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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 **13526 - 13550** of **15957** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0080353	X-linked recessive hypophosphatemic rickets	CLCN5	1184	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:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	41104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112105	X-linked parkinsonism-spasticity syndrome Aliases: X-linked Parkinsonism with spasticity XPDS	ATP6AP2	10159	Homo sapiens (human)	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:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	PRPSAP1	5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	Prpsap1	67763	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	Clcn5	12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	Avpr2	12000	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	Avpr2	25108	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	ntr-1 ntr-2	184471 188227	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Aliases: OLMSX X-linked Olmsted syndrome	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Aliases: OLMSX X-linked Olmsted syndrome	Mbtps2	270669	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	Atrx	22589	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	Arhgap26	71302	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	ARHGAP26 OPHN1	23092 4983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	Rbmx	19655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060706	X-linked lymphoproliferative syndrome 2 Aliases: XIAP deficiency XLP2	XIAP	331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	SH2D1A	4068	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112238	X-linked lissencephaly 2 Aliases: X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome XLAG XLAG (X-linked lissencephaly with abnormal genitalia) syndrome XLIS2	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources

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