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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 **3051 - 3075** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0081270	Smith-McCort dysplasia 1	DYM	54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	CNNM2	54805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111464	combined oxidative phosphorylation deficiency 35 Aliases: COXPD35	TRIT1	54802	Homo sapiens (human)	Alliance of Genome Resources
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ADAMTS1 BNC2	54796 9510	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111076	progressive familial heart block type IB Aliases: PFHB1B	TRPM4	54795	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110349	osteogenesis imperfecta type 9 Aliases: OI9 osteogenesis imperfecta type IX	PPIB	5479	Homo sapiens (human)	Alliance of Genome Resources
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	PPIA	5478	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110617	primary ciliary dyskinesia 5 Aliases: CILD5 primary ciliary dyskinesia 5 without situs inversus	HYDIN	54768	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080540	galactosialidosis	CTSA	5476	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	FAM20A	54757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia	IL17RD	54756	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070204	familial partial lipodystrophy type 3 Aliases: FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations	PPARG	5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070430	combined oxidative phosphorylation deficiency 57 Aliases: COXPD57	CRLS1	54675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070405	hypomyelinating leukodystrophy 16 Aliases: HLD16	TMEM106B	54664	Homo sapiens (human)	Alliance of Genome Resources
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050630	Aland Island eye disease Aliases: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome	Cacna1f	54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	Cacna1f	54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	Cacna1f	54652	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9427	hypertensive encephalopathy	BDNF PPARA	5465 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	Wdr45	54636	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060206	amyotrophic lateral sclerosis type 15 Aliases: ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	Ubqln2 Ubqln4	54609 94232	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070394	developmental and epileptic encephalopathy 108 Aliases: DEE108 early infantile epileptic encephalopathy 108	Mast3	546071	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome Aliases: ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources

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