RPL26, ribosomal protein L26, 6154

N. diseases: 43; N. variants: 1
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: C3554042
Disease: DIAMOND-BLACKFAN ANEMIA 11
DIAMOND-BLACKFAN ANEMIA 11 		disease Disease or Syndrome 1 1 0.600 None 1.000 1 1 2012 2012
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 1.000 2 2012 2017
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 2012 2012
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 None 0
CUI: C4229584
Disease: Hypoplasia or aplasia of radius, unilateral
Hypoplasia or aplasia of radius, unilateral 		phenotype Finding 1 0.300 moderate 0
CUI: C4229582
Disease: Absent thumb, bilateral
Absent thumb, bilateral 		phenotype Finding 1 0.300 moderate 0
CUI: C1849327
Disease: Forearm reduction defects
Forearm reduction defects 		phenotype Finding 2 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 145 10 0.100 None 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.100 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: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.100 None 0
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 50 0.100 None 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		disease Anatomical Abnormality 10 3 0.100 None 0
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: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.100 None 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		disease Disease or Syndrome 25 4 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: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0