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: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism 		2 0 2 0.22 0 0
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		22 0 5 0.19 0 0
CUI: C3806221
Disease: Giant melanosomes in melanocytes
Giant melanosomes in melanocytes 		4 0 2 0.18 0 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 7 0.18 0 0
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		11 0 3 0.18 0 0
CUI: C0001916
Disease: Albinism
Albinism 		46 0 8 0.17 0 0
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas 		5 0 2 0.17 0 0
CUI: C0015396
Disease: Eye Color
Eye Color 		13 0 3 0.16 0 0
CUI: C1849412
Disease: Macular hypoplasia
Macular hypoplasia 		7 0 2 0.14 0 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 4 0.14 0 0
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		49 0 7 0.14 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		18 0 3 0.12 0 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		37 0 5 0.12 0 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		19 0 3 0.12 0 0
CUI: C0268499
Disease: Autosomal dominant oculocutaneous albinism
Autosomal dominant oculocutaneous albinism 		1 0 1 0.11 0 0
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		1 0 1 0.11 0 0
CUI: C0333008
Disease: Congenital hypopigmentation
Congenital hypopigmentation 		1 0 1 0.11 0 0
CUI: C0334428
Disease: Fibrous papule of nose
Fibrous papule of nose 		1 0 1 0.11 0 0
CUI: C0346046
Disease: Fibrous papule of face
Fibrous papule of face 		1 0 1 0.11 0 0
CUI: C0346977
Disease: Secondary malignant neoplasm of spleen
Secondary malignant neoplasm of spleen 		1 0 1 0.11 0 0
CUI: C0454592
Disease: Deep dyslexia
Deep dyslexia 		1 0 1 0.11 0 0
CUI: C0543910
Disease: Psychosis, childhood onset
Psychosis, childhood onset 		1 0 1 0.11 0 0
CUI: C1313983
Disease: Acute contagious conjunctivitis
Acute contagious conjunctivitis 		1 0 1 0.11 0 0
CUI: C1332489
Disease: Benign Dermal Neoplasm
Benign Dermal Neoplasm 		1 0 1 0.11 0 0
CUI: C1334776
Disease: Soft Tissue Tumor of Uncertain Differentiation
Soft Tissue Tumor of Uncertain Differentiation 		1 0 1 0.11 0 0