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 **2376 - 2400** of **4649** in total

« First

‹ Prev

…

92

93

94

95

96

97

98

99

100

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111302	generalized epilepsy with febrile seizures plus 1 Aliases: GEFS+1 GEFSP1 generalised epilepsy with febrile seizures plus 1 generalised epilepsy with febrile seizures plus type 1 generalized epilepsy with febrile seizures plus type 1	SCN1B	6324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111305	familial febrile seizures 4 Aliases: FEB4 familial febrile convulsions 4	ADGRV1	84059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111310	familial febrile seizures 2 Aliases: FEB2 familial febrile convulsions 2	HCN2	610	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111312	idiopathic generalized epilepsy 11 Aliases: EIG11	CLCN2	1181	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111313	idiopathic generalized epilepsy 12 Aliases: EIG12	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111314	idiopathic generalized epilepsy 13 Aliases: EIG13	GABRA1	2554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111315	idiopathic generalized epilepsy 14 Aliases: EIG14	SLC12A5	57468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111322	idiopathic generalized epilepsy 8 Aliases: EIG8	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome Aliases: FOXP1 Haploinsufficiency FOXP1 syndrome FOXP1-Related Neurodevelopmental Disorder Mental retardation with language impairment and with or without autistic features	FOXP1	27086	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111332	Pitt-Hopkins-like syndrome 2 Aliases: PTHSL2	NRXN1	9378	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111334	congenital leptin deficiency Aliases: LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency	LEP	3952	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111337	Jackson-Weiss syndrome Aliases: JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome	FGFR1 FGFR2	2260 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ANO5	203859	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111340	dominant optic atrophy plus syndrome Aliases: DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111341	primary failure of tooth eruption Aliases: PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn Aliases: DEB, bullous dermolysis of the newborn DEB-BDN	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation Aliases: EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering	KRT5	3852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails Aliases: EBD, Bart type epidermolysis bullosa dystrophica, Bart type	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111348	multiple epiphyseal dysplasia with myopia and deafness Aliases: EDMMD multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia-myopia-deafness syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111349	hereditary desmoid disease Aliases: FIF familial infiltrative fibromatosis	APC	324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111351	D-2-hydroxyglutaric aciduria 1 Aliases: D2HGA1	D2HGDH	728294	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