Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 343637
Gene Symbol: RSPO4
RSPO4 		0.700 GermlineCausalMutation disease 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 		0.700 Biomarker disease 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 		0.700 GeneticVariation disease 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 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 343637
Gene Symbol: RSPO4
RSPO4 		0.700 CausalMutation disease CLINVAR
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 3872
Gene Symbol: KRT17
KRT17 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.100 CausalMutation disease CLINVAR