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: C1257840
Disease: Aganglionosis, Rectosigmoid Colon
Aganglionosis, Rectosigmoid Colon 		15 0 15 0.42 0 0
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		18 16 15 0.38 2 8.0E-02
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		9 0 5 0.12 0 0
CUI: C0344312
Disease: White forelock
White forelock 		12 0 5 0.12 0 0
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		12 11 5 0.12 1 4.8E-02
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		17 0 5 0.10 0 0
CUI: C1836737
Disease: White eyebrow
White eyebrow 		7 0 4 0.10 0 0
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		7 0 4 0.10 0 0
CUI: C1836736
Disease: White eyelashes
White eyelashes 		8 0 4 1.0E-01 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		9 0 4 9.8E-02 0 0
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		21 0 5 9.6E-02 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 6 9.5E-02 0 0
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		11 0 4 9.3E-02 0 0
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting 		27 0 5 8.6E-02 0 0
CUI: C0878627
Disease: Mucosal neuromas
Mucosal neuromas 		3 0 3 8.3E-02 0 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		29 0 5 8.3E-02 0 0
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		16 0 4 8.3E-02 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 4 8.3E-02 0 0
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		32 0 5 7.9E-02 0 0
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		5 0 3 7.9E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		19 0 4 7.8E-02 0 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		384 162 30 7.7E-02 8 4.8E-02
CUI: C0546275
Disease: Hypoganglionosis
Hypoganglionosis 		6 0 3 7.7E-02 0 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		49 0 6 7.6E-02 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		7 0 3 7.5E-02 0 0