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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 **7001 - 7025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080107	microcephaly and chorioretinopathy 3	TUBGCP4	27229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080502	GM1 gangliosidosis type 1	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080501	GM1 gangliosidosis type 2 Aliases: juvenile GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3322	GM1 gangliosidosis Aliases: Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources
DOID:2129	atypical teratoid rhabdoid tumor Aliases: Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour	GPC3 SMARCB1	2719 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	CHIA	27159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111611	autosomal recessive spinocerebellar ataxia 4 Aliases: SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	Vps13a Vps13c	271564 320528	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080289	orofaciodigital syndrome XVII	INTU	27152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050592	asphyxiating thoracic dystrophy Aliases: Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy	DYNC2H1 INTU NEK1	27152 4750 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:1595	melancholic depression Aliases: endogenous depression major depressive disorder with melancholic features melancholia	MORC1	27136	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111113	nephronophthisis 2 Aliases: NPH2 NPHP2 infantile nephronophthisis 2	INVS	27130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080506	Cornelia de Lange syndrome 2	SMC1A SMC1B	27127 8243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081230	autosomal recessive intellectual developmental disorder 69	ZBTB11	27107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110814	hereditary spastic paraplegia 63 Aliases: SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060278	pontocerebellar hypoplasia type 9	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	Tmem132e	270893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1255	trichostrongyloidiasis	FOXP1	27086	Homo sapiens (human)	Alliance of Genome Resources

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