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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15051 - 15075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	AQP4 ATP6V0E1 MYO15A PNPLA6 PNPLA7 RPL26 SLC7A14	10908 361 375775 51168 57709 6154 8992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081061	nephrogenic diabetes insipidus type 2 Aliases: autosomal nephrogenic diabetes insipidus-2	AQP2	359	Homo sapiens (human)	Alliance of Genome Resources
DOID:1837	diabetic ketoacidosis Aliases: DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus	AQP2 SERPINA7	359 6906	Homo sapiens (human)	Alliance of Genome Resources
DOID:9409	diabetes insipidus	AQP2 AVP HAS2	3037 359 551	Homo sapiens (human)	Alliance of Genome Resources
DOID:12387	nephrogenic diabetes insipidus	AQP2 AQP3 AVPR2 CLCNKB GRN RNF40 SIRT1 SLC4A4 STIM1	1188 23411 2896 359 360 554 6786 8671 9810	Homo sapiens (human)	Alliance of Genome Resources
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	AQP1 HTR5A KCNS1	3361 358 3787	Homo sapiens (human)	Alliance of Genome Resources
DOID:636	central pontine myelinolysis Aliases: osmotic demyelination syndrome	AQP1 AQP4	358 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	AQP1 AQP4 F2 F5 IL6 ITGA2 MMP2 NRP1 PON1 SERPINE1 SERPINF1 VEGFA VEGFB	2147 2153 3569 358 361 3673 4313 5054 5176 5444 7422 7423 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050754	ataxia with oculomotor apraxia type 1	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	APTX	54840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APT1 APT2	852051 854986	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT	353	Homo sapiens (human)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	APRT HPRT1	3251 353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111111	maturity-onset diabetes of the young type 14 Aliases: MODY14	APPL1	26060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070028	APP-related cerebral amyloid angiopathy Aliases: Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD	APP	351	Homo sapiens (human)	Alliance of Genome Resources
DOID:11758	iron deficiency anemia	APP ATP7A C1QA FN1 GPX1 HFE HP IL6 IREB2 ITGA2 PON1 SLC11A2 SLC40A1 SLC4A1 TF TFRC TNF	2335 2876 30061 3077 3240 351 3569 3658 3673 4891 538 5444 6521 7018 7037 712 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:225	syndrome	APOO CDC42 NSD1 NSD2 NSD3 SCAF4 SCAF8 SVIP ZDHHC15	158866 22828 258010 54904 57466 64324 7468 79135 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:2988	antiphospholipid syndrome Aliases: APS antiphospholipid antibody syndrome	APOH CCL5 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 PLAT PROC	3117 3119 3123 350 5327 5624 6352 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:4449	macular retinal edema Aliases: macular edema macular oedema macular retinal oedema	APOH CCL2 CLU EPO FLT1 HIF1A IL6 KDR NOS3 SERPINF1 VEGFA	1191 2056 2321 3091 350 3569 3791 4846 5176 6347 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050639	primary cutaneous amyloidosis Aliases: PCA familial primary localized cutaneous amyloidosis	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110035	Alzheimer's disease 2 Aliases: AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE4 Alzheimer disease-2	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:4423	sea-blue histiocytosis Aliases: Sea-blue histiocyte syndrome	APOE	348	Homo sapiens (human)	Alliance of Genome Resources
DOID:8566	herpes simplex Aliases: Herpesvirus hominis disease	APOE IRF5 MBL2	348 3663 4153	Homo sapiens (human)	Alliance of Genome Resources

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