|
| 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: |
8942 |
| Gene Symbol: |
KYNU |
KYNU
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
| Entrez Id: |
9401 |
| Gene Symbol: |
RECQL4 |
RECQL4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54539 |
| Gene Symbol: |
NDUFB11 |
NDUFB11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8726 |
| Gene Symbol: |
EED |
EED
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
26040 |
| Gene Symbol: |
SETBP1 |
SETBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8642 |
| Gene Symbol: |
DCHS1 |
DCHS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79633 |
| Gene Symbol: |
FAT4 |
FAT4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6299 |
| Gene Symbol: |
SALL1 |
SALL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9487 |
| Gene Symbol: |
PIGL |
PIGL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
64840 |
| Gene Symbol: |
PORCN |
PORCN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
93210 |
| Gene Symbol: |
PGAP3 |
PGAP3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
37 |
| Gene Symbol: |
ACADVL |
ACADVL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
153241 |
| Gene Symbol: |
CEP120 |
CEP120
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
284098 |
| Gene Symbol: |
PIGW |
PIGW
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
145173 |
| Gene Symbol: |
B3GLCT |
B3GLCT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84720 |
| Gene Symbol: |
PIGO |
PIGO
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26005 |
| Gene Symbol: |
C2CD3 |
C2CD3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1349 |
| Gene Symbol: |
COX7B |
COX7B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9968 |
| Gene Symbol: |
MED12 |
MED12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1009 |
| Gene Symbol: |
CDH11 |
CDH11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3052 |
| Gene Symbol: |
HCCS |
HCCS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51339 |
| Gene Symbol: |
DACT1 |
DACT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SLC25A24
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|