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: C0018536
Disease: Hallux Valgus
Hallux Valgus 		5 0 1 2.5E-02 0 0
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 0 1 1.8E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.1E-03 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 8.1E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 3.7E-03 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		13 0 1 2.1E-02 0 0
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		2 0 1 2.7E-02 0 0
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum 		1 0 1 2.8E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 1 1.5E-02 0 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		3 0 1 2.6E-02 0 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		16 0 1 2.0E-02 0 0
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		9 0 1 2.3E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.3E-02 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 0 1 2.0E-02 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 1 1.7E-02 0 0
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		7 0 1 2.4E-02 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 0 1 8.8E-03 0 0
CUI: C1419610
Disease: RP23 gene
RP23 gene 		1 0 1 2.8E-02 0 0
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		1 0 1 2.8E-02 0 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		7 0 1 2.4E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		8 0 1 2.3E-02 0 0
CUI: C1844776
Disease: CONE-ROD DYSTROPHY, X-LINKED, 1
CONE-ROD DYSTROPHY, X-LINKED, 1 		1 0 1 2.8E-02 0 0
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		1 0 1 2.8E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 1.4E-02 0 0
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		1 0 1 2.8E-02 0 0