GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **451 - 475** of **5716** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060108	brain glioma Aliases: lower grade glioma	PTPRB XRCC1	5787 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060108	brain glioma Aliases: lower grade glioma	Fas Faslg	246097 25385	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060131	alexithymia	SLC6A4	6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	AR	367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	Gug	46156	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060162	dentatorubral-pallidoluysian atrophy Aliases: DRPLA Haw River Syndrome Naito-Oyanagi disease	ATN1	1822	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	Gabrg2 Scn1a Scn1b	14406 20265 20266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	SCN1A SLC32A1	140679 6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	CACNA1C	775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060173	Timothy syndrome	Cacna1c	12288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060174	GABA aminotransferase deficiency Aliases: Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency	ABAT	18	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060175	succinic semialdehyde dehydrogenase deficiency Aliases: 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria	ALDH5A1	7915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	Atpalpha	48971	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	PQBP1	10084	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060180	colitis	Cckbr Crhr2 Cxcr2 Ppargc1a Sell Tacr2	25007 25706 29259 29385 64680 83516	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060180	colitis	APOA4 HLA-B	3106 337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	SERPINE1	5054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060186	chemical colitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060189	ileitis Aliases: Crohn's ileitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060189	ileitis Aliases: Crohn's ileitis	Tlr4	29260	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	Sncg Sod1 Sod2 Vegfa	20618 20655 20656 22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060193	amyotrophic lateral sclerosis type 1 Aliases: ALS1 amyotrophic lateral sclerosis 1	DCTN1 NEFH PRPH SOD1	1639 4744 5630 6647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	Setx	269254	Mus musculus (house mouse)	Alliance of Genome Resources

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