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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 **1451 - 1475** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1924	hypogonadism	CYP11A1 EDN1 HSD3B1 IL6 KISS1R LEP PRKG1	1583 1906 3283 3569 3952 5592 84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050946	Charlevoix-Saguenay spastic ataxia	ANKFY1 SACS	26278 51479	Homo sapiens (human)	Alliance of Genome Resources
DOID:8927	learning disability Aliases: Academic skill disorder learning disorder	IL1RN	3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:790	ocular hypotension Aliases: Hypotony of eye	ACE	1636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLG1	8802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110265	cataract 31 multiple types Aliases: CTRCT31	CHMP4B	128866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	ABCG5 ABCG8	64240 64241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050709	early infantile epileptic encephalopathy Aliases: Early Infantile Epileptic Encephalopathy with Burst-Suppression	ARX IDH3A IDH3B IDH3G SCN8A STXBP1	170302 3419 3420 3421 6334 6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060022	CD40 ligand deficiency Aliases: HIGMX-1 X-linked hyper-IgM syndrome	CD40LG	959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	RTN4IP1	84816	Homo sapiens (human)	Alliance of Genome Resources
DOID:8616	Peyronie's disease Aliases: Induratio penis plastica Peyronie disease Peyronie's Fibromatosis	HDAC2	3066	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080267	autosomal dominant nonsyndromic deafness 71	DMXL2	23312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070267	congenital disorder of glycosylation type IIo Aliases: CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIdo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o	CCDC115	84317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH3A	3419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111918	spermatogenic failure 40 Aliases: SPGF40	CFAP65	255101	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	APC BRCA2 CTNNB1 GPR161 IFNG KDM4C PDGFRA PTCH1 PTCH2 SMO TP53 TSC2	1499 23081 23432 324 3458 5156 5727 6608 675 7157 7249 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	SUCO	51430	Homo sapiens (human)	Alliance of Genome Resources
DOID:75	lymphatic system disease Aliases: Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease	EPHB4 LGMN	2050 5641	Homo sapiens (human)	Alliance of Genome Resources
DOID:6595	gastric tubular adenocarcinoma Aliases: tubular adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111089	Fanconi anemia complementation group D1 Aliases: FAD1 FANCD1	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:12377	spinal muscular atrophy	AR ATP7A ATP7B DPP6 HEXB KIF5B VAPB	1804 3074 367 3799 538 540 9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080728	Ehlers-Danlos syndrome arthrochalasia type 2	COL1A2	1278	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources

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