|
| Entrez Id: |
576 |
| Gene Symbol: |
ADGRB2 |
ADGRB2
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.
|
28891236 |
2017 |
|
| Entrez Id: |
59341 |
| Gene Symbol: |
TRPV4 |
TRPV4
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
|
21288981 |
2011 |
|
| Entrez Id: |
215 |
| Gene Symbol: |
ABCD1 |
ABCD1
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
|
9452087 |
1998 |
|
| Entrez Id: |
5147 |
| Gene Symbol: |
PDE6D |
PDE6D
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
60681 |
| Gene Symbol: |
FKBP10 |
FKBP10
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
389549 |
| Gene Symbol: |
FEZF1 |
FEZF1
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
9731 |
| Gene Symbol: |
CEP104 |
CEP104
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
2705 |
| Gene Symbol: |
GJB1 |
GJB1
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
8838 |
| Gene Symbol: |
CCN6 |
CCN6
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
26012 |
| Gene Symbol: |
NSMF |
NSMF
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
125988 |
| Gene Symbol: |
MICOS13 |
MICOS13
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
54941 |
| Gene Symbol: |
RNF125 |
RNF125
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
285025 |
| Gene Symbol: |
CCDC141 |
CCDC141
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
79152 |
| Gene Symbol: |
FA2H |
FA2H
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
127833 |
| Gene Symbol: |
SYT2 |
SYT2
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
2260 |
| Gene Symbol: |
FGFR1 |
FGFR1
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
8905 |
| Gene Symbol: |
AP1S2 |
AP1S2
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
2563 |
| Gene Symbol: |
GABRD |
GABRD
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
95681 |
| Gene Symbol: |
CEP41 |
CEP41
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
79600 |
| Gene Symbol: |
TCTN1 |
TCTN1
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
128989 |
| Gene Symbol: |
TANGO2 |
TANGO2
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
| Entrez Id: |
10716 |
| Gene Symbol: |
TBR1 |
TBR1
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
2643 |
| Gene Symbol: |
GCH1 |
GCH1
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
1763 |
| Gene Symbol: |
DNA2 |
DNA2
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|