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: C0265222
Disease: Royer Syndrome
Royer Syndrome 		12 0 12 0.43 0 0
CUI: C1386091
Disease: Acromicria
Acromicria 		13 0 12 0.41 0 0
CUI: C1857632
Disease: Narrow palm
Narrow palm 		17 0 12 0.36 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		23 0 13 0.34 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		21 0 12 0.32 0 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		21 0 12 0.32 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 0 12 0.32 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 12 0.26 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 12 0.26 0 0
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		37 0 12 0.23 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		40 0 12 0.21 0 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		41 0 12 0.21 0 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 0 12 0.19 0 0
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		60 0 13 0.17 0 0
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		7 0 5 0.17 0 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		57 0 12 0.16 0 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		65 0 13 0.16 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 6 0.16 0 0
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		11 0 5 0.15 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 15 0.14 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 15 0.13 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 13 0.12 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		19 0 5 0.12 0 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		29 0 6 0.12 0 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		148 0 18 0.11 0 0