Source: ALL
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: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.1E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 1 2.5E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 1 5.9E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 5.1E-03 0 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		33 0 1 3.0E-02 0 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint 		1 0 1 1.00 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.8E-03 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 0 1 1.8E-02 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 1 5.9E-02 0 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		12 0 1 8.3E-02 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 1 2.4E-02 0 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		12 0 1 8.3E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		21 2 1 4.8E-02 1 0.11
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 1 2.5E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 1.0E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 1 1.1E-02 0 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 0 1 1.4E-02 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 18 1 6.8E-03 1 4.0E-02
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 1 0.25 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 8 1 4.9E-03 1 6.7E-02
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb 		3 0 1 0.33 0 0
CUI: C1405984
Disease: Absent radius
Absent radius 		24 0 1 4.2E-02 0 0
CUI: C0846967
Disease: Acanthoma
Acanthoma 		5 0 1 0.20 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 11 1 1.6E-02 2 0.12
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 1 2.2E-02 8 0.38