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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3626 - 3650** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:6364	migraine Aliases: migraine disorder migraine variant migraine with or without aura	ACACA ACE ACHE ACSF3 ACSL5 ADH1B ADH4 AKR1A1 AMACR CD14 COMT CYP19A1 GAD1 GCDH GOLPH3 GPI HPSE2 HPSE ICAM1 ISYNA1 LGALS3 MGLL MMP17 MYORG OLAH PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PRNP PTEN PTGS2 SELE SELL STS TNF VCAM1	10327 10855 11343 125 127 1312 1588 1636 197322 23600 2571 2639 2821 31 3383 3958 412 43 4326 51196 51477 51703 5230 5290 5291 5293 5294 55301 5621 5728 5743 57462 60495 6401 6402 64083 7124 7412 929	Homo sapiens (human)
DOID:13413	hepatic encephalopathy Aliases: Portal-systemic encephalopathy	G6pd2 G6pdx	14380 14381	Mus musculus (house mouse)
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	853371	Saccharomyces cerevisiae S288C
DOID:0110860	polycystic kidney disease 3 Aliases: Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III	ROT2	852530	Saccharomyces cerevisiae S288C
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	FUT1 IL18R1 PGK1	2523 5230 8809	Homo sapiens (human)
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6	31926 34978 34979 34981 36868 37104	Drosophila melanogaster (fruit fly)
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	CAT CNTN4 ELOVL4 ELOVL5 ENPP2 GLO1 HPGDS HSD17B6 MPI OGA PLA2G1B PLA2G2A PLA2G6 PLB1 PNPLA6 PRNP SDHC SPTLC3 SUMF1 TREH	10724 10908 11181 151056 152330 27306 2739 285362 4351 5168 5319 5320 55304 5621 60481 6391 6785 8398 847 8630	Homo sapiens (human)
DOID:0060041	autism spectrum disorder	Comt Ext1 Htr2a Ndst1 Ndst2 Ndst3 Ndst4 Wdfy3	12846 14042 15531 15558 17423 64580 72145 83398	Mus musculus (house mouse)
DOID:0110658	congenital myasthenic syndrome 15 Aliases: CMS15 congenital myasthenic syndrome 15 without tubular aggregates	ALG14	199857	Homo sapiens (human)
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	large1	446213	Danio rerio (zebrafish)
DOID:0110409	retinitis pigmentosa 46 Aliases: RP46	IDH3B	3420	Homo sapiens (human)
DOID:2352	hemochromatosis Aliases: Haemochromatosis diabetes bronze iron storage disorder	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0110591	autosomal dominant nonsyndromic deafness 7 Aliases: DFNA7 autosomal dominant deafness 7	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	Cht10 Cht2 Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 Parp1 Tl se	31926 3355109 3355116 34978 34979 34981 36868 37104 38223 38973 43222	Drosophila melanogaster (fruit fly)
DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 Aliases: AIH3 amelogenesis imperfecta type IE X-linked 2 amelogenesis imperfecta 3 hypoplastic type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:3847	papillary craniopharyngioma Aliases: Papillary Rathke's Pouch tumor craniopharyngioma, papillary	ATP6AP2 CD44 CEL CYP2E1 GAD1 GPX1 HSD11B1 IDH1 LGALS1 NDUFAB1	10159 1056 1571 2571 2876 3290 3417 3956 4706 960	Homo sapiens (human)
DOID:0110493	autosomal recessive nonsyndromic deafness 35 Aliases: DFNB35 autosomal recessive deafness 35	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	GMPPB	29925	Homo sapiens (human)
DOID:0080324	tuberous sclerosis 1	ABO AMACR APRT CANX CBR1 FCN2 HEXD ICAM1 MLYCD OGA OGG1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLB1 PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SDC2 SDHB SORD TKT	10724 151056 2220 23417 23600 28 284004 3383 353 4968 5289 5290 5291 5293 5294 5310 5333 5563 5728 5742 5743 6383 6390 6652 7086 821 873	Homo sapiens (human)
DOID:9675	pulmonary emphysema	fut-8	178985	Caenorhabditis elegans
DOID:0111052	Scott syndrome Aliases: BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency	ANXA5	308	Homo sapiens (human)
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	AGRN ALDH2 ANXA5 CAT CHAT COMT CYP3A5 INPP5E OLR1 PCYT1A PLCB4 PRPS1 PSAP SLC35A2	1103 1312 1577 217 308 375790 4973 5130 5332 5631 5660 56623 7355 847	Homo sapiens (human)
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	CD44 IDH1 PIK3CA PLAUR PTGS2 PYGM	3417 5290 5329 5743 5837 960	Homo sapiens (human)
DOID:10952	nephritis	parp-1	266823	Caenorhabditis elegans

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