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: C2700617
Disease: Irritation - emotion
Irritation - emotion 		12 14 5 0.21 5 0.18
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 6 0.19 7 0.18
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		4 5 3 0.17 4 0.20
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		6 6 3 0.15 1 4.2E-02
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 3 0.15 3 0.14
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		7 8 3 0.14 3 0.12
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		8 8 3 0.14 3 0.12
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 5 0.14 4 1.0E-01
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 3 0.12 3 0.11
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		10 9 3 0.12 3 0.12
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		10 11 3 0.12 2 7.1E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		10 11 3 0.12 3 0.11
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		2 2 2 0.12 2 0.11
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		2 2 2 0.12 1 5.0E-02
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		2 2 2 0.12 2 0.11
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		2 2 2 0.12 1 5.0E-02
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		2 2 2 0.12 2 0.11
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 2 2 0.12 2 0.11
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		2 2 2 0.12 1 5.0E-02
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		2 13 2 0.12 2 6.7E-02
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		3 4 2 0.11 3 0.15
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 49 6 0.11 6 9.7E-02
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 3 2 0.11 1 4.8E-02
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		3 4 2 0.11 2 9.5E-02
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		14 15 3 0.11 2 6.2E-02