Source: CLINVAR ×
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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		7 6 1 0.12 1 0.12
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		16 22 2 0.12 2 8.7E-02
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		16 26 2 0.12 2 7.4E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		8 10 1 0.11 2 0.18
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		9 11 1 1.0E-01 2 0.17
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		10 11 1 9.1E-02 2 0.17
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		10 13 1 9.1E-02 2 0.14
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		10 0 1 9.1E-02 0 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		12 0 1 7.7E-02 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		14 17 1 6.7E-02 2 0.11
CUI: C0013595
Disease: Eczema
Eczema 		15 0 1 6.2E-02 0 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 6.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 5.9E-02 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 1 5.6E-02 2 9.1E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 1 4.2E-02 1 3.4E-02
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 4.0E-02 0 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 1 3.8E-02 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		27 70 1 3.6E-02 1 1.4E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 1 2.9E-02 2 4.7E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 2.5E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.4E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.8E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 1 1.6E-02 2 2.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 1 7.8E-03 2 1.2E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.2E-03 0 0