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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 **5601 - 5625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0081177	autosomal recessive intellectual developmental disorder 1	Prss12	85266	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	Prss12	19142	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	Prrx1 Trappc10	18933 216131	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081115	benign familial infantile seizures 2 Aliases: Benign Familial Infantile Seizures, 2	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	Prrt2	69017	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	Prpsap1	67763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	Prps1	19139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	Prps1	19139	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050647	Arts syndrome Aliases: ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type	Prps1 Prpsap1	19139 67763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5 Aliases: CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness	Prps1 Prpsap1	19139 67763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060866	patterned macular dystrophy 1 Aliases: MDPT1 butterfly-shaped pigmentary maculary dystrophy 1	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060863	patterned macular dystrophy Aliases: patterned dystrophy of retinal pigment epithelium	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	Prph2	25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	Prph2 Rho	24717 25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	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:0060863	patterned macular dystrophy Aliases: patterned dystrophy of retinal pigment epithelium	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	Prph2	19133	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	Prpf8	192159	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: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

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