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: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 6 0.12 0 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		20 0 7 0.12 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 6 0.12 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 6 0.12 0 0
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		12 0 6 0.12 0 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		13 0 6 0.12 0 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 7 0.11 0 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		14 0 6 0.11 0 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 0 7 0.11 0 0
CUI: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital 		5 0 5 0.11 0 0
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		16 0 6 0.11 0 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 0 6 0.11 0 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 6 0.11 0 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		60 0 10 0.11 0 0
CUI: C1862862
Disease: Patchy alopecia
Patchy alopecia 		8 0 5 0.10 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 8 0.10 0 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		21 0 6 1.0E-01 0 0
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		33 0 7 9.9E-02 0 0
CUI: C0423820
Disease: Ridged nails
Ridged nails 		22 0 6 9.8E-02 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		23 0 6 9.7E-02 0 0
CUI: C4025797
Disease: Abnormality of prenatal development or birth
Abnormality of prenatal development or birth 		23 0 6 9.7E-02 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		137 0 16 9.6E-02 0 0
CUI: C0263491
Disease: Pili Torti
Pili Torti 		12 0 5 9.6E-02 0 0
CUI: C0277960
Disease: Dry hair
Dry hair 		12 0 5 9.6E-02 0 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		12 0 5 9.6E-02 0 0