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 **2151 - 2175** of **4649** in total

« First

‹ Prev

…

83

84

85

86

87

88

89

90

91

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111537	paroxysmal extreme pain disorder Aliases: PEPD PEXPD familial rectal pain submandibular, ocular and rectal pain with flushing	SCN9A	6335	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111536	Buschke-Ollendorff syndrome Aliases: BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata	ELN LEMD3	2006 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111535	progressive osseous heteroplasia Aliases: POH ectopic ossification familial type familial ectopic ossification osteoma cutis	BMP4 CTNNB1 GNAS SPARC SPP1	1499 2778 652 6678 6696	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111533	gnathodiaphyseal dysplasia Aliases: GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111532	osteoglophonic dysplasia Aliases: Fairbank-Keats syndrome OGD osteoglophonic dwarfism	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	HRAS KRAS NRAS	3265 3845 4893	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111526	Mullerian aplasia and hyperandrogenism Aliases: Mullerian duct failure and hyperandrogenism WNT4 deficiency	WNT4	54361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Aliases: PEOB5 autosomal recessive progressive external ophthalmoplegia 5	TOP3A	7156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Aliases: PEOA2 autosomal dominant progressive external ophthalmoplegia 2	SLC25A6	293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Aliases: metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	RUNX2	860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111512	metachondromatosis Aliases: METCDS	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111510	Marshall syndrome Aliases: MRSHS deafness, myopia, cataract, saddle nose-Marshall type	COL11A1	1301	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111507	Lenz-Majewski hyperostotic dwarfism Aliases: Lenz-Majewski syndrome	PTDSS1	9791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome Aliases: Bennion-Patterson syndrome Howell-Evans syndrome TOC keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma with esophageal cancer tylosis with esophageal cancer tylosis-oesophageal carcinoma syndrome	RHBDF2	79651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111504	Li-Fraumeni syndrome 2 Aliases: LFS2	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111496	combined oxidative phosphorylation deficiency 17 Aliases: COXPD17	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111495	combined oxidative phosphorylation deficiency 33 Aliases: COXPD33	C1QBP	708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111492	combined oxidative phosphorylation deficiency 32 Aliases: COXPD32	MRPS34	65993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111487	combined oxidative phosphorylation deficiency 7 Aliases: COXPD7 severe C12ORF65-related COXPD severe C12ORF65-related combined oxidative phosphorylation defect	MTRFR	91574	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