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: C4225421
Disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2015 2015
CUI: C4746985
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 		disease Disease or Syndrome 1 1 0.500 strong 1.000 1 1 2016 2016
CUI: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks 		phenotype Finding 2 1 0.100 None 0
CUI: C4023440
Disease: Cleft earlobe
Cleft earlobe 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4024888
Disease: Asymmetric, linear skin defects
Asymmetric, linear skin defects 		phenotype Finding 3 0.100 None 0
CUI: C0266210
Disease: Congenital anomaly of rectum
Congenital anomaly of rectum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.100 None 0
CUI: C0235812
Disease: Vitritis
Vitritis 		disease Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 1 0.100 None 0
CUI: C4551490
Disease: Ovotestis
Ovotestis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.100 None 0
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		phenotype Finding 10 1 0.100 None 0
CUI: C0221182
Disease: Chordee
Chordee 		disease Male Urogenital Diseases Congenital Abnormality 11 1 0.100 None 0
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 12 3 0.420 strong 1.000 2 1 2015 2017
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		disease Cardiovascular Diseases Disease or Syndrome 13 4 0.100 None 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		disease Congenital Abnormality 14 0.100 None 0
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 23 0.010 None 1.000 1 2016 2016
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 16 1 0.100 None 0
CUI: C0265886
Disease: Overriding aorta
Overriding aorta 		disease Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 17 0.100 None 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		disease Anatomical Abnormality 21 0.100 None 0
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 22 11 0.310 moderate 1.000 1 2017 2017
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 27 10 0.100 None 0