RSPO4, R-spondin 4, 343637

N. diseases: 7; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		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
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		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
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		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
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 CausalMutation disease CLINVAR
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 GeneticVariation disease BEFREE Deactivating mutations in R-spondin 4 are associated with anonychia. 28247548 2017
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 GeneticVariation disease BEFREE A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family. 22300369 2013
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 GeneticVariation disease BEFREE Here, we expand the RSPO4 mutational spectrum by identification of the previously unknown mutations c.190C>T (p.Arg64Cys) in exon 2 and c.301C>T (p.Gln101X) in exon 3, thereby corroborating R-spondin 4 as the major protein in autosomal-recessive anonychia. 17914448 2008
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 GeneticVariation disease BEFREE Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. 17805348 2008
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 GeneticVariation disease BEFREE Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. 17186469 2006
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 GeneticVariation disease BEFREE The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. 17041604 2006
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 Biomarker disease HPO
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 Biomarker disease GENOMICS_ENGLAND
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.660 Biomarker disease CTD_human
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
CUI: C1285654
Disease: Memory performance
Memory performance 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE We detected RSPO2 and RSPO4 overexpression levels in BC, particularly in triple-negative BC (TNBC), metaplastic BC, and triple-negative cell lines. 28472820 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE We detected RSPO2 and RSPO4 overexpression levels in BC, particularly in triple-negative BC (TNBC), metaplastic BC, and triple-negative cell lines. 28472820 2017
CUI: C0432475
Disease: XX males
XX males 		0.010 GeneticVariation disease BEFREE Germline RSPO4 and RSPO1 mutations result in recessive anonychia (absence of all fingernails and toenails) and a recessive syndrome with XX-male sex reversal, PPK and a predisposition to SCC, respectively. 17426450 2007