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: C4479534
Disease: TOWNES-BROCKS SYNDROME 2
TOWNES-BROCKS SYNDROME 2
disease Disease or Syndrome 1 0.300 limited 1.000 3 2009 2017
CUI: C0266501
Disease: Spina bifida of cervical region
Spina bifida of cervical region
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.100 None 0
CUI: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe
phenotype Finding 2 0.100 None 0
CUI: C2931507
Disease: Sternal cleft
Sternal cleft
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.100 None 0
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0265246
Disease: Townes syndrome
Townes syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 9 0.510 None 1.000 1 1 2017 2017
CUI: C0266345
Disease: Congenital urethral valve
Congenital urethral valve
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 5 0.100 None 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus
phenotype Finding 6 0.100 None 0
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe
disease Congenital Abnormality 8 2 0.100 None 0
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia
phenotype Finding 10 0.100 None 0
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
disease Finding 11 30 0.300 None 1.000 1 1 2012 2012
CUI: C0037205
Disease: Sirenomelia
Sirenomelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 0.100 None 0
Partial duplication of thumb phalanx
disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx
disease Anatomical Abnormality 17 0.100 None 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 27 6 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
phenotype Finding 28 0.100 None 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers
phenotype Finding 31 0.100 None 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 9 0.300 None 1.000 1 2012 2012
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 35 1 0.100 None 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.300 None 1.000 1 2012 2012
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
disease Finding 40 0.100 None 0