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: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 1 1.0E-01 1 8.3E-02
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 1 5.3E-02 1 5.6E-02
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 6 1 7.7E-02 1 7.1E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 1 9.1E-03 1 7.2E-03
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		1 1 1 0.12 1 0.11
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		1 1 1 0.12 1 0.11
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 6.7E-02 1 5.3E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		8 8 1 6.7E-02 1 6.2E-02
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		7 7 1 7.1E-02 1 6.7E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 1 1.9E-02 1 1.3E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 2 3.6E-02 2 3.1E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		9 0 1 6.2E-02 0 0
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		2 0 1 0.11 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 1 5.0E-02 1 3.8E-02
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 5 1 9.1E-02 1 7.7E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 1 5.0E-02 1 3.6E-02
CUI: C4025665
Disease: Aplasia/Hypoplasia involving the central nervous system
Aplasia/Hypoplasia involving the central nervous system 		1 1 1 0.12 1 0.11
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		4 5 1 9.1E-02 1 7.7E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		7 8 2 0.15 2 0.13
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		2 661 1 0.11 1 1.5E-03
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 		2 13 1 0.11 1 4.8E-02
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant 		2 0 1 0.11 0 0
CUI: C4017102
Disease: ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY 		2 0 1 0.11 0 0
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		1 10 1 0.12 1 5.6E-02
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		1 13 1 0.12 1 4.8E-02