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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 **9951 - 9975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:3756	protein C deficiency	PROC	5624	Homo sapiens (human)	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	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:9667	placental abruption Aliases: abruptio placenta abruptio placentae	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	PROKR2	128674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	PROS1 TFPI	5627 7035	Homo sapiens (human)	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	5627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency Aliases: THPH5	PROS1	5627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110356	retinitis pigmentosa 18 Aliases: RP18	PRPF3	9129	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110392	retinitis pigmentosa 70 Aliases: RP70	PRPF4	9128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110411	retinitis pigmentosa 60 Aliases: RP60	PRPF6	24148	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PRPF8	10594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110383	retinitis pigmentosa 7 Aliases: RP7	PRPH2 ROM1	5961 6094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060866	patterned macular dystrophy 1 Aliases: MDPT1 butterfly-shaped pigmentary maculary dystrophy 1	PRPH2	5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:9822	partial central choroid dystrophy Aliases: Choroidal dystrophy, central areolar	PRPH2	5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060863	patterned macular dystrophy Aliases: patterned dystrophy of retinal pigment epithelium	PRPH2	5961	Homo sapiens (human)	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	5631 5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	PRPSAP1	5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081177	autosomal recessive intellectual developmental disorder 1	PRSS12	8492	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	PRSS56	646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:9455	lipid storage disease Aliases: Lipoid storage diseas inborn lipid storage disorder lipoidosis	PSAP PSAPL1 SLC7A3 SREBF1 SREBF2	5660 6720 6721 768239 84889	Homo sapiens (human)	Alliance of Genome Resources

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