|
TSPEAR-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
|
27736875 |
2016 |
|
| Entrez Id: |
54084 |
| Gene Symbol: |
TSPEAR |
TSPEAR
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
|
27736875 |
2016 |
|
| Entrez Id: |
84617 |
| Gene Symbol: |
TUBB6 |
TUBB6
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
|
| Entrez Id: |
10939 |
| Gene Symbol: |
AFG3L2 |
AFG3L2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
|
| Entrez Id: |
6310 |
| Gene Symbol: |
ATXN1 |
ATXN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55154 |
| Gene Symbol: |
MSTO1 |
MSTO1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3060 |
| Gene Symbol: |
HCRT |
HCRT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22891 |
| Gene Symbol: |
ZNF365 |
ZNF365
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2720 |
| Gene Symbol: |
GLB1 |
GLB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6712 |
| Gene Symbol: |
SPTBN2 |
SPTBN2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55157 |
| Gene Symbol: |
DARS2 |
DARS2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23064 |
| Gene Symbol: |
SETX |
SETX
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4340 |
| Gene Symbol: |
MOG |
MOG
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10159 |
| Gene Symbol: |
ATP6AP2 |
ATP6AP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29072 |
| Gene Symbol: |
SETD2 |
SETD2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55129 |
| Gene Symbol: |
ANO10 |
ANO10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1512 |
| Gene Symbol: |
CTSH |
CTSH
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
56997 |
| Gene Symbol: |
COQ8A |
COQ8A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
196528 |
| Gene Symbol: |
ARID2 |
ARID2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23111 |
| Gene Symbol: |
SPART |
SPART
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8309 |
| Gene Symbol: |
ACOX2 |
ACOX2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
215 |
| Gene Symbol: |
ABCD1 |
ABCD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
HLA-DQB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
HLA-DRB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|