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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 14 0.12 9 4.9E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 14 0.12 10 5.1E-02
CUI: C0241240
Disease: Tall stature
Tall stature 		11 14 8 0.12 8 6.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 38 0.12 42 7.3E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 12 0.11 4 2.2E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 10 0.11 5 3.2E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 10 0.11 6 3.8E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 11 0.11 9 5.5E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 18 0.11 11 3.7E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 26 0.10 32 6.5E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 13 0.10 5 2.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 18 0.10 7 2.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 28 0.10 14 2.7E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 10 0.10 19 0.11
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 26 7 9.7E-02 2 1.4E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		27 34 8 9.6E-02 3 2.0E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 8 9.4E-02 4 2.8E-02
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 8 9.3E-02 4 1.3E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 8 9.2E-02 5 1.5E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 7 9.0E-02 2 1.4E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 9 8.9E-02 4 2.2E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 115 7 8.9E-02 4 1.8E-02
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 8 8.8E-02 7 4.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 12 8.6E-02 3 1.4E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 11 8.2E-02 5 2.5E-02