SNIP1, Smad nuclear interacting protein 1, 79753

N. diseases: 45; N. variants: 2
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
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.100 CausalMutation disease CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.100 Biomarker disease HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		0.100 Biomarker disease HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 Biomarker phenotype HPO
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1843108
Disease: Short palm
Short palm 		0.100 Biomarker phenotype HPO