|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
|
27889061 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
MGD |
Novel ENU-induced eye mutations in the mouse: models for human eye disease.
|
11929848 |
2002 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
MGD |
Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus.
|
10886015 |
2000 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
MGD |
Mitfmi-enu122 is a missense mutation in the HLH dimerization domain.
|
9501313 |
1998 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
|
9158138 |
1997 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
MGD |
Mast cells in spotted mutant mice (W Ph mi).
|
6127714 |
1982 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
MGD |
The relationship between abnormalities of pigmentation and of the inner ear.
|
4392283 |
1970 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
MGD |
The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus.
|
4963367 |
1967 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
7299 |
| Gene Symbol: |
TYR |
TYR
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic background-dependent role of Egr1 for eyelid development.
|
28778995 |
2017 |
|
| Entrez Id: |
7299 |
| Gene Symbol: |
TYR |
TYR
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).
|
9158138 |
1997 |
|
| Entrez Id: |
7299 |
| Gene Symbol: |
TYR |
TYR
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7299 |
| Gene Symbol: |
TYR |
TYR
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
7299 |
| Gene Symbol: |
TYR |
TYR
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|