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: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 1 1 0.50 1 2.9E-02
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 0 1 8.3E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 2.6E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 1 2.5E-02 1 1.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 2.1E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		10 0 1 9.1E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 2.3E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 3.1E-02 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 0 1 6.2E-02 0 0
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		38 0 1 2.6E-02 0 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		6 0 1 0.14 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 1 2.5E-02 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		12 0 1 7.7E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 2 6.0E-03 1 1.6E-03
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		6 0 1 0.14 0 0
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		16 0 1 5.9E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 0 2 8.7E-02 0 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 0 1 3.2E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 7.8E-03 0 0
CUI: C0017601
Disease: Glaucoma
Glaucoma 		6 0 1 0.14 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 0 1 4.3E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 1 3.3E-03 1 1.9E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 24 1 4.3E-02 1 1.8E-02
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		1 0 1 0.50 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		14 0 1 6.7E-02 0 0