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: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME
disease Disease or Syndrome 1 7 0.600 None 1.000 2 7 2016 2016
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.330 None 1.000 4 2012 2018
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.300 None 1.000 1 2012 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.300 None 1.000 1 2019 2019
Child Development Disorders, Specific
disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2019 2019
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations
disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2019 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.300 None 1.000 1 2011 2011
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.300 None 1.000 1 2019 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2019 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.110 None 1.000 1 2019 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 9 2 2010 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 9 2 2010 2017
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0