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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 **9601 - 9625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060863	patterned macular dystrophy Aliases: patterned dystrophy of retinal pigment epithelium	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060866	patterned macular dystrophy 1 Aliases: MDPT1 butterfly-shaped pigmentary maculary dystrophy 1	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	Impg1 Impg2 Prph2	19133 224224 63859	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	Mfrp Prph2 Rho	19133 212541 259172	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111905	autosomal recessive thrombophilia due to protein S deficiency Aliases: THPH6 autosomal recessive thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency	Pros1	19128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency Aliases: THPH5	Pros1	19128	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	Pros1 Tfpi	19128 21788	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	Prom1	19126	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	Prom1	19126	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	Prom1	19126	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080291	developmental and epileptic encephalopathy 59 Aliases: DEE59 early infantile epileptic encephalopathy 59	gbb-2	191240	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9667	placental abruption Aliases: abruptio placenta abruptio placentae	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency Aliases: THPH4 autosomal recessive PROC deficiency autosomal recessive protein C deficiency	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency Aliases: THPH3 autosomal dominant PROC deficiency autosomal dominant protein C deficiency	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3756	protein C deficiency	Proc	19123	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2450	central retinal vein occlusion	Proc Serpinf1	19123 20317	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	Prnp	19122	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5434	scrapie	Prnp	19122	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	Prnp	19122	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090103	Huntington's disease-like 1 Aliases: HDL1 HLN1 Huntington disease-like 1 Huntington-like neurodegenerative disorder 1 autosomal dominant Huntington-like neurodegenerative disorder early-onset prion disease with prominent psychiatric features	Prnp	19122	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	Prlr Ret	19116 19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070287	primary autosomal recessive microcephaly 11 Aliases: MCPH11	PHC1	1911	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110953	Waardenburg syndrome type 4A Aliases: WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A	EDNRB	1910	Homo sapiens (human)	Alliance of Genome Resources

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