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: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 1 3.3E-03 1 1.9E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 4.7E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.2E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 2 6.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 2 6.0E-03 1 1.6E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 6.1E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 6.2E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 0 1 7.8E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 2 8.4E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 0 1 1.1E-02 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 1 1.5E-02 1 6.7E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.6E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 2.1E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 2.3E-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: C1836830
Disease: Developmental regression
Developmental regression 		39 0 1 2.5E-02 0 0
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		38 0 1 2.6E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 2.6E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 3.1E-02 0 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 0 1 3.2E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 3.4E-02 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 0 1 4.3E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 24 1 4.3E-02 1 1.8E-02
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		21 0 1 4.5E-02 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		21 0 1 4.5E-02 0 0