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 GeneticVariation disease UNIPROT Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		0.030 GeneticVariation disease BEFREE Only the isoform-specific sequences of PML-I and PML-V are highly conserved between man and mouse. 16778193 2006
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.010 GeneticVariation disease BEFREE Insulin-like growth factors II exon 9 and E-cadherin-Pml I but not myeloperoxidase promoter-463, urokinase-ApaL I nor xeroderma pigmentosum polymorphisms are associated with higher susceptibility to leiomyoma. 20651370 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE A trend toward association was found between schizophrenia and (i) genotype 11 of the Pml I polymorphism (p = 0.034; OR = 1.82); (ii) haplotype 1-2 for the Pml I and Bcl I polymorphisms (p = 0.022; OR = 1.75). 10490696 1999
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 GeneticVariation group BEFREE Insulin-like growth factors II exon 9 and E-cadherin-Pml I but not myeloperoxidase promoter-463, urokinase-ApaL I nor xeroderma pigmentosum polymorphisms are associated with higher susceptibility to leiomyoma. 20651370 2010
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 Biomarker disease GENOMICS_ENGLAND Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
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