Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation phenotype CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 124454
Gene Symbol: EARS2
EARS2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation phenotype CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation phenotype CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
Entrez Id: 10056
Gene Symbol: FARSB
FARSB 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25839
Gene Symbol: COG4
COG4 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR