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: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		126 15 54 0.43 6 0.40
CUI: C0001916
Disease: Albinism
Albinism 		46 0 17 0.20 0 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 13 0.17 0 0
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		49 45 14 0.16 1 2.0E-02
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		11 58 7 0.12 1 1.6E-02
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 8 0.12 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 8 0.11 0 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 0 7 0.11 0 0
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		21 0 7 0.10 0 0
CUI: C0080024
Disease: Piebaldism
Piebaldism 		33 0 8 0.10 0 0
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		14 0 6 9.7E-02 0 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		37 0 8 9.6E-02 0 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		28 0 7 9.3E-02 0 0
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		70 0 10 8.8E-02 0 0
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		9 0 5 8.6E-02 0 0
CUI: C0016689
Disease: Freckles
Freckles 		45 0 7 7.6E-02 0 0
CUI: C4520764
Disease: Stage 0 Cutaneous Melanoma AJCC v6 and v7
Stage 0 Cutaneous Melanoma AJCC v6 and v7 		18 0 5 7.5E-02 0 0
CUI: C0346040
Disease: Stage 0 Skin Melanoma
Stage 0 Skin Melanoma 		21 0 5 7.1E-02 0 0
CUI: C0004565
Disease: Melanoma, B16
Melanoma, B16 		157 0 14 7.1E-02 0 0
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		22 0 5 7.0E-02 0 0
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		53 0 7 7.0E-02 0 0
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		24 0 5 6.8E-02 0 0
CUI: C0239803
Disease: Red hair
Red hair 		9 0 4 6.8E-02 0 0
CUI: C0025218
Disease: Chloasma
Chloasma 		25 0 5 6.8E-02 0 0
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		25 0 5 6.8E-02 0 0