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: C0001916
Disease: Albinism
Albinism 		46 27 22 0.36 5 0.16
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		49 45 17 0.25 1 1.9E-02
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 4 11 0.22 1 7.7E-02
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		9 0 7 0.18 0 0
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		54 0 13 0.17 0 0
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		70 0 15 0.16 0 0
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		22 0 8 0.16 0 0
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		38 0 10 0.15 0 0
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		11 0 6 0.14 0 0
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 0.13 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		9 0 5 0.12 0 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 0 6 0.12 0 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 5 0.12 0 0
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		126 15 16 0.11 2 8.7E-02
CUI: C3806221
Disease: Giant melanosomes in melanocytes
Giant melanosomes in melanocytes 		4 0 4 0.11 0 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		15 0 5 0.11 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 0 5 0.10 0 0
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		41 0 7 9.9E-02 0 0
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		19 0 5 9.8E-02 0 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine 		19 0 5 9.8E-02 0 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		20 0 5 9.6E-02 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 5 9.6E-02 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		23 0 5 9.1E-02 0 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 5 9.1E-02 0 0
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula 		11 0 4 9.1E-02 0 0