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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 **2451 - 2475** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111275	speech-language disorder-1 Aliases: CAS articulatory apraxia childhood apraxia of speech developmental apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	HADHA HADHB	3030 3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	SLC29A3	55315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111279	psoriasis 7 Aliases: PSORS7	IL23R	149233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111286	psoriasis 1 Aliases: PSORS1	HLA-C	3107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111287	psoriasis 13 Aliases: PSORS13	TRAF3IP2	10758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111292	idiopathic generalized epilepsy 10 Aliases: EIG10	GABRD	2563	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111298	familial febrile seizures 8 Aliases: FEB8 familial febrile convulsions 8	GABRG2	2566	Homo sapiens (human)	Alliance of Genome Resources
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:0111330	combined saposin deficiency Aliases: PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency	PSAP	5660	Homo sapiens (human)	Glyco-Disease Genes Database 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

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