| Trichothiodystrophy |
33364 |
ERCC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ERCC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GTF2E2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GTF2H5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MPLKIP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RNF113A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TARS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Trichothiodystrophy Syndromes |
C1955934 |
ERCC2
|
Causal
Pathogenic evidence from ClinVar
|
12393803 |
ClinVar |
|
ERCC3
|
Causal
Pathogenic evidence from ClinVar
|
12393803 |
ClinVar |
|
GTF2E2
|
Causal
Pathogenic evidence from ClinVar
|
26996949 |
ClinVar |
|
GTF2H5
|
Causal
Pathogenic evidence from ClinVar
|
12393803 |
ClinVar |
|
MPLKIP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RNF113A
|
Causal
Pathogenic evidence from ClinVar
|
25612912 |
ClinVar |
| TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE |
C4225344 |
ERCC3
|
Causal
Pathogenic evidence from ClinVar
|
9012405 |
ClinVar |
| TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE |
C4310785 |
GTF2E2
|
Causal
Pathogenic evidence from ClinVar
|
26996949 |
ClinVar |
| TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE |
C4017171 |
GTF2H5
|
Causal
Pathogenic evidence from ClinVar
|
15220921 |
ClinVar |
| Tricho-thiodystrophy disorder |
C0432267 |
MPLKIP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Trichothiodystrophy, Nonphotosensitive 1 |
C4083251 |
MPLKIP
|
Causal
Pathogenic evidence from ClinVar
|
26880286 |
ClinVar |
| TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE |
C4225420 |
RNF113A
|
Causal
Pathogenic evidence from ClinVar
|
23555887, 29144457 |
ClinVar |
