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 0.83 0 0
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		36 11 15 0.38 2 8.0E-02
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		7 0 3 0.14 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		9 0 3 0.12 0 0
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		49 0 7 0.12 0 0
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		11 0 3 0.12 0 0
CUI: C0345240
Disease: Total intestinal aganglionosis
Total intestinal aganglionosis 		2 0 2 0.11 0 0
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		12 0 3 0.11 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 3 9.7E-02 0 0
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		5 0 2 9.5E-02 0 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		29 0 4 9.3E-02 0 0
CUI: C0546275
Disease: Hypoganglionosis
Hypoganglionosis 		6 0 2 9.1E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		19 0 3 8.8E-02 0 0
CUI: C1836737
Disease: White eyebrow
White eyebrow 		7 0 2 8.7E-02 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		7 0 2 8.7E-02 0 0
CUI: C0267373
Disease: Intestinal hemorrhage NOS
Intestinal hemorrhage NOS 		8 0 2 8.3E-02 0 0
CUI: C0345244
Disease: Neuronal intestinal dysplasia
Neuronal intestinal dysplasia 		8 0 2 8.3E-02 0 0
CUI: C1836736
Disease: White eyelashes
White eyelashes 		8 0 2 8.3E-02 0 0
CUI: C1857175
Disease: Episodic hypertension
Episodic hypertension 		8 0 2 8.3E-02 0 0
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		21 0 3 8.3E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 7 8.2E-02 0 0
CUI: C0022681
Disease: Medullary sponge kidney
Medullary sponge kidney 		9 0 2 8.0E-02 0 0
CUI: C0221154
Disease: Paroxysmal hypertension
Paroxysmal hypertension 		9 0 2 8.0E-02 0 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		9 0 2 8.0E-02 0 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		26 0 3 7.3E-02 0 0