NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: Syndactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE A not previously reported mutation in the NOG gene (c.688_699del, p.Cys230_Cys232delins11) was found to segregate with the stapes fixation, syndactyly, and symphalangism. p.Cys230_Cysdelins11 was classified as likely pathogenic according to guidelines from the American College of Medical Genetics and Genomics. 29605356 2018
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease BEFREE We investigated the physiological role of NOG in ICD and found that Noggin null mice display cutaneous syndactyly and impaired interdigital mesenchyme specification. 29771958 2018
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE Dominant mutations in NOG may lead to a series of symphalangism spectrum disorders. 25888563 2015
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism. 25391606 2015
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder. 26474326 2015
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease BEFREE All patients displayed NOG-related bone and joint features, including symphalangism and facial dysmorphology. 23361222 2013
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE None of the otosclerosis patients without symphalangism had NOG mutations, indicating that NOG mutations may be restrictively found within patients with various skeletal abnormalities. 22288654 2012
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease BEFREE NOG gene mutations, which lead to aberrant noggin protein function, give rise to a large spectrum of clinical findings and different symphalangism syndromes. 21358557 2011
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia. 18983945 2009
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively. 16127465 2005
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 GeneticVariation disease BEFREE These clinical and molecular findings suggest that (1) a broader range of conductive hearing-loss phenotypes are associated with NOG mutations than had previously been recognized, (2) patients with sporadic or familial nonsyndromic otosclerosis should be evaluated for mild features of this syndrome, and (3) NOG alterations should be considered in conductive hearing loss with subtle clinical and skeletal features, even in the absence of symphalangism. 12089654 2002