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: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		disease Disease or Syndrome 1 39 0.600 None 1.000 13 39 2012 2017
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		phenotype Finding 1 9 0.100 None 1.000 1 9 2015 2015
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		phenotype Finding 1 9 0.100 None 0 9
CUI: C4021041
Disease: Maternal fever in pregnancy
Maternal fever in pregnancy 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4022561
Disease: Maternal first trimester fever
Maternal first trimester fever 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4022733
Disease: Widened cerebral subarachnoid space
Widened cerebral subarachnoid space 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C3532933
Disease: Moderate expressive language delay
Moderate expressive language delay 		disease Mental or Behavioral Dysfunction 2 2 0.100 None 0 1
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 3 0.100 None 0 1
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		phenotype Anatomical Abnormality 3 4 0.100 None 0 1
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 4 11 0.100 None 0 1
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		disease Mental or Behavioral Dysfunction 4 4 0.100 None 0 1
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
Abnormality of the cerebral ventricles 		disease Anatomical Abnormality 4 5 0.100 None 0 1
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		disease Congenital Abnormality 5 3 0.100 None 0 1
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes 		disease Congenital Abnormality 5 1 0.100 None 0 1
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		phenotype Finding 8 1 0.100 None 0 1
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		disease Mental Disorders Mental or Behavioral Dysfunction 8 5 0.100 None 0
CUI: C0948807
Disease: Hepatic impairment
Hepatic impairment 		phenotype Disease or Syndrome 9 0.010 None 1.000 1 2016 2016
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		disease Mental or Behavioral Dysfunction 9 5 0.100 None 0 1
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 9 3 0.100 None 0 1
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		phenotype Finding 9 5 0.100 None 0 1
CUI: C0679309
Disease: physical symptom
physical symptom 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2009 2009
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		disease Anatomical Abnormality 11 8 0.100 None 0 1
CUI: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 0.010 None 1.000 1 2008 2008
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 20 0.100 None 0 1
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		phenotype Finding 18 11 0.100 None 0 1