Disease: Curly hair-ankyloblepharon-nail dysplasia syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764278537
rs764278537
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
CUI: C0406733
Disease:
Curly hair-ankyloblepharon-nail dysplasia syndrome 		0.700 GeneticVariation UNIPROT Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. 26129644 2015
dbSNP: rs764278537
rs764278537
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
CUI: C0406733
Disease:
Curly hair-ankyloblepharon-nail dysplasia syndrome 		0.700 GeneticVariation UNIPROT Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. 23610050 2013