|
| Entrez Id: |
79152 |
| Gene Symbol: |
FA2H |
FA2H
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| 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: |
57679 |
| Gene Symbol: |
ALS2 |
ALS2
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
80208 |
| Gene Symbol: |
SPG11 |
SPG11
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
6687 |
| Gene Symbol: |
SPG7 |
SPG7
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
9757 |
| Gene Symbol: |
KMT2B |
KMT2B
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| 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: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
57479 |
| Gene Symbol: |
PRR12 |
PRR12
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
80208 |
| Gene Symbol: |
SPG11 |
SPG11
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
3508 |
| Gene Symbol: |
IGHMBP2 |
IGHMBP2
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| 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 |
|
ALDH18A1
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
55154 |
| Gene Symbol: |
MSTO1 |
MSTO1
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| 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 |
|
|
|