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: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 46 7 0.720 None 1.000 2 1 2015 2017
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: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 12 3 0.420 strong 1.000 2 1 2015 2017
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 31 0.400 None 1.000 1 1 2016 2016
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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.110 None 1.000 1 2017 2017
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.110 None 1.000 1 2007 2007
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.110 None < 0.001 1 2015 2015
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		disease Congenital Abnormality 14 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype Finding 87 1 0.100 None 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype Finding 98 4 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: C0266399
Disease: Infantile uterus
Infantile uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0