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: C0585006
Disease: Deficiency of enoyl-CoA hydratase
Deficiency of enoyl-CoA hydratase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C1533628
Disease: Pseudo-Zellweger syndrome
Pseudo-Zellweger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Pathologic Function 2 47 0.900 None 1.000 34 47 1989 2017
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 10 0.600 strong 1.000 12 10 1998 2017
CUI: C0751708
Disease: Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, General 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 2 1997 2006
CUI: C0751709
Disease: Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Multiple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 2 1997 2006
CUI: C0751710
Disease: Peroxisomal Dysfunction, Single
Peroxisomal Dysfunction, Single 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 2 1997 2006
CUI: C0282526
Disease: Hyperpipecolic Acidemia
Hyperpipecolic Acidemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 1.000 2 1997 2006
CUI: C1849993
Disease: Calcific stippling
Calcific stippling 		phenotype Finding 3 0.100 None 0
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 4 42 0.010 None 1.000 1 2001 2001
CUI: C3280428
Disease: Alpha-Methylacyl-CoA Racemase Deficiency
Alpha-Methylacyl-CoA Racemase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.010 None < 0.001 1 2002 2002
CUI: C0268634
Disease: Disorder of fatty acid metabolism
Disorder of fatty acid metabolism 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.200 None 1.000 5 2000 2013
CUI: C0342510
Disease: Ovarian dysgenesis
Ovarian dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 2 0.020 None 0.500 2 2010 2014
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2007 2007
CUI: C1527306
Disease: spasmus nutans
spasmus nutans 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2007 2007
CUI: C1285291
Disease: Fetal ascites
Fetal ascites 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 2 0.100 None 0
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2007 2007
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2007 2007
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease Nervous System Diseases Disease or Syndrome 8 1 0.300 None 1.000 1 2007 2007
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 14 0.010 None 1.000 1 2013 2013
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2001 2001
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		phenotype Finding 11 1 0.100 None 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 1999 1999
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality 14 11 0.630 definitive 1.000 10 1 1989 2017
CUI: C4024945
Disease: Generalized cerebral atrophy/hypoplasia
Generalized cerebral atrophy/hypoplasia 		disease Disease or Syndrome 14 2 0.100 None 0