumen organelle organic acid catabolic process organic acid metabolic process organic substance catabolic process organic substance metabolic process organonitrogen compound catabolic process organonitrogen compound metabolic process oxoacid metabolic process primary metabolic process protein binding small molecule catabolic process small molecule metabolic process	GO:0003674 GO:0003824 GO:0004165 GO:0004300 GO:0005488 GO:0005515 GO:0005575 GO:0005739 GO:0005759 GO:0006082 GO:0006520 GO:0006629 GO:0006631 GO:0006635 GO:0006807 GO:0008150 GO:0008152 GO:0009056 GO:0009062 GO:0009063 GO:0009081 GO:0009083 GO:0009987 GO:0016042 GO:0016054 GO:0016829 GO:0016835 GO:0016836 GO:0016853 GO:0016860 GO:0016863 GO:0019395 GO:0019752 GO:0030258 GO:0031974 GO:0032787 GO:0034440 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0043233 GO:0043436 GO:0043956 GO:0044237 GO:0044238 GO:0044242 GO:0044248 GO:0044255 GO:0044281 GO:0044282 GO:0046395 GO:0070013 GO:0071704 GO:0072329 GO:0110165 GO:0120092 GO:1901564 GO:1901565 GO:1901575
1717	7-dehydrocholesterol reductase	DHCR7	Homo sapiens (human)	9606	3-methylglutaconic aciduria Behcet's disease Dandy-Walker syndrome Hailey-Hailey disease Laron syndrome Marfan syndrome Meckel syndrome Potter's syndrome Rapp-Hodgkin syndrome Rothmund-Thomson syndrome Smith-Lemli-Opitz syndrome X-linked ichthyosis achondroplasia ankyloblepharon-ectodermal defects-cleft lip/palate syndrome arteriosclerotic cardiovascular disease atherosclerosis atrioventricular septal defect autism spectrum disorder autistic disorder autoimmune disease autoimmune lymphoproliferative syndrome autosomal dominant cutis laxa 1 autosomal dominant cutis laxa 2 autosomal dominant cutis laxa 3 autosomal dominant cutis laxa autosomal dominant polycystic kidney disease autosomal recessive cutis laxa type IA autosomal recessive cutis laxa type IB autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type IIA autosomal recessive cutis laxa type IIB autosomal recessive cutis laxa type IIC autosomal recessive cutis laxa type IID autosomal recessive cutis laxa type IIIA autosomal recessive cutis laxa type IIIB bilateral optic nerve hypoplasia bilateral renal aplasia cardiovascular system disease choanal atresia coloboma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer congenital disorder of glycosylation type II congenital disorder of glycosylation type IIc coronary artery disease cutis laxa dermatitis diabetes mellitus diabetic ketoacidosis fissured tongue glaucoma glycoproteinosis heart disease hepatitis C hepatocellular carcinoma hydrocephalus hypohidrotic ectodermal dysplasia hypospadias immune system disease intellectual disability interstitial nephritis large intestine cancer learning disability leukocyte adhesion deficiency 2 leukocyte adhesion deficiency lingual-facial-buccal dyskinesia liver cancer liver cirrhosis mal de Meleda microcephaly movement disease multiple sclerosis nutmeg liver obsolete type 1 diabetes mellitus 9 oligohydramnios osteomalacia periventricular nodular heterotopia photosensitive epilepsy photosensitivity disease placental insufficiency polycystic ovary syndrome polydactyly polyhydramnios pyelitis pyelonephritis restrictive dermopathy rheumatoid arthritis rickets scoliosis sensorineural hearing loss situs inversus syndromic X-linked intellectual disability type 10 tongue disease tuberous sclerosis type 1 diabetes mellitus 10 type 1 diabetes mellitus 11 type 1 diabetes mellitus 12 type 1 diabetes mellitus 13 type 1 diabetes mellitus 15 type 1 diabetes mellitus 17 type 1 diabetes mellitus 18 type 1 diabetes mellitus 19 type 1 diabetes mellitus 20 type 1 diabetes mellitus 21 type 1 diabetes mellitus 22 type 1 diabetes mellitus 23 type 1 diabetes mellitus 24 type 1 diabetes mellitus 2 type 1 diabetes mellitus 3 type 1 diabetes mellitus 4 type 1 diabetes mellitus 5 type 1 diabetes mellitus 6 type 1 diabetes mellitus 7 type 1 diabetes mellitus 8 type 1 diabetes mellitus type 2 diabetes mellitus ventricular septal defect	DOID:0050429 DOID:0050454 DOID:0050571 DOID:0050651 DOID:0050778 DOID:0060041 DOID:0060249 DOID:0060281 DOID:0060330 DOID:0060336 DOID:0060762 DOID:0060810 DOID:0060862 DOID:0070129 DOID:0070130 DOID:0070131 DOID:0070132 DOID:0070133 DOID:0070134 DOID:0070135 DOID:0070136 DOID:0070137 DOID:0070138 DOID:0070140 DOID:0070141 DOID:0070142 DOID:0070255 DOID:0080200 DOID:0080492 DOID:0090119 DOID:0110741 DOID:0110742 DOID:0110743 DOID:0110744 DOID:0110745 DOID:0110746 DOID:0110747 DOID:0110748 DOID:0110749 DOID:0110750 DOID:0110751 DOID:0110752 DOID:0110753 DOID:0110754 DOID:0110755 DOID:0110756 DOID:0110757 DOID:0110758 DOID:0110759 DOID:0110760 DOID:0110761 DOID:0111531 DOID:10003 DOID:10573 DOID:1059 DOID:10609 DOID:1063 DOID:10892 DOID:10907 DOID:10908 DOID:10944 DOID:114 DOID:11400 DOID:1148 DOID:11514 DOID:11612 DOID:12215 DOID:12270 DOID:12594 DOID:12849 DOID:1287 DOID:13241 DOID:13515 DOID:13739 DOID:14323 DOID:14692 DOID:14793 DOID:1520 DOID:1657 DOID:1686 DOID:1700 DOID:1837 DOID:1883 DOID:1936 DOID:219 DOID:2348 DOID:235 DOID:2377 DOID:2723 DOID:2732 DOID:2744 DOID:2785 DOID:2914 DOID:3144 DOID:3159 DOID:3343 DOID:3393 DOID:3571 DOID:3891 DOID:417 DOID:4480 DOID:480 DOID:5082 DOID:5672 DOID:6612 DOID:6688 DOID:684 DOID:7148 DOID:758 DOID:8488 DOID:8927 DOID:898 DOID:9256 DOID:9351 DOID:9352 DOID:9521 DOID:9574 DOID:9744 DOID:9854	7-dehydrocholesterol reductase activity NADP binding adenyl nucleotide binding alcohol biosynthetic process alcohol metabolic process binding biological regulation biological_process biosynthetic process bounding membrane of organelle brassinosteroid biosynthetic process brassinosteroid metabolic process catalytic activity cellular anatomical entity cellular_component cholesterol biosynthetic process via desmosterol cholesterol biosynthetic process via lathosterol cholesterol biosynthetic process cholesterol metabolic process endoplasmic reticulum membrane endoplasmic reticulum heterocyclic compound binding hormone metabolic process intracellular membrane-bounded organelle intracellular organelle lipid biosynthetic process lipid metabolic process membrane-bounded organelle membrane metabolic process molecular_function nuclear membrane nuclear outer membrane nucleoside phosphate binding nucleotide binding organelle membrane organelle outer membrane organelle organic cyclic compound binding organic cyclic compound biosynthetic process organic cyclic compound metabolic process organic hydroxy compound biosynthetic process organic hydroxy compound metabolic process organic substance biosynthetic process organic substance metabolic process outer membrane oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor oxidoreductase activity, acting on the CH-CH group of donors oxidoreductase activity phytosteroid biosynthetic process phytosteroid metabolic process positive regulation of biological process positive regulation of cellular process positive regulation of ferroptosis positive regulation of programmed cell death primary metabolic process protein binding purine nucleotide binding regulation of biological process regulation of biological quality regulation of cellular process regulation of ferroptosis regulation of hormone levels regulation of programmed cell death secondary alcohol biosynthetic process secondary alcohol metabolic process small molecule binding small molecule biosynthetic process small molecule metabolic process steroid biosynthetic process steroid metabolic process sterol biosynthetic process sterol metabolic process	GO:0000166 GO:0003674 GO:0003824 GO:0005488 GO:0005515 GO:0005575 GO:0005640 GO:0005783 GO:0005789 GO:0006066 GO:0006629 GO:0006694 GO:0006695 GO:0008150 GO:0008152 GO:0008202 GO:0008203 GO:0008610 GO:0009058 GO:0010817 GO:0016020 GO:0016125 GO:0016126 GO:0016128 GO:0016129 GO:0016131 GO:0016132 GO:0016491 GO:0016627 GO:0016628 GO:0017076 GO:0019867 GO:0030554 GO:0031090 GO:0031965 GO:0031968 GO:0033489 GO:0033490 GO:0036094 GO:0042445 GO:0043067 GO:0043068 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0044238 GO:0044281 GO:0044283 GO:0046165 GO:0047598 GO:0048518 GO:0048522 GO:0050661 GO:0050789 GO:0050794 GO:0065007 GO:0065008 GO:0071704 GO:0097159 GO:0098588 GO:0110075 GO:0110165 GO:0160020 GO:1901265 GO:1901360 GO:1901362 GO:1901363 GO:1901576 GO:1901615 GO:1901617 GO:1902652 GO:1902653
55750	acylglycerol kinase	AGK Aliases: FLJ10842	Homo sapiens (human)	9606	3-methylglutaconic aciduria Chanarin-Dorfman syndrome Sengers syndrome agnosia autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy breast cancer breast carcinoma cancer cardiomyopathy cataract 1 multiple types cataract 10 multiple types cataract 11 multiple types cataract 12 multiple types cataract 13 with adult i phenotype cataract 14 multiple types cataract 15 multiple types cataract 16 multiple types cataract 17 multiple types cataract 18 cataract 19 multiple types cataract 2 multiple types cataract 20 multiple types cataract 21 multiple types cataract 22 multiple types cataract 23 cataract 24 cataract 25 cataract 26 multiple types cataract 27 cataract 29 cataract 3 multiple types cataract 30 cataract 31 multiple types cataract 32 multiple types cataract 33 cataract 34 multiple types cataract 35 cataract 37 cataract 38 cataract 39 multiple types cataract 4 multiple types cataract 40 cataract 41 cataract 42 cataract 43 cataract 44 cataract 45 cataract 46 juvenile-onset cataract 5 multiple types cataract 6 multiple types cataract 7 cataract 8 multiple types cataract 9 multiple types cataract central nervous system cancer cervical squamous cell carcinoma cervix uteri carcinoma in situ congenital muscular dystrophy congenital nystagmus corneal dystrophy developmental coordination disorder dissociated nystagmus distal myopathy embryoma endomyocardial fibrosis esophagus squamous cell carcinoma facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis glaucoma gliosarcoma high grade glioma hypertrophic cardiomyopathy hypertropia lactic acidosis limb-girdle muscular dystrophy mechanical strabismus mitochondrial DNA depletion syndrome 12b mitochondrial metabolism disease mitochondrial myopathy mixed glioma muscular dystrophy myopathy myopia nasopharynx carcinoma obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R oculopharyngeal muscular dystrophy ophthalmoplegia papillary adenocarcinoma papillary renal cell carcinoma pathologic nystagmus prostate cancer prostate carcinoma spontaneous ocular nystagmus squamous cell carcinoma strabismus thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland papillary carcinoma tongue squamous cell carcinoma trichohepatoenteric syndrome 1	DOID:0050557 DOID:0050700 DOID:0050729 DOID:0050865 DOID:0060336 DOID:0080132 DOID:0080326 DOID:0080335 DOID:0110227 DOID:0110228 DOID:0110229 DOID:0110230 DOID:0110231 DOID:0110232 DOID:0110233 DOID:0110234 DOID:0110235 DOID:0110236 DOID:0110237 DOID:0110238 DOID:0110239 DOID:0110240 DOID:0110241 DOID:0110242 DOID:0110243 DOID:0110245 DOID:0110246 DOID:0110248 DOID:0110249 DOID:0110250 DOID:0110251 DOID:0110252 DOID:0110253 DOID:0110254 DOID:0110255 DOID:0110256 DOID:0110257 DOID:0110258 DOID:0110259 DOID:0110260 DOID:0110261 DOID:0110262 DOID:0110263 DOID:0110264 DOID:0110265 DOID:0110266 DOID:0110267 DOID:0110268 DOID:0110269 DOID:0110270 DOID:0110271 DOID:0110272 DOID:0110273 DOID:0110274 DOID:0110275 DOID:0110276 DOID:0110277 DOID:0110278 DOID:0110279 DOID:0110280 DOID:0110281 DOID:0110282 DOID:0110283 DOID:0110284 DOID:0110285 DOID:0110286 DOID:0110287 DOID:0110289 DOID:0110292 DOID:0110293 DOID:0110294 DOID:0110295 DOID:0110296 DOID:0110297 DOID:0110298 DOID:0110299 DOID:0110300 DOID:0110301 DOID:0110302 DOID:0110303 DOID:0110304 DOID:0110305 DOID:0110306 DOID:0111415 DOID:10283 DOID:10286 DOID:1029 DOID:11719 DOID:11720 DOID:11724 DOID:11727 DOID:11771 DOID:11830 DOID:11984 DOID:12932 DOID:13174 DOID:1612 DOID:162 DOID:1686 DOID:1749 DOID:1781 DOID:2566 DOID:2891 DOID:3070 DOID:3071 DOID:3112 DOID:3459 DOID:3620 DOID:3650 DOID:3744 DOID:3748 DOID:3963 DOID:3969 DOID:4090 DOID:423 DOID:4465 DOID:4766 DOID:5076 DOID:539 DOID:540 DOID:699 DOID:700 DOID:83 DOID:8991 DOID:9261 DOID:9306 DOID:9649 DOID:9650 DOID:9837 DOID:9884 DOID:9923	ATP binding ATP-dependent diacylglycerol kinase activity TIM22 mitochondrial import inner membrane insertion complex acylglycerol kinase activity adenyl nucleotide binding adenyl ribonucleotide binding amide biosynthetic process amide metabolic process anion binding binding biological_process biosynthetic process bounding membrane of organelle carbohydrate derivative binding catalytic activity cellular anatomical entity cellular biosynthetic process cellular component organization or biogenesis cellular component organization cellular lipid metabolic process cellular localization cellular macromolecule localization cellular metabolic process cellular nitrogen compound biosynthetic process cellular nitrogen compound metabolic process cellular process cellular_component ceramide biosynthetic process ceramide kinase activity ceramide metabolic process cytosol establishment of localization in cell establishment of localization establishment of protein localization to membrane establishment of protein localization to mitochondrial membrane establishment of protein localization to mitochondrion establishment of protein localization to organelle establishment of protein localization glycerolipid metabolic process heterocyclic compound binding inner mitochondrial membrane organization inner mitochondrial membrane protein complex intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle intracellular protein transport intracellular transport ion binding kinase activity lipid biosynthetic process lipid kinase activity lipid metabolic process lipid modification lipid phosphorylation localization within membrane localization macromolecule localization membrane lipid biosynthetic process membrane lipid metabolic process membrane organization membrane protein complex membrane-bounded organelle membrane-enclosed lumen membrane metabolic process mitochondrial inner membrane mitochondrial intermembrane space mitochondrial membrane organization mitochondrial membrane mitochondrial outer membrane mitochondrial protein-containing complex mitochondrial transport mitochondrion organization mitochondrion molecular_function nitrogen compound metabolic process nitrogen compound transport nucleoside phosphate binding nucleotide binding organelle envelope lumen organelle inner membrane organelle lumen organelle membrane organelle organization organelle outer membrane organelle organic cyclic compound binding organic substance biosynthetic process organic substance metabolic process organic substance transport organonitrogen compound biosynthetic process organonitrogen compound metabolic process outer membrane phosphate-containing compound metabolic process phosphorus metabolic process phosphorylation phosphotransferase activity, alcohol group as acceptor primary metabolic process protein binding protein insertion into mitochondrial inner membrane protein localization to membrane protein localization to mitochondrion protein localization to organelle protein localization protein transport protein-containing complex purine nucleotide binding purine ribonucleoside triphosphate binding purine ribonucleotide binding ribonucleotide binding small molecule binding sphingolipid biosynthetic process sphingolipid metabolic process transferase activity, transferring phosphorus-containing groups transferase activity transport	GO:0000166 GO:0001727 GO:0001729 GO:0003674 GO:0003824 GO:0004143 GO:0005488 GO:0005515 GO:0005524 GO:0005575 GO:0005739 GO:0005741 GO:0005743 GO:0005758 GO:0005829 GO:0006629 GO:0006643 GO:0006665 GO:0006672 GO:0006793 GO:0006796 GO:0006807 GO:0006810 GO:0006839 GO:0006886 GO:0006996 GO:0007005 GO:0007006 GO:0007007 GO:0008104 GO:0008150 GO:0008152 GO:0008610 GO:0009058 GO:0009987 GO:0015031 GO:0016020 GO:0016043 GO:0016301 GO:0016310 GO:0016740 GO:0016772 GO:0016773 GO:0017076 GO:0019866 GO:0019867 GO:0030148 GO:0030258 GO:0030554 GO:0031090 GO:0031966 GO:0031968 GO:0031970 GO:0031974 GO:0032553 GO:0032555 GO:0032559 GO:0032991 GO:0033036 GO:0033365 GO:0034641 GO:0035639 GO:0036094 GO:0042721 GO:0043167 GO:0043168 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0043233 GO:0043603 GO:0043604 GO:0044237 GO:0044238 GO:0044249 GO:0044255 GO:0044271 GO:0045039 GO:0045184 GO:0046467 GO:0046486 GO:0046513 GO:0046834 GO:0046907 GO:0047620 GO:0051179 GO:0051234 GO:0051641 GO:0051649 GO:0051668 GO:0061024 GO:0070013 GO:0070585 GO:0070727 GO:0071702 GO:0071704 GO:0071705 GO:0071840 GO:0072594 GO:0072655 GO:0072657 GO:0090150 GO:0090151 GO:0097159 GO:0097367 GO:0098588 GO:0098796 GO:0098798 GO:0098800 GO:0110165 GO:1901265 GO:1901363 GO:1901564 GO:1901566 GO:1901576
36	acyl-CoA dehydrogenase short/branched chain	ACADSB Aliases: ACAD7 SBCAD	Homo sapiens (human)	9606	3-methylglutaconic aciduria Smith-Lemli-Opitz syndrome agnosia alternating exotropia autistic disorder breast cancer breast carcinoma developmental coordination disorder diabetes mellitus diabetic ketoacidosis epilepsy essential hypertension exotropia familial hyperlipidemia hepatocellular carcinoma hypertension hypoglycemia liver cancer microcephaly monocular exotropia short chain acyl-CoA dehydrogenase deficiency syndromic X-linked intellectual disability type 10 visual epilepsy	DOID:0060336 DOID:0060810 DOID:0080154 DOID:10763 DOID:10825 DOID:10907 DOID:1142 DOID:1143 DOID:1168 DOID:11832 DOID:11853 DOID:12849 DOID:14692 DOID:1612 DOID:1826 DOID:1837 DOID:3459 DOID:3571 DOID:4090 DOID:684 DOID:9351 DOID:9923 DOID:9993	2-methylacyl-CoA dehydrogenase activity acyl-CoA dehydrogenase activity alpha-amino acid catabolic process alpha-amino acid metabolic process amino acid catabolic process amino acid metabolic process anion binding binding biological_process branched-chain amino acid catabolic process branched-chain amino acid metabolic process carboxylic acid catabolic process carboxylic acid metabolic process catabolic process catalytic activity cellular anatomical entity cellular catabolic process cellular lipid metabolic process cellular metabolic process cellular process cellular_component fatty acid metabolic process flavin adenine dinucleotide binding heterocyclic compound binding identical protein binding intracellular membrane-bounded organelle intracellular organelle lumen intracellular organelle ion binding isoleucine catabolic process isoleucine metabolic process lipid metabolic process membrane-bounded organelle membrane-enclosed lumen metabolic process mitochondrial matrix mitochondrion molecular_function monocarboxylic acid metabolic process nitrogen compound metabolic process nucleoside phosphate binding nucleotide binding organelle lumen organelle organic acid catabolic process organic acid metabolic process organic cyclic compound binding organic substance catabolic process organic substance metabolic process organonitrogen compound catabolic process organonitrogen compound metabolic process oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor oxidoreductase activity, acting on the CH-CH group of donors oxidoreductase activity oxoacid metabolic process primary metabolic process protein binding short-chain-acyl-CoA dehydrogenase activity small molecule binding small molecule catabolic process small molecule metabolic process	GO:0000166 GO:0003674 GO:0003824 GO:0003853 GO:0003995 GO:0005488 GO:0005515 GO:0005575 GO:0005739 GO:0005759 GO:0006082 GO:0006520 GO:0006549 GO:0006550 GO:0006629 GO:0006631 GO:0006807 GO:0008150 GO:0008152 GO:0009056 GO:0009063 GO:0009081 GO:0009083 GO:0009987 GO:0016054 GO:0016491 GO:0016627 GO:0016937 GO:0019752 GO:0031974 GO:0032787 GO:0036094 GO:0042802 GO:0043167 GO:0043168 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0043233 GO:0043436 GO:0044237 GO:0044238 GO:0044248 GO:0044255 GO:0044281 GO:0044282 GO:0046395 GO:0050660 GO:0052890 GO:0070013 GO:0071704 GO:0097159 GO:0110165 GO:1901265 GO:1901363 GO:1901564 GO:1901565 GO:1901575 GO:1901605 GO:1901606
5648	MBL associated serine protease 1	MASP1 Aliases: C4/C2 activating component of Ra-reactive factor MAP-1 MASP MASP-3 Map44 mannose-binding lectin-associated serine protease 1	Homo sapiens (human)	9606	3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 3MC syndrome Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Bloch-Sulzberger syndrome Klippel-Feil syndrome Lewy body dementia Marfan syndrome Pick's disease Reye syndrome acute myocardial infarction age related macular degeneration amyotrophic lateral sclerosis type 1 amyotrophic lateral sclerosis type 6 arthritis arthropathy atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect atypical hemolytic-uremic syndrome bacterial infectious disease bacterial sepsis blepharophimosis blindness cancer cardiovascular system disease cerebral degeneration cerebral infarction cerebrovascular disease cervical adenocarcinoma cervical cancer cervix carcinoma cleft lip cleft palate cleidocranial dysplasia congenital ptosis coronary thrombosis craniosynostosis cryptorchidism cystic fibrosis degeneration of macula and posterior pole diabetes mellitus diabetic ketoacidosis disseminated intravascular coagulation esophagus squamous cell carcinoma gallbladder disease glaucoma glomerulonephritis heart disease hemolytic-uremic syndrome hepatitis C humeroradial synostosis hydronephrosis hypomelanosis of Ito inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 intellectual disability isolated cleft palate kidney disease kidney failure learning disability liver cirrhosis liver disease lung squamous cell carcinoma lupus erythematosus macular degeneration microcephaly multiple sclerosis myocardial infarction nephritis omphalocele patent ductus arteriosus patent foramen ovale placental insufficiency prostate cancer prostate carcinoma ptosis pulmonary tuberculosis purpura fulminans radioulnar synostosis rheumatoid arthritis scoliosis sensorineural hearing loss silent myocardial infarction situs inversus spina bifida occulta spondylolisthesis squamous cell carcinoma systemic lupus erythematosus tongue squamous cell carcinoma tuberculosis tuberculous pneumothorax tuberous sclerosis type 2 diabetes mellitus umbilical hernia uremia vascular dementia ventricular septal defect	DOID:0040085 DOID:0050865 DOID:0050881 DOID:0060193 DOID:0060198 DOID:0060225 DOID:0060249 DOID:0060260 DOID:0060261 DOID:0060262 DOID:0060321 DOID:0060327 DOID:0060467 DOID:0060538 DOID:0060575 DOID:0060576 DOID:0060577 DOID:0080073 DOID:0080301 DOID:0080348 DOID:0110035 DOID:0110037 DOID:0110038 DOID:0110039 DOID:0110041 DOID:0110043 DOID:0110044 DOID:0110045 DOID:0110046 DOID:0110047 DOID:0110048 DOID:0110106 DOID:0110107 DOID:0110108 DOID:0110109 DOID:0110110 DOID:0110111 DOID:0110112 DOID:0110113 DOID:0110114 DOID:0110213 DOID:0111385 DOID:10003 DOID:10283 DOID:10286 DOID:10348 DOID:104 DOID:10426 DOID:1059 DOID:10652 DOID:1074 DOID:10871 DOID:10907 DOID:10952 DOID:11111 DOID:11247 DOID:11383 DOID:114 DOID:11847 DOID:11870 DOID:12217 DOID:12305 DOID:12554 DOID:1287 DOID:13515 DOID:13620 DOID:13832 DOID:13994 DOID:1432 DOID:14323 DOID:1443 DOID:14525 DOID:1485 DOID:162 DOID:1657 DOID:1686 DOID:1749 DOID:1837 DOID:1882 DOID:1883 DOID:2007 DOID:2340 DOID:2377 DOID:2893 DOID:2921 DOID:2957 DOID:3156 DOID:3526 DOID:3702 DOID:3748 DOID:381 DOID:3891 DOID:3907 DOID:399 DOID:409 DOID:4362 DOID:4448 DOID:4676 DOID:5082 DOID:557 DOID:5844 DOID:5854 DOID:6682 DOID:6713 DOID:674 DOID:7148 DOID:758 DOID:848 DOID:8725 DOID:8857 DOID:8927 DOID:9074 DOID:9296 DOID:9351 DOID:9352 DOID:9408 DOID:9534 DOID:9827	activation of immune response binding biological process involved in interspecies interaction between organisms biological regulation biological_process calcium ion binding calcium-dependent protein binding catalytic activity, acting on a protein catalytic activity cation binding cellular anatomical entity cellular_component complement activation, lectin pathway complement activation cytosol defense response to other organism defense response endopeptidase activity extracellular region extracellular space humoral immune response hydrolase activity identical protein binding immune effector process immune response immune system process innate immune response ion binding macromolecule metabolic process metabolic process metal ion binding molecular_function negative regulation of biological process negative regulation of complement activation negative regulation of humoral immune response negative regulation of immune effector process negative regulation of immune response negative regulation of immune system process negative regulation of response to stimulus nitrogen compound metabolic process nucleoplasm organic substance metabolic process organonitrogen compound metabolic process peptidase activity positive regulation of biological process positive regulation of immune response positive regulation of immune system process positive regulation of response to stimulus primary metabolic process protein binding protein dimerization activity protein homodimerization activity protein maturation protein metabolic process protein processing proteolysis regulation of biological process regulation of complement activation regulation of humoral immune response regulation of immune effector process regulation of immune response regulation of immune system process regulation of response to stimulus response to biotic stimulus response to external biotic stimulus response to external stimulus response to other organism response to stimulus response to stress serine hydrolase activity serine-type endopeptidase activity serine-type peptidase activity zymogen activation	GO:0001867 GO:0002252 GO:0002253 GO:0002376 GO:0002682 GO:0002683 GO:0002684 GO:0002697 GO:0002698 GO:0002920 GO:0002921 GO:0003674 GO:0003824 GO:0004175 GO:0004252 GO:0005488 GO:0005509 GO:0005515 GO:0005575 GO:0005576 GO:0005615 GO:0005654 GO:0005829 GO:0006508 GO:0006807 GO:0006950 GO:0006952 GO:0006955 GO:0006956 GO:0006959 GO:0008150 GO:0008152 GO:0008233 GO:0008236 GO:0009605 GO:0009607 GO:0016485 GO:0016787 GO:0017171 GO:0019538 GO:0030449 GO:0031638 GO:0042802 GO:0042803 GO:0043167 GO:0043169 GO:0043170 GO:0043207 GO:0044238 GO:0044419 GO:0045087 GO:0045916 GO:0046872 GO:0046983 GO:0048306 GO:0048518 GO:0048519 GO:0048583 GO:0048584 GO:0048585 GO:0050776 GO:0050777 GO:0050778 GO:0050789 GO:0050896 GO:0051604 GO:0051707 GO:0065007 GO:0071704 GO:0098542 GO:0110165 GO:0140096 GO:1901564
78989	collectin subfamily member 11	COLEC11 Aliases: CL-11 CL-K1 Collectin K1 MGC3279	Homo sapiens (human)	9606	3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 3MC syndrome Bloch-Sulzberger syndrome Chagas disease Klippel-Feil syndrome acquired immunodeficiency syndrome bacterial infectious disease bacterial sepsis blepharophimosis cleft lip cleft palate cleidocranial dysplasia congenital ptosis craniosynostosis cryptorchidism disseminated intravascular coagulation enterobiasis glomerulonephritis human immunodeficiency virus infectious disease humeroradial synostosis hypertropia hypomelanosis of Ito intellectual disability intestinal schistosomiasis isolated cleft palate kidney disease learning disability mechanical strabismus nephritis nephrosis neurodegenerative disease omphalocele ophthalmoplegia pneumonia ptosis purpura fulminans pyoureter radioulnar synostosis schistosomiasis scoliosis sensorineural hearing loss spina bifida occulta spondylolisthesis strabismus trichinosis trypanosomiasis tuberculosis umbilical hernia urinary schistosomiasis viral infectious disease	DOID:0040085 DOID:0050597 DOID:0060225 DOID:0060249 DOID:0060260 DOID:0060261 DOID:0060321 DOID:0060327 DOID:0060467 DOID:0060538 DOID:0060575 DOID:0060576 DOID:0060577 DOID:0080073 DOID:0110213 DOID:10003 DOID:10113 DOID:10348 DOID:104 DOID:10426 DOID:1059 DOID:10952 DOID:11247 DOID:11383 DOID:12140 DOID:12305 DOID:1289 DOID:1394 DOID:1395 DOID:13994 DOID:1425 DOID:2340 DOID:2527 DOID:2921 DOID:3156 DOID:399 DOID:526 DOID:539 DOID:540 DOID:552 DOID:557 DOID:635 DOID:6682 DOID:674 DOID:7457 DOID:8927 DOID:9296 DOID:9306 DOID:934 DOID:9784 DOID:9827 DOID:9837	DNA binding activation of immune response activation of innate immune response antimicrobial humoral response binding biological process involved in interspecies interaction between organisms biological regulation biological_process calcium ion binding calcium-dependent carbohydrate binding carbohydrate binding catalytic complex cation binding cell surface pattern recognition receptor signaling pathway cell surface receptor signaling pathway cellular anatomical entity cellular process cellular_component collagen trimer complement activation, lectin pathway complement activation defense response to other organism defense response developmental process endopeptidase complex execution phase of apoptosis external side of plasma membrane extracellular region extracellular space fucose binding humoral immune response identical protein binding immune effector process immune response-activating cell surface receptor signaling pathway immune response-activating signaling pathway immune response-regulating cell surface receptor signaling pathway immune response-regulating signaling pathway immune response immune system process innate immune response activating cell surface receptor signaling pathway innate immune response-activating signaling pathway innate immune response ion binding macromolecule metabolic process mannose binding metabolic process metal ion binding molecular_function monosaccharide binding nitrogen compound metabolic process nucleic acid binding oligosaccharide binding organic cyclic compound binding organic substance metabolic process organonitrogen compound metabolic process pattern recognition receptor signaling pathway peptidase complex positive regulation of biological process positive regulation of cellular component organization positive regulation of cellular process positive regulation of defense response positive regulation of endocytosis positive regulation of immune effector process positive regulation of immune response positive regulation of immune system process positive regulation of innate immune response positive regulation of opsonization positive regulation of phagocytosis positive regulation of response to biotic stimulus positive regulation of response to external stimulus positive regulation of response to stimulus positive regulation of transport primary metabolic process protein binding protein metabolic process protein-containing complex proteolysis regulation of biological process regulation of cellular component organization regulation of cellular process regulation of defense response regulation of endocytosis regulation of immune effector process regulation of immune response regulation of immune system process regulation of innate immune response regulation of localization regulation of opsonization regulation of phagocytosis regulation of response to biotic stimulus regulation of response to external stimulus regulation of response to stimulus regulation of response to stress regulation of transport regulation of vesicle-mediated transport response to biotic stimulus response to external biotic stimulus response to external stimulus response to other organism response to stimulus response to stress serine-type endopeptidase complex serine-type peptidase complex side of membrane signal transduction small molecule binding	GO:0001867 GO:0002218 GO:0002220 GO:0002221 GO:0002252 GO:0002253 GO:0002376 GO:0002429 GO:0002682 GO:0002684 GO:0002697 GO:0002699 GO:0002752 GO:0002757 GO:0002758 GO:0002764 GO:0002768 GO:0002831 GO:0002833 GO:0003674 GO:0003676 GO:0003677 GO:0005488 GO:0005509 GO:0005515 GO:0005537 GO:0005575 GO:0005576 GO:0005581 GO:0005615 GO:0006508 GO:0006807 GO:0006950 GO:0006952 GO:0006955 GO:0006956 GO:0006959 GO:0007165 GO:0007166 GO:0008150 GO:0008152 GO:0009605 GO:0009607 GO:0009897 GO:0009987 GO:0019538 GO:0019730 GO:0030100 GO:0030246 GO:0031347 GO:0031349 GO:0032101 GO:0032103 GO:0032502 GO:0032879 GO:0032991 GO:0036094 GO:0042802 GO:0042806 GO:0043167 GO:0043169 GO:0043170 GO:0043207 GO:0044238 GO:0044419 GO:0045087 GO:0045088 GO:0045089 GO:0045807 GO:0046872 GO:0048029 GO:0048518 GO:0048522 GO:0048583 GO:0048584 GO:0050764 GO:0050766 GO:0050776 GO:0050778 GO:0050789 GO:0050794 GO:0050896 GO:0051049 GO:0051050 GO:0051128 GO:0051130 GO:0051707 GO:0060627 GO:0065007 GO:0070492 GO:0071704 GO:0080134 GO:0097159 GO:0097194 GO:0098542 GO:0098552 GO:0110165 GO:0120153 GO:1901564 GO:1902494 GO:1903027 GO:1903028 GO:1905286 GO:1905368 GO:1905369 GO:1905370
10584	collectin subfamily member 10	COLEC10 Aliases: CL-10 CL-L1	Homo sapiens (human)	9606	3MC syndrome 3 3MC syndrome Klippel-Feil syndrome Laron syndrome Richter's syndrome achondroplasia acute leukemia acute lymphoblastic leukemia acute myeloid leukemia allergic asthma asthma basal cell carcinoma blepharophimosis cancer carcinoma chronic lymphocytic leukemia cleft lip cleft palate cleidocranial dysplasia congenital ptosis craniosynostosis cryptorchidism essential thrombocythemia hepatocellular carcinoma humeroradial synostosis intellectual disability isolated cleft palate learning disability liver cancer lymphoblastic lymphoma lymphoplasmacytic lymphoma macroglobulinemia monoclonal gammopathy of uncertain significance multiple myeloma myelodysplastic syndrome obsolete lymphoplasmacytic lymphoma omphalocele ptosis radioulnar synostosis scoliosis sebaceous carcinoma sensorineural hearing loss spina bifida occulta spondylolisthesis sweat gland cancer umbilical hernia	DOID:0050747 DOID:0050908 DOID:0060225 DOID:0060249 DOID:0060260 DOID:0060261 DOID:0060321 DOID:0060327 DOID:0060467 DOID:0060577 DOID:0060901 DOID:0080073 DOID:0080147 DOID:0110213 DOID:10003 DOID:10348 DOID:1040 DOID:10426 DOID:1059 DOID:11383 DOID:12603 DOID:13994 DOID:162 DOID:1703 DOID:2095 DOID:2224 DOID:2340 DOID:2513 DOID:2841 DOID:305 DOID:3571 DOID:4480 DOID:4840 DOID:6682 DOID:674 DOID:684 DOID:7442 DOID:8927 DOID:9080 DOID:9119 DOID:9296 DOID:9415 DOID:9521 DOID:9538 DOID:9827 DOID:9952	Golgi apparatus activation of immune response activation of innate immune response anatomical structure development binding biological process involved in interspecies interaction between organisms biological regulation biological_process carbohydrate binding catalytic complex cell surface pattern recognition receptor signaling pathway cell surface receptor signaling pathway cellular anatomical entity cellular process cellular_component chemoattractant activity chemotaxis collagen trimer complement activation, lectin pathway complement activation cranial skeletal system development cytoplasm cytoplasmic vesicle defense response to other organism defense response developmental process endopeptidase complex endosome external side of plasma membrane extracellular region extracellular space humoral immune response immune effector process immune response-activating cell surface receptor signaling pathway immune response-activating signaling pathway immune response-regulating cell surface receptor signaling pathway immune response-regulating signaling pathway immune response immune system process innate immune response activating cell surface receptor signaling pathway innate immune response-activating signaling pathway innate immune response intracellular membrane-bounded organelle intracellular organelle intracellular vesicle late endosome locomotion macromolecule metabolic process mannose binding membrane-bounded organelle metabolic process molecular function activator activity molecular function regulator activity molecular_function monosaccharide binding multivesicular body nitrogen compound metabolic process organelle organic substance metabolic process organonitrogen compound metabolic process pattern recognition receptor signaling pathway peptidase complex positive chemotaxis positive regulation of biological process positive regulation of cellular component organization positive regulation of cellular process positive regulation of defense response positive regulation of endocytosis positive regulation of immune effector process positive regulation of immune response positive regulation of immune system process positive regulation of innate immune response positive regulation of opsonization positive regulation of phagocytosis positive regulation of response to biotic stimulus positive regulation of response to external stimulus positive regulation of response to stimulus positive regulation of transport primary metabolic process protein binding protein metabolic process protein-containing complex proteolysis receptor ligand activity regulation of biological process regulation of cellular component organization regulation of cellular process regulation of defense response regulation of endocytosis regulation of immune effector process regulation of immune response regulation of immune system process regulation of innate immune response regulation of localization regulation of opsonization regulation of phagocytosis regulation of response to biotic stimulus regulation of response to external stimulus regulation of response to stimulus regulation of response to stress regulation of transport regulation of vesicle-mediated transport response to biotic stimulus response to external biotic stimulus response to external stimulus response to other organism response to stimulus response to stress serine-type endopeptidase complex serine-type peptidase complex side of membrane signal transduction signaling receptor activator activity signaling receptor binding signaling receptor regulator activity small molecule binding taxis vesicle	GO:0001867 GO:0002218 GO:0002220 GO:0002221 GO:0002252 GO:0002253 GO:0002376 GO:0002429 GO:0002682 GO:0002684 GO:0002697 GO:0002699 GO:0002752 GO:0002757 GO:0002758 GO:0002764 GO:0002768 GO:0002831 GO:0002833 GO:0003674 GO:0005102 GO:0005488 GO:0005515 GO:0005537 GO:0005575 GO:0005576 GO:0005581 GO:0005615 GO:0005737 GO:0005768 GO:0005770 GO:0005771 GO:0005794 GO:0006508 GO:0006807 GO:0006935 GO:0006950 GO:0006952 GO:0006955 GO:0006956 GO:0006959 GO:0007165 GO:0007166 GO:0008150 GO:0008152 GO:0009605 GO:0009607 GO:0009897 GO:0009987 GO:0019538 GO:0030100 GO:0030246 GO:0030545 GO:0030546 GO:0031347 GO:0031349 GO:0031410 GO:0031982 GO:0032101 GO:0032103 GO:0032502 GO:0032879 GO:0032991 GO:0036094 GO:0040011 GO:0042056 GO:0042330 GO:0043170 GO:0043207 GO:0043226 GO:0043227 GO:0043229 GO:0043231 GO:0044238 GO:0044419 GO:0045087 GO:0045088 GO:0045089 GO:0045807 GO:0048018 GO:0048029 GO:0048518 GO:0048522 GO:0048583 GO:0048584 GO:0048856 GO:0050764 GO:0050766 GO:0050776 GO:0050778 GO:0050789 GO:0050794 GO:0050896 GO:0050918 GO:0051049 GO:0051050 GO:0051128 GO:0051130 GO:0051707 GO:0060627 GO:0065007 GO:0071704 GO:0080134 GO:0097708 GO:0098542 GO:0098552 GO:0098772 GO:0110165 GO:0140677 GO:1901564 GO:1902494 GO:1903027 GO:1903028 GO:1904888 GO:1905286 GO:1905368 GO:1905369 GO:1905370
1583	cytochrome P450 family 11 subfamily A member 1	CYP11A1 Aliases: P450SCC cholesterol monooxygenase (side-chain-cleaving)	Homo sapiens (human)	9606	3p deletion syndrome 46,XY sex reversal Addison's disease Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Angelman syndrome Bannayan-Riley-Ruvalcaba syndrome Bartter disease Cockayne syndrome Conn's syndrome Cornelia de Lange syndrome Cowden syndrome Dubowitz syndrome Fanconi anemia NFIA-related disorder Niemann-Pick disease Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Pick's disease Prader-Willi syndrome Reye syndrome Robinow syndrome SATB2-associated syndrome Seckel syndrome Sertoli cell-only syndrome Silver-Russell syndrome Smith-Magenis syndrome Waterhouse-Friderichsen syndrome X-linked Aarskog syndrome X-linked adrenal hypoplasia congenita X-linked spermatogenic failure 1 adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal cortical hypofunction adrenocortical carcinoma allergic asthma asthma atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect autism spectrum disorder autistic disorder autoimmune hepatitis autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome breast cancer breast carcinoma breast disease breast fibrocystic disease cancer cerebral degeneration cholera chondrodysplasia-pseudohermaphroditism syndrome choriocarcinoma chromosome 13q14 deletion syndrome chromosome 15q13.3 microdeletion syndrome chromosome 15q24 deletion syndrome chromosome 15q26-qter deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16p12.2-p11.2 deletion syndrome chromosome 17q12 deletion syndrome chromosome 17q23.1-q23.2 deletion syndrome chromosome 18q deletion syndrome chromosome 1q21.1 deletion syndrome chromosome 1q41-q42 deletion syndrome chromosome 2p16.1-p15 deletion syndrome chromosome 6pter-p24 deletion syndrome chromosome 8q21.11 deletion syndrome chromosome 9p deletion syndrome chronic ethmoiditis chronic sphenoidal sinusitis congenital adrenal hyperplasia congenital adrenal insufficiency cryptorchidism diabetes mellitus disorder of sexual development distal 10q deletion syndrome endometrial cancer endometrial carcinoma endometrial hyperplasia endometriosis of uterus endometriosis epilepsy esophagus squamous cell carcinoma essential hypertension focal epilepsy follicular adenoma gynecomastia hepatitis hepatocellular carcinoma hermaphroditism herpes zoster hyperandrogenism hyperglycemia hypertension hypertrophy of breast hypogonadism hypogonadotropic hypogonadism 23 with or without anosmia hypospadias inclusion body myositis infant gynecomastia intrinsic asthma kidney disease lactic acidosis lactocele lesion of sciatic nerve liver cancer microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcystic adenoma microglandular adenosis nephrosis nodular prostate obesity osteoporosis ovarian hyperstimulation syndrome papillary adenoma partial motor epilepsy patent foramen ovale placenta cancer placental insufficiency polycystic ovary syndrome primary hyperaldosteronism prostate cancer prostate carcinoma prostatic adenoma pseudohermaphroditism sciatic neuropathy sphingolipidosis

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