Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.730 GermlineCausalMutation disease ORPHANET Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations. 25241334 2014
Entrez Id: 9241
Gene Symbol: NOG
NOG 		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
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.730 GermlineCausalMutation disease ORPHANET Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. 20503332 2010
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.730 GeneticVariation disease UNIPROT Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. 20503332 2010
Entrez Id: 9241
Gene Symbol: NOG
NOG 		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
Entrez Id: 9241
Gene Symbol: NOG
NOG 		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
Entrez Id: 9241
Gene Symbol: NOG
NOG 		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
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.730 GeneticVariation disease UNIPROT Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 10080184 1999
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.730 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.730 CausalMutation disease CLINVAR
Entrez Id: 9241
Gene Symbol: NOG
NOG 		0.730 Biomarker disease CTD_human
Entrez Id: 2254
Gene Symbol: FGF9
FGF9 		0.500 Biomarker disease MGD A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. 28169396 2017
Entrez Id: 2254
Gene Symbol: FGF9
FGF9 		0.500 GermlineCausalMutation disease ORPHANET Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 19589401 2009
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.500 GermlineCausalMutation disease ORPHANET GDF5 is a second locus for multiple-synostosis syndrome. 16532400 2006
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		0.500 Biomarker disease MGD