CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
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: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 8 0.030 None 1.000 3 3 2010 2011
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.010 None 1.000 1 2015 2015
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.010 None 1.000 1 2012 2012
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		disease Neoplasms; Immune System Diseases Neoplastic Process 94 11 0.030 None 1.000 3 2012 2016
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.020 None 1.000 2 2015 2017
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 121 8 0.010 None 1.000 1 2019 2019
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0 1
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None 1.000 1 1998 1998
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 158 28 0.050 None 1.000 5 2012 2018
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 162 15 0.010 None 1.000 1 2017 2017
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0 1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.800 strong 1.000 29 4 2009 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.010 None 1.000 1 2014 2014
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 182 3 0.010 None 1.000 1 1998 1998
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 0.010 None 1.000 1 2010 2010
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 196 7 0.010 None 1.000 1 2017 2017
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0 1