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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 **3976 - 4000** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080235	autosomal dominant intellectual developmental disorder 48 Aliases: autosomal dominant mental retardation 48	RAC1 RAC2 RAC3	5879 5880 5881	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT CCL2 CTLA4 ICAM1 IFNG IL10 IL1A IL1RN IL23R IL2 IL3 PPARG SERPINE1 TNF TSHR	149233 1493 3383 3458 3552 3557 3558 3562 3586 5054 5468 6347 7124 7253 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	DNAAF4 WNT5A	161582 7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	MYO7A	4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081341	congenital myopathy 5 Aliases: Salih myopathy congenital myopathy-5 with cardiomyopathy	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060198	amyotrophic lateral sclerosis type 6 Aliases: ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6	EWSR1 FUS	2130 2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070024	autosomal recessive dyskeratosis congenita 6 Aliases: DKCB6	PARN	5073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:7997	thyrotoxicosis	IL10	3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080263	autosomal recessive nonsyndromic deafness 108	ROR1	4919	Homo sapiens (human)	Alliance of Genome Resources
DOID:12030	panuveitis Aliases: Diffuse uveitis	CFH IFNG IL10	3075 3458 3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080463	developmental and epileptic encephalopathy 33 Aliases: DEE33 early infantile epileptic encephalopathy 33	EEF1A1 EEF1A2	1915 1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	FLRT3	23767	Homo sapiens (human)	Alliance of Genome Resources
DOID:4249	Gerstmann-Straussler-Scheinker syndrome Aliases: Gerstmann-Straussler-Scheinker disease PRION DEMENTIA	PRNP	5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070400	hypomyelinating leukodystrophy 19 Aliases: HLD19	TMEM63A	9725	Homo sapiens (human)	Alliance of Genome Resources
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	DRD1 TGFB1	1812 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112271	spermatogenic failure 49 Aliases: SPGF98	CFAP58	159686	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080333	aortic valve disease 1	ENPP1 IL6 NOTCH1	3569 4851 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	NOTCH3 PDGFRB	4854 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081203	autosomal recessive intellectual developmental disorder 38	HERC2	8924	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050669	spastic cerebral palsy	GAD1 GAD2	2571 2572	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GLCT	145173	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	MT2A NRG1	3084 4502	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	PHKG2	5261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110004	3-methylglutaconic aciduria type 3 Aliases: 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia	OPA3	80207	Homo sapiens (human)	Alliance of Genome Resources

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