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: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		1 1 1 1.1E-02 1 3.9E-03
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		4 4 1 1.1E-02 1 3.8E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 0 1 9.3E-03 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 2 2.1E-02 2 7.2E-03
CUI: C4025796
Disease: Abnormality of the fingertips
Abnormality of the fingertips 		1 0 1 1.1E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		2 0 1 1.1E-02 0 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		3 0 1 1.1E-02 0 0
CUI: C4025761
Disease: Abnormality of the integument
Abnormality of the integument 		1 0 1 1.1E-02 0 0
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		1 0 1 1.1E-02 0 0
CUI: C4021988
Disease: Abnormality of the lumbar spine
Abnormality of the lumbar spine 		1 1 1 1.1E-02 1 3.9E-03
CUI: C4025888
Disease: Abnormality of the menstrual cycle
Abnormality of the menstrual cycle 		1 1 1 1.1E-02 1 3.9E-03
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		2 0 1 1.1E-02 0 0
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum 		1 0 1 1.1E-02 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 0 1 1.1E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		8 8 2 2.1E-02 2 7.6E-03
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 9 1 1.0E-02 1 3.8E-03
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		1 0 1 1.1E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		11 13 1 1.0E-02 2 7.5E-03
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		3 0 1 1.1E-02 0 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		4 5 1 1.1E-02 1 3.8E-03
CUI: C4022454
Disease: Abnormality of upper limb bone
Abnormality of upper limb bone 		1 0 1 1.1E-02 0 0
CUI: C4021387
Disease: Abnormality of upper limb joint
Abnormality of upper limb joint 		1 0 1 1.1E-02 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		5 8 1 1.1E-02 1 3.8E-03
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		3 3 1 1.1E-02 1 3.9E-03
CUI: C0426816
Disease: Absence of rib
Absence of rib 		1 1 1 1.1E-02 1 3.9E-03