×
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
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