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: C1859133
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 		4 0 2 0.20 0 0
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		16 0 3 0.14 0 0
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		9 0 2 0.13 0 0
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		36 0 5 0.13 0 0
CUI: C0020623
Disease: Hypolipoproteinemias
Hypolipoproteinemias 		1 0 1 0.12 0 0
CUI: C0035326
Disease: Retinal vascular occlusion
Retinal vascular occlusion 		1 0 1 0.12 0 0
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 0.12 0 0
CUI: C0162824
Disease: Dermatitis, Photoallergic
Dermatitis, Photoallergic 		1 0 1 0.12 0 0
CUI: C0234918
Disease: Morbilliform rash
Morbilliform rash 		1 0 1 0.12 0 0
CUI: C0276044
Disease: Contagious bovine pleuropneumonia
Contagious bovine pleuropneumonia 		1 0 1 0.12 0 0
CUI: C0339495
Disease: Cilioretinal artery occlusion
Cilioretinal artery occlusion 		1 0 1 0.12 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 0.12 0 0
CUI: C1275127
Disease: Hyper-IgD periodic fever syndrome (HIDS)
Hyper-IgD periodic fever syndrome (HIDS) 		1 0 1 0.12 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 0 1 0.12 0 0
CUI: C1442958
Disease: Actinic porokeratosis
Actinic porokeratosis 		1 0 1 0.12 0 0
CUI: C1720772
Disease: Hypoprebetalipoproteinemia
Hypoprebetalipoproteinemia 		1 0 1 0.12 0 0
CUI: C1835362
Disease: Lp(A) Deficiency, Congenital
Lp(A) Deficiency, Congenital 		1 0 1 0.12 0 0
CUI: C1835875
Disease: Normocytic hypoplastic anemia
Normocytic hypoplastic anemia 		1 0 1 0.12 0 0
CUI: C1835881
Disease: Fluctuating hepatomegaly
Fluctuating hepatomegaly 		1 0 1 0.12 0 0
CUI: C1835882
Disease: Fluctuating splenomegaly
Fluctuating splenomegaly 		1 0 1 0.12 0 0
CUI: C1838612
Disease: Rhizomelic chondrodysplasia punctata, type 3
Rhizomelic chondrodysplasia punctata, type 3 		1 0 1 0.12 0 0
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 0 1 0.12 0 0
CUI: C1857242
Disease: Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 2 		1 0 1 0.12 0 0
CUI: C1857243
Disease: Stippled calcification proximal humeral epiphyses
Stippled calcification proximal humeral epiphyses 		1 0 1 0.12 0 0
CUI: C1859135
Disease: Calcific stippling of infantile cartilaginous skeleton
Calcific stippling of infantile cartilaginous skeleton 		1 0 1 0.12 0 0