RPS29, ribosomal protein S29, 6235

N. diseases: 32; N. variants: 2
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: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13
disease Disease or Syndrome 1 2 0.700 None 1.000 1 2 2014 2014
Elevated red cell adenosine deaminase activity
phenotype Finding 3 0.100 None 0
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.100 None 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 5 0.300 None 1.000 1 2014 2014
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype Finding 34 0.300 None 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 36 4 0.100 None 0
CUI: C3900097
Disease: Adult Penile Carcinoma
Adult Penile Carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 37 3 0.010 None 1.000 1 2019 2019
CUI: C0153601
Disease: Malignant neoplasm of penis
Malignant neoplasm of penis
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 39 3 0.010 None 1.000 1 2019 2019
CUI: C0853105
Disease: Penis carcinoma
Penis carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 49 3 0.010 None 1.000 1 2019 2019
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.100 None 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 51 2 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
CUI: C0018564
Disease: Hand deformities
Hand deformities
group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.100 None 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 38 0.510 strong 0.500 2 2 2014 2017
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 141 54 0.010 None 1.000 1 2015 2015
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.100 None 0