RBM28, RNA binding motif protein 28, 55131

N. diseases: 44; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4476953
Disease: Abnormal response to ACTH stimulation test
Abnormal response to ACTH stimulation test 		0.100 Biomarker phenotype HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 Biomarker phenotype HPO
CUI: C4023211
Disease: Adrenocorticotropin deficient adrenal insufficiency
Adrenocorticotropin deficient adrenal insufficiency 		0.100 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
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
CUI: C0002170
Disease: Alopecia
Alopecia 		0.110 Biomarker disease HPO
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 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 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 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 CTD_human
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 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 CausalMutation disease CLINVAR
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		0.100 Biomarker phenotype HPO
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		0.100 Biomarker phenotype HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0011334
Disease: Dental caries
Dental caries 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		0.010 AlteredExpression group BEFREE Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. 18439547 2008