GlyCosmos Portal

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

Displaying entries **3801 - 3825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	AKR1B1 CRYAA GALE GALT	1409 231 2582 2592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070356	visual impairment and progressive phthisis bulbi	MARK2 MARK3	2011 4140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111438	optic atrophy 5 Aliases: OPA5	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:417	autoimmune disease Aliases: autoimmune hypersensitivity disease hypersensitivity reaction type II disease	AHNAK B2M C9orf72 CD200 GPR132 HLA-DQA1 HLA-DQB1 HLA-DRB1 IDH1 NOD2 PARP1 SIAE	142 203228 29933 3117 3119 3123 3417 4345 54414 567 64127 79026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080792	Treacher Collins syndrome 4	POLR1B	84172	Homo sapiens (human)	Alliance of Genome Resources
DOID:1754	mitral valve stenosis Aliases: Mitral stenosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	BAP1 BRCA2 GRM1 HLA-B KDM5B KDR MBD4 MCAM SERPINE1 VEGFA	10765 2911 3106 3791 4162 5054 675 7422 8314 8930	Homo sapiens (human)	Alliance of Genome Resources
DOID:11247	disseminated intravascular coagulation Aliases: DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation	ADAMTS13 ELANE F13A1 F2 F3 FGA GP6 IL10 IL6 PLAT PROC SERPINC1 SERPINE1 TFPI THBD TNF	11093 1991 2147 2152 2162 2243 3569 3586 462 5054 51206 5327 5624 7035 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	NYX	60506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080804	cranioectodermal dysplasia 2	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:4914	esophagus adenocarcinoma Aliases: Oesophageal adenocarcinoma	ABL1 ARID1A CDC5L CTSB CYP19A1 CYP24A1 FAS FOXA1 FOXP1 GHRL GPX3 GRB7 KDR MMP12 MMP14 MMP1 MMP3 MMP9 NOS3 PTGS1 PTGS2 SMO SOD2 TNFRSF10A	1508 1588 1591 25 27086 2878 2886 3169 355 3791 4312 4314 4318 4321 4323 4846 51738 5742 5743 6608 6648 8289 8797 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110652	long QT syndrome 11 Aliases: LQT11	AKAP9	10142	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050987	hypomyelinating leukoencephalopathy	KARS1 VPS11	3735 55823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	SKIC3	9652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080486	peroxisome biogenesis disorder 12A Aliases: peroxisome biogenesis disorder 12A (Zellweger)	PEX19	5824	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050592	asphyxiating thoracic dystrophy Aliases: Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy	DYNC2H1 INTU NEK1	27152 4750 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080689	mosaic variegated aneuploidy syndrome 3	TRIP13	9319	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080759	Fanconi renotubular syndrome 3	EHHADH	1962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	ABCB7 CALR TRNT1	22 51095 811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2 Aliases: ARCS2	VIPAS39	63894	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99 Aliases: MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99	USP9X	8239	Homo sapiens (human)	Alliance of Genome Resources

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