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: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		22 0 14 0.18 0 0
CUI: C0001916
Disease: Albinism
Albinism 		46 0 17 0.17 0 0
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		108 10 25 0.16 1 1.5E-02
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 15 0.16 0 0
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		49 45 15 0.14 2 2.0E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		41 0 12 0.12 0 0
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		54 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 9 6 8.2E-02 7 0.11
CUI: C3888001
Disease: HERMANSKY-PUDLAK SYNDROME 3
HERMANSKY-PUDLAK SYNDROME 3 		5 7 5 7.1E-02 5 8.2E-02
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		126 0 13 7.1E-02 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 6 6.7E-02 0 0
CUI: C0085581
Disease: Restrictive lung disease
Restrictive lung disease 		13 0 5 6.4E-02 0 0
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		5 10 4 5.6E-02 4 6.2E-02
CUI: C0014591
Disease: Epistaxis
Epistaxis 		82 0 8 5.6E-02 0 0
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		25 0 5 5.6E-02 0 0
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		14 0 4 5.0E-02 0 0
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		14 0 4 5.0E-02 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 10 4.8E-02 0 0
CUI: C0549493
Disease: Alveolitis
Alveolitis 		63 0 6 4.7E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 5 4.7E-02 0 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		267 0 15 4.7E-02 0 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 0 9 4.6E-02 0 0
CUI: C0232849
Disease: Bladder pain
Bladder pain 		23 0 4 4.5E-02 0 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		48 0 5 4.4E-02 0 0
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		25 0 4 4.4E-02 0 0