Entrez Id: |
8942 |
Gene Symbol: |
KYNU |
KYNU
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
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: |
80816 |
Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
Entrez Id: |
55650 |
Gene Symbol: |
PIGV |
PIGV
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
5888 |
Gene Symbol: |
RAD51 |
RAD51
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
2314 |
Gene Symbol: |
FLII |
FLII
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
3295 |
Gene Symbol: |
HSD17B4 |
HSD17B4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
473 |
Gene Symbol: |
RERE |
RERE
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
57539 |
Gene Symbol: |
WDR35 |
WDR35
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
283489 |
Gene Symbol: |
CHAMP1 |
CHAMP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
9508 |
Gene Symbol: |
ADAMTS3 |
ADAMTS3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
6611 |
Gene Symbol: |
SMS |
SMS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
9839 |
Gene Symbol: |
ZEB2 |
ZEB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
91949 |
Gene Symbol: |
COG7 |
COG7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
29123 |
Gene Symbol: |
ANKRD11 |
ANKRD11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
27315 |
Gene Symbol: |
PGAP2 |
PGAP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
3190 |
Gene Symbol: |
HNRNPK |
HNRNPK
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
5889 |
Gene Symbol: |
RAD51C |
RAD51C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
51109 |
Gene Symbol: |
RDH11 |
RDH11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
5192 |
Gene Symbol: |
PEX10 |
PEX10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
29089 |
Gene Symbol: |
UBE2T |
UBE2T
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
64919 |
Gene Symbol: |
BCL11B |
BCL11B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
284058 |
Gene Symbol: |
KANSL1 |
KANSL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Entrez Id: |
27245 |
Gene Symbol: |
AHDC1 |
AHDC1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|