GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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 **11801 - 11825** of **15957** in total

« First

‹ Prev

…

469

470

471

472

473

474

475

476

477

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0070405	hypomyelinating leukodystrophy 16 Aliases: HLD16	TMEM106B	54664	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080254	orofaciodigital syndrome XVI	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111437	optic atrophy 7 Aliases: OPA7 optic atrophy 7 with or without auditory neuropathy	TMEM126A	84233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111634	autosomal recessive nonsyndromic deafness 99 Aliases: DFNB99 autosomal recessive deafness 99	TMEM132E	124842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	TMEM138	51524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060944	episodic kinesigenic dyskinesia 3	TMEM151A	256472	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110989	Joubert syndrome 20 Aliases: JBTS20	TMEM231	79583	Homo sapiens (human)	Alliance of Genome Resources
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	TMEM231	79583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110074	arrhythmogenic right ventricular dysplasia 5 Aliases: ARVC5 ARVD5 arrhythmogenic right ventricular cardiomyopathy 5 familial arrhythmogenic right ventricular dysplasia 5	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112373	autosomal dominant auditory neuropathy 3 Aliases: AUNA3	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7 Aliases: EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	TMEM63A	9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070456	hereditary spastic paraplegia 87 Aliases: SPG87 autosomal recessive spastic paraplegia 87	TMEM63C	57156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1573	communicating hydrocephalus	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1088	meningocele	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111118	nephronophthisis 11 Aliases: NPHP11	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111001	Joubert syndrome 6 Aliases: JBTS6	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111667	enterokinase deficiency Aliases: congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase	TMPRSS15	5651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110527	autosomal recessive nonsyndromic deafness 8 Aliases: DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 childhood-onset neurosensory autosomal recessive deafness 8 neurosensory nonsyndromic recessive deafness 8	TMPRSS3	64699	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements