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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 0 1 8.6E-03 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		1 0 1 9.7E-03 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 0 1 9.4E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		3 4 1 9.5E-03 1 7.5E-03
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		3 4 1 9.5E-03 1 7.5E-03
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		12 10 1 8.8E-03 1 7.1E-03
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 3 2.3E-02 1 6.0E-03
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		1 0 1 9.7E-03 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		7 0 1 9.2E-03 0 0
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		1 1 1 9.7E-03 1 7.6E-03
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 0 1 9.0E-03 0 0
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		2 9 1 9.6E-03 8 6.1E-02
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		1 0 1 9.7E-03 0 0
CUI: C4073265
Disease: Abnormality of inferior oblique extraocular muscle
Abnormality of inferior oblique extraocular muscle 		1 1 1 9.7E-03 1 7.6E-03
CUI: C1387925
Disease: Abnormality of limbs
Abnormality of limbs 		1 1 1 9.7E-03 1 7.6E-03
CUI: C4073241
Disease: Abnormality of nasopharyngeal adenoids
Abnormality of nasopharyngeal adenoids 		1 0 1 9.7E-03 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		4 0 1 9.4E-03 0 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		8 0 2 1.8E-02 0 0
CUI: C4024158
Disease: Abnormality of the columella
Abnormality of the columella 		1 0 1 9.7E-03 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		13 0 1 8.7E-03 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 2 1.8E-02 1 6.5E-03
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		1 0 1 9.7E-03 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 9.1E-03 1 7.1E-03
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		8 0 1 9.1E-03 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 0 1 9.0E-03 0 0