Source: BEFREE ×
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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 402 146 0.700 limited 1.000 10 1 1992 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.110 None 1.000 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1219 153 0.110 None 1.000 1 2017 2017
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1480 182 0.100 None 0.957 23 2011 2020
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 599 54 0.040 None 1.000 4 1992 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.030 None 1.000 3 2010 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2010 2019
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 73 40 0.030 None 1.000 3 1994 1995
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1694 178 0.020 None 1.000 2 2018 2018
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 99 14 0.020 None 1.000 2 2018 2019
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.020 None 1.000 2 1 1995 2017
CUI: C0037011
Disease: Shoulder Pain
Shoulder Pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 13 7 0.020 None 1.000 2 2017 2018
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 143 37 0.020 None 1.000 2 1996 1997
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 9 0.020 None 1.000 2 2018 2019
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 27 0.020 None 1.000 2 2017 2018
CUI: C1833142
Disease: contracture of elbow
contracture of elbow 		phenotype Acquired Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0948722
Disease: Loss of cervical lordosis
Loss of cervical lordosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 137 27 0.010 None 1.000 1 2019 2019
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 179 43 0.010 None 1.000 1 2019 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 39 10 0.010 None 1.000 1 2010 2010
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 68 25 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6500 2145 0.010 None 1.000 1 2019 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4280 858 0.010 None 1.000 1 2019 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355 0.010 None 1.000 1 2019 2019
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 204 25 0.010 None 1.000 1 2019 2019