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 0 1 4.8E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 4 1.6E-02 0 0
CUI: C0002170
Disease: Alopecia
Alopecia 		5 0 2 0.12 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		13 0 1 4.0E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		3 0 1 6.7E-02 0 0
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		4 0 1 6.2E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 17 2 0.11 1 1.0E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 2 4.2E-02 2 1.6E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 118 5 0.24 10 5.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 3 7.9E-02 1 1.1E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 1 3.7E-02 0 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 96 6 0.26 8 4.7E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		12 66 3 0.14 5 3.5E-02
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		3 0 2 0.14 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 2 5.0E-02 1 1.8E-03
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		2 0 1 7.1E-02 0 0
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		16 69 4 0.16 4 2.7E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 7.7E-02 0 0
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		2 3 1 7.1E-02 1 1.2E-02
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps 		2 0 1 7.1E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 3 5.7E-02 6 3.4E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 10 0.29 25 9.2E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.9E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 2 4.3E-02 1 7.8E-03