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: C1275345
Disease: Familial mastocytosis
Familial mastocytosis
disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.040 None 1.000 4 1999 2013
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 2 0.310 None 1.000 3 2 2008 2014
CUI: C0413235
Disease: Idiopathic anaphylaxis
Idiopathic anaphylaxis
disease Immune System Diseases Disease or Syndrome 1 2 0.020 None 1.000 2 2 2017 2018
Monoclonal mast cell activation syndrome
disease Disease or Syndrome 1 2 0.020 None 1.000 2 2 2018 2019
CUI: C0178650
Disease: Gammopathy
Gammopathy
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0206672
Disease: Hidrocystoma
Hidrocystoma
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C0334432
Disease: Nonpigmented nevus
Nonpigmented nevus
disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 1995 1995
CUI: C0341215
Disease: Gastroduodenal intussusception
Gastroduodenal intussusception
disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1333460
Disease: Esophageal Melanoma
Esophageal Melanoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2009 2009
Gastrointestinal Stromal Tumor of the Gastrointestinal Tract
disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2003 2003
Intermediate Risk Gastrointestinal Stromal Tumor
disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
Spindle Cell Type Gastrointestinal Stromal Tumor
disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2015 2015
adult acute myeloid leukemia with inv(16)(p13;q22)
disease Neoplastic Process 1 0.010 None 1.000 1 2006 2006
CUI: C2931518
Disease: Plexosarcoma
Plexosarcoma
disease Digestive System Diseases; Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C4038952
Disease: Metastatic thymic carcinoma
Metastatic thymic carcinoma
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 2014 2014
CUI: C4040134
Disease: Metastatic seminoma
Metastatic seminoma
disease Neoplastic Process 1 0.010 None 1.000 1 2018 2018
Telangiectasia macularis eruptiva perstans
disease Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.400 None 0
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
disease Finding 1 3 0.100 None 0 3
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
disease Neoplastic Process 1 1 0.100 None 0 1
PIEBALDISM WITH SENSORINEURAL DEAFNESS
disease Finding 1 1 0.100 None 0 1
CUI: C4016297
Disease: PIEBALDISM, PROGRESSIVE
PIEBALDISM, PROGRESSIVE
disease Finding 1 1 0.100 None 0 1
CUI: C4509020
Disease: Isolated bone marrow mastocytosis
Isolated bone marrow mastocytosis
disease Disease or Syndrome 1 0.300 None 0
CUI: C4749053
Disease: MASTOCYTOSIS, SYSTEMIC, SOMATIC
MASTOCYTOSIS, SYSTEMIC, SOMATIC
disease Disease or Syndrome 1 1 0.100 None 0 1
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
disease Disease or Syndrome 1 1 0.100 None 0 1
Metastatic Gastrointestinal Stromal Tumor
disease Digestive System Diseases; Neoplasms Neoplastic Process 2 0.020 None 1.000 2 2007 2019