|
| Entrez Id: |
128989 |
| Gene Symbol: |
TANGO2 |
TANGO2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
|
26805781 |
2016 |
|
| Entrez Id: |
215 |
| Gene Symbol: |
ABCD1 |
ABCD1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
|
9452087 |
1998 |
|
| Entrez Id: |
3054 |
| Gene Symbol: |
HCFC1 |
HCFC1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57165 |
| Gene Symbol: |
GJC2 |
GJC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8492 |
| Gene Symbol: |
PRSS12 |
PRSS12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55187 |
| Gene Symbol: |
VPS13D |
VPS13D
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
857 |
| Gene Symbol: |
CAV1 |
CAV1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80821 |
| Gene Symbol: |
DDHD1 |
DDHD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4724 |
| Gene Symbol: |
NDUFS4 |
NDUFS4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55280 |
| Gene Symbol: |
CWF19L1 |
CWF19L1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79868 |
| Gene Symbol: |
ALG13 |
ALG13
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1183 |
| Gene Symbol: |
CLCN4 |
CLCN4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3329 |
| Gene Symbol: |
HSPD1 |
HSPD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
24140 |
| Gene Symbol: |
FTSJ1 |
FTSJ1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9215 |
| Gene Symbol: |
LARGE1 |
LARGE1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4125 |
| Gene Symbol: |
MAN2B1 |
MAN2B1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2521 |
| Gene Symbol: |
FUS |
FUS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4556 |
| Gene Symbol: |
TRNE |
TRNE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
ALDH18A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
85465 |
| Gene Symbol: |
SELENOI |
SELENOI
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5660 |
| Gene Symbol: |
PSAP |
PSAP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80208 |
| Gene Symbol: |
SPG11 |
SPG11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
PRICKLE1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|