WNT10B, Wnt family member 10B, 7480

N. diseases: 90; N. variants: 23
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		0.700 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		0.700 GeneticVariation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. 24211389 2014
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		0.700 GeneticVariation disease UNIPROT Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. 18515319 2008
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. 12072797 2002
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C2749665
Disease: SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND