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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		disease Anatomical Abnormality 39 2 0.100 None 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
CUI: C4025896
Disease: Abnormality of the penis
Abnormality of the penis 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.030 None 1.000 3 2013 2015
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2004 2004
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C1847319
Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 34 0.760 strong 1.000 63 26 2000 2019
CUI: C1868633
Disease: Paragangliomas with Sensorineural Hearing Loss
Paragangliomas with Sensorineural Hearing Loss 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 41 0.100 None 1.000 57 41 2000 2016
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23 98 0.600 definitive 1.000 32 16 1997 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 0.941 17 1 2000 2019
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.080 None 0.875 8 2003 2018
CUI: C0023343
Disease: Leprosy
Leprosy 		disease Infections Disease or Syndrome 190 120 0.080 None 1.000 8 2008 2020
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.040 None 1.000 4 2008 2017
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		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 56 6 0.030 None 1.000 3 2010 2018
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 45 0.720 None 1.000 3 3 2012 2015
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.030 None 1.000 3 2009 2015
CUI: C0265808
Disease: Cyanotic congenital heart disease
Cyanotic congenital heart disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 14 0.020 None 1.000 2 2017 2018