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: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.030 None 1.000 3 2005 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.620 strong 1.000 3 2005 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.030 None 1.000 3 2005 2011
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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.420 None 1.000 2 2 2007 2007
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		disease Immune System Diseases Disease or Syndrome 207 85 0.020 None 1.000 2 2008 2011
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.020 None 1.000 2 2009 2016
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.120 None 1.000 2 2009 2016
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.020 None 1.000 2 2006 2007
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.120 None 1.000 2 2009 2016
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 0.020 None 1.000 2 2006 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.110 None < 0.001 1 2006 2006
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.300 strong 1.000 1 2017 2017
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.110 None 1.000 1 2012 2012
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.110 None 1.000 1 2007 2007
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.010 None 1.000 1 2016 2016
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2005 2005
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.300 strong 1.000 1 2017 2017
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.010 None 1.000 1 2006 2006
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		disease Digestive System Diseases Disease or Syndrome 82 26 0.110 None 1.000 1 2007 2007
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 64 12 0.010 None 1.000 1 2007 2007
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2011 2011
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2007 2007