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: C0013363
Disease: Dysautonomia
Dysautonomia 		9 9 3 0.18 3 0.16
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		4 5 2 0.15 3 0.20
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 4 0.14 4 0.11
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		14 14 3 0.14 2 8.0E-02
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		6 7 2 0.13 2 0.11
CUI: C1820737
Disease: Temperature instability
Temperature instability 		6 8 2 0.13 2 0.11
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		6 0 2 0.13 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		8 9 2 0.12 2 1.0E-01
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		8 8 2 0.12 1 5.0E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 5 0.12 3 5.9E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea 		9 11 2 0.11 3 0.14
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		11 15 2 1.0E-01 1 3.7E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		11 13 2 1.0E-01 1 4.0E-02
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		12 13 2 9.5E-02 2 8.3E-02
CUI: C0085702
Disease: Monocytosis
Monocytosis 		1 1 1 9.1E-02 1 7.7E-02
CUI: C0162323
Disease: Polyarthritis
Polyarthritis 		1 1 1 9.1E-02 1 7.7E-02
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		1 1 1 9.1E-02 1 7.7E-02
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		1 2 1 9.1E-02 2 0.15
CUI: C0302845
Disease: MCV - raised
MCV - raised 		1 1 1 9.1E-02 1 7.7E-02
CUI: C0341266
Disease: Diverticulosis of the duodenum
Diverticulosis of the duodenum 		1 1 1 9.1E-02 1 7.7E-02
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		1 27 1 9.1E-02 1 2.6E-02
CUI: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		1 1 1 9.1E-02 1 7.7E-02
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		1 1 1 9.1E-02 1 7.7E-02
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
Elevated maternal serum alpha-fetoprotein 		1 1 1 9.1E-02 1 7.7E-02
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		1 27 1 9.1E-02 1 2.6E-02