GlyCosmos Portal

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

Displaying entries **4476 - 4500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:10983	Alport syndrome Aliases: Hereditary Nephritis	COL4A3 COL4A4 COL4A5 HLA-DRB1 MMP3	1285 1286 1287 3123 4314	Homo sapiens (human)	Alliance of Genome Resources
DOID:9849	Meniere's disease Aliases: Meniere disease Mnire's vertigo Otogenic vertigo	AQP4 HLA-B HLA-DRB1 HSPA1A	3106 3123 3303 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	JAM2 MYORG PDGFB PDGFRB SLC20A2	5155 5159 57462 58494 6575	Homo sapiens (human)	Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	CAST IL10 MPO NOS3 SERPINA3	12 3586 4353 4846 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:2566	corneal dystrophy	ELOVL4 KERA TACSTD2 TGFBI	11081 4070 6785 7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	TBX3	6926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112050	non-syndromic X-linked intellectual disability 63 Aliases: ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68	ACSL3 ACSL4	2181 2182	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:3756	protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	COX1 COX4I2	4512 84701	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	SLC9A7	84679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	CRYAA HSPB8	1409 26353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:13994	cleidocranial dysplasia Aliases: Marie-Sainton Disease cleidocranial dysostosis	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070242	primary coenzyme Q10 deficiency 5 Aliases: COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	COQ9	57017	Homo sapiens (human)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ABCG2 BRD2 BTK CD40 EZH2 IL21R LGALS1	2146 3956 50615 6046 695 9429 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111078	tibial muscular dystrophy Aliases: Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080212	polycystic kidney disease 4	PKHD1	5314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050981	spinocerebellar ataxia type 34	ELOVL4	6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111643	autosomal recessive nonsyndromic deafness 115 Aliases: DFNB115 autosomal recessive deafness 115	SPNS2	124976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111298	familial febrile seizures 8 Aliases: FEB8 familial febrile convulsions 8	GABRG2	2566	Homo sapiens (human)	Alliance of Genome Resources
DOID:10247	pleurisy	ALOX5 ANXA1 BDKRB1 BDKRB2 CCL11 CSF3 ELANE ESR1 ICAM1 IL15 IL17A IL1RN NOS2 PLA2G6 PTAFR PTGS2 SERPINE1 TNF	1440 1991 2099 240 301 3383 3557 3600 3605 4843 5054 5724 5743 623 624 6356 7124 8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110683	congenital myasthenic syndrome 18 Aliases: CMS18	SNAP25	6616	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060298	complement component 4b deficiency	C4B	721	Homo sapiens (human)	Alliance of Genome Resources

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