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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4476 - 4500** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0090005	Schwartz-Jampel syndrome 1 Aliases: Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy	Hspg2	15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	Hspg2	15530	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110766	hereditary spastic paraplegia 13 Aliases: SPG13 autosomal dominant spastic paraplegia 13	Hspd1	15510	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110429	dilated cardiomyopathy 1H Aliases: dilated cardiomyopathy with conduction defect	ADRB3 CYP11B2 HLA-DQA1 HLA-DQB1	155 1585 3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090031	D-bifunctional protein deficiency	Hsd17b4	15488	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090140	cortisone reductase deficiency 2 Aliases: CORTRD2	Hsd11b1	15483	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	ABCA13 CD44 HLA-DQA1 KMT2D PLCE1 RNF43 TP53 UBR5 XPO1	154664 3117 51196 51366 54894 7157 7514 8085 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070311	oligoasthenoteratozoospermia Aliases: OAT oligoasthenoteratospermia	Agfg1 Spata20	15463 217116	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency HPRT1 deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Hprt1	15452	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11212	hydrophthalmos	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080611	anterior segment dysgenesis 6	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060673	Peters anomaly	CYP1B1	1545	Homo sapiens (human)	Alliance of Genome Resources
DOID:4607	biliary tract cancer Aliases: malignant tumour of biliary tract	CYP1A1	1543	Homo sapiens (human)	Alliance of Genome Resources
DOID:6132	bronchitis Aliases: CI - Chest infection Chest infection acute Bronchitis chest cold chronic bronchitis recurrent wheezy bronchitis	CYP1A1	1543	Homo sapiens (human)	Alliance of Genome Resources
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	CCR2 CYP1A1 IL13 IL17A IRAK1 LTA PECAM1 STAT3 STAT4 TNF	1543 3596 3605 3654 4049 5175 6774 6775 7124 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:6196	reactive arthritis Aliases: Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reiter disease Reiter's disease postdysenteric arthropathy	CYP1A1 HLA-B SOD2 TAP1	1543 3106 6648 6890	Homo sapiens (human)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	CYP1A1 FLNB HOXD13 PITX1	1543 2317 3239 5307	Homo sapiens (human)	Alliance of Genome Resources
DOID:11934	head and neck cancer Aliases: head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck	CYP1A1 KDM4C	1543 23081	Homo sapiens (human)	Alliance of Genome Resources
DOID:552	pneumonia Aliases: acute pneumonia	ABO ACE C5 CYP1A1 CYP2E1 FCGR3A IL1RN MIF SERPINE1 SFTPB SFTPD SOD3 TNFRSF1B	1543 1571 1636 2214 28 3557 4282 5054 6439 6441 6649 7133 727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	ABL1 BRINP2 CCL2 CCR2 CLPTM1L CYP1A1 CYP24A1 CYP2E1 DAXX DDR2 EZH2 FAT1 FGFR3 FGFR4 GSK3B IL10 IL2 TERT TP53 WNT11	1543 1571 1591 1616 2146 2195 2261 2264 25 2932 3558 3586 4921 57795 6347 7015 7157 729230 7481 81037	Homo sapiens (human)	Alliance of Genome Resources
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 HFE	1543 1544 3077	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112338	spermatogenic failure 57 Aliases: SPGF57	PNLDC1	154197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0014667	disease of metabolism Aliases: metabolic disease	ADRB2 BAAT NBN SREBF1 TJP2	154 4683 570 6720 9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:2942	bronchiolitis	ADRB2 IL17A MUC5B	154 3605 727897	Homo sapiens (human)	Alliance of Genome Resources

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