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: C1969236
Disease: Mitten deformity
Mitten deformity 		7 0 5 0.24 0 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		13 0 6 0.23 0 0
CUI: C1844555
Disease: Absent toenail
Absent toenail 		11 0 5 0.20 0 0
CUI: C2673597
Disease: Congenital localized absence of skin
Congenital localized absence of skin 		6 0 4 0.19 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 6 0.19 0 0
CUI: C4024942
Disease: Late-onset muscular dystrophy
Late-onset muscular dystrophy 		8 0 4 0.17 0 0
CUI: C2678480
Disease: Chromosome 22q11.2 Deletion Syndrome, Distal
Chromosome 22q11.2 Deletion Syndrome, Distal 		3 0 3 0.16 0 0
CUI: C0079297
Disease: Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Progressiva 		4 0 3 0.15 0 0
CUI: C0478085
Disease: Other epidermolysis bullosa
Other epidermolysis bullosa 		4 0 3 0.15 0 0
CUI: C1844831
Disease: Cleft Palate with Ankyloglossia
Cleft Palate with Ankyloglossia 		4 0 3 0.15 0 0
CUI: C2673610
Disease: JEB-I
JEB-I 		4 0 3 0.15 0 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		12 0 4 0.15 0 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst 		20 0 5 0.15 0 0
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		20 0 5 0.15 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: C0013911
Disease: Emaciation
Emaciation 		6 0 3 0.14 0 0
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		6 0 3 0.14 0 0
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		6 0 3 0.14 0 0
CUI: C4021730
Disease: Junctional split
Junctional split 		6 0 3 0.14 0 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		23 0 5 0.14 0 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		7 0 3 0.13 0 0
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		16 0 4 0.13 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		8 0 3 0.12 0 0