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: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		disease Disease or Syndrome 2 5 0.800 definitive 1.000 11 5 2006 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 7 1 2006 2015
CUI: C1272348
Disease: Disorder of vitamin B12
Disorder of vitamin B12 		disease Disease or Syndrome 2 0.020 None 1.000 2 2010 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2015 2015
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 1 1 2013 2013
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		phenotype Laboratory or Test Result 4 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0268618
Disease: Cystathioninemia
Cystathioninemia 		disease Disease or Syndrome 4 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia 		phenotype Finding 5 0.100 None 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C1848579
Disease: Decreased methylmalonyl-CoA mutase activity
Decreased methylmalonyl-CoA mutase activity 		phenotype Finding 5 0.100 None 0
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		phenotype Finding 6 1 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 0.100 None 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0