RSPO1, R-spondin 1, 284654

N. diseases: 81; N. variants: 3
Disease: Palmoplantar Hyperkeratosis And True Hermaphroditism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2674504
Disease: Palmoplantar Hyperkeratosis And True Hermaphroditism
Palmoplantar Hyperkeratosis And True Hermaphroditism 		0.300 GermlineCausalMutation disease ORPHANET R-spondin1 is essential in sex determination, skin differentiation and malignancy. 17041600 2006