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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 2.4E-02 0 0
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 3.8E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		4 0 1 3.4E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 2 1 3.7E-02 1 7.0E-03
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 0 1 3.8E-02 0 0
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density 		1 0 1 3.8E-02 0 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		3 0 1 3.6E-02 0 0
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		1 0 1 3.8E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		2 0 1 3.7E-02 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		2 2 1 3.7E-02 1 7.0E-03
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		5 0 1 3.3E-02 0 0
CUI: C4023443
Disease: Absent antitragus
Absent antitragus 		1 0 1 3.8E-02 0 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		1 1 1 3.8E-02 1 7.1E-03
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		1 1 1 3.8E-02 1 7.1E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 2 2.9E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 0 1 3.7E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 3.8E-02 2 1.4E-02
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		1 7 1 3.8E-02 2 1.4E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 1.3E-02 0 0
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		6 12 1 3.2E-02 2 1.3E-02
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		4 0 1 3.4E-02 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 3.8E-02 1 7.1E-03
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		9 11 1 2.9E-02 1 6.6E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 15 0.31 94 0.36
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		18 114 9 0.26 66 0.35