Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2312
Gene Symbol: FLG
FLG 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6909
Gene Symbol: TBX2
TBX2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation phenotype CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 112939
Gene Symbol: NACC1
NACC1 		0.100 CausalMutation phenotype CLINVAR