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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.7E-03 0 0
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		6 0 1 0.17 0 0
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		10 2 1 1.0E-01 2 0.18
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		16 0 1 6.2E-02 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		46 0 1 2.2E-02 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.2E-02 0 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 1 0.11 0 0
CUI: C1862479
Disease: Absent phalangeal crease
Absent phalangeal crease 		3 0 1 0.33 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 1 5.0E-03 2 8.0E-02
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 8.3E-03 0 0
CUI: C0410740
Disease: Acquired deformity of finger
Acquired deformity of finger 		5 0 1 0.20 0 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 1 6.7E-03 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		615 0 1 1.6E-03 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.5E-03 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 1 5.3E-02 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 0 1 9.8E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 33 1 5.1E-03 1 2.3E-02
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		15 0 1 6.7E-02 0 0
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		25 0 1 4.0E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 6.8E-03 0 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		35 0 1 2.9E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		842 0 1 1.2E-03 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 1 1.0E-02 0 0
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		16 0 1 6.2E-02 0 0