Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
A homozygous loss-of-function mutation in the gene RBM28 was recently reported to underlie alopecia, neurological defects, and endocrinopathy (ANE) syndrome.
|
20231366 |
2010 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
|
20231366 |
2010 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
|
18439547 |
2008 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
Biomarker
|
disease |
BEFREE |
RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.
|
25939713 |
2015 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Circular dichroism and NMR demonstrate that the ANE syndrome mutation in RRM3 of human RBM28 disrupts domain folding.
|
27077951 |
2016 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
|
20231366 |
2010 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
|
18439547 |
2008 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
|
18439547 |
2008 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Alopecia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
A homozygous loss-of-function mutation in the gene RBM28 was recently reported to underlie alopecia, neurological defects, and endocrinopathy (ANE) syndrome.
|
20231366 |
2010 |
Alopecia
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Dental caries
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Gynecomastia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypodontia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypogonadism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Lipodystrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Melanocytic nevus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Somatotropin deficiency
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypogonadotropic hypogonadism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Flexion contracture
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital kyphoscoliosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Kyphoscoliosis deformity of spine
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|