|
| Entrez Id: |
6904 |
| Gene Symbol: |
TBCD |
TBCD
|
0.400 |
Biomarker
|
disease |
CTD_human |
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
|
27666370 |
2016 |
|
| Entrez Id: |
6904 |
| Gene Symbol: |
TBCD |
TBCD
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.
|
12427913 |
2002 |
|
| Entrez Id: |
6531 |
| Gene Symbol: |
SLC6A3 |
SLC6A3
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
|
22279524 |
2012 |
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5551 |
| Gene Symbol: |
PRF1 |
PRF1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
57679 |
| Gene Symbol: |
ALS2 |
ALS2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10342 |
| Gene Symbol: |
TFG |
TFG
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2260 |
| Gene Symbol: |
FGFR1 |
FGFR1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4158 |
| Gene Symbol: |
MC2R |
MC2R
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5631 |
| Gene Symbol: |
PRPS1 |
PRPS1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3845 |
| Gene Symbol: |
KRAS |
KRAS
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9131 |
| Gene Symbol: |
AIFM1 |
AIFM1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6770 |
| Gene Symbol: |
STAR |
STAR
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10134 |
| Gene Symbol: |
BCAP31 |
BCAP31
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
133686 |
| Gene Symbol: |
NADK2 |
NADK2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
11284 |
| Gene Symbol: |
PNKP |
PNKP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2556 |
| Gene Symbol: |
GABRA3 |
GABRA3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
100134444 |
| Gene Symbol: |
KCNJ18 |
KCNJ18
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
56246 |
| Gene Symbol: |
MRAP |
MRAP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10587 |
| Gene Symbol: |
TXNRD2 |
TXNRD2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
779 |
| Gene Symbol: |
CACNA1S |
CACNA1S
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
23530 |
| Gene Symbol: |
NNT |
NNT
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
TRAPPC2L
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|