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: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 3 3.7E-02 2 8.9E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		5 30 3 3.7E-02 2 8.1E-03
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		5 5 3 3.7E-02 2 9.0E-03
CUI: C4022758
Disease: Mild hearing impairment
Mild hearing impairment 		5 0 3 3.7E-02 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		6 56 3 3.7E-02 1 3.7E-03
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		7 53 3 3.7E-02 1 3.7E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		7 0 3 3.7E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		8 11 3 3.6E-02 2 8.8E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 44 4 3.5E-02 1 3.8E-03
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		10 145 3 3.5E-02 2 5.5E-03
CUI: C0086543
Disease: Cataract
Cataract 		13 13 3 3.4E-02 2 8.7E-03
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		17 18 3 3.3E-02 1 4.3E-03
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		18 61 3 3.2E-02 2 7.2E-03
CUI: C0011053
Disease: Deafness
Deafness 		23 0 3 3.1E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 3 3.0E-02 2 8.3E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 3 3.0E-02 5 1.3E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		27 0 3 2.9E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 8 2.8E-02 5 8.0E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 3 2.6E-02 3 1.0E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 4 2.6E-02 2 6.5E-03
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		2 1 2 2.6E-02 1 4.6E-03
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		2 2 2 2.6E-02 1 4.6E-03
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		2 0 2 2.6E-02 0 0
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		2 16 2 2.6E-02 2 8.6E-03
CUI: C1441613
Disease: Immune diffusion
Immune diffusion 		2 0 2 2.6E-02 0 0