RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4082168
Disease: Partial duplication of thumb phalanx
Partial duplication of thumb phalanx 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0040149
Disease: Subacute thyroiditis
Subacute thyroiditis 		disease Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2010 2010
CUI: C0085662
Disease: Macrocytosis
Macrocytosis 		disease Disease or Syndrome 13 0.010 None 1.000 1 1999 1999
CUI: C0154823
Disease: Retinal defect
Retinal defect 		phenotype Eye Diseases Anatomical Abnormality 13 0.010 None 1.000 1 2017 2017
CUI: C4285959
Disease: Erosive arthritis
Erosive arthritis 		disease Disease or Syndrome 13 0.010 None 1.000 1 2001 2001
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		disease Disease or Syndrome 14 1 0.070 None 0.857 7 1999 2019
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma 		disease Eye Diseases Disease or Syndrome 15 1 0.020 None 1.000 2 2017 2018
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2018 2018
CUI: C0683357
Disease: Excessive drinking
Excessive drinking 		phenotype Mental or Behavioral Dysfunction 15 1 0.010 None 1.000 1 2017 2017
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		phenotype Finding 16 0.100 None 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		phenotype Finding 17 0.100 None 0
CUI: C0685889
Disease: Splenic Hypoplasia
Splenic Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Congenital Abnormality 18 9 0.010 None 1.000 1 2019 2019
CUI: C0221239
Disease: Rapidly progressive glomerulonephritis
Rapidly progressive glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2003 2003
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 3 0.100 None 0
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 5 0.100 None 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.400 strong 1.000 2 1991 2004
CUI: C0265700
Disease: Congenital hernia of foramen of Bochdalek
Congenital hernia of foramen of Bochdalek 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 21 0.010 None 1.000 1 2019 2019
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.400 strong 1.000 2 1991 2004
CUI: C0028841
Disease: Ocular Hypotension
Ocular Hypotension 		disease Eye Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2012 2012
CUI: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2002 2002
CUI: C0741949
Disease: Cardiovascular Pathology
Cardiovascular Pathology 		disease Disease or Syndrome 23 0.010 None 1.000 1 2017 2017
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 24 13 0.020 None 1.000 2 2018 2020
CUI: C1282952
Disease: Enthesitis
Enthesitis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 26 0.010 None 1.000 1 2016 2016
CUI: C1827301
Disease: Extensively Drug-Resistant Tuberculosis
Extensively Drug-Resistant Tuberculosis 		phenotype Infections Disease or Syndrome 29 0.010 None 1.000 1 2011 2011
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic 		disease Nervous System Diseases Disease or Syndrome 31 0.040 None 1.000 4 2017 2019