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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 **13676 - 13700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	P3H1	64175	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111807	syndromic microphthalmia 9 Aliases: Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome	STRA6	64220	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080019	metaphyseal dysplasia Aliases: Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome	SFRP4	6424	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090019	sitosterolemia Aliases: phytosterolemia	ABCG5 ABCG8	64240 64241	Homo sapiens (human)	Alliance of Genome Resources
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	csf1ra fgf8b	64274 65089	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	csf1ra rnaset2	64274 791890	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:5223	infertility	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:614	lymphopenia Aliases: Lymphocytopenia	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:13139	crescentic glomerulonephritis	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080006	bone development disease	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070343	CSF1R-related brain malformation and osteopetrosis Aliases: osteoporosis and infantile neuroaxonal dystrophy	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	Acads	64304	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14748	Sotos syndrome Aliases: cerebral gigantism	NSD1	64324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	LIPN	643418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070413	autosomal recessive spinocerebellar ataxia 32 Aliases: SCAR32	Prdx3	64371	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	SIL1	64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	SFTPC	6440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation Aliases: SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type artemis deficiency	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources

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