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: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		4 0 4 0.21 0 0
CUI: C0546966
Disease: Monilethrix
Monilethrix 		5 0 4 0.20 0 0
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 4 0.20 0 0
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		30 0 8 0.20 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis 		8 0 4 0.17 0 0
CUI: C1862862
Disease: Patchy alopecia
Patchy alopecia 		8 0 4 0.17 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 4 0.16 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 0.16 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 0.16 0 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 3 0.16 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 0 6 0.15 0 0
CUI: C4024867
Disease: Perifollicular hyperkeratosis
Perifollicular hyperkeratosis 		4 0 3 0.15 0 0
CUI: C1721007
Disease: Pachyonychia Congenita, Type 2 (disorder)
Pachyonychia Congenita, Type 2 (disorder) 		5 13 3 0.14 1 6.7E-02
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 3 0.14 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 3 0.14 0 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 3 0.13 0 0
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 3 0.13 0 0
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		17 0 4 0.12 0 0
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		8 0 3 0.12 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 0 4 0.12 0 0
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color 		8 0 3 0.12 0 0
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		19 0 4 0.12 0 0
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		39 0 6 0.12 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		20 0 4 0.11 0 0
CUI: C0022579
Disease: Keratoderma
Keratoderma 		24 0 4 0.10 0 0