GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **4115** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	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:0050578	occult macular dystrophy	RP1L1	94137	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:0050580	hereditary lymphedema	ANGPT2 CALCRL CELSR1 PIEZO1 THSD1 TIE1	10203 285 55901 7075 9620 9780	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050581	brachydactyly	HOXD13 SLC26A2	1836 3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050585	congenital generalized lipodystrophy	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050587	trichotillomania	SLITRK1	114798	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	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	ADAM17 AGT ALPI ANO6 B2M EGFR ICAM1 IGFBP3 IL10 IL1RN NPSR1 SLC11A1 TGFB1	183 1956 196527 248 3383 3486 3557 3586 387129 567 6556 6868 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050590	severe congenital neutropenia	CSF3R ELANE	1441 1991	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: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:0050598	extrapulmonary tuberculosis	CD209 CLEC4M EREG	10332 2069 30835	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:0050602	triple-A syndrome Aliases: AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome	AAAS	8086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050604	acrocapitofemoral dysplasia	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050605	acrodermatitis enteropathica	SLC39A4	55630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050606	acrokeratosis verruciformis Aliases: Acrokeratosis verruciformis of Hopf Hopf disease	ATP2A2	488	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 IL4 MTAP MUC1	213 3565 4507 4582	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:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	ADAR SAMHD1	103 25939	Homo sapiens (human)	Alliance of Genome Resources
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:0050632	oculocutaneous albinism	DCT TYR TYRP1	1638 7299 7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050633	ocular albinism 1 Aliases: Albinism ocular 1 ocular albinism	GPR143 TYR	4935 7299	Homo sapiens (human)	Alliance of Genome Resources

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