Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Epidermolysis bullosa simplex, Ogna type
2 0 2 0.50 0 0
Elevated maternal serum alpha-fetoprotein
5 0 3 0.50 0 0
Epidermolysis Bullosa Simplex With Pyloric Atresia
2 0 2 0.50 0 0
CUI: C4021730
Disease: Junctional split
Junctional split
6 0 3 0.43 0 0
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia
6 0 3 0.43 0 0
CUI: C4025699
Disease: Abnormality of the stomach
Abnormality of the stomach
3 0 2 0.40 0 0
CUI: C0266159
Disease: Pyloric Atresia
Pyloric Atresia
7 0 3 0.38 0 0
CUI: C1844738
Disease: Axillary pterygium
Axillary pterygium
7 0 3 0.38 0 0
Epidermolysis bullosa with pyloric atresia
7 0 3 0.38 0 0
CUI: C1274224
Disease: Inherited epidermolysis bullosa
Inherited epidermolysis bullosa
5 0 2 0.29 0 0
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease
6 0 2 0.25 0 0
Cryptophthalmos, Unilateral or Bilateral, Isolated
1 0 1 0.25 0 0
CUI: C2315717
Disease: Cryptotia
Cryptotia
1 0 1 0.25 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
1 0 1 0.25 0 0
CUI: C4073207
Disease: Bilateral facial muscle weakness
Bilateral facial muscle weakness
1 0 1 0.25 0 0
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
1 0 1 0.25 0 0
CUI: C4305274
Disease: Isolated cryptophthalmos
Isolated cryptophthalmos
1 0 1 0.25 0 0
CUI: C4477031
Disease: Axial muscle atrophy
Axial muscle atrophy
1 0 1 0.25 0 0
CUI: C4540036
Disease: FRASER SYNDROME 2
FRASER SYNDROME 2
1 0 1 0.25 0 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters
12 0 3 0.23 0 0
Epidermolysis Bullosa Simplex Kobner
7 0 2 0.22 0 0
CUI: C0743178
Disease: Intractable diarrhea
Intractable diarrhea
13 0 3 0.21 0 0
CUI: C0406458
Disease: Diffuse alopecia
Diffuse alopecia
2 0 1 0.20 0 0
CUI: C0555970
Disease: Nasal infection
Nasal infection
2 0 1 0.20 0 0
Skin fragility with non-scarring blistering
2 0 1 0.20 0 0