|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation |
CLINVAR |
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
|
27473757 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation |
CLINVAR |
Here, we characterize the DNA-binding and transcription activation properties of 24 MITF mutations found in WS2A, TS and melanoma patients.
|
23787126 |
2013 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation |
CLINVAR |
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
|
23167872 |
2013 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation |
CLINVAR |
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
|
22012259 |
2011 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation |
CLINVAR |
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
|
22080950 |
2011 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Tietz syndrome
|
0.940 |
CausalMutation |
CLINVAR |
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
|
27473757 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Tietz syndrome
|
0.940 |
CausalMutation |
CLINVAR |
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
|
23787126 |
2013 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Tietz syndrome
|
0.940 |
CausalMutation |
CLINVAR |
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
|
23167872 |
2013 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Tietz syndrome
|
0.940 |
CausalMutation |
CLINVAR |
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
|
22012259 |
2011 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Tietz syndrome
|
0.940 |
CausalMutation |
CLINVAR |
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
|
22080950 |
2011 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Tietz syndrome
|
0.940 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Waardenburg Syndrome Type 2
|
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
|
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
0.700 |
GeneticVariation |
CLINVAR |
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
|
30414346 |
2019 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Waardenburg Syndrome
|
0.700 |
CausalMutation |
CLINVAR |
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
|
29531335 |
2018 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Waardenburg Syndrome
|
0.700 |
CausalMutation |
CLINVAR |
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
|
29115496 |
2018 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
0.700 |
GeneticVariation |
CLINVAR |
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
|
28125078 |
2017 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Waardenburg Syndrome
|
0.700 |
CausalMutation |
CLINVAR |
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
|
29094203 |
2017 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
0.700 |
CausalMutation |
CLINVAR |
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
|
27473757 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
0.700 |
CausalMutation |
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Waardenburg Syndrome
|
0.700 |
CausalMutation |
CLINVAR |
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
|
27889061 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Waardenburg Syndrome
|
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic investigation of families with type II Waardenburg syndrome.
|
26781036 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
Waardenburg Syndrome
|
0.700 |
CausalMutation |
CLINVAR |
A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
|
27073475 |
2016 |
|
| Entrez Id: |
4286 |
| Gene Symbol: |
MITF |
MITF
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
|
0.700 |
CausalMutation |
CLINVAR |
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
|
25803691 |
2015 |