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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 **10051 - 10075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060956	dystonia 37, early-onset with striatal lesions	NUP54	53371	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080939	hereditary angioedema type I	SERPING1	710	Homo sapiens (human)	Alliance of Genome Resources
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	TRAF7	84231	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112185	thyroid dyshormonogenesis 1 Aliases: TDH1 genetic defect in thyroid hormonogenesis 1 iodide accumulation, transport, or trapping defect	SLC5A5	6528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3 Aliases: AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3	WDR72	256764	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	TRDN	10345	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	SLC46A1	113235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:8618	oral cavity cancer Aliases: malignant neoplasm of floor of mouth	CHRNB4 CYP1A1 CYP2E1 SOD3	1143 1543 1571 6649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060393	chromosome 15q11.2 deletion syndrome Aliases: 15q11.2 microdeletion syndrome	CYFIP1 CYFIP2 UBE3A	23191 26999 7337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080339	familial erythrocytosis 4 Aliases: ECYT4	EPAS1	2034	Homo sapiens (human)	Alliance of Genome Resources
DOID:7147	ankylosing spondylitis Aliases: Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease	ACE ADIPOQ ANO6 ASPN CYP1A1 FCGR3A HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 IGFBP3 IL17A IL23R IL6 IRAK1 PGF PTGER4 TAP1 THBD TLR4 TLR5 TNFRSF1B	149233 1543 1636 196527 2214 3106 3117 3119 3123 3486 3569 3605 3654 5228 54829 5734 6890 7056 7099 7100 7133 9370	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:0070072	autosomal dominant intellectual developmental disorder 42 Aliases: MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42	GNB1	2782	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9	79796	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070233	Loeys-Dietz syndrome 4 Aliases: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4	TGFB2	7042	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:0080559	congenital disorder of glycosylation Ig Aliases: ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g	ALG12	79087	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070416	Luo-Schoch-Yamamoto syndrome Aliases: LUSYAM	RING1 RNF2	6015 6045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110543	autosomal dominant nonsyndromic deafness 11 Aliases: DFNA11 autosomal dominant deafness 11	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:9562	primary ciliary dyskinesia Aliases: ciliary motility disorder immotile ciliary syndrome	BRWD1 CFAP74 DNAH5 DNAH7 ODAD3 PCSK5 SLIT2 SPEF2 TTLL1	115948 1767 25809 5125 54014 56171 79925 85452 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081118	benign familial infantile seizures 5 Aliases: Benign Familial Infantile Seizures, 5	SCN8A	6334	Homo sapiens (human)	Alliance of Genome Resources
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)	Alliance of Genome Resources

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