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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0 1
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype Nervous System Diseases Finding 13 7 0.100 None 0 1
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		disease Anatomical Abnormality 9 1 0.100 None 0 1
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0 1
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 2019 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2020 2020
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 4 0.900 None 0.977 44 4 2009 2019
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		disease Disease or Syndrome 2 1 0.300 strong 1.000 1 2012 2012
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		disease Disease or Syndrome 1 38 0.610 strong 1.000 14 38 2004 2017
CUI: C0178417
Disease: Anhedonia
Anhedonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 7 0.300 None 1.000 1 2011 2011
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.110 None 1.000 1 1 2018 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.180 None 1.000 8 2 2012 2018
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0 1
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.100 None 0 1
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 24 20 0.030 None 1.000 3 2017 2018
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.030 None 1.000 3 2017 2018
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Juvenile Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2004 2004
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 34 3 0.300 None 1.000 1 2004 2004
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 33 1 0.300 None 1.000 1 2004 2004
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.520 None 0.500 2 1 1998 2001