|
| Entrez Id: |
112802 |
| Gene Symbol: |
KRT71 |
KRT71
|
0.600 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
|
22592156 |
2012 |
|
| Entrez Id: |
112802 |
| Gene Symbol: |
KRT71 |
KRT71
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis.
|
22592156 |
2012 |
|
| Entrez Id: |
112802 |
| Gene Symbol: |
KRT71 |
KRT71
|
0.600 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57003 |
| Gene Symbol: |
CCDC47 |
CCDC47
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
|
30401460 |
2018 |
|
| Entrez Id: |
147183 |
| Gene Symbol: |
KRT25 |
KRT25
|
0.400 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
|
26160856 |
2015 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
|
24006476 |
2014 |
|
| Entrez Id: |
121391 |
| Gene Symbol: |
KRT74 |
KRT74
|
0.400 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
|
21188418 |
2011 |
|
| Entrez Id: |
10161 |
| Gene Symbol: |
LPAR6 |
LPAR6
|
0.400 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
To identify mutations in LPAR6 and LIPH genes in 17 consanguineous Pakistani families showing features of hypotrichosis/woolly hair.
|
21426374 |
2011 |
|
| Entrez Id: |
200879 |
| Gene Symbol: |
LIPH |
LIPH
|
0.400 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
To identify mutations in LPAR6 and LIPH genes in 17 consanguineous Pakistani families showing features of hypotrichosis/woolly hair.
|
21426374 |
2011 |
|
| Entrez Id: |
121391 |
| Gene Symbol: |
KRT74 |
KRT74
|
0.400 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
|
20346438 |
2010 |
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
| Entrez Id: |
200879 |
| Gene Symbol: |
LIPH |
LIPH
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
121391 |
| Gene Symbol: |
KRT74 |
KRT74
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
147183 |
| Gene Symbol: |
KRT25 |
KRT25
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57003 |
| Gene Symbol: |
CCDC47 |
CCDC47
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3265 |
| Gene Symbol: |
HRAS |
HRAS
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
10161 |
| Gene Symbol: |
LPAR6 |
LPAR6
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8139 |
| Gene Symbol: |
GAN |
GAN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6499 |
| Gene Symbol: |
SKIV2L |
SKIV2L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
136647 |
| Gene Symbol: |
MPLKIP |
MPLKIP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1824 |
| Gene Symbol: |
DSC2 |
DSC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5317 |
| Gene Symbol: |
PKP1 |
PKP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1947 |
| Gene Symbol: |
EFNB1 |
EFNB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7053 |
| Gene Symbol: |
TGM3 |
TGM3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|