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 3.3E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 0 1 3.0E-02 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		1 0 1 3.3E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 0 1 3.2E-02 0 0
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 0 1 3.3E-02 0 0
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		2 0 1 3.2E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		1 0 1 3.3E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 0 1 2.6E-02 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		4 0 1 3.0E-02 0 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		1 0 1 3.3E-02 0 0
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation 		1 0 1 3.3E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		3 0 1 3.1E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 0 1 2.0E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 0 1 2.6E-02 0 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		1 0 1 3.3E-02 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 0 1 2.6E-02 0 0
CUI: C3280768
Disease: Abnormality of the posterior cranial fossa
Abnormality of the posterior cranial fossa 		1 0 1 3.3E-02 0 0
CUI: C4073188
Disease: Abnormality of the somatic nervous system
Abnormality of the somatic nervous system 		1 0 1 3.3E-02 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 1 2.9E-02 0 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		2 0 1 3.2E-02 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		2 2 1 3.2E-02 1 5.3E-03
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		1 0 1 3.3E-02 0 0
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		1 0 1 3.3E-02 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		1 0 1 3.3E-02 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		1 0 1 3.3E-02 0 0