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: C4707092
Disease: Distal 17p13.3 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C2750748
Disease: Chromosome 17p13.3 Duplication Syndrome
Chromosome 17p13.3 Duplication Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C1858725
Disease: NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 3 2 0.200 None 1.000 1 2012 2012
CUI: C0751246
Disease: Illusions, Visual
Illusions, Visual 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
CUI: C1336899
Disease: Uterine Angiosarcoma
Uterine Angiosarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 6 0.010 None 1.000 1 2014 2014
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 6 0.010 None 1.000 1 2000 2000
CUI: C2959547
Disease: Endometrial sarcoma
Endometrial sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		disease Anatomical Abnormality 6 1 0.100 None 0
CUI: C0231779
Disease: Heel toe gait
Heel toe gait 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2019 2019
CUI: C1370723
Disease: Stromal sarcoma
Stromal sarcoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2013 2013
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0334695
Disease: Endometrial Stromal Tumors
Endometrial Stromal Tumors 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 9 0.010 None 1.000 1 2016 2016
CUI: C1334008
Disease: High Grade Sarcoma
High Grade Sarcoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2016 2016
CUI: C0205815
Disease: Leiomyosarcoma, Epithelioid
Leiomyosarcoma, Epithelioid 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2017 2017
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		phenotype Digestive System Diseases Sign or Symptom 13 1 0.010 None 1.000 1 2019 2019
CUI: C2239246
Disease: Endometrial stromal sarcoma, high grade
Endometrial stromal sarcoma, high grade 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 14 0.070 None 0.714 7 2014 2020
CUI: C0334486
Disease: Low Grade Endometrial Stromal Sarcoma
Low Grade Endometrial Stromal Sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 14 0.020 None 1.000 2 2015 2018
CUI: C4287594
Disease: Uterine Corpus High Grade Endometrial Stromal Sarcoma
Uterine Corpus High Grade Endometrial Stromal Sarcoma 		disease Neoplastic Process 15 0.050 None 1.000 5 2013 2018
CUI: C0009021
Disease: Clonorchiasis
Clonorchiasis 		disease Infections Disease or Syndrome 15 0.010 None 1.000 1 2012 2012
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 30 0.020 None 1.000 2 2017 2017
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 31 0.390 None 0.889 9 2012 2018
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		phenotype Sign or Symptom 33 12 0.010 None 1.000 1 2019 2019
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		phenotype Mental or Behavioral Dysfunction 33 33 0.010 None 1.000 1 2 2005 2005
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.010 None < 0.001 1 2019 2019