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: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 3.7E-03 3 4.0E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 3.7E-03 0 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		29 0 1 3.8E-03 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 0 1 3.8E-03 0 0
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		27 0 1 3.8E-03 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 52 1 3.8E-03 1 2.5E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 52 1 3.8E-03 1 2.5E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 157 1 3.9E-03 1 2.0E-03
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 101 1 3.9E-03 1 2.2E-03
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		21 0 1 3.9E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 30 1 3.9E-03 1 2.6E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 105 1 3.9E-03 2 4.4E-03
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		17 0 1 4.0E-03 0 0
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		17 0 1 4.0E-03 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 0 1 4.0E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		14 0 1 4.0E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		14 0 1 4.0E-03 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		14 0 1 4.0E-03 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		14 0 1 4.0E-03 0 0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		14 0 1 4.0E-03 0 0
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		13 0 1 4.0E-03 0 0
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		13 0 1 4.0E-03 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		13 0 1 4.0E-03 0 0
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		13 0 1 4.0E-03 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		13 0 1 4.0E-03 0 0