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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3276 - 3300** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111647	Schopf-Schulz-Passarge syndrome Aliases: SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome	WNT10A	80326	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111648	ectopia lentis with ectopia of pupil Aliases: ectopia lentis et pupillae	ADAMTSL4	54507	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:0111650	ectodermal dysplasia 13 Aliases: ECTD13 ectodermal dysplasia 13, hair/tooth type	KREMEN1	83999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111651	ectodermal dysplasia 15 Aliases: ECTD15 ectodermal dysplasia 15, hypohidrotic/hair type	CST6	1474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111662	ectodermal dysplasia 14 Aliases: ECTN14 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	TSPEAR	54084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111663	ectodermal dysplasia 10A Aliases: ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	EDA	1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Aliases: EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly	HNM1	852803	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111667	enterokinase deficiency Aliases: congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase	TMPRSS15	5651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111668	Kohlschutter-Tonz syndrome Aliases: KTZS Kohlschutter's syndrome amelocerebrohypohidrotic syndrome epilepsy and yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy-dementia-amelogenesis imperfecta syndrome	ROGDI	79641	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111669	hyaline fibromatosis syndrome Aliases: HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis	ANTXR2	118429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111670	primary hyperoxaluria type 1 Aliases: HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency	AGXT	189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	GRHPR	9380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111671	primary hyperoxaluria type 2 Aliases: D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II	Grhpr	76238	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	25839	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111675	neurooculocardiogenitourinary syndrome Aliases: NOCGUS	WDR37	22884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111676	high molecular weight kininogen deficiency Aliases: Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency	KNG1	3827	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111678	hereditary folate malabsorption Aliases: congenital defect of folate absorption congenital folate malabsorption	SLC46A1	113235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111680	essential fructosuria Aliases: fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency	KHK	3795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111681	congenital nonspherocytic hemolytic anemia 7 Aliases: gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	GCLC	2729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111682	diffuse cystic renal dysplasia Aliases: CYSRD renal dysplasia diffuse cystic susceptibility to cystic renal dysplasia	BICC1	80114	Homo sapiens (human)	Alliance of Genome Resources

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