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: C0749794
Disease: Upper Extremity Deformities, Congenital
Upper Extremity Deformities, Congenital 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.300 None 1.000 1 2015 2015
CUI: C4020918
Disease: Dysharmonic bone age
Dysharmonic bone age 		phenotype Pathologic Function 1 0.100 None 0
CUI: C4479654
Disease: COHEN-GIBSON SYNDROME
COHEN-GIBSON SYNDROME 		disease Disease or Syndrome 2 5 0.020 None 1.000 2 2019 2019
CUI: C4020912
Disease: Flared humeral metaphysis
Flared humeral metaphysis 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0220765
Disease: Weaver-Like Syndrome
Weaver-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 3 0.210 None 1.000 2 2018 2018
CUI: C0334482
Disease: Fetal rhabdomyoma
Fetal rhabdomyoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C1334030
Disease: Histiocytic and Dendritic Cell Neoplasm
Histiocytic and Dendritic Cell Neoplasm 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 3 2 0.010 None 1.000 1 2018 2018
CUI: C3263719
Disease: Primary acquired melanosis
Primary acquired melanosis 		disease Neoplasms; Eye Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 2018 2018
CUI: C4025674
Disease: Flared femoral metaphysis
Flared femoral metaphysis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0476122
Disease: ovarian serous tumor
ovarian serous tumor 		disease Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C1883694
Disease: Intraocular Medulloepithelioma
Intraocular Medulloepithelioma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2016 2016
CUI: C0007659
Disease: Cementoma
Cementoma 		disease Neoplasms Neoplastic Process 5 1 0.010 None 1.000 1 2018 2018
CUI: C0010673
Disease: Endometrial cystic hyperplasia
Endometrial cystic hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 5 0.010 None 1.000 1 2019 2019
CUI: C0334477
Disease: Cellular leiomyoma
Cellular leiomyoma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C3277753
Disease: Deep-set nails
Deep-set nails 		phenotype Finding 5 0.100 None 0
CUI: C0349672
Disease: Endometrioid carcinoma of prostate
Endometrioid carcinoma of prostate 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0597645
Disease: Viral Carcinogenesis
Viral Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C2026186
Disease: Diffuse large B-cell lymphoma of central nervous system
Diffuse large B-cell lymphoma of central nervous system 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 7 0.010 None 1.000 1 2016 2016
CUI: C3809874
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 		disease Neoplastic Process 7 1 0.010 None 1.000 1 2013 2013
CUI: C4531084
Disease: Mucinous colorectal carcinoma
Mucinous colorectal carcinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 13 0.800 None 1.000 20 13 2011 2019
CUI: C1260326
Disease: Dendritic Cell Sarcoma, Interdigitating
Dendritic Cell Sarcoma, Interdigitating 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 2 0.010 None 1.000 1 2018 2018
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		phenotype Finding 8 2 0.100 None 0
CUI: C1336082
Disease: Thymic Squamous Cell Carcinoma
Thymic Squamous Cell Carcinoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C1337012
Disease: Well-differentiated papillary mesothelioma
Well-differentiated papillary mesothelioma 		disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2017 2017