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: C0004106
Disease: Astigmatism
Astigmatism 		15 0 2 5.6E-02 0 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		2 0 1 4.2E-02 0 0
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites 		1 0 1 4.3E-02 0 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		6 0 1 3.6E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		6 0 2 7.4E-02 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		7 0 1 3.4E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 2 3.3E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		6 0 1 3.6E-02 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		13 0 2 5.9E-02 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		17 0 1 2.6E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 2 3.9E-02 0 0
CUI: C0239399
Disease: Short extremities
Short extremities 		7 0 1 3.4E-02 0 0
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		2 0 1 4.2E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		23 0 2 4.5E-02 0 0
CUI: C0241240
Disease: Tall stature
Tall stature 		11 0 2 6.2E-02 0 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		10 0 2 6.5E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 0 2 5.1E-02 0 0
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		2 0 1 4.2E-02 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 0 1 2.0E-02 0 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		9 0 1 3.2E-02 0 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 9.1E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		15 0 1 2.7E-02 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		12 0 1 2.9E-02 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 0 2 4.3E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		15 0 1 2.7E-02 0 0