NIN, ninein, 51199

N. diseases: 52; N. variants: 7
Disease: SECKEL SYNDROME 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