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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 1.1E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 1.2E-02 0 0
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 1.2E-02 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 1 1.2E-02 1 6.9E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 45 1 1.3E-02 1 1.0E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 0 1 1.3E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 1 1.3E-02 1 1.1E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 2 1.4E-02 1 5.5E-03
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 1 1.4E-02 1 1.1E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		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: C0027651
Disease: Neoplasms
Neoplasms 		26 0 1 1.4E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 33 1 1.4E-02 2 2.4E-02
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 1 1.4E-02 0 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 1 1.4E-02 1 1.3E-02
CUI: C0028754
Disease: Obesity
Obesity 		24 42 1 1.5E-02 1 1.1E-02
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 1 1.5E-02 1 1.1E-02
CUI: C0011053
Disease: Deafness
Deafness 		23 0 1 1.5E-02 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		23 0 1 1.5E-02 0 0
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		22 0 1 1.5E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 2 1.5E-02 0 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		21 24 1 1.5E-02 1 1.3E-02
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		20 0 1 1.6E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 1 1.6E-02 1 1.2E-02