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: C0231246
Disease: Failure to gain weight
Failure to gain weight 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 2 0.100 None 1.000 1 2 2017 2017
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		phenotype Anatomical Abnormality 1 2 0.100 None 1.000 1 2 2017 2017
CUI: C4288091
Disease: Tubulocystic renal cell carcinoma
Tubulocystic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2017 2017
CUI: C4016396
Disease: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB 		phenotype Finding 1 4 0.100 None 0 4
CUI: C4329382
Disease: B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like
B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like 		disease Neoplastic Process 2 0.020 None 0.500 2 2018 2019
CUI: C1850780
Disease: Reduced leukocyte alkaline phosphatase
Reduced leukocyte alkaline phosphatase 		phenotype Finding 2 0.100 None 0
CUI: C1370657
Disease: Soft tissue perineurioma
Soft tissue perineurioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 3 0.010 None 1.000 1 2014 2014
CUI: C1370658
Disease: Intraneural perineurioma
Intraneural perineurioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology 		phenotype Finding 3 0.100 None 0
CUI: C1851835
Disease: Narrow maxilla
Narrow maxilla 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1292771
Disease: Chronic myelogenous leukemia, BCR/ABL positive
Chronic myelogenous leukemia, BCR/ABL positive 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 4 0.020 None 1.000 2 1992 2002
CUI: C2347507
Disease: Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		disease Neoplastic Process 4 0.020 None 0.500 2 2017 2019
CUI: C2347753
Disease: Adult Pure Erythroid Leukemia
Adult Pure Erythroid Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2005 2005
CUI: C1370868
Disease: Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 6 1 0.020 None 1.000 2 1 2011 2016
CUI: C1336840
Disease: Papillary renal cell carcinoma type 2
Papillary renal cell carcinoma type 2 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		phenotype Eye Diseases Finding 6 4 0.100 None 1.000 1 1 2017 2017
CUI: C4707057
Disease: Tetrasomy 21
Tetrasomy 21 		disease Disease or Syndrome 6 0.010 None 1.000 1 1995 1995
CUI: C0279549
Disease: Philadelphia chromosome negative chronic myelogenous leukemia
Philadelphia chromosome negative chronic myelogenous leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 7 0.060 None 0.833 6 1990 2005
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 7 12 0.100 None 1.000 5 2 2002 2014
CUI: C2861580
Disease: Chronic myeloid leukemia, BCR/ABL-positive
Chronic myeloid leukemia, BCR/ABL-positive 		disease Neoplasms Neoplastic Process 7 0.020 None 1.000 2 1999 2011
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 5 0.010 None 1.000 1 2009 2009
CUI: C1332970
Disease: Childhood Hematopoietic Neoplasm
Childhood Hematopoietic Neoplasm 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 0.030 None 1.000 3 2005 2018
CUI: C0278787
Disease: Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 0.020 None 1.000 2 2000 2019
CUI: C4289946
Disease: B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative
B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative 		disease Neoplastic Process 8 0.020 None 1.000 2 1992 2018