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 **6776 - 6800** of **15957** in total

« First

‹ Prev

…

268

269

270

271

272

273

274

275

276

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0110424	dilated cardiomyopathy 1CC Aliases: CMD1CC	NEXN	91624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110326	hypertrophic cardiomyopathy 20 Aliases: CMH20 cardiomyopathy familial hypertrophic 20	NEXN	91624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly Aliases: Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type IIA	NEK1	4750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081378	amyotrophic lateral sclerosis type 24	NEK1 NEK9	4750 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:643	progressive multifocal leukoencephalopathy	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	NEFL PRNP	4747 5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC Aliases: CMT2CC Charcot-Marie-Tooth neuropathy type 2CC	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040089	autoimmune optic neuritis	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	NEDD4 NEDD4L SCNN1A SCNN1B SCNN1G WWP2	11060 23327 4734 6337 6338 6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	NECTIN1	5818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	NECAP1	25977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112081	nuclear type mitochondrial complex I deficiency 8 Aliases: MC1DN8	NDUFS3	4722	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	NDUFB8	4714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111876	linear skin defects with multiple congenital anomalies 3 Aliases: LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112091	nuclear type mitochondrial complex I deficiency 34 Aliases: MC1DN34	NDUFAF8	284184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	NDUFAF2	91942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	NDRG1	10397	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