KIF14, kinesin family member 14, 9928

N. diseases: 103; N. variants: 10
Disease: MECKEL SYNDROME 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. 30388224 2019
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 GermlineCausalMutation disease ORPHANET Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. 24128419 2014
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. 24128419 2014
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 CausalMutation disease CLINVAR
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 Biomarker disease GENOMICS_ENGLAND