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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 0 1 8.3E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 1 9.2E-03 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.0E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.2E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 44 1 1.2E-02 1 1.1E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 0 1 1.2E-02 0 0
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 0 1 1.3E-02 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 0 1 1.3E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.3E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 1.3E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 1.4E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 1 1.4E-02 2 2.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 1 1.4E-02 1 1.2E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 1 1.4E-02 1 1.1E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 1 1.4E-02 1 1.9E-03
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 1.4E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 1 1.4E-02 1 1.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 0 1 1.4E-02 0 0
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 0 1 1.4E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		27 34 1 1.4E-02 1 1.2E-02
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 0 1 1.5E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 1 1.5E-02 1 1.2E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		26 0 1 1.5E-02 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 1 1.5E-02 1 4.5E-03
CUI: C0025202
Disease: melanoma
melanoma 		25 0 1 1.5E-02 0 0