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: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		156 0 1 6.4E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 1 7.0E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 1 7.4E-03 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 1 7.7E-03 1 1.8E-02
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		127 0 1 7.9E-03 0 0
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		126 0 1 7.9E-03 0 0
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		120 0 1 8.3E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 1 8.5E-03 1 3.4E-02
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: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		86 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: C1384514
Disease: Conn Syndrome
Conn Syndrome 		82 0 1 1.2E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.7E-02 0 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		50 14 1 2.0E-02 1 5.3E-02
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		44 6 1 2.3E-02 1 9.1E-02
CUI: C0023601
Disease: Leydig Cell Tumor
Leydig Cell Tumor 		42 0 1 2.4E-02 0 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		41 6 1 2.4E-02 1 9.1E-02
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 1 2.7E-02 0 0
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		32 0 1 3.1E-02 0 0
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		31 0 1 3.2E-02 0 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 2 1 3.6E-02 1 0.14
CUI: C0338430
Disease: Limbic Encephalitis
Limbic Encephalitis 		27 0 1 3.7E-02 0 0
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		24 0 1 4.2E-02 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		23 0 1 4.3E-02 0 0