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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 **11526 - 11550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	HBA1 HBA2	3039 3040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080410	familial adenomatous polyposis 2 Aliases: MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli	MUTYH	4595	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090001	Fraser syndrome Aliases: cryptophthalmos with other malformations	FRAS1 FREM1 FREM2 GRIP1	158326 23426 341640 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112159	autosomal dominant nonsyndromic deafness 78 Aliases: DFNA78	SLC12A2	6558	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081109	keratosis palmoplantaris striata 2	DSP	1832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081148	common variable immunodeficiency 5	MS4A1	931	Homo sapiens (human)	Alliance of Genome Resources
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	IL6	3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112236	lissencephaly 6 Aliases: LIS6	KATNB1	10300	Homo sapiens (human)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	PRPH2	5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:11563	retinal vasculitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N Aliases: LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	MEGF8	1954	Homo sapiens (human)	Alliance of Genome Resources
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	GPC3 SMARCB1	2719 6598	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:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081082	acute myelomonocytic leukemia	ARHGAP26 CBFB FLT3 GMPS	23092 2322 865 8833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ARX ATP6AP2 CASK DDX3X HUWE1 NKAP PHF2 PHF8 ZFX	10075 10159 1654 170302 23133 5253 7543 79576 8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110192	Charcot-Marie-Tooth disease type 4H Aliases: CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111649	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Aliases: EEM syndrome EEMS ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome	CDH3	1001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081217	autosomal recessive intellectual developmental disorder 56	ZC3H14	79882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	NEDD4 NEDD4L SCNN1A SCNN1B SCNN1G WWP2	11060 23327 4734 6337 6338 6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080665	warfarin resistance	CYP2C9	1559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111059	Bernard-Soulier syndrome type A2 Aliases: BSSA2	GP1BA	2811	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111967	immunodeficiency 54 Aliases: IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	MCM4	4173	Homo sapiens (human)	Alliance of Genome Resources

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