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: C0238003
Disease: Adenocarcinoma of appendix
Adenocarcinoma of appendix 		disease Digestive System Diseases; Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2020 2020
CUI: C0334515
Disease: Mesothelioma, biphasic, malignant
Mesothelioma, biphasic, malignant 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		phenotype Finding 6 0.100 None 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		phenotype Disease or Syndrome 6 0.100 None 0
CUI: C0948627
Disease: Cancer of lymph node
Cancer of lymph node 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 7 0.010 None 1.000 1 2016 2016
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 36 0.300 None 1.000 2 2005 2013
CUI: C0496779
Disease: Malignant neoplasm of appendix
Malignant neoplasm of appendix 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 2 0.020 None 1.000 2 2019 2019
CUI: C1306050
Disease: Primary malignant neoplasm of appendix
Primary malignant neoplasm of appendix 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 2 0.020 None 1.000 2 2019 2019
CUI: C1963763
Disease: Failed Back Surgery Syndrome
Failed Back Surgery Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 0.020 None 0.500 2 2018 2020
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 2 0.010 None 1.000 1 2014 2014
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		disease Congenital Abnormality 8 1 0.010 None 1.000 1 1 2017 2017
CUI: C4019039
Disease: Intestinal obstruction co-occurrent and due to decreased peristalsis
Intestinal obstruction co-occurrent and due to decreased peristalsis 		disease Digestive System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C1853486
Disease: Widow's peak
Widow's peak 		disease Finding 9 0.100 None 0
CUI: C1857485
Disease: Flat forehead
Flat forehead 		phenotype Finding 11 0.100 None 0
CUI: C4021398
Disease: Metacarpal synostosis
Metacarpal synostosis 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C0751699
Disease: Minimally Conscious State
Minimally Conscious State 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 0.030 None 1.000 3 2018 2019
CUI: C2609247
Disease: Adrenal incidentaloma
Adrenal incidentaloma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 13 2 0.010 None 1.000 1 2018 2018
CUI: C0344191
Disease: Cerebellar decompression injury
Cerebellar decompression injury 		disease Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2019 2019
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		phenotype Finding 14 0.100 None 0
CUI: C0401146
Disease: Constipation - functional
Constipation - functional 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.310 None 1.000 2 2002 2004
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 8 0.010 None 1.000 1 1 2017 2017
CUI: C0426422
Disease: Narrow nose
Narrow nose 		phenotype Finding 17 1 0.100 None 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 17 1 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		disease Anatomical Abnormality 17 0.100 None 0