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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 **9526 - 9550** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111632	familial erythrocytosis 6 Aliases: ECYT6 beta-globin type erythrocytosis beta-globin type polycythemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080770	autosomal dominant beta thalassemia Aliases: inclusion body beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080686	tubular aggregate myopathy 2	Orai1	304496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111976	immunodeficiency 9 Aliases: CID due to ORAI1 deficiency IMD9 combined immunodeficiency due to ORAI1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 1	Orai1	304496	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	wif1	30476	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	Kcnt2	304827	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110009	achromatopsia 7 Aliases: ACHM7	Atf6	304962	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	Fcgr3a	304966	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111941	immunodeficiency 20 Aliases: CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	Fcgr3a	304966	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2316	brain ischemia Aliases: Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia	gfra1a gfra1b kdr ret tek	30512 30747 554230 79376 79377	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080855	Parkinsonism	comta comtb gfra1a gfra1b ngfb ret slc17a8	30512 561372 563467 565370 58133 79376 79377	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050771	pheochromocytoma Aliases: phaeochromocytoma	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	HCCS	3052	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111901	heparin cofactor II deficiency Aliases: HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency	SERPIND1	3053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type Aliases: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX	HCFC1	3054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	Aebp1	305494	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11661	blue color blindness Aliases: Tritan defect Tritanopia	opn1sw1	30582	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:856	biotinidase deficiency Aliases: BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase	Btd	306262	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	Pomk	306549	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	Pomk	306549	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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