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: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
59 0 20 0.15 0 0
CUI: C1386091
Disease: Acromicria
Acromicria
13 0 13 0.14 0 0
CUI: C0013592
Disease: Ectropion
Ectropion
50 0 17 0.14 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
137 0 27 0.13 0 0
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome
12 0 12 0.13 0 0
Defective DNA repair after ultraviolet radiation damage
12 0 12 0.13 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation
23 0 13 0.13 0 0
CUI: C1857632
Disease: Narrow palm
Narrow palm
17 0 12 0.12 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma
20 0 12 0.12 0 0
CUI: C0151908
Disease: Dry skin
Dry skin
159 0 27 0.12 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
21 0 12 0.12 0 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal
21 0 12 0.12 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment
22 0 12 0.12 0 0
CUI: C0016689
Disease: Freckles
Freckles
45 0 14 0.11 0 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea
37 0 13 0.11 0 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge
47 0 14 0.11 0 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation
28 0 12 0.11 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure
40 0 13 0.11 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
30 0 12 0.11 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora
30 0 12 0.11 0 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
41 0 13 0.11 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
57 0 14 0.10 0 0
CUI: C0014390
Disease: Entropion
Entropion
18 0 10 0.10 0 0
Generalized tonic-clonic seizures with focal onset
23 0 10 9.6E-02 0 0
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
60 0 13 9.4E-02 0 0