SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; 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: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
disease Disease or Syndrome 49 13 1.000 definitive 0.972 71 10 2003 2019
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1
disease Disease or Syndrome 7 14 0.600 None 1.000 12 11 2003 2015
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.130 None 0.667 3 1 2004 2016
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.110 None 1.000 1 2012 2012
CUI: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2012 2012
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2012 2012
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2004 2004
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F
phenotype Finding 9 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 3
CUI: C0426789
Disease: Short thorax
Short thorax
phenotype Finding 51 8 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C0457756
Disease: Tooth absent
Tooth absent
phenotype Finding 5 6 0.100 None 0 2
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
phenotype Finding 17 0.100 None 0
Proximal femoral metaphyseal irregularity
phenotype Finding 7 0.100 None 0
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping
phenotype Finding 10 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
Irregular ossification at anterior rib ends
phenotype Finding 3 0.100 None 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch
phenotype Finding 7 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies
phenotype Finding 25 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.100 None 0
Enlargement of the costochondral junction
phenotype Finding 8 0.100 None 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE
phenotype Finding 68 0.100 None 0