Source: INFERRED ×
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) 		160 246 90 7.6E-02 58 0.12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 622 0.32 65 8.9E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 20 1.8E-02 23 7.8E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 47 4.0E-02 29 7.6E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 10 8.9E-03 23 6.7E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 244 0.17 26 5.7E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 12 1.1E-02 22 5.2E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		259 35 143 0.12 16 5.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		269 106 113 8.8E-02 19 5.0E-02
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 466 0.24 33 4.9E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 97 7.8E-02 32 4.8E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		98 38 60 5.2E-02 15 4.8E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		297 39 210 0.17 15 4.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 327 0.24 16 4.5E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 24 2.1E-02 15 4.5E-02
CUI: C0521525
Disease: Short neck
Short neck 		288 29 196 0.16 13 4.2E-02
CUI: C0575802
Disease: Small hand
Small hand 		108 31 75 6.5E-02 13 4.2E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		334 62 148 0.11 13 3.8E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		250 43 178 0.15 12 3.7E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 98 8.5E-02 11 3.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 353 0.21 16 3.6E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		21 24 13 1.2E-02 11 3.6E-02
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 5 4.5E-03 12 3.6E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 112 9.4E-02 11 3.6E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 94 7.8E-02 11 3.5E-02