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: C3150975
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 		1 0 1 1.00 0 0
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation 		6 1 1 0.17 1 0.11
CUI: C1836737
Disease: White eyebrow
White eyebrow 		7 0 1 0.14 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		7 0 1 0.14 0 0
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE 		7 0 1 0.14 0 0
CUI: C1836736
Disease: White eyelashes
White eyelashes 		8 0 1 0.12 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		9 9 1 0.11 1 5.9E-02
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		9 0 1 0.11 0 0
CUI: C0020440
Disease: Hypercapnia
Hypercapnia 		11 0 1 9.1E-02 0 0
CUI: C0344312
Disease: White forelock
White forelock 		12 1 1 8.3E-02 1 0.11
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		12 0 1 8.3E-02 0 0
CUI: C1257840
Disease: Aganglionosis, Rectosigmoid Colon
Aganglionosis, Rectosigmoid Colon 		15 0 1 6.7E-02 0 0
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		16 0 1 6.2E-02 0 0
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		17 10 1 5.9E-02 1 5.6E-02
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		18 0 1 5.6E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		19 0 1 5.3E-02 0 0
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		21 0 1 4.8E-02 0 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		26 0 1 3.8E-02 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 1 3.6E-02 0 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 0 1 3.6E-02 0 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		29 0 1 3.4E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 1 3.3E-02 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 1 3.0E-02 0 0
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		36 0 1 2.8E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 2.2E-02 0 0