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: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 10 17 0.25 1 1.9E-02
CUI: C0001916
Disease: Albinism
Albinism 		46 27 17 0.22 6 9.1E-02
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		11 58 10 0.20 2 2.0E-02
CUI: C0016689
Disease: Freckles
Freckles 		45 0 13 0.16 0 0
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		54 6 14 0.16 1 2.0E-02
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		70 59 15 0.14 2 2.0E-02
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		9 0 7 0.14 0 0
CUI: C0206735
Disease: Melanoma, Amelanotic
Melanoma, Amelanotic 		19 0 8 0.13 0 0
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		22 0 8 0.13 0 0
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		41 0 10 0.12 0 0
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		126 15 19 0.12 1 1.7E-02
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 8 0.12 0 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		16 0 7 0.12 0 0
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		30 0 8 0.11 0 0
CUI: C0349515
Disease: Amelanotic Skin Melanoma
Amelanotic Skin Melanoma 		13 0 6 0.11 0 0
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		50 0 9 1.0E-01 0 0
CUI: C0080024
Disease: Piebaldism
Piebaldism 		33 0 7 9.3E-02 0 0
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		24 72 6 9.0E-02 1 8.6E-03
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		24 0 6 9.0E-02 0 0
CUI: C0558356
Disease: Malignant melanoma of eye
Malignant melanoma of eye 		38 0 7 8.7E-02 0 0
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue 		51 0 8 8.7E-02 0 0
CUI: C0346053
Disease: Atypical fibroxanthoma of skin
Atypical fibroxanthoma of skin 		27 0 6 8.6E-02 0 0
CUI: C0334424
Disease: Nodular melanoma
Nodular melanoma 		15 0 5 8.5E-02 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 6 8.5E-02 0 0
CUI: C0346037
Disease: Acral Lentiginous Malignant Melanoma
Acral Lentiginous Malignant Melanoma 		16 0 5 8.3E-02 0 0