|
| Entrez Id: |
5981 |
| Gene Symbol: |
RFC1 |
RFC1
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
|
| Entrez Id: |
57231 |
| Gene Symbol: |
SNX14 |
SNX14
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
|
25848753 |
2015 |
|
| Entrez Id: |
5981 |
| Gene Symbol: |
RFC1 |
RFC1
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57231 |
| Gene Symbol: |
SNX14 |
SNX14
|
0.400 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6157 |
| Gene Symbol: |
RPL27A |
RPL27A
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models.
|
21674502 |
2011 |
|
| Entrez Id: |
6334 |
| Gene Symbol: |
SCN8A |
SCN8A
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
|
16236810 |
2006 |
|
| Entrez Id: |
26090 |
| Gene Symbol: |
ABHD12 |
ABHD12
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
|
29571850 |
2018 |
|
| Entrez Id: |
55280 |
| Gene Symbol: |
CWF19L1 |
CWF19L1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55768 |
| Gene Symbol: |
NGLY1 |
NGLY1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23111 |
| Gene Symbol: |
SPART |
SPART
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3475 |
| Gene Symbol: |
IFRD1 |
IFRD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9409 |
| Gene Symbol: |
PEX16 |
PEX16
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22 |
| Gene Symbol: |
ABCB7 |
ABCB7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5354 |
| Gene Symbol: |
PLP1 |
PLP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9474 |
| Gene Symbol: |
ATG5 |
ATG5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23114 |
| Gene Symbol: |
NFASC |
NFASC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9289 |
| Gene Symbol: |
ADGRG1 |
ADGRG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3746 |
| Gene Symbol: |
KCNC1 |
KCNC1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
54902 |
| Gene Symbol: |
TTC19 |
TTC19
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26090 |
| Gene Symbol: |
ABHD12 |
ABHD12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5521 |
| Gene Symbol: |
PPP2R2B |
PPP2R2B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6311 |
| Gene Symbol: |
ATXN2 |
ATXN2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11128 |
| Gene Symbol: |
POLR3A |
POLR3A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51300 |
| Gene Symbol: |
TIMMDC1 |
TIMMDC1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8913 |
| Gene Symbol: |
CACNA1G |
CACNA1G
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|