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: C0751708
Disease: Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, General
2 0 2 1.00 0 0
CUI: C0751710
Disease: Peroxisomal Dysfunction, Single
Peroxisomal Dysfunction, Single
2 0 2 1.00 0 0
CUI: C0282526
Disease: Hyperpipecolic Acidemia
Hyperpipecolic Acidemia
3 0 2 0.67 0 0
CUI: C0585006
Disease: Deficiency of enoyl-CoA hydratase
Deficiency of enoyl-CoA hydratase
1 0 1 0.50 0 0
CUI: C1533628
Disease: Pseudo-Zellweger syndrome
Pseudo-Zellweger syndrome
1 0 1 0.50 0 0
Bifunctional peroxisomal enzyme deficiency
2 0 1 0.33 0 0
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1
2 0 1 0.33 0 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling
3 0 1 0.25 0 0
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
4 0 1 0.20 0 0
Alpha-Methylacyl-CoA Racemase Deficiency
5 0 1 0.17 0 0
CUI: C0268634
Disease: Disorder of fatty acid metabolism
Disorder of fatty acid metabolism
6 0 1 0.14 0 0
CUI: C0342510
Disease: Ovarian dysgenesis
Ovarian dysgenesis
6 0 1 0.14 0 0
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures
6 0 1 0.14 0 0
CUI: C1285291
Disease: Fetal ascites
Fetal ascites
6 0 1 0.14 0 0
CUI: C1527306
Disease: spasmus nutans
spasmus nutans
6 0 1 0.14 0 0
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal
18 0 2 0.11 0 0
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms
8 0 1 0.11 0 0
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms
8 0 1 0.11 0 0
CUI: C0546878
Disease: Nodding spasm
Nodding spasm
8 0 1 0.11 0 0
CUI: C0034960
Disease: Refsum Disease
Refsum Disease
9 0 1 1.0E-01 0 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia
11 0 1 8.3E-02 0 0
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements
11 0 1 8.3E-02 0 0
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders
25 0 2 8.0E-02 0 0
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome
13 0 1 7.1E-02 0 0
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
14 0 1 6.7E-02 0 0