CDC42, cell division cycle 42, 998

N. diseases: 327; N. variants: 16
Disease: TAKENOUCHI-KOSAKI SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease BEFREE Further studies and the accumulation of patients with CDC42 mutations are needed to clarify the phenotype in patients with TKS and the pathophysiological roles of the CDC42 mutation. 29335451 2018
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. 29394990 2018
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. 26708094 2016
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GermlineCausalMutation disease ORPHANET Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. 26708094 2016
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease UNIPROT Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. 26708094 2016
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GermlineCausalMutation disease ORPHANET Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease UNIPROT Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. 26386261 2015
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 CausalMutation disease CLINVAR
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 GeneticVariation disease CLINVAR
CUI: C4225222
Disease: TAKENOUCHI-KOSAKI SYNDROME
TAKENOUCHI-KOSAKI SYNDROME 		0.710 Biomarker disease CTD_human