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: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		disease Disease or Syndrome 3 40 0.700 None 1.000 20 40 2009 2018
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		disease Disease or Syndrome 3 15 0.700 None 1.000 18 15 2009 2018
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.030 None 0.667 3 1988 2017
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.030 None 0.667 3 1988 2017
CUI: C0334619
Disease: HODGKIN'S AND NON-HODGKIN'S LYMPHOMA
HODGKIN'S AND NON-HODGKIN'S LYMPHOMA 		disease Neoplastic Process 17 1 0.020 None 1.000 2 2011 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.020 None 1.000 2 1994 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.020 None 1.000 2 2015 2019
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		disease Finding 166 374 0.100 None 1.000 2 2 2019 2019
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		disease Finding 166 370 0.100 None 1.000 2 2 2019 2019
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		phenotype Finding 165 368 0.100 None 1.000 2 2 2019 2019
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.020 None 1.000 2 1994 2017
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		disease Finding 166 373 0.100 None 1.000 2 2 2019 2019
CUI: C0281710
Disease: Childhood Large Cell Lymphoma
Childhood Large Cell Lymphoma 		disease Neoplastic Process 30 0.010 None 1.000 1 2002 2002
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
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 2017 2017
CUI: C0853112
Disease: Chronic infection with HIV
Chronic infection with HIV 		disease Disease or Syndrome 48 0.010 None 1.000 1 2018 2018
CUI: C0862636
Disease: Adenocarcinoma of the prostate metastatic
Adenocarcinoma of the prostate metastatic 		disease Neoplastic Process 11 0.010 None 1.000 1 2018 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1332153
Disease: acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome 		disease Neoplastic Process 49 1 0.010 None 1.000 1 1998 1998
CUI: C1334170
Disease: Indolent Non-Hodgkin Lymphoma
Indolent Non-Hodgkin Lymphoma 		disease Neoplastic Process 27 0.010 None 1.000 1 2017 2017
CUI: C1335667
Disease: Reactive Lymphocytosis
Reactive Lymphocytosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2006 2006
CUI: C1335779
Disease: Retroperitoneal Lymphoma
Retroperitoneal Lymphoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C1541567
Disease: Adult Oligodendroglial Tumor
Adult Oligodendroglial Tumor 		disease Neoplastic Process 14 2 0.010 None 1.000 1 1 2011 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2015 2015
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease Neoplastic Process 350 19 0.010 None 1.000 1 1994 1994