GlyCosmos Portal

Source	Last Updated
GlyConnect	April 19, 2023
GlycoProtDB	October 1, 2021
GlyGen	June 4, 2024
The O-GlcNAc Database	June 3, 2024
UniProt	June 4, 2024

Displaying entries **451 - 475** of **126547** in total

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UniProt ID	Protein Name	Gene Symbol	Organism	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology ▲
P16152	Carbonyl reductase [NADPH] 1	CBR1 CBR CRN SDR21C1	Homo sapiens (human)	1	2	Crohn's colitis Crohn's disease Down syndrome Marfan syndrome acute myeloid leukemia acute promyelocytic leukemia adenocarcinoma adenoma amyotrophic lateral sclerosis bile duct adenocarcinoma bile duct carcinoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cannabis abuse cannabis dependence carcinoma cardiomyopathy cervical cancer cholangiocarcinoma chordoma chorioamnionitis chronic kidney disease colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma cribriform carcinoma decubitus ulcer diabetes mellitus diabetic ketoacidosis embryoma endomyocardial fibrosis familial adenomatous polyposis 1 familial adenomatous polyposis gastric tubular adenocarcinoma gastrointestinal system cancer giant cell glioblastoma glioblastoma glucocorticoid-remediable aldosteronism glucose intolerance granular cell carcinoma head and neck squamous cell carcinoma hepatocellular carcinoma high grade glioma hypertrophic cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease intracranial aneurysm intrahepatic cholangiocarcinoma irritant dermatitis islet cell tumor large intestine cancer leukemia liver cancer liver cirrhosis lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lung oat cell carcinoma lung small cell carcinoma lung squamous cell carcinoma obesity obsolete type 1 diabetes mellitus 9 ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma prediabetes syndrome primary hypertrophic osteoarthropathy progressive muscular atrophy prostate cancer prostate carcinoma sarcomatoid carcinoma secondary hypertrophic osteoarthropathy situs inversus steatotic liver disease stomach cancer stomach carcinoma thyroid gland medullary carcinoma tongue squamous cell carcinoma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma 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 ulcerative colitis ureteral obstruction uterus leiomyosarcoma vitiligo
P55259	Pancreatic secretory granule membrane major glycoprotein GP2	GP2	Homo sapiens (human)	10	8	Crohn's colitis Crohn's disease Ebola hemorrhagic fever acute myeloid leukemia classic galactosemia galactokinase deficiency galactosemia gallbladder disease gastroenteritis gastrointestinal system disease hepatitis C herpes zoster inflammatory bowel disease 1 inflammatory bowel disease intestinal disease liver disease microphthalmia obsolete Matthew-Wood syndrome pancreatic cancer pancreatic carcinoma proctitis ulcerative colitis
O75330	Hyaluronan mediated motility receptor	HMMR IHABP RHAMM	Homo sapiens (human)	4	1	Crohn's colitis Crohn's disease Ewing sarcoma Richter's syndrome acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia adult lymphoma agranulocytosis anaplastic astrocytoma arthritis arthropathy atrophy of testis autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome bladder carcinoma brain cancer breast cancer breast carcinoma cancer carcinoma central nervous system cancer central nervous system lymphoma cerebral primitive neuroectodermal tumor cervical adenocarcinoma cervical cancer cervix carcinoma childhood cerebral astrocytoma childhood leukemia childhood lymphoma choriocarcinoma chromophobe renal cell carcinoma chromosome 5q deletion syndrome chronic leukemia chronic lymphocytic leukemia chronic myeloid leukemia clear cell renal cell carcinoma collecting duct carcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma diffuse large B-cell lymphoma embryoma endometrial cancer endometrial carcinoma epithelioid leiomyosarcoma epithelioid malignant peripheral nerve sheath tumor fibrillary astrocytoma gemistocytic astrocytoma gestational trophoblastic neoplasm giant cell glioblastoma glioblastoma gliosarcoma hepatitis B hepatocellular carcinoma high grade glioma inflammatory bowel disease 1 inflammatory bowel disease invasive ductal carcinoma juvenile pilocytic astrocytoma large intestine cancer leiomyosarcoma leukemia leukopenia liver cancer luminal breast carcinoma A lung adenocarcinoma lung benign neoplasm lung cancer lung disease lung non-small cell carcinoma lymphoblastic lymphoma lymphoma lymphoplasmacytic lymphoma macroglobulinemia malignant astrocytoma malignant peripheral nerve sheath tumor medulloblastoma medulloepithelioma microphthalmia mixed glioma multiple myeloma myxoid leiomyosarcoma neurilemmoma neuroectodermal tumor neurofibrosarcoma neutropenia nodular prostate nonpapillary renal cell carcinoma obsolete Matthew-Wood syndrome obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered obsolete lymphoplasmacytic lymphoma obsolete ymphosarcoma ossifying fibroma osteoarthritis ovarian cancer ovarian carcinoma oxyphilic adenoma pancreatic adenocarcinoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma pilocytic astrocytoma placenta cancer polycystic ovary syndrome prostate cancer prostate carcinoma prostatic adenoma protoplasmic astrocytoma renal carcinoma renal cell carcinoma renal oncocytoma rheumatoid arthritis sarcomatoid carcinoma sarcomatoid renal cell carcinoma seminoma severe congenital neutropenia sporadic breast cancer squamous cell carcinoma stomach cancer stomach carcinoma subependymal giant cell astrocytoma supratentorial primitive neuroectodermal tumor testicular cancer testicular germ cell cancer testis seminoma tongue squamous cell carcinoma transitional cell carcinoma ulcerative colitis urinary bladder cancer uterine corpus cancer
O95864	Acyl-CoA 6-desaturase	FADS2	Homo sapiens (human)	0	1	Crohn's colitis Crohn's disease Fabry disease Wolman disease abdominal obesity-metabolic syndrome 1 acquired immunodeficiency syndrome acute myocardial infarction age related macular degeneration allergic asthma alopecia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis atrial fibrillation attention deficit hyperactivity disorder autism spectrum disorder autistic disorder bipolar I disorder bipolar disorder breast cancer breast carcinoma cancer cardiovascular system disease cerebral infarction cerebrovascular disease chronic kidney disease chylomicron retention disease colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma congenital hypothyroidism congestive heart failure coronary artery disease coronary thrombosis degeneration of macula and posterior pole depressive disorder dermatitis diabetes mellitus diabetic ketoacidosis embryoma giant cell glioblastoma glioblastoma glomerulonephritis heart disease hemochromatosis type 1 hemochromatosis hepatitis hepatocellular carcinoma high grade glioma human immunodeficiency virus infectious disease hypothyroidism inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma kidney disease kwashiorkor large intestine cancer laryngeal squamous cell carcinoma lipid storage disease liver cancer lung benign neoplasm lung carcinoma macular degeneration major depressive disorder marasmus melancholic depression myocardial infarction myxedema nephritis nephrosis neurotic disorder nutmeg liver nutrition disease obesity obsolete melancholia polycystic ovary syndrome progressive pseudorheumatoid arthropathy of childhood protein-energy malnutrition psoriatic arthritis pyoureter rheumatoid arthritis schizophrenia silent myocardial infarction skin disease steatotic liver disease stomach cancer stomach carcinoma type 2 diabetes mellitus ulcerative colitis vitiligo
Q9C0K1	Metal cation symporter ZIP8	SLC39A8 BIGM103 ZIP8	Homo sapiens (human)	2	2	Crohn's colitis Crohn's disease Huntington's disease-like 1 Huntington's disease-like 2 Huntington's disease Laron syndrome Leigh disease Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Wilson disease achondroplasia acute chest syndrome alcohol dependence alcohol use disorder alternating hemiplegia of childhood androgen insensitivity syndrome anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy astigmatism atherosclerosis atrial fibrillation attention deficit hyperactivity disorder autonomic neuropathy bacterial sepsis breast cancer breast carcinoma cancer central nervous system disease cerebral infarction cerebrovascular disease childhood leukemia colorectal cancer colorectal carcinoma congenital disorder of glycosylation Ii congenital disorder of glycosylation In congenital disorder of glycosylation type I congenital disorder of glycosylation type IIn congenital disorder of glycosylation congenital nystagmus congestive heart failure coronary artery disease craniosynostosis dermatitis diabetes mellitus diabetic ketoacidosis dissociated nystagmus dystonia epilepsy essential hypertension focal hand dystonia generalized dystonia hemochromatosis hydrocephalus hyperopia hypertension hypertropia idiopathic scoliosis inflammatory bowel disease 1 inflammatory bowel disease intellectual disability iron metabolism disease kwashiorkor large intestine cancer learning disability left ventricular noncompaction leukemia macrocytic anemia marasmus mechanical strabismus mitochondrial metabolism disease mitochondrial myopathy nervous system disease neuroblastoma nicotine dependence nutrition disease obsolete infantile epileptic encephalopathy ophthalmoplegia osteoarthritis pathologic nystagmus protein-energy malnutrition pulmonary tuberculosis schizophrenia sensorineural hearing loss spontaneous ocular nystagmus strabismus systemic lupus erythematosus tuberculosis tuberculous pneumothorax type 2 diabetes mellitus ulcerative colitis visual epilepsy
Q13615	Myotubularin-related protein 3	MTMR3 KIAA0371 ZFYVE10	Homo sapiens (human)	3	1	Crohn's colitis Crohn's disease IgA glomerulonephritis acute myeloid leukemia breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer central nervous system cancer cleft lip cleft palate colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma dental caries dentin caries diabetes mellitus embryoma gliosarcoma herpes simplex high grade glioma inflammatory bowel disease 1 inflammatory bowel disease isolated cleft palate large intestine cancer lung benign neoplasm lung cancer lung carcinoma mixed glioma rheumatoid arthritis stomach cancer stomach carcinoma systemic lupus erythematosus type 2 diabetes mellitus ulcerative colitis
Q9BZM6	UL16-binding protein 1	ULBP1 N2DL1 RAET1I	Homo sapiens (human)	1	0	Crohn's colitis Crohn's disease Kawasaki disease adult lymphoma bone osteosarcoma bronchus cancer bronchus carcinoma cancer embryoma giant cell glioblastoma glioblastoma head and neck squamous cell carcinoma hepatitis C hepatocellular carcinoma inflammatory bowel disease 1 inflammatory bowel disease liver cancer lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma osteosarcoma stomach cancer stomach carcinoma ulcerative colitis
O15496	Group 10 secretory phospholipase A2	PLA2G10	Homo sapiens (human)	1	1	Crohn's colitis Crohn's disease Norum disease Tangier disease abdominal aortic aneurysm abetalipoproteinemia adenocarcinoma adenoma adult respiratory distress syndrome allergic asthma alternating hemiplegia of childhood anaplastic astrocytoma arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease arthritis arthropathy ascending cholangitis asthma atherosclerosis autonomic neuropathy bacterial infectious disease bacterial sepsis bipolar disorder breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer cardiovascular system disease central nervous system disease childhood cerebral astrocytoma cholangitis cholecystolithiasis choledocholithiasis cholelithiasis choreaacanthocytosis chronic kidney disease chronic obstructive pulmonary disease colitis colon adenocarcinoma colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma coronary artery disease craniosynostosis cribriform carcinoma diabetes mellitus diabetic ketoacidosis embryoma epilepsy familial adenomatous polyposis 1 familial adenomatous polyposis familial hyperlipidemia fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma granular cell carcinoma heart disease hepatocellular carcinoma high grade glioma hypolipoproteinemia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma islet cell tumor juvenile pilocytic astrocytoma large intestine cancer liver cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung non-small cell carcinoma lymphopenia malignant astrocytoma nervous system disease newborn respiratory distress syndrome nutmeg liver obsolete major affective disorder 1 obsolete major affective disorder 2 parapsoriasis pilocytic astrocytoma pleurisy primary sclerosing cholangitis prostate cancer prostate carcinoma protoplasmic astrocytoma psoriasis pulmonary coin lesion pustulosis of palm and sole rheumatoid arthritis schizophrenia sclerosing cholangitis subependymal giant cell astrocytoma suppurative cholangitis tuberculosis tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis visual epilepsy
P51649	Succinate-semialdehyde dehydrogenase, mitochondrial	ALDH5A1 SSADH	Homo sapiens (human)	0	1	Crohn's colitis Crohn's disease Rett syndrome X-linked dystonia-parkinsonism Zika fever age related macular degeneration agnosia anxiety disorder autistic disorder carcinoma degeneration of macula and posterior pole developmental coordination disorder dystonia 12 dystonia 16 dystonia 21 dystonia 25 dystonia 27 dystonia 5 dystonia epilepsy focal dystonia focal hand dystonia generalized anxiety disorder generalized dystonia generalized epilepsy with febrile seizures plus hypertropia idiopathic generalized epilepsy inflammatory bowel disease 1 inflammatory bowel disease intellectual disability juvenile myoclonic epilepsy learning disability lingual-facial-buccal dyskinesia macular degeneration mechanical strabismus movement disease myoclonic dystonia 11 ophthalmoplegia ovarian cancer ovarian carcinoma psychotic disorder schizoaffective disorder schizophreniform disorder status epilepticus strabismus succinic semialdehyde dehydrogenase deficiency syndromic X-linked intellectual disability 94 torsion dystonia 13 torsion dystonia 17 torsion dystonia 1 torsion dystonia 2 torsion dystonia 4 torsion dystonia 6 torsion dystonia with onset in infancy tuberculosis ulcerative colitis visual epilepsy
Q5QGZ9	C-type lectin domain family 12 member A	CLEC12A CLL1 DCAL2 MICL	Homo sapiens (human)	3	0	Crohn's colitis Crohn's disease Richter's syndrome acute leukemia acute lymphoblastic leukemia acute monocytic leukemia acute myeloid leukemia arthritis arthropathy cancer childhood leukemia chronic fatigue syndrome chronic lymphocytic leukemia chronic myeloid leukemia dermatophytosis embryoma encephalitis encephalomyelitis essential thrombocythemia fungal infectious disease immune system disease inflammatory bowel disease 1 inflammatory bowel disease leukemia lymphoblastic lymphoma lymphocytic choriomeningitis lymphoplasmacytic lymphoma macroglobulinemia monoclonal gammopathy of uncertain significance multiple myeloma multiple sclerosis myelitis myelodysplastic syndrome obsolete lymphoplasmacytic lymphoma rheumatoid arthritis ulcerative colitis
O75636	Ficolin-3	FCN3 FCNH HAKA1	Homo sapiens (human)	1	14	Crohn's colitis Crohn's disease abdominal aortic aneurysm acute myocardial infarction amyotrophic lateral sclerosis anogenital venereal wart arteriosclerotic cardiovascular disease atherosclerosis bacterial infectious disease cancer common wart complement component 2 deficiency complement component 4a deficiency complement component 4b deficiency complement component 6 deficiency complement component 7 deficiency complement component 9 deficiency complement deficiency coronary artery disease coronary thrombosis diabetes mellitus essential hypertension gestational diabetes hepatocellular carcinoma hypertension inflammatory bowel disease 1 inflammatory bowel disease interstitial lung disease leprosy liver cancer lupus nephritis myocardial infarction ovarian cancer ovarian carcinoma placental insufficiency primary immunodeficiency disease progressive muscular atrophy sarcoidosis scleroderma silent myocardial infarction systemic lupus erythematosus systemic scleroderma tuberculosis type 2 diabetes mellitus type I complement component 8 deficiency type II complement component 8 deficiency ulcerative colitis
Q10471	Polypeptide N-acetylgalactosaminyltransferase 2	GALNT2	Homo sapiens (human)	10	3	Crohn's colitis Crohn's disease abdominal obesity-metabolic syndrome 1 achondroplasia acute myeloid leukemia arteriosclerotic cardiovascular disease atherosclerosis cancer central nervous system cancer cerebral infarction cerebrovascular disease cholesterol-ester transfer protein deficiency chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma coronary artery disease diabetes mellitus embryoma essential hypertension familial hyperlipidemia gastric adenocarcinoma gliosarcoma hepatocellular carcinoma high grade glioma hyperalphalipoproteinemia 1 hyperglycemia hypertension hypochondroplasia inflammatory bowel disease 1 inflammatory bowel disease liver cancer mixed glioma nutmeg liver obesity papillary renal cell carcinoma renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma schizophrenia squamous cell carcinoma stomach cancer stomach carcinoma temporal arteritis tongue squamous cell carcinoma type 2 diabetes mellitus ulcerative colitis
P21217	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3	FUT3 FT3B LE	Homo sapiens (human)	2	0	Crohn's colitis Crohn's disease achalasia adult respiratory distress syndrome alopecia anemia arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis bile duct adenocarcinoma bile duct carcinoma bipolar disorder bone osteosarcoma breast cancer breast carcinoma bronchus cancer bronchus carcinoma cancer carcinoma childhood leukemia childhood osteosarcoma cholangiocarcinoma chromophobe renal cell carcinoma clear cell renal cell carcinoma colitis collecting duct carcinoma colon adenocarcinoma colon carcinoma colorectal cancer colorectal carcinoma congenital diaphragmatic hernia coronary artery disease cystic fibrosis depressive disorder dilated cardiomyopathy 1A dilated cardiomyopathy embryoma esophagitis gastroenteritis gastroesophageal reflux disease herpes simplex hiatus hernia ileitis ileocolitis immunoglobulin alpha deficiency inflammatory bowel disease 1 inflammatory bowel disease intrahepatic cholangiocarcinoma invasive ductal carcinoma large intestine cancer leech infestation leukemia lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma lung disease macrocytic anemia major depressive disorder megaesophagus melancholic depression microphthalmia myiasis nonpapillary renal cell carcinoma nutmeg liver obsolete Matthew-Wood syndrome obsolete melancholia osteosarcoma pancreatic cancer pancreatic carcinoma papillary renal cell carcinoma peptic esophagitis primary sclerosing cholangitis prostate cancer prostate carcinoma renal carcinoma renal cell carcinoma rumination disorder sarcomatoid carcinoma sarcomatoid renal cell carcinoma sclerosing cholangitis selective IgA deficiency disease stomach cancer stomach carcinoma toxoplasmosis ulcerative colitis
P48304	Lithostathine-1-beta	REG1B PSPS2 REGL	Homo sapiens (human)	1	0	Crohn's colitis Crohn's disease acute pancreatitis bronchus cancer bronchus carcinoma cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer colorectal carcinoma diabetes mellitus diabetic ketoacidosis gastrointestinal system disease inflammatory bowel disease 1 inflammatory bowel disease intestinal disease kwashiorkor large intestine cancer lung adenocarcinoma lung benign neoplasm lung cancer lung carcinoma marasmus microphthalmia nutrition disease obsolete Matthew-Wood syndrome obsolete type 1 diabetes mellitus 9 pancreatitis protein-energy malnutrition squamous cell carcinoma tongue squamous cell carcinoma 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 ulcerative colitis
Q8WWA0	Intelectin-1	ITLN1 INTL ITLN LFR	Homo sapiens (human)	1	0	Crohn's colitis Crohn's disease adenocarcinoma adenoma allergic asthma arteriosclerotic cardiovascular disease asthma atherosclerosis atopic dermatitis bacterial infectious disease benign mesothelioma cancer carcinoma coronary artery disease cribriform carcinoma dermatitis diabetes mellitus diabetic ketoacidosis granular cell carcinoma inflammatory bowel disease 1 inflammatory bowel disease intrinsic asthma malignant epithelial mesothelioma malignant mesothelioma multiple sclerosis neuroblastoma nutmeg liver obesity osteoporosis parapsoriasis pneumonia polycystic ovary syndrome primary biliary cholangitis psoriasis pustulosis of palm and sole sarcomatoid carcinoma stomach cancer stomach carcinoma tubular adenocarcinoma type 2 diabetes mellitus ulcerative colitis
Q7LFX5	Carbohydrate sulfotransferase 15	CHST15 BRAG GALNAC4S6ST KIAA0598	Homo sapiens (human)	4	2	Crohn's colitis Crohn's disease adult astrocytic tumor anaplastic astrocytoma breast cancer breast carcinoma cancer childhood astrocytic tumor childhood cerebral astrocytoma colitis embryoma endometrial cancer endometrial carcinoma esophageal cancer esophageal carcinoma esophagus squamous cell carcinoma fibrillary astrocytoma gastroenteritis gemistocytic astrocytoma giant cell glioblastoma glioblastoma high grade glioma idiopathic interstitial pneumonia ileitis ileocolitis inflammatory bowel disease 1 inflammatory bowel disease juvenile pilocytic astrocytoma lung benign neoplasm malignant astrocytoma microphthalmia obsolete Matthew-Wood syndrome ovarian cancer ovarian carcinoma pancreatic cancer pancreatic carcinoma pancreatic ductal adenocarcinoma patent ductus arteriosus pilocytic astrocytoma postinflammatory pulmonary fibrosis protoplasmic astrocytoma pulmonary fibrosis subependymal giant cell astrocytoma ulcerative colitis uterine corpus cancer
Q9Y2C2	Uronyl 2-sulfotransferase	UST DS2ST	Homo sapiens (human)	7	10	Crohn's colitis Crohn's disease ankylosing spondylitis arthritis arthropathy atrial fibrillation cancer endometriosis of ovary endometriosis of uterus endometriosis inflammatory bowel disease 1 inflammatory bowel disease osteoarthritis ulcerative colitis
Q9H3Q3	Galactose-3-O-sulfotransferase 2	GAL3ST2 GP3ST	Homo sapiens (human)	6	0	Crohn's colitis Crohn's disease ankylosing spondylitis ascending cholangitis cholangitis inflammatory bowel disease 1 inflammatory bowel disease parapsoriasis primary sclerosing cholangitis prostate cancer prostate carcinoma psoriasis pustulosis of palm and sole sclerosing cholangitis suppurative cholangitis ulcerative colitis
Q8IV20	Purine nucleoside phosphorylase LACC1	LACC1 C13orf31 FAMIN	Homo sapiens (human)	0	1	Crohn's colitis Crohn's disease anterior uveitis arthritis arthropathy exanthem inflammatory bowel disease 1 inflammatory bowel disease juvenile rheumatoid arthritis pericarditis ulcerative colitis
P11310	Medium-chain specific acyl-CoA dehydrogenase, mitochondrial	ACADM	Homo sapiens (human)	1	1	D-bifunctional protein deficiency Reye syndrome brain edema breast cancer breast carcinoma cancer carnitine palmitoyltransferase I deficiency chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma congestive heart failure cystinuria diarrhea disease of metabolism distal arthrogryposis epilepsy familial periodic paralysis galactosemia gallbladder disease glucosephosphate dehydrogenase deficiency glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease hepatitis hydrocephalus hypoglycemia hypoglycemic coma inherited metabolic disorder isolated elevated serum creatine phosphokinase levels lactic acidosis large intestine cancer liver disease long QT syndrome medium chain acyl-CoA dehydrogenase deficiency metabolic dysfunction-associated steatotic liver disease myopathy neuroblastoma neurodegenerative disease nonpapillary renal cell carcinoma obesity papillary renal cell carcinoma perinatal necrotizing enterocolitis phenylketonuria pseudosarcomatous fibromatosis psoriatic arthritis renal carcinoma renal cell carcinoma sarcomatoid renal cell carcinoma sick sinus syndrome steatotic liver disease sudden infant death syndrome systemic primary carnitine deficiency disease urea cycle disorder visual epilepsy
P08237	ATP-dependent 6-phosphofructokinase, muscle type	PFKM PFKX	Homo sapiens (human)	2	1	D-bifunctional protein deficiency adenocarcinoma adenoma anemia breast cancer breast carcinoma cancer carcinoma carnitine palmitoyltransferase I deficiency cholecystolithiasis choledocholithiasis cholelithiasis coronary artery disease cribriform carcinoma cystinuria diabetes mellitus embryoma galactosemia giant cell glioblastoma glioblastoma glucosephosphate dehydrogenase deficiency glycogen storage disease IV glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease VI glycogen storage disease VII glycogen storage disease gout granular cell carcinoma hemolytic anemia hepatocellular carcinoma high grade glioma hyperglycemia hyperuricemia liver cancer liver carcinoma macrocytic anemia pancreatic cancer pancreatic carcinoma pseudosarcomatous fibromatosis renal tubular acidosis sarcomatoid carcinoma schizophrenia tuberculosis tubular adenocarcinoma type 2 diabetes mellitus
Q9Y2B1	Ribitol-5-phosphate xylosyltransferase 1	RXYLT1 TMEM5	Homo sapiens (human)	4	2	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Turner syndrome Walker-Warburg syndrome 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 cataract coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital disorder of glycosylation congenital muscular dystrophy-dystroglycanopathy type A10 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism distal myopathy epilepsy facioscapulohumeral muscular dystrophy fundus dystrophy glaucoma gonadal dysgenesis hydranencephaly hydrocephalus intellectual disability learning disability limb-girdle muscular dystrophy lissencephaly microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type visual epilepsy
Q8NAT1	Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2	POMGNT2 AGO61 C3orf39 EOGTL GTDC2	Homo sapiens (human)	6	8	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome acute myeloid leukemia 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 cataract coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A8 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism distal myopathy epilepsy facioscapulohumeral muscular dystrophy fundus dystrophy glaucoma hydranencephaly hydrocephalus intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly malaria microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rippling muscle disease 2 senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly syndromic X-linked intellectual disability Najm type visual epilepsy
Q8NCR0	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2	B3GALNT2	Homo sapiens (human)	2	0	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia 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 bilateral optic nerve hypoplasia blindness breast cancer breast carcinoma cancer cataract cerebral degeneration choreatic disease coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A11 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism depressive disorder developmental coordination disorder distal myopathy dysthymic disorder dystonia embryoma epilepsy facioscapulohumeral muscular dystrophy familial periodic paralysis focal epilepsy fundus dystrophy glaucoma hepatocellular carcinoma holoprosencephaly 1 holoprosencephaly hydranencephaly hydrocephalus hypertropia intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lingual-facial-buccal dyskinesia lissencephaly liver cancer major depressive disorder mechanical strabismus melancholic depression meningocele microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myopia neurotic disorder 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 infantile epileptic encephalopathy obsolete melancholia obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy partial motor epilepsy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal detachment rippling muscle disease 2 senile degeneration of brain sensorineural hearing loss septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly speech disorder stereotypic movement disorder strabismus syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Najm type syndromic X-linked intellectual disability type 10 visual epilepsy
Q9H5K3	Protein O-mannose kinase	POMK SGK196	Homo sapiens (human)	5	9	Dandy-Walker syndrome Duchenne muscular dystrophy Fukuyama congenital muscular dystrophy Joubert syndrome Miller-Dieker lissencephaly syndrome Peters anomaly Walker-Warburg syndrome agnosia 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 bilateral optic nerve hypoplasia blindness cardiomyopathy cataract coloboma communicating hydrocephalus complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations 7 congenital muscular dystrophy-dystroglycanopathy type A12 congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy cornea plana cortical dysplasia-focal epilepsy syndrome cryptorchidism developmental coordination disorder distal myopathy endomyocardial fibrosis epilepsy facioscapulohumeral muscular dystrophy fundus dystrophy glaucoma hydranencephaly hydrocephalus hypertrophic cardiomyopathy hypertropia intellectual disability isolated elevated serum creatine phosphokinase levels learning disability limb-girdle muscular dystrophy lissencephaly lung small cell carcinoma mechanical strabismus megalocornea microcephaly microphthalmia muscular dystrophy-dystroglycanopathy type B1 muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopia 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 obstructive hydrocephalus oculopharyngeal muscular dystrophy ophthalmoplegia optic atrophy pontocerebellar hypoplasia type 2D pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia type 9 recurrent corneal erosion retinal degeneration retinal detachment rippling muscle disease 2 scoliosis senile degeneration of brain septooptic dysplasia short-rib thoracic dysplasia 14 with polydactyly strabismus syndromic X-linked intellectual disability Najm type visual epilepsy

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