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: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 1.7E-03
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 1.7E-03
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		0 1 0 0 1 1.7E-03
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 1.7E-03
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 1.7E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 45 1 2.7E-03 1 1.6E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 1 2.8E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 0 1 2.8E-03 0 0
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		19 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 2 7.5E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 2.9E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		14 0 1 2.9E-03 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		14 0 1 2.9E-03 0 0
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		13 0 1 2.9E-03 0 0
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		13 37 1 2.9E-03 1 1.6E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		12 0 1 2.9E-03 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		12 21 1 2.9E-03 1 1.7E-03
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		12 0 1 2.9E-03 0 0
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		11 0 1 2.9E-03 0 0
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		11 28 1 2.9E-03 1 1.7E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		11 0 1 2.9E-03 0 0
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		11 0 1 2.9E-03 0 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		11 13 1 2.9E-03 1 1.7E-03
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		11 0 1 2.9E-03 0 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		10 0 1 2.9E-03 0 0