Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex
8 0 2 0.13 0 0
CUI: C0262665
Disease: Abnormal vocal cord morphology
Abnormal vocal cord morphology
1 2 1 0.11 2 0.50
3-Phosphoglycerate dehydrogenase deficiency
1 0 1 0.11 0 0
CUI: C1321325
Disease: Elliptical nystagmus
Elliptical nystagmus
1 0 1 0.11 0 0
CUI: C1838654
Disease: Nivelon Nivelon Mabille syndrome
Nivelon Nivelon Mabille syndrome
1 0 1 0.11 0 0
Hypodysplasia of the corpus callosum
1 0 1 0.11 0 0
Yellow subcutaneous tissue covered by thin, scaly skin
1 0 1 0.11 0 0
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
1 0 1 0.11 0 0
CUI: C3552528
Disease: Generalized ichthyosis
Generalized ichthyosis
1 0 1 0.11 0 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
1 0 1 0.11 0 0
CUI: C3887784
Disease: Decreased urine output
Decreased urine output
1 2 1 0.11 2 0.50
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12
1 0 1 0.11 0 0
CUI: C4015704
Disease: Ureteral hypoplasia
Ureteral hypoplasia
1 0 1 0.11 0 0
Intrauterine growth restriction (IUGR)
1 0 1 0.11 0 0
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
1 0 1 0.11 0 0
CUI: C4748873
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
PONTOCEREBELLAR HYPOPLASIA, TYPE 12
1 0 1 0.11 0 0
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism
2 0 1 1.0E-01 0 0
CUI: C1839765
Disease: Triangular nasal tip
Triangular nasal tip
2 0 1 1.0E-01 0 0
LEBER CONGENITAL AMAUROSIS 6 (disorder)
2 0 1 1.0E-01 0 0
Phosphoserine Aminotransferase Deficiency
2 0 1 1.0E-01 0 0
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13
2 0 1 1.0E-01 0 0
CUI: C2713583
Disease: Congenital Tracheobronchomegaly
Congenital Tracheobronchomegaly
2 0 1 1.0E-01 0 0
Fatty Acid Hydroxylase-Associated Neurodegeneration
2 0 1 1.0E-01 0 0
EEG with persistent abnormal rhythmic activity
2 2 1 1.0E-01 2 0.50
CUI: C4022973
Disease: Hypoglycinemia
Hypoglycinemia
2 0 1 1.0E-01 0 0