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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 **4526 - 4550** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	ADAR SAMHD1	103 25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2 PER3 TIMELESS	8863 8864 8914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050625	biliary tract benign neoplasm Aliases: extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct	ALB CTPS1 FASLG HGF IL4 IL6 MDM2 MTAP MUC1 MUC4 MUC5AC	1503 213 3082 356 3565 3569 4193 4507 4582 4585 4586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050610	oral cavity carcinoma in situ	NUF2	83540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050605	acrodermatitis enteropathica	SLC39A4	55630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050604	acrocapitofemoral dysplasia	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	AAAS	8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050600	ABCD syndrome Aliases: ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050598	extrapulmonary tuberculosis	CD209 CLEC4M EREG	10332 2069 30835	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050593	primary congenital glaucoma	CDK7	1022	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:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	BMP2 BMP4 EDA GREM2 LRP6 TSPEAR WNT10A WNT10B	1896 4040 54084 64388 650 652 7480 80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050590	severe congenital neutropenia	CSF3R ELANE HAX1	10456 1441 1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	ADAM17 ADIPOQ AGER AGT ALPI ANKZF1 ANO6 B2M CD40LG EGFR EPB41 EPB41L1 EPB41L2 EPB41L3 FGF23 HSPA5 ICAM1 IGF2 IGFBP3 IL10 IL16 IL1RN IL21R IL2 IL2RA KLKB1 LTF MST1 MUC2 NOS2 NPSR1 PDGFB PDZD2 PIK3C3 RAB11A RAB11B RUNX3 SLC11A1 SLC6A14 ST6GALNAC1 STAT3 TGFB1 THEMIS TNF VEGFA	11254 177 183 1956 196527 2035 2036 2037 23037 23136 248 3309 3383 3481 3486 3557 3558 3559 3586 3603 3818 387129 387357 4057 4485 4583 4843 50615 5155 5289 55139 55808 567 6556 6774 6868 7040 7124 7422 8074 864 8766 9230 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4GAT1 DAG1 FKRP FKTN INPP5K LARGE1 POMGNT1 POMT1	10585 11041 1605 2218 51763 55624 79147 9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050587	trichotillomania	SLITRK1	114798	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	BSCL2 PCYT1A	26580 5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050581	brachydactyly	HOXD13 SLC26A2	1836 3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050580	hereditary lymphedema	ANGPT2 CALCRL CELSR1 FLT4 PIEZO1 THSD1 TIE1 VEGFC	10203 2324 285 55901 7075 7424 9620 9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050578	occult macular dystrophy	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050576	Senior-Loken syndrome Aliases: Loken Senior syndrome renal-retinal syndrome	TRAF3IP1	26146	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	IDH1	3417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources

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