Source: CLINVAR ×
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: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 4 70 1.000 definitive 1.000 24 10 2006 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 25 129 0.700 None 1.000 11 14 2003 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 12 153 0.680 limited 1.000 4 2 2007 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 37 211 0.650 None 0.857 2 6 2008 2019
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		disease Disease or Syndrome 1 7 0.600 None 1.000 3 7 2006 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 13 82 0.500 None 1.000 4 3 1995 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 38 153 0.400 None 1.000 1 6 2016 2016
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 73 0.400 None 1.000 0 2 2007 2007
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 16 96 0.300 None 1.000 1 2 2003 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 26 98 0.200 None 0.927 2 7 1996 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 31 216 0.120 None 1.000 1 4 2005 2016
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		disease Neoplasms Neoplastic Process 27 179 0.110 None 1.000 1 2 2016 2019
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 33 0.110 None 1.000 1 2 2016 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 12 2 2002 2017
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 61 85 0.100 None 1.000 7 1 2006 2009
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 6 6 0.100 None 1.000 7 1 2006 2009
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 40 49 0.100 None 1.000 7 1 2006 2009
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 9 10 0.100 None 1.000 7 1 2006 2009
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 19 38 0.100 None 1.000 1 1 2008 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 19 70 0.100 None 1.000 1 1 2019 2019
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease Stomatognathic Diseases Disease or Syndrome 2 2 0.100 None 1.000 1 1 2008 2008
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 5 6 0.100 None 1.000 1 1 2008 2008
CUI: C0424492
Disease: Coarse features
Coarse features 		phenotype Finding 2 2 0.100 None 1.000 1 1 2008 2008
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 26 141 0.100 None 1.000 1 2 2016 2016
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 30 188 0.100 None 1.000 1 4 2016 2016