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: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		disease Neoplasms Disease or Syndrome 1 37 0.700 definitive 1.000 7 37 2000 2014
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		disease Disease or Syndrome 1 13 0.600 strong 1.000 1 13 2012 2012
CUI: C3839982
Disease: Small cell carcinoma, hypercalcemic type
Small cell carcinoma, hypercalcemic type 		disease Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C2212006
Disease: Small cell carcinoma of ovary
Small cell carcinoma of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2 0.320 None 1.000 2 2015 2015
CUI: C0035440
Disease: Acute rheumatic heart disease
Acute rheumatic heart disease 		disease Infections; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C2985524
Disease: Rhabdoid tumor predisposition syndrome
Rhabdoid tumor predisposition syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 3 0.340 None 1.000 5 2010 2020
CUI: C0039981
Disease: Thoracic Neoplasms
Thoracic Neoplasms 		group Neoplasms Neoplastic Process 3 0.300 None 1.000 1 2015 2015
CUI: C1516865
Disease: Endometrial Undifferentiated Carcinoma
Endometrial Undifferentiated Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 4 0.020 None 1.000 2 2015 2020
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 4 6 0.010 None 1.000 1 2012 2012
CUI: C0346167
Disease: Undifferentiated carcinoma of ovary
Undifferentiated carcinoma of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 5 0.010 None 1.000 1 2015 2015
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 6 61 0.300 strong 1.000 1 2010 2010
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		phenotype Finding 6 0.100 None 0
CUI: C3899764
Disease: CIC-DUX Sarcoma
CIC-DUX Sarcoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C1518736
Disease: Ovarian Small Cell Carcinoma, Hypercalcemic Type
Ovarian Small Cell Carcinoma, Hypercalcemic Type 		disease Neoplastic Process 9 0.030 None 1.000 3 2014 2017
CUI: C4022120
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 		phenotype Finding 10 0.100 None 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 11 1 0.010 None 1.000 1 2012 2012
CUI: C4041089
Disease: Poorly differentiated sarcoma
Poorly differentiated sarcoma 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2019 2019
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		phenotype Finding 11 34 0.100 None 0 1
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		disease Anatomical Abnormality 11 3 0.100 None 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		disease Anatomical Abnormality 12 4 0.100 None 0
CUI: C2239246
Disease: Endometrial stromal sarcoma, high grade
Endometrial stromal sarcoma, high grade 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 14 0.310 moderate 1.000 2 2018 2019
CUI: C0282607
Disease: Vascular Neoplasms
Vascular Neoplasms 		group Neoplasms; Cardiovascular Diseases Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C1334271
Disease: Intraventricular Meningioma
Intraventricular Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 16 0.010 None 1.000 1 2019 2019
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype Finding 17 0.100 None 0