Source: ALL
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 5 9.4E-03 1 1.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 21 2.0E-02 2 2.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 35 1.9E-02 4 6.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 25 4.1E-02 3 4.7E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 2 6.6E-03 2 3.9E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 4 1.2E-02 1 2.2E-03
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		69 317 11 7.1E-02 2 4.8E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 3 6.6E-03 1 2.9E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 22 7.5E-02 4 1.2E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		666 194 40 5.5E-02 1 3.4E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 21 0.12 42 0.17
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		11 178 2 1.9E-02 1 3.6E-03
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		1180 140 49 4.0E-02 1 4.1E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 7 1.3E-02 2 9.0E-03
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 116 13 0.12 5 2.3E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 7 4.1E-02 7 3.4E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 4 1.1E-02 2 9.7E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 9 8.0E-02 42 0.25
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 26 2.9E-02 1 5.1E-03
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 7 1.2E-02 1 5.2E-03
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		502 80 8 1.4E-02 1 5.5E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 4 7.7E-03 1 5.7E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 5 1.5E-02 1 5.7E-03
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		276 54 26 7.5E-02 2 1.3E-02
CUI: C0040822
Disease: Tremor
Tremor 		528 52 15 2.5E-02 1 6.5E-03