KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: Bohring syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.310 GeneticVariation disease BEFREE Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. 30300710 2019
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.310 GermlineCausalMutation disease ORPHANET Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 29074562 2017