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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 **2426 - 2450** of **15957** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism	Source
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	Prpsap1	67763	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: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:0111768	X-linked properdin deficiency Aliases: CFPD complement factor properdin deficiency	CFP	5199	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:0080353	X-linked recessive hypophosphatemic rickets	Clcn5	12728	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080353	X-linked recessive hypophosphatemic rickets	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POL1	855621	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections Aliases: primary ciliary dyskinesia-retinitis pigmentosa syndrome	Rpgr	19893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	IL2RG	3561	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060013	X-linked severe combined immunodeficiency Aliases: SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia	Il2rg	16186	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112128	X-linked severe congenital neutropenia Aliases: SCNX XLN	LAS17	854353	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050554	X-linked sideroblastic anemia with ataxia Aliases: Anemia sideroblastic and spinocerebellar ataxia Anemia, sideroblastic, spinocerebellar ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia	ABCB7	22	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070185	X-linked spermatogenic failure 2 Aliases: SPGFX2	SPO22	854737	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0112274	X-linked spermatogenic failure 3 Aliases: SPGFX3	CFAP47	286464	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	Uba1	22201	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111827	X-linked spinal muscular atrophy 2 Aliases: SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis	UBA1	7317	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	Bgn	12111	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	Bgn	25181	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	14071	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	24946	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	2158	Homo sapiens (human)	Alliance of Genome Resources

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