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: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.100 None 0.985 464 1 1995 2020
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.300 None 0.971 35 1994 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.100 None 1.000 31 1998 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		disease Nervous System Diseases Disease or Syndrome 186 52 0.100 None 1.000 21 1997 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 1.000 20 2000 2020
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.100 None 1.000 18 1996 2018
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 8 0.100 None 0.909 11 1996 2018
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.100 None 1.000 10 2005 2018
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.090 None 1.000 9 1996 2019
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy 		disease Nervous System Diseases Disease or Syndrome 10 0.090 None 0.889 9 1995 2013
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.090 None 1.000 9 1996 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.070 None 1.000 7 2011 2018
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.070 None 1.000 7 1997 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.060 None 0.833 6 1999 2013
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 160 6 0.060 None 1.000 6 1998 2014
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 17 0.050 None 1.000 5 1996 2015
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.040 None 0.750 4 2001 2013
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.040 None 1.000 4 6 2006 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.040 None 0.750 4 2000 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 0.667 3 2001 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.030 None 1.000 3 2014 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.030 None 1.000 3 1996 1998
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases 		group Musculoskeletal Diseases Disease or Syndrome 16 0.030 None 1.000 3 2015 2017
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		disease Nervous System Diseases Disease or Syndrome 23 7 0.030 None 1.000 3 1998 2002
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 164 17 0.020 None 1.000 2 2017 2018