Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
4 0 2 0.50 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
1 0 1 0.50 0 0
CUI: C4073207
Disease: Bilateral facial muscle weakness
Bilateral facial muscle weakness
1 0 1 0.50 0 0
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
1 0 1 0.50 0 0
CUI: C4477031
Disease: Axial muscle atrophy
Axial muscle atrophy
1 0 1 0.50 0 0
Epidermolysis bullosa simplex, Ogna type
2 0 1 0.33 0 0
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
2 0 1 0.33 0 0
Skin fragility with non-scarring blistering
2 0 1 0.33 0 0
Epidermolysis Bullosa Simplex With Pyloric Atresia
2 0 1 0.33 0 0
CUI: C4024679
Disease: Onychogryposis of toenails
Onychogryposis of toenails
2 0 1 0.33 0 0
Proximal upper limb muscle hypertrophy
2 0 1 0.33 0 0
Epidermolysis Bullosa Simplex Kobner
7 0 2 0.29 0 0
Epidermolysis bullosa with pyloric atresia
7 0 2 0.29 0 0
CUI: C0001202
Disease: Acrokeratosis
Acrokeratosis
3 0 1 0.25 0 0
CUI: C0259799
Disease: Punctate keratitis
Punctate keratitis
3 0 1 0.25 0 0
CUI: C1562761
Disease: Punctate epithelial keratitis
Punctate epithelial keratitis
3 0 1 0.25 0 0
CUI: C4025699
Disease: Abnormality of the stomach
Abnormality of the stomach
3 0 1 0.25 0 0
Epidermolysis Bullosa Herpetiformis Dowling-Meara
4 0 1 0.20 0 0
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
4 0 1 0.20 0 0
CUI: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder
4 0 1 0.20 0 0
Epidermolysis bullosa simplex with mottled pigmentation
5 0 1 0.17 0 0
Elevated maternal serum alpha-fetoprotein
5 0 1 0.17 0 0
CUI: C1274224
Disease: Inherited epidermolysis bullosa
Inherited epidermolysis bullosa
5 0 1 0.17 0 0
CUI: C0393934
Disease: Slow channel syndrome
Slow channel syndrome
6 0 1 0.14 0 0
CUI: C4021730
Disease: Junctional split
Junctional split
6 0 1 0.14 0 0