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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 **13151 - 13175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
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	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:648	kuru Aliases: kuru encephalopathy	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:5434	scrapie	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111301	generalized epilepsy with febrile seizures plus 9 Aliases: GEFS+9 GEFSP9 generalised epilepsy with febrile seizures plus 9 generalised epilepsy with febrile seizures plus type 9 generalized epilepsy with febrile seizures plus type 9	Stx1b	56216	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080975	intracranial berry aneurysm 12	Thsd1	56229	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	5624	Homo sapiens (human)	Alliance of Genome Resources
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:12798	mucopolysaccharidosis	arsk hyal1	562412 664772	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070538	syndromic X-linked intellectual developmental disorder bain type Aliases: HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type	Hnrnph2	56258	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2583	agammaglobulinemia Aliases: IGHM hypogammaglobulinemia mu heavy chain deficiency	BTK LRRC8A	56262 695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080588	agammaglobulinemia 5	LRRC8A	56262	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:0110123	Bardet-Biedl syndrome 1 Aliases: BBS1	Arl6	56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110370	retinitis pigmentosa 55 Aliases: RP55	Arl6	56297	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	Arl6	56297	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	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:0080653	urolithiasis	Ggcx	56316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1 Aliases: VKCFD1	Ggcx	56316	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	gdf2	563287	Danio rerio (zebrafish)	Alliance of Genome Resources

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