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: C1865918
Disease: Restrictive external ophthalmoplegia
Restrictive external ophthalmoplegia 		3 2 1 0.33 1 0.14
CUI: C0393483
Disease: Brainstem encephalitis
Brainstem encephalitis 		4 0 1 0.25 0 0
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		4 3 1 0.25 1 0.12
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 4 1 5.9E-02 1 0.11
CUI: C0239804
Disease: White hair
White hair 		18 0 1 5.6E-02 0 0
CUI: C0334409
Disease: Leydig cell tumor, benign
Leydig cell tumor, benign 		18 0 1 5.6E-02 0 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		22 0 1 4.5E-02 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		23 0 1 4.3E-02 0 0
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		24 0 1 4.2E-02 0 0
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		27 0 1 3.7E-02 0 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 2 1 3.6E-02 1 0.14
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		31 0 1 3.2E-02 0 0
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		32 0 1 3.1E-02 0 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 1 2.7E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 6 1 2.4E-02 1 9.1E-02
CUI: C0023601
Disease: Leydig Cell Tumor
Leydig Cell Tumor 		42 0 1 2.4E-02 0 0
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		44 6 1 2.3E-02 1 9.1E-02
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 14 1 2.0E-02 1 5.3E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.7E-02 0 0
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		82 0 1 1.2E-02 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 1 1.2E-02 0 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 0 1 1.2E-02 0 0
CUI: C0017639
Disease: Gliosis
Gliosis 		102 0 1 9.8E-03 0 0
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		102 0 1 9.8E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 1 8.5E-03 1 3.4E-02