RPL27, ribosomal protein L27, 6155

N. diseases: 23; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 GeneticVariation disease ORPHANET Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia. 25424902 2015
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 GeneticVariation disease BEFREE Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia. 25424902 2015
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 Biomarker disease GENOMICS_ENGLAND Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia. 25424902 2015
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 Biomarker disease GENOMICS_ENGLAND Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia. 25424902 2015
CUI: C4479424
Disease: DIAMOND-BLACKFAN ANEMIA 16
DIAMOND-BLACKFAN ANEMIA 16 		0.500 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902 2015
CUI: C4479424
Disease: DIAMOND-BLACKFAN ANEMIA 16
DIAMOND-BLACKFAN ANEMIA 16 		0.500 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902 2015
CUI: C4479424
Disease: DIAMOND-BLACKFAN ANEMIA 16
DIAMOND-BLACKFAN ANEMIA 16 		0.500 Biomarker disease CTD_human
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GeneticVariation disease ORPHANET Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902 2015
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 Biomarker disease HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 Biomarker group HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		0.100 Biomarker phenotype HPO