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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 **4376 - 4400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110590	autosomal dominant nonsyndromic deafness 69 Aliases: DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness	KITLG	4254	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060936	dystonia 28 childhood-onset Aliases: DYSTONIA 28, CHILDHOOD-ONSET DYT28	KMT2B	9757	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080339	familial erythrocytosis 4 Aliases: ECYT4	EPAS1	2034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111765	X-linked cardiac valvular dysplasia Aliases: CVD1 Dystrophie valvulaire associee a FLNA EDS 5 Ehlers-Danlos syndrome, type 5 FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia XMVD	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures Aliases: IDDALDS	TANC1 TANC2	26115 85461	Homo sapiens (human)	Alliance of Genome Resources
DOID:5768	Nager acrofacial dysostosis Aliases: AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis	SF3B4	10262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110646	long QT syndrome 3 Aliases: LQT3	SCN5A	6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	REEP4	80346	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081202	autosomal recessive intellectual developmental disorder 37	ANK3	288	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110709	hypotrichosis 12 Aliases: Hypt12	RPL21	6144	Homo sapiens (human)	Alliance of Genome Resources
DOID:1319	brain cancer Aliases: BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain	AURKB HES1 L3MBTL1 L3MBTL4 LLGL1 LLGL2 MYC NOTCH1 NOTCH2 NOTCH3 NUMBL TERT VPS26A	26013 3280 3993 3996 4609 4851 4853 4854 7015 91133 9212 9253 9559	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060788	hypomyelinating leukodystrophy 10 Aliases: HLD10	PYCR2	29920	Homo sapiens (human)	Alliance of Genome Resources
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	APOA5 APOC2	116519 344	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110365	retinitis pigmentosa 28 Aliases: RP28	FAM161A	84140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	CCT4 DNMT1 DST NTRK1 SCN11A SPTLC1 WNK1	10558 10575 11280 1786 4914 65125 667	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	CACNG2	10369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081325	developmental and epileptic encephalopathy 94	CHD2	1106	Homo sapiens (human)	Alliance of Genome Resources
DOID:6270	gastric cardia carcinoma Aliases: carcinoma of Cardia of stomach	XRCC1	7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081143	agammaglobulinemia 8B	TCF3	6929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:10024	migraine with aura Aliases: classic migraine	ATP1A2 CACNA1A DBH DRD2	1621 1813 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111641	autosomal recessive nonsyndromic deafness 94 Aliases: DFNB94 autosomal recessive deafness 94	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:3087	gingivitis Aliases: acute gingivitis chronic gingivitis	FMOD IL6 VEGFA	2331 3569 7422	Homo sapiens (human)	Alliance of Genome Resources

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