Source: CURATED ×
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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		42 0 41 0.50 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		39 253 23 0.24 87 0.32
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		156 0 26 0.12 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		41 0 8 7.0E-02 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		77 0 10 6.8E-02 0 0
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		17 0 6 6.5E-02 0 0
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		9 0 5 5.9E-02 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		20 0 5 5.2E-02 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		44 0 6 5.0E-02 0 0
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		5 0 4 4.9E-02 0 0
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		6 0 4 4.8E-02 0 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		30 0 5 4.7E-02 0 0
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		11 0 4 4.5E-02 0 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		12 0 4 4.5E-02 0 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		13 0 4 4.4E-02 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		14 0 4 4.4E-02 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		16 0 4 4.3E-02 0 0
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		41 0 5 4.3E-02 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		17 0 4 4.3E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		23 0 4 4.0E-02 0 0
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		24 0 4 4.0E-02 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		53 0 5 3.9E-02 0 0
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		27 0 4 3.8E-02 0 0
CUI: C0035238
Disease: Congenital abnormality of respiratory system
Congenital abnormality of respiratory system 		3 0 3 3.7E-02 0 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		3 0 3 3.7E-02 0 0