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: 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: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.030 GeneticVariation disease BEFREE We detected no genome-wide significant association signals for CP; however, we found suggestive evidence of association (P < 5 × 10(-6)) for six loci, including NIN, NPY, WNT5A for severe CP and NCR2, EMR1, 10p15 for moderate CP. 23459936 2013
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.030 Biomarker disease BEFREE In summary, our findings provide direct evidence for the association of NIN and SIGLEC5 with CP susceptibility. 30765789 2019
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.030 GeneticVariation disease BEFREE Six genes showed evidence of statistically significant association: 4 with severe CP (NIN, p = 1.6 × 10(-7); ABHD12B, p = 3.6 × 10(-7); WHAMM, p = 1.7 × 10(-6); AP3B2, p = 2.2 × 10(-6)) and 2 with high periodontal pathogen colonization (red complex-KCNK1, p = 3.4 × 10(-7); Porphyromonas gingivalis-DAB2IP, p = 1.0 × 10(-6)). 25056994 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.020 GeneticVariation disease BEFREE Moreover, compound heterozygous missense mutations at more N-terminal positions of Ninein have very recently been identified in a family with microcephalic primordial dwarfism. 23665482 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.020 GeneticVariation disease BEFREE Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. 22933543 2012
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.020 GeneticVariation disease BEFREE NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder. 15087377 2004
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.020 GeneticVariation disease BEFREE We identified a novel clinical subtype of MPD in two sisters who have rare variants in NIN. 22933543 2012
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 AlteredExpression group BEFREE A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors. 15147888 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 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: C0007097
Disease: Carcinoma
Carcinoma 		0.010 Biomarker group BEFREE NIN/RPN Binding protein 1 homologue (NOBp1), encoded by NOB1 gene, was reported to play an essential role in the oncogenesis and prognosis of carcinomas. 24133592 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.010 GeneticVariation group BEFREE NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder. 15087377 2004
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Our data clearly reflect such tumor promotion, showing that deregulation of key proteins involved in apoptosis (BCL2-related protein A1 and Fas apoptotic inhibitory molecule), cell cycle checkpoints (AKIP, SCYL1, and NIN), and metastasis (matrix metalloproteinase 1) is closely correlated with the levels of EBV gene expression in NPC. 16912175 2006
CUI: C0028259
Disease: Nodule
Nodule 		0.010 Biomarker phenotype BEFREE Nodule-in-nodule-type hepatocellular carcinoma (NIN-HCC) is a useful model to illustrate the multi-step nature of hepatocarcinogenesis. 16462536 2006
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.010 GeneticVariation disease BEFREE Five transcription factors (TFs) belonging to three distinct TF families: one TCP (OsPCF2), one CPP (OsCPP5) and three NIN-like (OsNIN-like2, OsNIN-like3 and OsNIN-like4) were identified as binding to OsNHX1 promoter. 27766460 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Taken together, we have isolated a novel protein CGI-99, which may be involved in the functional regulation of human ninein in the centrosome structure and may also be important in brain development and tumorigenesis. 15147888 2004
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		0.010 Biomarker disease BEFREE Nodule-in-nodule-type hepatocellular carcinoma (NIN-HCC) is a useful model to illustrate the multi-step nature of hepatocarcinogenesis. 16462536 2006
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.010 GeneticVariation disease BEFREE Five transcription factors (TFs) belonging to three distinct TF families: one TCP (OsPCF2), one CPP (OsCPP5) and three NIN-like (OsNIN-like2, OsNIN-like3 and OsNIN-like4) were identified as binding to OsNHX1 promoter. 27766460 2017
CUI: C1863732
Disease: Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with multiple dislocations 		0.010 GeneticVariation disease BEFREE We present several lines of evidence that mutant Ninein is most likely causative for the SEMDJL2-like phenotype. 23665482 2014
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 AlteredExpression disease BEFREE Our data clearly reflect such tumor promotion, showing that deregulation of key proteins involved in apoptosis (BCL2-related protein A1 and Fas apoptotic inhibitory molecule), cell cycle checkpoints (AKIP, SCYL1, and NIN), and metastasis (matrix metalloproteinase 1) is closely correlated with the levels of EBV gene expression in NPC. 16912175 2006
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: 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: 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