|
| Entrez Id: |
6314 |
| Gene Symbol: |
ATXN7 |
ATXN7
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.
|
25664129 |
2014 |
|
| Entrez Id: |
80746 |
| Gene Symbol: |
TSEN2 |
TSEN2
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
|
18711368 |
2008 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
|
18711368 |
2008 |
|
| Entrez Id: |
79042 |
| Gene Symbol: |
TSEN34 |
TSEN34
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
|
18711368 |
2008 |
|
| Entrez Id: |
7274 |
| Gene Symbol: |
TTPA |
TTPA
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.
|
10896705 |
2000 |
|
| Entrez Id: |
6314 |
| Gene Symbol: |
ATXN7 |
ATXN7
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7274 |
| Gene Symbol: |
TTPA |
TTPA
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80746 |
| Gene Symbol: |
TSEN2 |
TSEN2
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79042 |
| Gene Symbol: |
TSEN34 |
TSEN34
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3098 |
| Gene Symbol: |
HK1 |
HK1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Prevalence and architecture of de novo mutations in developmental disorders.
|
28135719 |
2017 |
|
| Entrez Id: |
54982 |
| Gene Symbol: |
CLN6 |
CLN6
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis.
|
23789114 |
2013 |
|
| Entrez Id: |
8842 |
| Gene Symbol: |
PROM1 |
PROM1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
63916 |
| Gene Symbol: |
ELMO2 |
ELMO2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
85365 |
| Gene Symbol: |
ALG2 |
ALG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3052 |
| Gene Symbol: |
HCCS |
HCCS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
27229 |
| Gene Symbol: |
TUBGCP4 |
TUBGCP4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8573 |
| Gene Symbol: |
CASK |
CASK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57697 |
| Gene Symbol: |
FANCM |
FANCM
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10083 |
| Gene Symbol: |
USH1C |
USH1C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3339 |
| Gene Symbol: |
HSPG2 |
HSPG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
HSD17B10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54903 |
| Gene Symbol: |
MKS1 |
MKS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51082 |
| Gene Symbol: |
POLR1D |
POLR1D
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|