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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 5.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 2 5.3E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 2 5.8E-03 1 1.1E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 7.7E-03 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 8.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 0 1 9.6E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 9.7E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 417 3 1.1E-02 1 1.2E-03
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.1E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 2 1.2E-02 2 3.3E-03
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.2E-02 0 0
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		38 0 1 1.3E-02 0 0
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 0 1 1.3E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 1.3E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 1.3E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 3 1.3E-02 1 1.4E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.3E-02 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 1 1.4E-02 1 2.0E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 0 1 1.4E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 0 1 1.4E-02 0 0
CUI: C0456070
Disease: Growth delay
Growth delay 		31 0 1 1.4E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 0 1 1.4E-02 0 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 0 1 1.4E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 0 1 1.4E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 1.4E-02 0 0