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: C0027092
Disease: Myopia
Myopia 		45 0 2 2.5E-02 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 2 2.5E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 1.3E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 5 6.6E-02 12 5.0E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 2 2.5E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 2 2.5E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 2 2.6E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 2 2.6E-02 0 0
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 7 1.0E-01 35 6.3E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 3 4.1E-02 1 4.9E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 0 2 2.7E-02 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 0 2 2.7E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 2 2.7E-02 1 5.0E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 2 2.7E-02 0 0
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 19 0.34 97 0.36
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 2 2.8E-02 1 5.0E-03
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 0 3 4.3E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 2 2.8E-02 1 5.0E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.4E-02 0 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 12 0.20 69 0.17
CUI: C0014877
Disease: Esotropia
Esotropia 		33 0 1 1.4E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 0 1 1.4E-02 0 0
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 19 0.38 101 0.38
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 2 3.0E-02 1 5.4E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 3 4.5E-02 2 1.1E-02