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), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **226 - 250** of **7942** in total

« First

‹ Prev

…

6

7

8

9

10

11

12

13

14

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:0111083	Fanconi anemia complementation group D2 Aliases: FA4 FAD2 FANCD2 Fanconi pancytopenia type 4	FUT1 NTHL1	2523 4913	Homo sapiens (human)	DisGeNET
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	ACSBG1 ADH1C ALDH2 ARSA B3GALT4 CAT COMT FH GALC GAPDH GBA1 GLA KL NTM OGG1 PAFAH1B1 PLA2G6 PSAP PTGDS PTGS2 SARM1 SLC17A5 SMPD1 ST3GAL2 VCAM1	126 1312 217 2271 23098 23205 2581 2597 2629 26503 2717 410 4968 5048 50863 5660 5730 5743 6483 6609 7412 8398 847 8705 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	GCDH IDH2 L2HGDH	2639 3418 79944	Homo sapiens (human)	DisGeNET
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLA2 SUCLG1	8802 8803	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070194	autosomal recessive chronic granulomatous disease 3 Aliases: CDG3 autosomal recessive chronic granulomatous disease cytochrome b-positive type III autosomal recessive cytochrome b-positive CGD type III chronic granulomatous disease due to NCF4 deficiency	MGAT2	4247	Homo sapiens (human)	DisGeNET
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110352	retinitis pigmentosa 59 Aliases: RP59	DHDDS	79947	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111120	nephronophthisis 9 Aliases: NPHP9	LGALS1	3956	Homo sapiens (human)	DisGeNET
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7A1 CYP7B1	1581 9420	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080459	developmental and epileptic encephalopathy 12 Aliases: DEE12 early infantile epileptic encephalopathy 12	PLCB1	23236	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110645	long QT syndrome 2 Aliases: LQT2	ALG10 ALG10B SCD	144245 6319 84920	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050575	D-2-hydroxyglutaric aciduria	GCDH IDH1 IDH2 L2HGDH	2639 3417 3418 79944	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	SPTLC2	9517	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	GYG1	2992	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060535	Warsaw breakage syndrome Aliases: WABS	PARP1	142	Homo sapiens (human)	DisGeNET
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6 Aliases: MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6	LARGE1	9215	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	FKRP	79147	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4253	melorheostosis	CPO PTGS2	130749 5743	Homo sapiens (human)	DisGeNET
DOID:0060567	erythema elevatum diutinum	CYP19A1	1588	Homo sapiens (human)	DisGeNET
DOID:0050780	obsolete Opitz-GBBB syndrome	GPC3 HK2 PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 SMUG1	23583 2719 3099 5290 5291 5293 5294 5563	Homo sapiens (human)	DisGeNET
DOID:2106	myotonia congenita Aliases: Batten Turner congenital myopathy Thomsen and Becker disease	CLC	1178	Homo sapiens (human)	DisGeNET

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

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements