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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4251 - 4275** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111462	cardiofaciocutaneous syndrome 3 Aliases: CFC3	MAP2K1	5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111463	cardiofaciocutaneous syndrome 4 Aliases: CFC4	MAP2K2	5605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1	56052	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060940	dystonia 33	EIF2AK2	5610	Homo sapiens (human)	Alliance of Genome Resources
DOID:10937	impulse control disorder	PRL	5617	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	cacna1aa	562059	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	PRNP	5621	Homo sapiens (human)	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	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	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:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	Pals1	56217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2450	central retinal vein occlusion	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: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: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: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:0110125	Bardet-Biedl syndrome 3 Aliases: BBS3	Arl6	56297	Mus musculus (house mouse)	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:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources

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