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: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 18 0.16 8 4.6E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 33 0.15 25 7.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 49 0.14 41 7.2E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 19 0.13 10 5.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 24 0.13 16 5.7E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 14 0.13 6 4.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 32 0.12 25 5.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 16 0.12 7 4.0E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 33 0.11 23 4.6E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 12 0.11 5 3.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 21 0.11 12 4.7E-02
CUI: C0349588
Disease: Short stature
Short stature 		190 292 26 0.10 19 5.0E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 39 0.10 3 4.2E-03
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 13 9.9E-02 5 3.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 12 9.8E-02 4 2.3E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 10 9.3E-02 7 5.1E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 11 9.2E-02 13 8.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 34 8.7E-02 13 1.9E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 12 8.6E-02 3 1.4E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 10 8.4E-02 5 3.2E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 11 8.4E-02 4 2.3E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 25 8.3E-02 3 6.6E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 8 8.2E-02 3 2.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 22 8 8.2E-02 1 7.9E-03
CUI: C0027092
Disease: Myopia
Myopia 		45 52 10 8.1E-02 3 1.9E-02