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: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		21 8 10 0.37 2 3.8E-02
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		9 0 6 0.32 0 0
CUI: C1836737
Disease: White eyebrow
White eyebrow 		7 0 5 0.28 0 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		7 26 5 0.28 1 1.4E-02
CUI: C1836736
Disease: White eyelashes
White eyelashes 		8 0 5 0.26 0 0
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		4 5 4 0.25 2 4.1E-02
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		17 10 6 0.22 1 1.8E-02
CUI: C0344312
Disease: White forelock
White forelock 		12 0 5 0.22 0 0
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		12 0 5 0.22 0 0
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		3 0 3 0.19 0 0
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		14 0 4 0.15 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		7 0 3 0.15 0 0
CUI: C0345244
Disease: Neuronal intestinal dysplasia
Neuronal intestinal dysplasia 		8 0 3 0.14 0 0
CUI: C0080024
Disease: Piebaldism
Piebaldism 		33 0 6 0.14 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		9 0 3 0.14 0 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 0 4 0.13 0 0
CUI: C0345240
Disease: Total intestinal aganglionosis
Total intestinal aganglionosis 		2 0 2 0.12 0 0
CUI: C0348932
Disease: Other specified diabetes mellitus with unspecified complications
Other specified diabetes mellitus with unspecified complications 		2 0 2 0.12 0 0
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		3 0 2 0.12 0 0
CUI: C4025761
Disease: Abnormality of the integument
Abnormality of the integument 		3 0 2 0.12 0 0
CUI: C4293672
Disease: Abnormality of mesentery morphology
Abnormality of mesentery morphology 		3 0 2 0.12 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 5 0.11 0 0
CUI: C0271972
Disease: Thiamine-responsive megaloblastic anemia
Thiamine-responsive megaloblastic anemia 		4 0 2 0.11 0 0
CUI: C3826233
Disease: Hearing impaired children
Hearing impaired children 		4 0 2 0.11 0 0
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		5 0 2 0.11 0 0