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: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 17 12 0.86 12 0.18
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		6 14 5 0.36 5 7.0E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 6 0.19 4 4.2E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 6 0.18 6 2.6E-02
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		7 0 3 0.18 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		8 0 3 0.17 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 157 5 0.16 4 1.9E-02
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 0 2 0.15 0 0
CUI: C3549567
Disease: Echogenic kidneys
Echogenic kidneys 		2 2 2 0.15 2 3.2E-02
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 0 4 0.15 0 0
CUI: C0035637
Disease: Rinderpest
Rinderpest 		3 5 2 0.14 2 3.1E-02
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		3 5 2 0.14 2 3.1E-02
CUI: C1864785
Disease: Normal kidneys
Normal kidneys 		3 3 2 0.14 2 3.2E-02
CUI: C0426817
Disease: Short ribs
Short ribs 		12 0 3 0.14 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 0 4 0.13 0 0
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		5 0 2 0.12 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 4 0.12 4 4.7E-02
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		6 0 2 0.12 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		6 0 2 0.12 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		17 0 3 0.11 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		7 0 2 0.11 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		18 0 3 0.11 0 0
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		18 61 3 0.11 3 2.5E-02
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		9 0 2 1.0E-01 0 0
CUI: C0031154
Disease: Peritonitis
Peritonitis 		1 0 1 7.7E-02 0 0