Source: ALL
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: 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
CUI: C3810100
Disease: FANCONI RENOTUBULAR SYNDROME 3
FANCONI RENOTUBULAR SYNDROME 3 		1 0 1 0.50 0 0
CUI: C0751708
Disease: Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, General 		2 0 1 0.33 0 0
CUI: C0751709
Disease: Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Multiple 		2 0 1 0.33 0 0
CUI: C0751710
Disease: Peroxisomal Dysfunction, Single
Peroxisomal Dysfunction, Single 		2 0 1 0.33 0 0
CUI: C4551503
Disease: FANCONI RENOTUBULAR SYNDROME 1
FANCONI RENOTUBULAR SYNDROME 1 		2 0 1 0.33 0 0
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		2 10 1 0.33 9 0.19
CUI: C0282526
Disease: Hyperpipecolic Acidemia
Hyperpipecolic Acidemia 		3 0 1 0.25 0 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling 		3 0 1 0.25 0 0
CUI: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		4 0 1 0.20 0 0
CUI: C3280428
Disease: Alpha-Methylacyl-CoA Racemase Deficiency
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: 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: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		8 0 1 0.11 0 0
CUI: C0034960
Disease: Refsum Disease
Refsum Disease 		9 0 1 1.0E-01 0 0
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		11 0 1 8.3E-02 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