Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.310 GermlineCausalMutation ORPHANET Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 29805041

2018
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.310 GeneticVariation BEFREE The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from that of other conditions and/or that certain functions of embryonic myosin might be perturbed by disruption of specific residues and/or domains. 25957469

2015