NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: Multiple synostoses syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 GermlineCausalMutation disease ORPHANET Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations. 25241334 2014
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 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: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 GermlineCausalMutation disease ORPHANET Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. 20503332 2010
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 GeneticVariation disease UNIPROT Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. 20503332 2010
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 Biomarker disease GENOMICS_ENGLAND A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 17668388 2007
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 GeneticVariation disease BEFREE In contrast to most NOG mutations that have been reported in kindreds with SYM1 and SYNS1, the mutations observed in these families with stapes ankylosis without symphalangism are predicted to disrupt the cysteine-rich C-terminal domain. 12089654 2002
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 GeneticVariation disease BEFREE This study investigated the effect of one SYNS1 and two SYM1 disease-causing missense mutations on the structure and function of noggin. 11562478 2001
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 GeneticVariation disease UNIPROT Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 10080184 1999
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 CausalMutation disease CLINVAR
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1 		0.730 Biomarker disease CTD_human