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: 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. 20231366 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group 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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		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: C0018418
Disease: Gynecomastia
Gynecomastia 		0.100 Biomarker disease HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.100 Biomarker phenotype HPO