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: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		16 46 10 0.37 2 3.8E-02
CUI: C1836737
Disease: White eyebrow
White eyebrow 		7 0 7 0.33 0 0
CUI: C1836736
Disease: White eyelashes
White eyelashes 		8 0 7 0.32 0 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		9 0 7 0.30 0 0
CUI: C0344312
Disease: White forelock
White forelock 		12 0 7 0.27 0 0
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		17 10 8 0.27 2 0.12
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		12 0 6 0.22 0 0
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		14 0 6 0.21 0 0
CUI: C0080024
Disease: Piebaldism
Piebaldism 		33 0 8 0.17 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 7 0.17 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		7 0 4 0.17 0 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		7 26 4 0.17 1 3.0E-02
CUI: C0025160
Disease: Megacolon
Megacolon 		9 0 4 0.15 0 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 0 5 0.14 0 0
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		3 0 3 0.14 0 0
CUI: C0079661
Disease: Klein's Syndrome
Klein's Syndrome 		4 0 3 0.14 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 6 0.12 0 0
CUI: C0334439
Disease: Malignant desmoplastic melanoma
Malignant desmoplastic melanoma 		7 0 3 0.12 0 0
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting 		27 0 5 0.12 0 0
CUI: C0345244
Disease: Neuronal intestinal dysplasia
Neuronal intestinal dysplasia 		8 0 3 0.12 0 0
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		21 0 4 0.11 0 0
CUI: C0349515
Disease: Amelanotic Skin Melanoma
Amelanotic Skin Melanoma 		13 0 3 9.7E-02 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 0 3 9.7E-02 0 0
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic 		36 0 5 9.6E-02 0 0
CUI: C0078921
Disease: Albinism, Tyrosinase-Negative
Albinism, Tyrosinase-Negative 		2 0 2 9.5E-02 0 0