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: C0000737
Disease: Abdominal Pain
Abdominal Pain 		9 11 2 6.1E-02 2 1.9E-02
CUI: C4476564
Disease: Abnormal brain lactate level by MRS
Abnormal brain lactate level by MRS 		1 0 1 3.8E-02 0 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		2 2 1 3.7E-02 1 1.0E-02
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		4 5 1 3.4E-02 2 2.0E-02
CUI: C4020959
Disease: Abnormal pigmentation of the oral mucosa
Abnormal pigmentation of the oral mucosa 		1 0 1 3.8E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		1 0 1 3.8E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		9 13 1 2.9E-02 2 1.8E-02
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: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		2 3 1 3.7E-02 2 2.0E-02
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		1 2 1 3.8E-02 2 2.0E-02
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		2 2 1 3.7E-02 1 1.0E-02
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		1 2 1 3.8E-02 2 2.0E-02
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 1.0E-02
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		1 1 1 3.8E-02 1 1.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 1.4E-02 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 58 1 1.3E-02 2 1.3E-02
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		1 4 1 3.8E-02 2 2.0E-02
CUI: C1301357
Disease: Acute Leukemia of Ambiguous Lineage
Acute Leukemia of Ambiguous Lineage 		1 0 1 3.8E-02 0 0
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		6 0 1 3.2E-02 0 0
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		4 0 2 7.1E-02 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 3.8E-02 1 1.0E-02
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		4 0 1 3.4E-02 0 0
CUI: C0278804
Disease: Adenocarcinoma of duodenum
Adenocarcinoma of duodenum 		1 0 1 3.8E-02 0 0