NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: Multiple synostosis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features. 25391606 2015
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 Biomarker disease BEFREE A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family. 25888563 2015
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE Noggin is encoded by NOG and mutations in the gene are associated with aberrant skeletal formation, such as in the autosomal dominant disorders proximal symphalangism (SYM1), multiple synostoses syndrome, Teunissen-Cremers syndrome, and tarsal-carpal coalition syndrome. 24735539 2014
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations. 25241334 2014
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GermlineCausalMutation disease ORPHANET Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations. 25241334 2014
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 Biomarker disease BEFREE Human noggin (NOG) is a responsible gene for multiple synostosis syndrome (SYNS1) and proximal symphalangism (SYM1), two conditions that are recently known to be within a wider range of clinical manifestations of stapes ankylosis with symphalangism. 22288654 2012
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GermlineCausalMutation disease ORPHANET Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. 20503332 2010
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE The deletion encompassed NOG, a gene responsible for multiple synostosis syndrome 1. 18449926 2008
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene. 16532400 2006
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE Although fixation of the stapes is usually progressive and secondary to otosclerosis, it may present congenitally, with other skeletal manifestations, as an autosomal dominant syndrome-such as proximal symphalangism (SYM1) or multiple-synostoses syndrome (SYNS1), both of which are caused by mutations in NOG, the gene encoding noggin. 12089654 2002
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. 11846737 2001
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE In humans, heterozygous NOG missense mutations have been found in patients with two autosomal dominant disorders of joint development, multiple synostosis syndrome (SYNS1) and a milder disorder proximal symphalangism (SYM1). 11562478 2001
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 GeneticVariation disease BEFREE We also found a dominant NOG mutation in a family segregating multiple synostoses syndrome (SYNS1; OMIM 186500); both SYM1 and SYNS1 have multiple joint fusion as their principal feature. 10080184 1999
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND