RBM28, RNA binding motif protein 28, 55131

N. diseases: 44; N. variants: 1
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
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
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 		0.730 Biomarker disease CTD_human
CUI: C2677535
Disease: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 		0.730 CausalMutation disease CLINVAR