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: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 5 0.950 None 1.000 8 5 2009 2017
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 1 5 0.600 strong 1.000 2 5 2009 2018
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		disease Disease or Syndrome 1 9 0.700 limited 1.000 2 9 2005 2013
CUI: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 1 0.100 None 1.000 1 1 2016 2016
CUI: C0158784
Disease: Accessory skeletal muscle
Accessory skeletal muscle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C1274594
Disease: Lichenoid actinic keratosis
Lichenoid actinic keratosis 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C1334664
Disease: Mediastinal Lymphangioma
Mediastinal Lymphangioma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C1335389
Disease: Lipomatosis of Nerve
Lipomatosis of Nerve 		disease Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2020 2020
CUI: C3838879
Disease: Tubulolobular carcinoma
Tubulolobular carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C4520854
Disease: Stage I Colorectal Cancer AJCC v6 and v7
Stage I Colorectal Cancer AJCC v6 and v7 		disease Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0495640
Disease: Congenital malformation syndromes involving early overgrowth
Congenital malformation syndromes involving early overgrowth 		disease Disease or Syndrome 1 0.200 None 0
CUI: C3550024
Disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 		phenotype Finding 1 0.300 None 0
CUI: C4749056
Disease: MACRODACTYLY, SOMATIC
MACRODACTYLY, SOMATIC 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0011645
Disease: Dermatosis Papulosa Nigra
Dermatosis Papulosa Nigra 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine 		disease Congenital Abnormality 2 1 0.100 None 1.000 1 1 2019 2019
CUI: C0302894
Disease: Stucco keratosis
Stucco keratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0860581
Disease: Mucinous breast cancer
Mucinous breast cancer 		disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C1333472
Disease: Ethmoid Sinus Adenocarcinoma
Ethmoid Sinus Adenocarcinoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2006 2006
CUI: C1883722
Disease: Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7
Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7 		disease Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		disease Anatomical Abnormality 2 1 0.100 None 1.000 1 1 2019 2019
CUI: C0241665
Disease: Abnormal venous morphology
Abnormal venous morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C1265968
Disease: Hyperparakeratosis
Hyperparakeratosis 		phenotype Skin and Connective Tissue Diseases Finding 2 0.100 None 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		disease Congenital Abnormality 2 0.100 None 0
CUI: C0238034
Disease: Intraductal papilloma of breast
Intraductal papilloma of breast 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2017 2017