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: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 2.3E-02 0 0
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		7 0 1 3.0E-02 0 0
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		1 0 1 3.7E-02 0 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1 0 1 3.7E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 3 1.1E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 1.4E-02 0 0
CUI: C0037284
Disease: Skin lesion
Skin lesion 		1 0 1 3.7E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 2.1E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 2 2.3E-02 0 0
CUI: C0039538
Disease: Teratoma
Teratoma 		2 0 1 3.6E-02 0 0
CUI: C0039621
Disease: Tetany
Tetany 		1 0 1 3.7E-02 0 0
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		1 0 1 3.7E-02 0 0
CUI: C0041657
Disease: Unconscious State
Unconscious State 		1 0 1 3.7E-02 0 0
CUI: C0042571
Disease: Vertigo
Vertigo 		13 0 1 2.6E-02 0 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		3 0 1 3.4E-02 0 0
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		2 0 1 3.6E-02 0 0
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		5 0 1 3.2E-02 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		14 0 1 2.5E-02 0 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		7 0 1 3.0E-02 0 0
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		5 0 1 3.2E-02 0 0
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		3 0 1 3.4E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 0 2 3.3E-02 0 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 0 1 2.0E-02 0 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		1 0 1 3.7E-02 0 0
CUI: C0151908
Disease: Dry skin
Dry skin 		14 0 1 2.5E-02 0 0