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: C0020074
Disease: HSAN Type IV
HSAN Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.800 None 1.000 51 3 1996 2020
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 55 33 0.750 limited 1.000 5 1995 2005
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 5 0.520 None 1.000 2 2 2001 2002
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 2 0.510 None 1.000 1 2006 2006
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2469 234 0.400 None 1.000 48 1 1992 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1293 193 0.400 None 1.000 36 1989 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2217 1332 0.360 None 1.000 6 1 1998 2019
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 0.350 None 1.000 5 2001 2017
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 2991 283 0.340 None 1.000 3 2007 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 665 21 0.320 None 1.000 2 2014 2019
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 67 4 0.310 strong 1.000 1 2017 2019
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 755 16 0.310 None 1.000 1 2008 2017
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 639 90 0.220 None 1.000 2 2008 2019
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 1731 714 0.220 None 1.000 2 2005 2013
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 347 4 0.210 None 1.000 1 1998 2010
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 329 66 0.200 None 1.000 15 1997 2018
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 20 2 0.140 None 1.000 4 1999 2017
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 0.130 None 1.000 3 1999 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1121 100 0.110 None 1.000 1 2018 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1679 213 0.110 None 1.000 1 2013 2019
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		disease Infections Disease or Syndrome 19 2 0.110 None 1.000 1 1999 1999
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 19 3 0.110 None 1.000 1 1999 1999
CUI: C0003892
Disease: Neurogenic arthropathy
Neurogenic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 6 2 0.110 None 1.000 1 2020 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.100 None 1.000 94 1 1989 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.100 None 0.957 70 1996 2019