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: C0000731
Disease: Abdomen distended
Abdomen distended 		6 6 1 7.1E-02 1 6.2E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 4.2E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 1.0E-01 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		6 0 1 7.1E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		4 5 1 8.3E-02 2 0.14
CUI: C4020959
Disease: Abnormal pigmentation of the oral mucosa
Abnormal pigmentation of the oral mucosa 		1 1 1 0.11 1 9.1E-02
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		7 0 1 6.7E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		6 6 1 7.1E-02 1 6.2E-02
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 13 1 5.9E-02 2 9.1E-02
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		1 0 1 0.11 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		13 0 1 4.8E-02 0 0
CUI: C4025796
Disease: Abnormality of the fingertips
Abnormality of the fingertips 		1 0 1 0.11 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		2 3 1 1.0E-01 2 0.17
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		1 2 1 0.11 2 0.18
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		1 2 1 0.11 2 0.18
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.9E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 2 3.5E-02 2 3.0E-02
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		5 8 1 7.7E-02 1 5.6E-02
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		3 3 1 9.1E-02 2 0.17
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		1 39 1 0.11 1 2.0E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 0 1 2.2E-02 0 0
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		1 37 1 0.11 1 2.1E-02
CUI: C1836824
Disease: Amish Infantile Epilepsy Syndrome
Amish Infantile Epilepsy Syndrome 		2 0 1 1.0E-01 0 0
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		9 15 1 5.9E-02 2 8.3E-02
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		7 0 1 6.7E-02 0 0