GlyCosmos Portal

GlyCosmos Glycoproteins

Integrated list of glycoproteins extracted from UniProt and annotated with glycosylation data from GlyGen, GlyConnect, GlycoProtDB and The O-GlcNAc Database. For each entry, information such as glycosylation site, glycans, diseases, 3D structures, and pathway information are available.

Source	Last Updated
GlyConnect	April 19, 2023
GlycoProtDB	October 1, 2021
GlyGen	October 30, 2024
The O-GlcNAc Database	August 9, 2024
UniProt	October 29, 2024

Displaying entries **1 - 25** of **18496** in total

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UniProt ID	Protein Name	Gene Symbol	Organism	Taxonomy ID	No. of Glycosylation Sites	No. of GlyTouCan IDs	GlyTouCan ID	Disease Ontology	Disease Ontology ID	Gene Ontology	Gene Ontology ID
A6NFQ7	Divergent paired-related homeobox	DPRX	Homo sapiens (human)	9606	0	1	G49108TO			DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding chromatin nucleus regulation of transcription by RNA polymerase II sequence-specific double-stranded DNA binding	GO:0000785 GO:0000978 GO:0000981 GO:0005634 GO:0006357 GO:1990837
Q9UI30	Multifunctional methyltransferase subunit TRM112-like protein	TRMT112	Homo sapiens (human)	9606	0	1	G49108TO			cytosol nucleoplasm peptidyl-glutamine methylation perinuclear region of cytoplasm positive regulation of rRNA processing protein heterodimerization activity protein methyltransferase activity protein-containing complex rRNA (guanine-N7)-methylation rRNA methylation tRNA methylation tRNA methyltransferase activator activity transcription initiation-coupled chromatin remodeling	GO:0005654 GO:0005829 GO:0008276 GO:0018364 GO:0030488 GO:0031167 GO:0032991 GO:0045815 GO:0046982 GO:0048471 GO:0070476 GO:0141106 GO:2000234
A0A383S2I9	MHC class I antigen	HLA-C	Homo sapiens (human)	9606	1	0				ER to Golgi transport vesicle membrane antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent antigen processing and presentation of endogenous peptide antigen via MHC class Ib early endosome membrane external side of plasma membrane extracellular space immune response lumenal side of endoplasmic reticulum membrane peptide antigen binding phagocytic vesicle membrane positive regulation of T cell mediated cytotoxicity recycling endosome membrane signaling receptor binding	GO:0001916 GO:0002476 GO:0002486 GO:0005102 GO:0005615 GO:0006955 GO:0009897 GO:0012507 GO:0030670 GO:0031901 GO:0042605 GO:0055038 GO:0098553
Q13574	Diacylglycerol kinase zeta	DGKZ DAGK6	Homo sapiens (human)	9606	0	1	G49108TO	Clouston syndrome acute myocardial infarction adenocarcinoma adenoma adult lymphoma aplastic anemia bone osteosarcoma cancer colon cancer colon carcinoma colonic benign neoplasm colorectal cancer coronary thrombosis cribriform carcinoma diabetes mellitus embryoma giant cell glioblastoma glioblastoma granular cell carcinoma high grade glioma large intestine cancer myocardial infarction osteosarcoma pancytopenia prostate cancer prostate carcinoma pure red-cell aplasia schizophrenia silent myocardial infarction tubular adenocarcinoma type 2 diabetes mellitus	DOID:10283 DOID:10286 DOID:11847 DOID:12449 DOID:12450 DOID:1340 DOID:14693 DOID:1520 DOID:162 DOID:219 DOID:235 DOID:299 DOID:3068 DOID:3070 DOID:3074 DOID:3347 DOID:3376 DOID:4766 DOID:4903 DOID:4929 DOID:5419 DOID:5672 DOID:5675 DOID:5825 DOID:5844 DOID:5854 DOID:657 DOID:9256 DOID:9351 DOID:9352 DOID:9408	ATP binding ATP-dependent diacylglycerol kinase activity alkylglycerol kinase activity cell migration cytoplasm cytosol diacylglycerol metabolic process glycerolipid metabolic process intracellular signal transduction kinase activity lamellipodium lipid kinase activity lipid phosphorylation metal ion binding mitotic G1 DNA damage checkpoint signaling negative regulation of T cell receptor signaling pathway negative regulation of mitotic cell cycle nuclear speck nucleus phosphatidic acid biosynthetic process plasma membrane platelet activation protein kinase C-activating G protein-coupled receptor signaling pathway regulation of synaptic transmission, glutamatergic	GO:0001727 GO:0004143 GO:0005524 GO:0005634 GO:0005737 GO:0005829 GO:0005886 GO:0006654 GO:0007205 GO:0016301 GO:0016477 GO:0016607 GO:0030027 GO:0030168 GO:0031571 GO:0035556 GO:0045930 GO:0046339 GO:0046486 GO:0046834 GO:0046872 GO:0047649 GO:0050860 GO:0051966
Q96RL7	Intermembrane lipid transfer protein VPS13A	VPS13A CHAC KIAA0986	Homo sapiens (human)	9606	2	14	G06356OH G20210JR G23294PN G25418HZ G25451PN G44215PV G48584BU G49108TO G50045TK G62765YT G72398FA G80223IX G80920RR G84452RH			Golgi apparatus Golgi to endosome transport autophagy cytosol endoplasmic reticulum membrane endosome membrane extrinsic component of membrane flagellated sperm motility lipid droplet lipid transport locomotory behavior lysosomal membrane lysosomal protein catabolic process mitochondria-associated endoplasmic reticulum membrane mitochondrial membrane mitochondrial outer membrane nervous system development neuronal dense core vesicle lumen protein localization protein retention in Golgi apparatus protein targeting to vacuole social behavior sperm midpiece sperm mitochondrion organization	GO:0005741 GO:0005765 GO:0005789 GO:0005794 GO:0005811 GO:0005829 GO:0006623 GO:0006869 GO:0006895 GO:0006914 GO:0007399 GO:0007626 GO:0008104 GO:0010008 GO:0019898 GO:0030317 GO:0030382 GO:0031966 GO:0035176 GO:0044233 GO:0045053 GO:0097225 GO:0099013 GO:1905146
Q9UP95	Solute carrier family 12 member 4	SLC12A4 KCC1	Homo sapiens (human)	9606	5	7	G39471UU G46503DX G49108TO G62765YT G67164EE G80669SJ G80920RR			ATP binding ammonium import across plasma membrane ammonium transmembrane transporter activity cell volume homeostasis chemical synaptic transmission chloride ion homeostasis chloride transmembrane transport lysosomal membrane membrane monoatomic ion transport plasma membrane potassium ion homeostasis potassium ion import across plasma membrane potassium ion transmembrane transport potassium protein kinase binding synapse	GO:0005524 GO:0005765 GO:0005886 GO:0006811 GO:0006884 GO:0007268 GO:0008519 GO:0015379 GO:0016020 GO:0019901 GO:0045202 GO:0055064 GO:0055075 GO:0071805 GO:0140157 GO:1902476 GO:1990573
Q9ULC5	Long-chain-fatty-acid--CoA ligase 5	ACSL5 ACS5 FACL5	Homo sapiens (human)	9606	2	2	G49108TO G62765YT	acute chest syndrome acute myeloid leukemia acute myocardial infarction adenocarcinoma adenoma anaplastic astrocytoma basal cell carcinoma breast cancer breast carcinoma cancer carcinoma celiac disease central nervous system cancer childhood cerebral astrocytoma colorectal cancer colorectal carcinoma congestive heart failure coronary thrombosis cribriform carcinoma embryoma endometrial carcinoma essential thrombocythemia familial hyperlipidemia fibrillary astrocytoma gemistocytic astrocytoma giant cell glioblastoma glioblastoma gliosarcoma granular cell carcinoma hematologic cancer high grade glioma juvenile pilocytic astrocytoma large intestine cancer lung benign neoplasm lung carcinoma malignant astrocytoma migraine mixed glioma myelodysplastic syndrome myocardial infarction obesity pilocytic astrocytoma protoplasmic astrocytoma sarcomatoid carcinoma sebaceous carcinoma silent myocardial infarction steatotic liver disease subependymal giant cell astrocytoma sweat gland cancer systemic lupus erythematosus tubular adenocarcinoma	DOID:0050908 DOID:0080199 DOID:10608 DOID:1168 DOID:11847 DOID:1584 DOID:1612 DOID:162 DOID:2095 DOID:2224 DOID:2513 DOID:2531 DOID:2871 DOID:299 DOID:305 DOID:3068 DOID:3069 DOID:3070 DOID:3071 DOID:3074 DOID:3078 DOID:3459 DOID:3620 DOID:3683 DOID:3905 DOID:4015 DOID:4766 DOID:4840 DOID:4851 DOID:4903 DOID:4929 DOID:5076 DOID:5077 DOID:5672 DOID:5675 DOID:5844 DOID:5854 DOID:6000 DOID:6364 DOID:657 DOID:6726 DOID:6811 DOID:7005 DOID:7007 DOID:7008 DOID:9074 DOID:9119 DOID:9256 DOID:9408 DOID:9452 DOID:9970	ATP binding arachidonate-CoA ligase activity endoplasmic reticulum membrane endoplasmic reticulum long-chain fatty acid metabolic process long-chain fatty acid-CoA ligase activity long-chain fatty-acyl-CoA biosynthetic process membrane mitochondrial outer membrane mitochondrion nucleolus nucleoplasm oleoyl-CoA ligase activity plasma membrane positive regulation of long-chain fatty acid import across plasma membrane regulation of extrinsic apoptotic signaling pathway	GO:0001676 GO:0004467 GO:0005524 GO:0005654 GO:0005730 GO:0005739 GO:0005741 GO:0005783 GO:0005789 GO:0005886 GO:0010747 GO:0016020 GO:0035338 GO:0047676 GO:0090434 GO:2001236
M9P934	MHC class I antigen (Fragment)	HLA-C	Homo sapiens (human)	9606	1	0				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent antigen processing and presentation of endogenous peptide antigen via MHC class Ib external side of plasma membrane extracellular space immune response peptide antigen binding positive regulation of T cell mediated cytotoxicity signaling receptor binding	GO:0001916 GO:0002476 GO:0002486 GO:0005102 GO:0005615 GO:0006955 GO:0009897 GO:0042605
Q15642	Cdc42-interacting protein 4	TRIP10 CIP4 STOT STP	Homo sapiens (human)	9606	0	1	G49108TO			Golgi apparatus actin cytoskeleton organization cell communication cell cortex cell projection cytoplasm cytoskeleton cytosol endocytosis extracellular exosome identical protein binding intracellular membrane-bounded organelle lipid binding lysosome nucleoplasm perinuclear region of cytoplasm phagocytic cup signal transduction	GO:0001891 GO:0005654 GO:0005737 GO:0005764 GO:0005794 GO:0005829 GO:0005856 GO:0005938 GO:0006897 GO:0007154 GO:0007165 GO:0008289 GO:0030036 GO:0042802 GO:0042995 GO:0043231 GO:0048471 GO:0070062
Q9BUJ0	Protein ABHD14A	ABHD14A	Homo sapiens (human)	9606	2	0				cytoplasm hydrolase activity membrane	GO:0005737 GO:0016020 GO:0016787
Q54A51	Basigin	hEMMPRIN BSG	Homo sapiens (human)	9606	3	0				axon guidance axon basolateral plasma membrane cell-cell adhesion mediator activity dendrite self-avoidance endoplasmic reticulum membrane homophilic cell adhesion via plasma membrane adhesion molecules lateral plasma membrane mannose binding	GO:0005537 GO:0005789 GO:0007156 GO:0007411 GO:0016323 GO:0016328 GO:0030424 GO:0070593 GO:0098632
Q5THR3	EF-hand calcium-binding domain-containing protein 6	EFCAB6 DJBP KIAA1672	Homo sapiens (human)	9606	1	1	G49108TO			axonemal A tubule inner sheath calcium ion binding nucleoplasm	GO:0005509 GO:0005654 GO:0160111
Q1HP67	Lipoprotein, Lp(A)	LPA	Homo sapiens (human)	9606	3	0				extracellular space proteolysis serine-type endopeptidase activity signaling receptor binding	GO:0004252 GO:0005102 GO:0005615 GO:0006508
Q7Z2Q7	Leucine-rich repeat-containing protein 70	LRRC70	Homo sapiens (human)	9606	5	1	G43417UB			extracellular matrix extracellular space plasma membrane positive regulation of response to cytokine stimulus	GO:0005615 GO:0005886 GO:0031012 GO:0060760
Q9UHR5	SAP30-binding protein	SAP30BP HCNGP HTRG HTRP	Homo sapiens (human)	9606	25	3	G27391WQ G49108TO G70994MS			intermediate filament cytoskeleton modulation by host of symbiont transcription nucleoplasm nucleus regulation of DNA-templated transcription response to virus	GO:0005634 GO:0005654 GO:0006355 GO:0009615 GO:0045111 GO:0052472
Q13268	Dehydrogenase/reductase SDR family member 2, mitochondrial	DHRS2 SDR25C1	Homo sapiens (human)	9606	0	1	G49108TO			C21-steroid hormone metabolic process carbonyl reductase (NADPH) activity cellular response to oxidative stress cytoplasm electron transport chain mitochondrial matrix mitochondrion myeloid dendritic cell differentiation negative regulation of apoptotic process negative regulation of cell population proliferation nuclear envelope nucleoplasm nucleus oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor response to toxic substance	GO:0004090 GO:0005634 GO:0005635 GO:0005654 GO:0005737 GO:0005739 GO:0005759 GO:0008207 GO:0008285 GO:0009636 GO:0016616 GO:0022900 GO:0034599 GO:0043011 GO:0043066
H0Y5E4	CD44 antigen (Fragment)	CD44	Homo sapiens (human)	9606	1	0				basolateral plasma membrane cell adhesion cytokine receptor activity extracellular region hyaluronic acid binding inflammatory response macrophage migration inhibitory factor receptor complex microvillus positive regulation of ERK1 and ERK2 cascade	GO:0004896 GO:0005540 GO:0005576 GO:0005902 GO:0006954 GO:0007155 GO:0016323 GO:0035692 GO:0070374
Q9NRW1	Ras-related protein Rab-6B	RAB6B	Homo sapiens (human)	9606	0	1	G49108TO			GTP binding GTPase activity Golgi apparatus Golgi membrane Golgi organization cytoplasmic vesicle cytosol endomembrane system endoplasmic reticulum-Golgi intermediate compartment intra-Golgi vesicle-mediated transport intracellular protein transport myosin V binding neuron projection development presynapse protein localization to Golgi membrane retrograde transport, endosome to Golgi retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	GO:0000139 GO:0003924 GO:0005525 GO:0005793 GO:0005794 GO:0005829 GO:0006886 GO:0006890 GO:0006891 GO:0007030 GO:0012505 GO:0031175 GO:0031410 GO:0031489 GO:0042147 GO:0098793 GO:1903292
Q8N196	Homeobox protein SIX5	SIX5 DMAHP	Homo sapiens (human)	9606	0	1	G49108TO			DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Golgi apparatus Leydig cell proliferation RNA polymerase II cis-regulatory region sequence-specific DNA binding chromatin cytosol intracellular membrane-bounded organelle lens development in camera-type eye negative regulation of DNA-templated transcription negative regulation of skeletal muscle satellite cell proliferation nucleoplasm nucleus regulation of transcription by RNA polymerase II spermatid development transcription regulator complex	GO:0000785 GO:0000978 GO:0000981 GO:0001228 GO:0002088 GO:0005634 GO:0005654 GO:0005667 GO:0005794 GO:0005829 GO:0006357 GO:0007286 GO:0043231 GO:0045892 GO:0160024 GO:1902723
A0A1C8DSH7	MHC class I antigen (Fragment)	HLA-B	Homo sapiens (human)	9606	1	0				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent antigen processing and presentation of endogenous peptide antigen via MHC class Ib external side of plasma membrane extracellular space immune response peptide antigen binding positive regulation of T cell mediated cytotoxicity signaling receptor binding	GO:0001916 GO:0002476 GO:0002486 GO:0005102 GO:0005615 GO:0006955 GO:0009897 GO:0042605
M9PA20	MHC class I antigen (Fragment)	HLA-B	Homo sapiens (human)	9606	1	0				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent antigen processing and presentation of endogenous peptide antigen via MHC class Ib external side of plasma membrane extracellular space immune response peptide antigen binding positive regulation of T cell mediated cytotoxicity signaling receptor binding	GO:0001916 GO:0002476 GO:0002486 GO:0005102 GO:0005615 GO:0006955 GO:0009897 GO:0042605
P08603	Complement factor H	CFH HF HF1 HF2	Homo sapiens (human)	9606	10	140	G00273SJ G00875VP G00912UN G02815KT G02886BB G04657PL G04854VP G04909DG G05049YU G05933EN G06247RL G06356OH G07246CJ G07755XJ G07799LX G08146BT G08290VR G08293MJ G08918WF G10486CT G10819WX G10846ZT G11629QQ G11911BT G12341GU G14547CB G14972EH G15169WU G20425TQ G20528HD G22140GZ G22310AV G23863VK G24084IV G25418HZ G26330YA G27058EU G27126ED G27947YN G28541PG G28681TP G31118FR G31852PQ G31916IQ G31986NC G34989PA G36131WL G37399XV G37412TK G37868ZX G37881RL G40574BA G40834TG G40926MX G41071NU G41247ZX G42124LM G42358LZ G43005HM G43089EG G43223CG G43669FQ G44215PV G44753VC G45395BF G45504EY G46524LG G46691LC G46902YN G47518TP G47737VJ G48414YA G49018RC G49108TO G49642SA G49906RN G50045TK G51941GC G52527GH G54010QB G57317CE G57776ZS G57776ZU G57818FI G58087IP G58954YZ G59324HL G59536GA G59626AS G60923RB G62765YT G63980BQ G66163OV G70223PD G70232NH G70441OD G70619PT G70888PK G71146HJ G72291OX G72747WU G72797UR G75221WP G75983OB G77547TA G77669RF G78644BR G78787DI G79666IR G80075MS G80223IX G80479JV G80920RR G81263BG G82463GQ G82830MN G83460ZZ G83633GK G83646BJ G84225JN G84452RH G85144OK G85269DF G85740DB G86182NS G86880BF G87123QX G88374WZ G89098OM G89205CJ G90382BL G90659AW G92551JA G93860XO G94470IW G94917XT G95177YH G95865ZB G98611JV G99668VU			blood microparticle complement activation, alternative pathway complement activation complement component C3b binding extracellular exosome extracellular region extracellular space heparan sulfate proteoglycan binding heparin binding identical protein binding proteolysis regulation of complement activation, alternative pathway regulation of complement activation regulation of complement-dependent cytotoxicity serine-type endopeptidase complex symbiont cell surface	GO:0001851 GO:0005576 GO:0005615 GO:0006508 GO:0006956 GO:0006957 GO:0008201 GO:0030449 GO:0030451 GO:0042802 GO:0043395 GO:0070062 GO:0072562 GO:0106139 GO:1903659 GO:1905370
O43808	Peroxisomal membrane protein PMP34	SLC25A17 PMP34	Homo sapiens (human)	9606	0	1	G49108TO			ADP transmembrane transporter activity AMP transmembrane transporter activity ATP transmembrane transporter activity ATP transport FAD transmembrane transporter activity FMN transmembrane transporter activity NAD transmembrane transporter activity adenine nucleotide transmembrane transporter activity antiporter activity coenzyme A transmembrane transporter activity cytosol fatty acid alpha-oxidation fatty acid beta-oxidation fatty acid transport membrane peroxisomal membrane peroxisome protein-folding chaperone binding	GO:0000295 GO:0001561 GO:0005347 GO:0005777 GO:0005778 GO:0005829 GO:0006635 GO:0015217 GO:0015228 GO:0015230 GO:0015297 GO:0015867 GO:0015908 GO:0016020 GO:0044610 GO:0051087 GO:0051724 GO:0080122
Q8NCR0	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2	B3GALNT2	Homo sapiens (human)	9606	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	DOID:0050453 DOID:0050557 DOID:0050559 DOID:0050560 DOID:0050588 DOID:0050777 DOID:0060255 DOID:0060270 DOID:0060276 DOID:0060277 DOID:0060278 DOID:0060287 DOID:0060469 DOID:0060673 DOID:0060807 DOID:0060810 DOID:0060823 DOID:0060857 DOID:0070247 DOID:0080092 DOID:0080094 DOID:0090130 DOID:0090132 DOID:0090137 DOID:0110096 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:0110881 DOID:0111230 DOID:0111237 DOID:0111338 DOID:0111531 DOID:10003 DOID:1029 DOID:1059 DOID:10629 DOID:1088 DOID:10907 DOID:10908 DOID:11383 DOID:11541 DOID:11719 DOID:11720 DOID:11723 DOID:11724 DOID:11727 DOID:11830 DOID:11832 DOID:12139 DOID:12270 DOID:12859 DOID:14159 DOID:1432 DOID:1443 DOID:14524 DOID:1470 DOID:1573 DOID:1595 DOID:1596 DOID:1612 DOID:162 DOID:1686 DOID:1826 DOID:2234 DOID:2303 DOID:2481 DOID:2785 DOID:2848 DOID:3327 DOID:3459 DOID:3571 DOID:4090 DOID:423 DOID:4621 DOID:4626 DOID:4766 DOID:4964 DOID:5327 DOID:539 DOID:540 DOID:543 DOID:5723 DOID:684 DOID:83 DOID:8501 DOID:8927 DOID:92 DOID:9306 DOID:9837 DOID:9854 DOID:9884 DOID:9923	Golgi membrane UDP-glycosyltransferase activity acetylgalactosaminyltransferase activity endoplasmic reticulum membrane endoplasmic reticulum protein O-linked glycosylation protein glycosylation	GO:0000139 GO:0005783 GO:0005789 GO:0006486 GO:0006493 GO:0008194 GO:0008376
Q9BV94	ER degradation-enhancing alpha-mannosidase-like protein 2	EDEM2 C20orf31 C20orf49	Homo sapiens (human)	9606	4	0		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 Pick's disease Reye syndrome cerebral degeneration leiomyoma myofibroma schizophrenia uterine fibroid	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:10652 DOID:11870 DOID:127 DOID:13223 DOID:1443 DOID:14525 DOID:4386 DOID:5419	ERAD pathway calcium ion binding carbohydrate metabolic process endoplasmic reticulum lumen endoplasmic reticulum quality control compartment endoplasmic reticulum mannoprotein catabolic process mannosyl-oligosaccharide 1,2-alpha-mannosidase activity membrane positive regulation of retrograde protein transport, ER to cytosol response to unfolded protein viral protein processing	GO:0004571 GO:0005509 GO:0005783 GO:0005788 GO:0005975 GO:0006058 GO:0006986 GO:0016020 GO:0019082 GO:0036503 GO:0044322 GO:1904154

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