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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 **3551 - 3575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	CHD7	55636	Homo sapiens (human)	Alliance of Genome Resources
DOID:4440	seminoma Aliases: Seminoma, Pure	CHEK2 FAS FASLG HRAS INHA INSR JUP KCNE1 KCNQ1 KIT KRAS PCNA PDGFRA PDPN PLAAT3 POU5F1 PRMT5 RB1 SMAD4 TYMP VEGFA XRCC1	10419 10630 11145 11200 1890 3265 355 356 3623 3643 3728 3753 3784 3815 3845 4089 5111 5156 5460 5925 7422 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111504	Li-Fraumeni syndrome 2 Aliases: LFS2	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 CHRM3 IKZF3 IL6 RB1 TERT TNF WIF1	1116 11197 1131 22806 3569 5925 7015 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	CHI3L1 COL2A1 EXT1 FGFR3 MTOR	1116 1280 2131 2261 2475	Homo sapiens (human)	Alliance of Genome Resources
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	CHIA	27159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050912	colon adenoma	CHKA RAC1 RBP4 TET2	1119 54790 5879 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	CHL1 L1CAM NFASC NRCAM TRPM1 TRPM3	10752 23114 3897 4308 4897 80036	Homo sapiens (human)	Alliance of Genome Resources
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	CHM CHML	1121 1122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Aliases: ALS17 (FORMERLY) AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia	CHMP2B	25978	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:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	CHRD CRKL EDNRA ESS2 PRICKLE1 UFD1	1399 144165 1909 7353 8220 8646	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome Aliases: Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy	CHRM3 LMOD1 MYH11 MYL9 MYLK	10398 1131 25802 4629 4638	Homo sapiens (human)	Alliance of Genome Resources
DOID:365	bladder disease Aliases: Urinary Bladder Disease	CHRM3 RGS3 SLC18A3	1131 5998 6572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	CHRNA1	1134	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4 Aliases: ENFL4 nocturnal frontal lobe epilepsy 4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1 Aliases: ENFL1 nocturnal frontal lobe epilepsy 1	CHRNA4	1137	Homo sapiens (human)	Alliance of Genome Resources
DOID:4556	lung large cell carcinoma Aliases: large cell carcinoma of lung large cell lung carcinoma	CHRNA5 DLL4 NOTCH1 PTPN13	1138 4851 54567 5783	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110681	congenital myasthenic syndrome 2A Aliases: CMS2A congenital myasthenic syndrome 2A slow-channel	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources

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