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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 1 7.6E-03 1 2.1E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 1 9.1E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 9.4E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 1.2E-02 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 1.2E-02 0 0
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 0 1 1.2E-02 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		37 0 1 1.3E-02 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 0 1 1.3E-02 0 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 0 1 1.3E-02 0 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		33 0 1 1.3E-02 0 0
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 1 1.4E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 1 1.4E-02 1 1.1E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 1 1.4E-02 1 9.7E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 0 1 1.4E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 1.4E-02 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		28 74 1 1.4E-02 2 1.5E-02
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 1 1.4E-02 1 1.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		26 0 1 1.4E-02 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 32 1 1.4E-02 1 1.1E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		26 0 1 1.4E-02 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 0 1 1.4E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 1 1.4E-02 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 0 1 1.5E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 0 1 1.5E-02 0 0
CUI: C0025202
Disease: melanoma
melanoma 		25 0 1 1.5E-02 0 0