Source: CURATED ×
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: C4021762
Disease: Abnormality of the cerebrum
Abnormality of the cerebrum 		1 0 1 0.50 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		8 13 1 0.11 1 1.6E-03
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		16 0 1 5.9E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 1 7.5E-03 15 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		447 6 2 4.5E-03 3 4.9E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0 350 0 0 213 0.28
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0 9 0 0 1 1.6E-03
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0 2 0 0 1 1.6E-03
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0 22 0 0 1 1.6E-03
CUI: C0001916
Disease: Albinism
Albinism 		0 18 0 0 1 1.6E-03
CUI: C0002170
Disease: Alopecia
Alopecia 		0 341 0 0 1 1.1E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0 27 0 0 1 1.6E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0 25 0 0 1 1.6E-03
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0 43 0 0 2 3.1E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0 181 0 0 3 3.8E-03
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0 41 0 0 1 1.5E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0 49 0 0 2 3.0E-03
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		0 11 0 0 1 1.6E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0 470 0 0 4 3.7E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0 58 0 0 1 1.5E-03
CUI: C0008489
Disease: Chorea
Chorea 		0 14 0 0 1 1.6E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0 402 0 0 2 2.0E-03
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0 253 0 0 1 1.2E-03
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0 12 0 0 2 3.2E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0 856 0 0 2 1.4E-03