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: C3714934
Disease: MYOPATHY, MYOFIBRILLAR, 3
MYOPATHY, MYOFIBRILLAR, 3 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2007 2007
CUI: C3897070
Disease: Childhood Gliomatosis Cerebri
Childhood Gliomatosis Cerebri 		disease Neoplasms Neoplastic Process 9 6 0.010 None 1.000 1 1 2011 2011
CUI: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri 		disease Neoplasms Neoplastic Process 10 6 0.010 None 1.000 1 1 2011 2011
CUI: C1335110
Disease: Oligodendroglial Neoplasm
Oligodendroglial Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 14 2 0.010 None 1.000 1 2015 2015
CUI: C1541567
Disease: Adult Oligodendroglial Tumor
Adult Oligodendroglial Tumor 		disease Neoplastic Process 14 2 0.010 None 1.000 1 2015 2015
CUI: C0038506
Disease: Stuttering
Stuttering 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 8 0.010 None 1.000 1 2020 2020
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		group Nervous System Diseases Disease or Syndrome 40 0.300 None 1.000 1 2012 2012
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		group Nervous System Diseases Disease or Syndrome 43 0.300 None 1.000 1 2012 2012
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.020 None 1.000 2 1984 1984
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.010 None 1.000 1 2014 2014
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 112 20 0.010 None 1.000 1 2009 2009
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.010 None 1.000 1 2006 2006
CUI: C0684337
Disease: Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Ewings sarcoma-primitive neuroectodermal tumor (PNET) 		disease Neoplasms Neoplastic Process 117 3 0.010 None 1.000 1 2014 2014
CUI: C1337011
Disease: Well Differentiated Pancreatic Endocrine Tumor
Well Differentiated Pancreatic Endocrine Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 117 3 0.010 None 1.000 1 2014 2014
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.010 None 1.000 1 2018 2018
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.300 None 1.000 1 2002 2002
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		disease Neoplasms; Immune System Diseases Neoplastic Process 142 8 0.010 None 1.000 1 2017 2017
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.020 None 1.000 2 2004 2013
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.020 None 1.000 2 2004 2013
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.300 None 1.000 1 2002 2002
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.010 None 1.000 1 1984 1984
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.300 None 1.000 1 2002 2002
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		disease Neoplasms Neoplastic Process 184 6 0.010 None 1.000 1 2014 2014
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.010 None 1.000 1 2009 2009