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: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0 3 0 0 1 3.4E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 4.4E-03 1 1.4E-03
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 0 1 4.5E-03 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 0 1 4.6E-03 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 0 1 4.7E-03 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 52 1 4.7E-03 1 2.9E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 37 1 4.7E-03 1 3.0E-03
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 0 1 4.7E-03 0 0
CUI: C0011053
Disease: Deafness
Deafness 		23 0 1 4.7E-03 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 0 1 4.7E-03 0 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		21 46 1 4.8E-03 1 3.0E-03
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		21 24 1 4.8E-03 1 3.2E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 0 1 4.8E-03 0 0
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		20 0 1 4.8E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 30 1 4.8E-03 1 3.1E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 1 4.8E-03 2 6.2E-03
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		19 36 1 4.8E-03 1 3.1E-03
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 1 4.8E-03 1 3.2E-03
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 4.8E-03 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		18 0 1 4.8E-03 0 0
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 1 4.8E-03 1 3.1E-03
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		17 0 1 4.9E-03 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		17 0 1 4.9E-03 0 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		17 0 1 4.9E-03 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		17 18 1 4.9E-03 1 3.2E-03