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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 5 5.4E-02 3 2.8E-02
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		17 0 5 5.4E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 0 6 5.4E-02 0 0
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 6 5.3E-02 2 3.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 12 5.2E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 7 5.2E-02 1 5.6E-03
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 115 5 5.1E-02 2 9.7E-03
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 5 5.1E-02 1 8.5E-03
CUI: C2673410
Disease: Small midface
Small midface 		23 0 5 5.1E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 66 6 5.0E-02 2 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 6 5.0E-02 0 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		6 0 4 4.8E-02 0 0
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 0 4 4.8E-02 0 0
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		7 34 4 4.8E-02 1 7.9E-03
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 7 4.7E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 0 5 4.7E-02 0 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 5 4.7E-02 2 7.2E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 5 4.7E-02 0 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 34 5 4.7E-02 1 7.9E-03
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		10 11 4 4.6E-02 1 9.7E-03
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		10 0 4 4.6E-02 0 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		11 13 4 4.5E-02 2 1.9E-02
CUI: C0241210
Disease: Speech Delay
Speech Delay 		11 0 4 4.5E-02 0 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 5 4.5E-02 3 7.4E-03
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		11 0 4 4.5E-02 0 0