Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 343637
Gene Symbol: RSPO4
RSPO4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 GermlineCausalMutation ORPHANET RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4. 17914448

2008
Entrez Id: 343637
Gene Symbol: RSPO4
RSPO4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 Biomarker GENOMICS_ENGLAND RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4. 17914448

2008
Entrez Id: 343637
Gene Symbol: RSPO4
RSPO4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 GeneticVariation UNIPROT The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. 17041604

2006
Entrez Id: 343637
Gene Symbol: RSPO4
RSPO4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 343637
Gene Symbol: RSPO4
RSPO4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 CausalMutation CLINVAR

Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.100 CausalMutation CLINVAR

Entrez Id: 3872
Gene Symbol: KRT17
KRT17
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.100 CausalMutation CLINVAR

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.100 CausalMutation CLINVAR