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: C2931599
Disease: Oculocutaneous albinism type 3
Oculocutaneous albinism type 3 		2 0 1 0.33 0 0
CUI: C2676026
Disease: Optic nerve dysplasia
Optic nerve dysplasia 		7 0 2 0.29 0 0
CUI: C0278881
Disease: stage II melanoma
stage II melanoma 		3 0 1 0.25 0 0
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		3 0 1 0.25 0 0
CUI: C1096099
Disease: Iris transillumination defect
Iris transillumination defect 		3 0 1 0.25 0 0
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		3 0 1 0.25 0 0
CUI: C4053528
Disease: Cribriform Neuroepithelial Tumor
Cribriform Neuroepithelial Tumor 		3 0 1 0.25 0 0
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		3 0 1 0.25 0 0
CUI: C4520731
Disease: Stage II Cutaneous Melanoma AJCC v6 and v7
Stage II Cutaneous Melanoma AJCC v6 and v7 		3 0 1 0.25 0 0
CUI: C0206737
Disease: Nevus, Intradermal
Nevus, Intradermal 		4 0 1 0.20 0 0
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1 		4 0 1 0.20 0 0
CUI: C0278880
Disease: Stage I Cutaneous Melanoma AJCC v6
Stage I Cutaneous Melanoma AJCC v6 		4 0 1 0.20 0 0
CUI: C1377589
Disease: Regressing nevus
Regressing nevus 		4 0 1 0.20 0 0
CUI: C0221262
Disease: Poliosis
Poliosis 		5 0 1 0.17 0 0
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor 		5 0 1 0.17 0 0
CUI: C4024172
Disease: Abnormality of hair pigmentation
Abnormality of hair pigmentation 		5 0 1 0.17 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 0 2 0.15 0 0
CUI: C1848606
Disease: Vestibular hypofunction
Vestibular hypofunction 		13 0 2 0.15 0 0
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		6 0 1 0.14 0 0
CUI: C0276640
Disease: Transmissible mink encephalopathy
Transmissible mink encephalopathy 		6 0 1 0.14 0 0
CUI: C1337036
Disease: Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 		6 0 1 0.14 0 0
CUI: C0262977
Disease: Achromia of skin
Achromia of skin 		7 0 1 0.12 0 0
CUI: C0334439
Disease: Malignant desmoplastic melanoma
Malignant desmoplastic melanoma 		7 0 1 0.12 0 0
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders 		16 0 2 0.12 0 0
CUI: C1836737
Disease: White eyebrow
White eyebrow 		7 0 1 0.12 0 0