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 59 0.14 65 8.9E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 44 0.14 58 0.12
CUI: C0036572
Disease: Seizures
Seizures 		237 417 36 9.2E-02 33 4.9E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 37 0.10 32 4.8E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 31 0.12 29 7.6E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 37 0.13 26 5.7E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 20 0.10 23 7.8E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 6 3.1E-02 23 6.7E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 8 4.1E-02 22 5.2E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 26 0.10 19 5.0E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 14 6.9E-02 16 5.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 18 7.7E-02 16 4.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 21 7.1E-02 16 3.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 44 9.1E-02 15 1.8E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 18 8.9E-02 15 4.7E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 13 6.0E-02 15 4.5E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 7 3.5E-02 15 4.8E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 62 13 5.9E-02 13 3.8E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 14 6.9E-02 13 4.2E-02
CUI: C0575802
Disease: Small hand
Small hand 		24 31 12 5.9E-02 13 4.2E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 43 14 6.6E-02 12 3.7E-02
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 4 2.1E-02 12 3.6E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 52 0.11 12 1.3E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 12 5.4E-02 12 3.4E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 14 6.7E-02 11 3.4E-02