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 0 1 2.4E-03 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 2.7E-03 2 2.0E-03
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 0 1 2.8E-03 0 0
CUI: C0011053
Disease: Deafness
Deafness 		23 0 1 2.8E-03 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		23 157 1 2.8E-03 1 1.3E-03
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 101 1 2.8E-03 1 1.4E-03
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 0 1 2.8E-03 0 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		17 2106 1 2.8E-03 3 1.1E-03
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		16 0 1 2.9E-03 0 0
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 2.9E-03 0 0
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		15 0 1 2.9E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		14 0 1 2.9E-03 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		14 0 1 2.9E-03 0 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		14 0 1 2.9E-03 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		14 0 1 2.9E-03 0 0
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		13 0 1 2.9E-03 0 0
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		13 0 1 2.9E-03 0 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		13 0 1 2.9E-03 0 0
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		12 0 1 2.9E-03 0 0
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		12 0 1 2.9E-03 0 0
CUI: C0002871
Disease: Anemia
Anemia 		11 0 1 2.9E-03 0 0
CUI: C0008489
Disease: Chorea
Chorea 		11 14 1 2.9E-03 1 1.6E-03
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		11 0 1 2.9E-03 0 0
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		11 0 1 2.9E-03 0 0
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		11 0 1 2.9E-03 0 0