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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 **7951 - 7975** of **15957** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	Map3k7	313121	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111785	frontometaphyseal dysplasia Aliases: FMD	MAP3K7	6885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111784	otopalatodigital syndrome type 2 Aliases: Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II	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
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	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: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	236732	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111779	X-linked panhypopituitarism Aliases: PHPX pituitary dwarfism IV	Sox1	20664	Mus musculus (house mouse)	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: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	12416	Mus musculus (house mouse)	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:0111774	46,XY sex reversal 7 Aliases: 46,XY gonadal dysgenesis, partial or complete, DHH-related 46,XY sex reversal, partial or complete, DHH-related GDXYM SRXY7 gonadal dysgenesis, XY, male limited	grd-2	180349	Caenorhabditis elegans	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:0111773	46,XY sex reversal 8 Aliases: SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase	GCY1 YPR1	851974 854287	Saccharomyces cerevisiae S288C	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:0111768	X-linked properdin deficiency Aliases: CFPD complement factor properdin deficiency	Cfp	18636	Mus musculus (house mouse)	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:0111766	X-linked VACTERL association Aliases: VACTERL association, X-linked with or without hydrocephalus VACTERLX	Zic3	22773	Mus musculus (house mouse)	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:0111758	Y-linked deafness 2 Aliases: DFNY2	TBL1Y	90665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111758	Y-linked deafness 2 Aliases: DFNY2	Tbl1x	21372	Mus musculus (house mouse)	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:0111753	infantile hypertrophic cardiomyopathy	ELAC2	60528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	Mme	24590	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111745	cerebellar ataxia type 43 Aliases: SCA43	MME	4311	Homo sapiens (human)	Alliance of Genome Resources

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