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: C0558920
Disease: Lump on thigh
Lump on thigh 		phenotype Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C1970269
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 7 8 0.010 None 1.000 1 2018 2018
CUI: C1707544
Disease: Cutaneous Fibrous Histiocytoma, Epithelioid Variant
Cutaneous Fibrous Histiocytoma, Epithelioid Variant 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2016 2016
CUI: C2717981
Disease: Poroma
Poroma 		disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2019 2019
CUI: C1533161
Disease: Eccrine Poroma
Eccrine Poroma 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2019 2019
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 15 0.300 None 1.000 1 2014 2014
CUI: C1266128
Disease: Ossifying fibromyxoid tumor
Ossifying fibromyxoid tumor 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2017 2017
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.010 None 1.000 1 2009 2009
CUI: C3899665
Disease: Childhood Epithelioid Hemangioendothelioma
Childhood Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.090 None 1.000 9 2011 2019
CUI: C3900104
Disease: Adult Epithelioid Hemangioendothelioma
Adult Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.090 None 1.000 9 2011 2019
CUI: C0018915
Disease: Hemangioendothelioma
Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.020 None 1.000 2 2019 2020
CUI: C0279546
Disease: Adult Undifferentiated Pleomorphic Sarcoma
Adult Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2016 2016
CUI: C3899638
Disease: Childhood Undifferentiated Pleomorphic Sarcoma
Childhood Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2016 2016
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		disease Neoplasms Neoplastic Process 29 0.100 None 1.000 12 2011 2019
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		disease Neoplasms Neoplastic Process 36 4 0.400 None 1.000 17 2011 2019
CUI: C0265797
Disease: Congenital emphysema
Congenital emphysema 		disease Respiratory Tract Diseases Congenital Abnormality 40 0.010 None 1.000 1 2018 2018
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 49 0.300 None 1.000 1 2014 2014
CUI: C0024620
Disease: Primary Malignant Liver Neoplasm
Primary Malignant Liver Neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 60 4 0.010 None 1.000 1 2019 2019
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
Gastric Cardia Adenocarcinoma 		disease Neoplastic Process 65 11 0.010 None 1.000 1 2019 2019
CUI: C0005694
Disease: Bladder neck obstruction
Bladder neck obstruction 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 67 0.010 None 1.000 1 2018 2018
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
Neoplasms, Vascular Tissue 		group Neoplasms Neoplastic Process 67 1 0.010 None 1.000 1 2015 2015
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 2016 2016
CUI: C0206696
Disease: Carcinoma, Signet Ring Cell
Carcinoma, Signet Ring Cell 		disease Neoplasms Neoplastic Process 70 6 0.010 None 1.000 1 2014 2014
CUI: C0278689
Disease: Recurrent ovarian cancer
Recurrent ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 71 1 0.010 None 1.000 1 2020 2020
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.010 None 1.000 1 2018 2018