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: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 3.8E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 0 1 3.4E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		1 0 1 3.8E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 3.7E-02 0 0
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		2 0 1 3.7E-02 0 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		2 0 1 3.7E-02 0 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		1 0 1 3.8E-02 0 0
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		2 0 1 3.7E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		3 0 1 3.6E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 0 1 2.9E-02 0 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		1 1 1 3.8E-02 1 6.6E-03
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 0 1 2.9E-02 0 0
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
Abnormality of the posterior cranial fossa 		1 0 1 3.8E-02 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 1 3.2E-02 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		2 2 1 3.7E-02 1 6.5E-03
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		1 0 1 3.8E-02 0 0
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		1 0 1 3.8E-02 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		1 0 1 3.8E-02 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		1 0 1 3.8E-02 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 2 2.9E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.3E-02 0 0
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		1 1 1 3.8E-02 1 6.6E-03
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		4 0 2 7.1E-02 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 0 1 3.8E-02 0 0
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 15 0.31 95 0.35