Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 GeneticVariation phenotype CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.100 CausalMutation phenotype CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		0.100 CausalMutation phenotype CLINVAR
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: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1896
Gene Symbol: EDA
EDA 		0.100 CausalMutation phenotype CLINVAR