FECD3_TCF4
- Gene
- TCF4
- Disease
- FECD3
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 18
- Publications Reviewed
- 8
- Publication Span
- 9.41 years
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:25168903 | 6 | 68 affected individuals + 1 unaffected with expansion but 46 affected with expansion | probands:46 |
| Singular Evidence | Probands | PMID:24255041 | 6 | probands:120 |
| Collective Evidence | Allele | PMID:25168903 | 1 | penetrance |
| Collective Evidence | Segregation | PMID:24255041 | 1.5 | LOD = 2.4 | families:2; affected:4 |
| Statistics | Case-control data | PMID:30267097 | 6 | 4 affected in 2 families, significant fischer and t-test |
| Statistics | Case-control data | PMID:25168903 | 6 | strong associated: P = 6 × 10−26; Genotype quality score, HWE, and regression analyses |
| Statistics | Case-control data | PMID:28832669 | 6 | significant regression |
| Statistics | Case-control data | PMID:27755191 | 6 | significant regression |
8 rows
Experimental evidence
Total: 6
| Function | Biochemical function | PMID:25593321 | 0.5 | RNA binding |
| Function | Protein interaction | |||
| Function | Regulatory impact | PMID:29526280 PMID:25593321 | 1 | splicing evidence for both papers |
| Functional Alteration | Patient cells | PMID:25593321 | 0.5 | patient corneal cells | certainly studied patient cells... just doesn't say how many |
| Functional Alteration | Patient cells | PMID:25168903 | 0.5 | Leukocyte DNA | 68 affected individuals, only 46 have expansion | patients: 68 |
| Functional Alteration | Non-patient cells | PMID:25593321 | 0.5 | non patient corneal cells |
| Functional Alteration | Non-patient cells | PMID:24255041 | 0.5 | humans | controls:100 |
| Functional Alteration | Non-patient cells | PMID:25168903 | 0.5 | Leukocyte DNA | controls:16 |
| Models | Non-human model organism | PMID:37169279 | 2 | mouse cornea |
| Rescue | Rescue in cell culture | PMID:29526280 | 1 | ASO |
10 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.