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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 2.9E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.2E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.1E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 2 5.9E-03 0 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.1E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.4E-02 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 1.9E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.2E-02 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		37 63 1 2.3E-02 1 6.5E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 2.7E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 0 1 3.2E-02 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		21 0 1 3.7E-02 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 0 1 3.7E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 0 1 4.0E-02 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		17 0 1 4.3E-02 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 0 1 4.8E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 5.0E-02 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		13 0 1 5.3E-02 0 0
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		12 27 1 5.6E-02 1 8.4E-03
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		12 0 1 5.6E-02 0 0
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		12 0 1 5.6E-02 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 1 5.9E-02 0 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		10 10 1 6.2E-02 1 9.8E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 3 6.4E-02 0 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		9 7 1 6.7E-02 1 1.0E-02