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: C1261251
Disease: Agenesis of vagina
Agenesis of vagina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 1 0.010 None 1.000 1 1 1996 1996
CUI: C0268152
Disease: Classical galactosemia, homozygous Duarte-type
Classical galactosemia, homozygous Duarte-type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4703627
Disease: Increased level of galactitol in plasma
Increased level of galactitol in plasma 		phenotype Finding 1 0.100 None 0
CUI: C4703628
Disease: Increased level of galactitol in urine
Increased level of galactitol in urine 		phenotype Finding 1 0.100 None 0
CUI: C4703629
Disease: Increased level of galactonate in red blood cells
Increased level of galactonate in red blood cells 		phenotype Finding 1 0.100 None 0
CUI: C4703630
Disease: Increased level of galactitol in red blood cells
Increased level of galactitol in red blood cells 		phenotype Finding 1 0.100 None 0
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 16 0.310 None 1.000 2 2001 2013
CUI: C4021643
Disease: Impairment of galactose metabolism
Impairment of galactose metabolism 		phenotype Finding 3 1 0.100 None 0
CUI: C0265428
Disease: Chromosome 9, partial trisomy 9p
Chromosome 9, partial trisomy 9p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 0.010 None 1.000 1 1984 1984
CUI: C0268157
Disease: Galactosuria
Galactosuria 		phenotype Disease or Syndrome 4 0.100 None 0
CUI: C4023071
Disease: Hypergalactosemia
Hypergalactosemia 		phenotype Finding 4 0.100 None 0
CUI: C0152259
Disease: Cataract secondary to ocular disorder
Cataract secondary to ocular disorder 		disease Eye Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1980 1980
CUI: C4721766
Disease: Unspecified secondary cataract
Unspecified secondary cataract 		disease Eye Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1980 1980
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 22 0.300 None 1.000 1 2013 2013
CUI: C0154971
Disease: Presenile cataract
Presenile cataract 		disease Eye Diseases Disease or Syndrome 8 2 0.030 None 1.000 3 1980 2019
CUI: C1969073
Disease: Hyperchloremic metabolic acidosis
Hyperchloremic metabolic acidosis 		phenotype Disease or Syndrome 8 0.100 None 0
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary 		disease Anatomical Abnormality 8 1 0.100 None 0
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.010 None 1.000 1 2009 2009
CUI: C4303510
Disease: Idiopathic premature ovarian failure
Idiopathic premature ovarian failure 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2 2005 2005
CUI: C0154208
Disease: Disorder of endocrine ovary
Disorder of endocrine ovary 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 22 1 0.010 None < 0.001 1 1993 1993
CUI: C1306068
Disease: After-cataract
After-cataract 		disease Eye Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 1980 1980
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		phenotype Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding 23 0.100 None 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		phenotype Finding 23 3 0.100 None 0
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
Rokitansky Kuster Hauser syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 27 3 0.020 None 1.000 2 1 1996 2004
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