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: C0023654
Disease: Lichenification and lichen simplex chronicus
Lichenification and lichen simplex chronicus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0023653
Disease: Lichenification
Lichenification 		phenotype Skin and Connective Tissue Diseases Pathologic Function 12 0.100 None 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0
CUI: C4732740
Disease: Acral ulceration
Acral ulceration 		phenotype Finding 8 0.100 None 0
CUI: C0022568
Disease: Keratitis
Keratitis 		disease Eye Diseases Disease or Syndrome 156 10 0.100 None 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		phenotype Behavior and Behavior Mechanisms Finding 142 1 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 15 0.100 None 0
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color 		phenotype Finding 11 0.100 None 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
CUI: C4024916
Disease: Decreased number of small peripheral myelinated nerve fibers
Decreased number of small peripheral myelinated nerve fibers 		phenotype Finding 2 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease Disease or Syndrome 77 1 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 0
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 2 0.510 None 1.000 1 2006 2006
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.310 None 1.000 1 1 2006 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.300 None 1.000 1 2004 2004
CUI: C0038870
Disease: Neuralgia, Supraorbital
Neuralgia, Supraorbital 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2008 2008
CUI: C0751371
Disease: Neuralgia, Ilioinguinal
Neuralgia, Ilioinguinal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 1 2008 2008
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 1.000 1 2014 2014
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.300 None 1.000 1 2004 2004
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 76 0.300 None 1.000 1 2004 2004
CUI: C0036358
Disease: Schizophreniform Disorders
Schizophreniform Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 20 1 0.300 None 1.000 1 2004 2004