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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 **2701 - 2725** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111727	geleophysic dysplasia 3 Aliases: GPHYSD3	LTBP3	4054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	TRPA1	8989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	SCN10A	6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111731	familial episodic pain syndrome 3 Aliases: FEPS3	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111735	X-linked deafness 4 Aliases: DFN6 DFNX4 X-linked progressive deafness 6 nonsyndromic sensorineural progressive deafness 6	SMPX	23676	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111740	X-linked deafness 6 Aliases: DFNX6	COL4A6	1288	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111741	X-linked deafness 5 Aliases: AUNX1 DFNX5 X-linked HSAN with deafness X-linked auditory neuropathy 1 with peripheral sensory neuropathy X-linked auditory neuropathy with peripheral sensory neuropathy type 1	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111742	cerebellar ataxia type 42 Aliases: SCA42	CACNA1G	8913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111743	cerebellar ataxia type 47 Aliases: SCA47	PUM1	9698	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111744	cerebellar ataxia type 41 Aliases: SCA41	TRPC3	7222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111753	infantile hypertrophic cardiomyopathy	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111758	Y-linked deafness 2 Aliases: DFNY2	TBL1Y	90665	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:0111768	X-linked properdin deficiency Aliases: CFPD complement factor properdin deficiency	CFP	5199	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111769	46,XY sex reversal 6 Aliases: 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related 46,XY sex reversal, partial or complete, MAP3K1-related SRXY6	MAP3K1	4214	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	AKR1C2 AKR1C4	1109 1646	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	CBX2	84733	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111777	46,XY sex reversal 2 Aliases: 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal	NR0B1	190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	RBM10	8241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111783	otopalatodigital syndrome type 1 Aliases: OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources

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