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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 8 0.15 8 0.12
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 13 4 0.13 3 6.7E-02
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 4 0.12 4 8.0E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 6 0.12 4 6.2E-02
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		3 3 3 0.12 1 2.7E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		13 15 4 0.11 6 0.14
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 9 0.11 7 5.8E-02
CUI: C0027960
Disease: Nevus
Nevus 		4 7 3 0.11 2 5.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 6 0.11 5 6.5E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		15 21 4 0.11 3 5.7E-02
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 3 0.11 2 5.1E-02
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 5 0.11 3 5.3E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		6 0 3 0.10 0 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 11 3 0.10 5 0.12
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		17 17 4 0.10 2 4.0E-02
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 3 1.0E-01 2 4.9E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 5 9.6E-02 4 5.7E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 3 9.4E-02 3 5.4E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		10 9 3 9.1E-02 2 4.8E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 4 8.9E-02 2 3.4E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		11 20 3 8.8E-02 3 5.8E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		11 11 3 8.8E-02 2 4.5E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 3 8.8E-02 6 5.9E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 5 8.6E-02 4 5.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 3 8.6E-02 4 2.2E-02