Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation phenotype CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 22884
Gene Symbol: WDR37
WDR37 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation phenotype CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 CausalMutation phenotype CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100507404
Gene Symbol: TMLHE-AS1
TMLHE-AS1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation phenotype CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1801
Gene Symbol: DPH1
DPH1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753 		0.100 Biomarker phenotype HPO
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.100 Biomarker phenotype HPO