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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 2.4E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 3.1E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 0 1 4.0E-03 0 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 1 5.7E-03 1 1.9E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 5.7E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 6.2E-03 0 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 0 1 6.6E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 6.7E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 2 7.2E-03 1 1.4E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 58 1 7.6E-03 1 2.1E-03
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 1 7.6E-03 1 2.0E-03
CUI: C0013421
Disease: Dystonia
Dystonia 		42 0 1 7.8E-03 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 1 7.8E-03 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 7.9E-03 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 7.9E-03 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 8.1E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 2 8.1E-03 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 0 1 8.1E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 0 1 8.2E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 8.3E-03 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 8.5E-03 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 1 8.5E-03 1 2.2E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		29 0 1 8.6E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 8.7E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 0 1 8.7E-03 0 0