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: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		17 2 8 0.28 1 0.33
CUI: C1969236
Disease: Mitten deformity
Mitten deformity 		7 0 5 0.23 0 0
CUI: C2673597
Disease: Congenital localized absence of skin
Congenital localized absence of skin 		6 0 4 0.18 0 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		13 0 5 0.18 0 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst 		20 0 6 0.18 0 0
CUI: C4024942
Disease: Late-onset muscular dystrophy
Late-onset muscular dystrophy 		8 0 4 0.17 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 5 0.16 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 13 0.16 0 0
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		47 0 9 0.16 0 0
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		3 0 3 0.15 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis 		11 0 4 0.15 0 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		11 0 4 0.15 0 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		19 0 5 0.15 0 0
CUI: C0079297
Disease: Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Progressiva 		4 0 3 0.14 0 0
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail 		4 0 3 0.14 0 0
CUI: C0478085
Disease: Other epidermolysis bullosa
Other epidermolysis bullosa 		4 0 3 0.14 0 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		12 0 4 0.14 0 0
CUI: C2673610
Disease: JEB-I
JEB-I 		4 0 3 0.14 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 5 0.14 0 0
CUI: C1856953
Disease: Palmar hyperhidrosis
Palmar hyperhidrosis 		5 0 3 0.14 0 0
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		5 0 3 0.14 0 0
CUI: C2673609
Disease: Epidermolysis bullosa inversa dystrophica
Epidermolysis bullosa inversa dystrophica 		5 0 3 0.14 0 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		23 0 5 0.13 0 0
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		6 0 3 0.13 0 0
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		6 0 3 0.13 0 0