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: C4749945
Disease: Autism spectrum disorder due to AUTS2 deficiency
Autism spectrum disorder due to AUTS2 deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.030 None 1.000 3 2015 2016
CUI: C3843207
Disease: Sound sensitivity
Sound sensitivity 		phenotype Behavior and Behavior Mechanisms Finding 1 0.100 None 0
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		disease Disease or Syndrome 2 8 0.800 None 1.000 3 7 2013 2015
CUI: C0392477
Disease: Congenital flat foot
Congenital flat foot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 2 0.010 None 1.000 1 2014 2014
CUI: C2734068
Disease: Arm span
Arm span 		phenotype Finding 2 2 0.100 None 1.000 1 1 2012 2012
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 4 0.010 None 1.000 1 2014 2014
CUI: C0016873
Disease: Fused Teeth
Fused Teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 4 1 0.100 None 0 1
CUI: C1865702
Disease: Joint contracture of the 5th finger
Joint contracture of the 5th finger 		disease Finding 4 0.100 None 0
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		phenotype Finding 6 4 0.100 None 0
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		disease Mental Disorders Mental or Behavioral Dysfunction 6 4 0.100 None 0
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		disease Finding 9 3 0.300 strong 1.000 1 2013 2013
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		disease Mental or Behavioral Dysfunction 9 5 0.100 None 0 1
CUI: C0023009
Disease: Speech and language disorder
Speech and language disorder 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 11 2 0.010 None 1.000 1 2014 2014
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		disease Skin and Connective Tissue Diseases; Chemically-Induced Disorders Disease or Syndrome 11 8 0.010 None < 0.001 1 1 2017 2017
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 0.100 None 0 1
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype Finding 12 3 0.100 None 0
CUI: C1333984
Disease: Hepatosplenic T-cell lymphoma
Hepatosplenic T-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 13 0.010 None 1.000 1 2019 2019
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype Finding 13 4 0.100 None 0
CUI: C1857632
Disease: Narrow palm
Narrow palm 		phenotype Finding 17 0.100 None 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 0 1
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 26 54 0.100 None 1.000 1 1 2016 2016
CUI: C3158111
Disease: response to SSRI
response to SSRI 		phenotype Cell Function 28 53 0.100 None 1.000 1 1 2015 2015
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 30 25 0.100 None 0 1
CUI: C0026603
Disease: Motion Sickness
Motion Sickness 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 35 0.100 None 1.000 1 1 2015 2015