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: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 105 10 0.29 86 0.44
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		6 14 5 0.19 5 2.7E-02
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 6 0.18 6 3.2E-02
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		13 62 6 0.18 6 2.6E-02
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		7 7 5 0.18 2 1.1E-02
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		7 27 5 0.18 4 2.0E-02
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		6 8 4 0.14 2 1.1E-02
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 52 5 0.12 3 1.3E-02
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		3 23 3 0.12 9 4.8E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 4 8.7E-02 4 1.9E-02
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		2 24 2 7.7E-02 5 2.6E-02
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 2 7.7E-02 12 6.7E-02
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		2 25 2 7.7E-02 7 3.6E-02
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		2 24 2 7.7E-02 6 3.1E-02
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		17 21 3 7.5E-02 3 1.6E-02
CUI: C1864785
Disease: Normal kidneys
Normal kidneys 		3 3 2 7.4E-02 2 1.1E-02
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		5 13 2 6.9E-02 1 5.3E-03
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		7 10 2 6.5E-02 1 5.4E-03
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		7 16 2 6.5E-02 1 5.3E-03
CUI: C1854912
Disease: Short long bone
Short long bone 		8 19 2 6.2E-02 1 5.2E-03
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		9 0 2 6.1E-02 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 5 6.0E-02 4 1.6E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 90 3 5.9E-02 5 1.9E-02
CUI: C0426817
Disease: Short ribs
Short ribs 		12 27 2 5.6E-02 1 5.0E-03
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		15 18 2 5.1E-02 1 5.2E-03