NIN, ninein, 51199

N. diseases: 52; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. 23665482 2014
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 GermlineCausalMutation disease ORPHANET Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. 22933543 2012
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. 22933543 2012
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. 22933543 2012
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 CausalMutation disease CLINVAR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Genome-wide association study of germline variants and breast cancer-specific mortality. 30787463 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease BEFREE A two SNP combination of rs10145182 in NIN and rs2134808 in the TUBG1 locus (P-interaction = 0.00001), suggested SNPs in mediators of microtubule nucleation from the centrosome contribute to breast cancer. 20508983 2011
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease GWASCAT Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. 24925725 2014
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		0.100 GeneticVariation disease GWASCAT Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. 24925725 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 Biomarker disease HPO
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		0.100 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		0.100 Biomarker disease HPO
CUI: C0239399
Disease: Short extremities
Short extremities 		0.100 Biomarker phenotype HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		0.100 Biomarker disease HPO