Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2535
Gene Symbol: FZD2
FZD2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
0.100 GeneticVariation phenotype CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590 2016
Entrez Id: 55072
Gene Symbol: RNF31
RNF31
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23432
Gene Symbol: GPR161
GPR161
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 27201
Gene Symbol: GPR78
GPR78
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100996295
Gene Symbol: DNAH17-AS1
DNAH17-AS1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 3623
Gene Symbol: INHA
INHA
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 463
Gene Symbol: ZFHX3
ZFHX3
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79959
Gene Symbol: CEP76
CEP76
0.100 GeneticVariation phenotype CLINVAR
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: 80267
Gene Symbol: EDEM3
EDEM3
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57644
Gene Symbol: MYH7B
MYH7B
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 85015
Gene Symbol: USP45
USP45
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10076
Gene Symbol: PTPRU
PTPRU
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9909
Gene Symbol: DENND4B
DENND4B
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
0.100 GeneticVariation phenotype CLINVAR
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: 5190
Gene Symbol: PEX6
PEX6
0.100 GeneticVariation phenotype CLINVAR