SNIP1, Smad nuclear interacting protein 1, 79753

N. diseases: 45; N. variants: 2
Disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281055
Disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3281055
Disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 		0.600 GeneticVariation disease UNIPROT Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3281055
Disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3281055
Disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM 		0.600 CausalMutation disease CLINVAR