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: C0085702
Disease: Monocytosis
Monocytosis 		1 1 1 0.50 1 0.50
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		1 0 1 0.50 0 0
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased 		1 1 1 0.50 1 0.50
CUI: C0302845
Disease: MCV - raised
MCV - raised 		1 1 1 0.50 1 0.50
CUI: C0549253
Disease: Dilatation of the bladder
Dilatation of the bladder 		1 1 1 0.50 1 0.50
CUI: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal 		1 1 1 0.50 1 0.50
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		1 1 1 0.50 1 0.50
CUI: C1864996
Disease: Visceral Neuropathy, Familial, Autosomal Dominant
Visceral Neuropathy, Familial, Autosomal Dominant 		1 0 1 0.50 0 0
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		1 12 1 0.50 1 7.7E-02
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level 		1 1 1 0.50 1 0.50
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		2 2 1 0.33 1 0.33
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low 		2 2 1 0.33 1 0.33
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		2 2 1 0.33 1 0.33
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		2 2 1 0.33 1 0.33
CUI: C1839972
Disease: Increased IgM level
Increased IgM level 		2 2 1 0.33 1 0.33
CUI: C1855311
Disease: Megacystis
Megacystis 		2 0 1 0.33 0 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		2 2 1 0.33 1 0.33
CUI: C1860130
Disease: Low alkaline phosphatase
Low alkaline phosphatase 		2 7 1 0.33 1 0.12
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		3 5 1 0.25 1 0.17
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		3 2 1 0.25 1 0.33
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		4 4 1 0.20 1 0.20
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		4 19 1 0.20 1 5.0E-02
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		4 5 1 0.20 1 0.17
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		5 5 1 0.17 1 0.17
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		6 7 1 0.14 1 0.12