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: C0740997
Disease: Anemia, normochromic macrocytic
Anemia, normochromic macrocytic
disease Disease or Syndrome 1 0.030 None 1.000 3 2000 2019
CUI: C2751481
Disease: Mild radial hypoplasia
Mild radial hypoplasia
phenotype Finding 1 0.300 strong 1.000 2 1991 2004
CUI: C2751478
Disease: Bifid thoracic vertebrae
Bifid thoracic vertebrae
phenotype Finding 1 0.100 None 0
CUI: C2751479
Disease: Hypoplastic sacral vertebrae
Hypoplastic sacral vertebrae
phenotype Finding 1 0.100 None 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.020 None 1.000 2 1985 1991
CUI: C0427032
Disease: Ankle stiff
Ankle stiff
phenotype Sign or Symptom 2 0.010 None 1.000 1 2020 2020
CUI: C1867923
Disease: Posterior column ataxia
Posterior column ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C2751480
Disease: Hypoplastic coccygeal vertebrae
Hypoplastic coccygeal vertebrae
phenotype Finding 2 1 0.100 None 0
Decreased erythroid precursor production
disease Disease or Syndrome 3 0.070 None 0.857 7 1999 2019
CUI: C1542667
Disease: Congenital erythroid hypoplasia
Congenital erythroid hypoplasia
disease Congenital Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C2673892
Disease: Ductal plate malformation
Ductal plate malformation
disease Congenital Abnormality 3 0.010 None 1.000 1 2000 2000
Elevated red cell adenosine deaminase activity
phenotype Finding 3 0.100 None 0
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.010 None 1.000 1 1996 1996
Spondylometaphyseal dysplasia, Sedaghatian type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2018 2018
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.170 None 1.000 7 1997 2007
Behavioral syndrome associated with physiological disturbance and physical factors
disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2019 2019
CUI: C1853666
Disease: Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2003 2003
CUI: C0231706
Disease: Circling gait
Circling gait
phenotype Sign or Symptom 9 1 0.010 None 1.000 1 2019 2019
CUI: C0423319
Disease: Atrophic iris
Atrophic iris
disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2002 2002
CUI: C0741237
Disease: arthritis symptoms
arthritis symptoms
disease Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C0242490
Disease: Enthesopathy
Enthesopathy
disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 11 1 0.010 None 1.000 1 2000 2000
Inherited bone marrow failure syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2017 2017
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 13 0.690 None 0.941 17 12 1985 2018
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 5 0.010 None 1.000 1 2018 2018
Sudden unexplained death in epilepsy
disease Disease or Syndrome 12 0.010 None 1.000 1 2019 2019