Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 CausalMutation phenotype CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25839
Gene Symbol: COG4
COG4 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR
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: 1615
Gene Symbol: DARS1
DARS1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 GeneticVariation phenotype CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2581
Gene Symbol: GALC
GALC 		0.100 GeneticVariation 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: 2778
Gene Symbol: GNAS
GNAS 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 CausalMutation phenotype CLINVAR