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: C1856953
Disease: Palmar hyperhidrosis
Palmar hyperhidrosis 		5 0 5 0.83 0 0
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		5 2 5 0.83 2 5.7E-02
CUI: C0079297
Disease: Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Progressiva 		4 0 4 0.67 0 0
CUI: C0478085
Disease: Other epidermolysis bullosa
Other epidermolysis bullosa 		4 0 4 0.67 0 0
CUI: C2673610
Disease: JEB-I
JEB-I 		4 0 4 0.67 0 0
CUI: C2673609
Disease: Epidermolysis bullosa inversa dystrophica
Epidermolysis bullosa inversa dystrophica 		5 0 4 0.57 0 0
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		6 197 4 0.50 9 4.0E-02
CUI: C4021730
Disease: Junctional split
Junctional split 		6 0 4 0.50 0 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		11 0 5 0.42 0 0
CUI: C4024942
Disease: Late-onset muscular dystrophy
Late-onset muscular dystrophy 		8 0 4 0.40 0 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		12 0 5 0.38 0 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		13 0 5 0.36 0 0
CUI: C2673597
Disease: Congenital localized absence of skin
Congenital localized absence of skin 		6 0 3 0.33 0 0
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		6 0 3 0.33 0 0
CUI: C0266159
Disease: Pyloric Atresia
Pyloric Atresia 		7 0 3 0.30 0 0
CUI: C1969236
Disease: Mitten deformity
Mitten deformity 		7 0 3 0.30 0 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		7 0 3 0.30 0 0
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		16 9 5 0.29 6 0.16
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		4 42 2 0.25 1 1.3E-02
CUI: C0345996
Disease: Milium Cyst
Milium Cyst 		20 0 5 0.24 0 0
CUI: C1274224
Disease: Inherited epidermolysis bullosa
Inherited epidermolysis bullosa 		5 0 2 0.22 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis 		11 0 3 0.21 0 0
CUI: C0030578
Disease: Paronychia Inflammation
Paronychia Inflammation 		11 0 3 0.21 0 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		23 0 5 0.21 0 0
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		7 17 2 0.18 1 2.0E-02