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: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 121 11 0.100 None 0 2
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 34 1 0.100 None 0 1
CUI: C0012811
Disease: Colon diverticulum anatomic structure
Colon diverticulum anatomic structure 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0 1
CUI: C0018916
Disease: Hemangioma
Hemangioma 		disease Neoplasms Neoplastic Process 256 24 0.100 None 0 1
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 26 1 0.100 None 0 1
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype Finding 27 2 0.100 None 0 1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.200 None 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.200 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0 1
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0 1
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.100 None 0 1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 19 4 0.100 None 0 1
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		disease Anatomical Abnormality 12 4 0.100 None 0 1
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		phenotype Finding 4 1 0.100 None 0 1
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 78 8 0.100 None 0 1
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 95 3 0.010 None < 0.001 1 2020 2020
CUI: C3887980
Disease: Protanomaly
Protanomaly 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 19 1 0.010 None < 0.001 1 2017 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.040 None 0.500 4 2012 2019
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 60 4 0.120 None 0.500 2 2 1997 2016
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.050 None 0.600 5 2000 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 0.667 3 2012 2019
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.040 None 0.750 4 2001 2012
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		disease Infections Disease or Syndrome 222 1 0.060 None 0.833 6 1991 2019