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: 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: 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: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		0.100 Biomarker disease HPO
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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		0.100 Biomarker phenotype HPO
CUI: C0239399
Disease: Short extremities
Short extremities 		0.100 Biomarker phenotype HPO
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.100 Biomarker phenotype HPO
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 CausalMutation disease CLINVAR
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 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 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: 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: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
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: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.100 Biomarker phenotype HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
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