Source: BEFREE ×
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: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		11 0 3 0.12 0 0
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		11 0 3 0.12 0 0
CUI: C2985524
Disease: Rhabdoid tumor predisposition syndrome
Rhabdoid tumor predisposition syndrome 		3 0 2 0.12 0 0
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		54 0 7 0.11 0 0
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		4 0 2 0.11 0 0
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		4 0 2 0.11 0 0
CUI: C1334271
Disease: Intraventricular Meningioma
Intraventricular Meningioma 		4 0 2 0.11 0 0
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		6 0 2 1.0E-01 0 0
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		42 0 5 9.4E-02 0 0
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		21 0 3 8.8E-02 0 0
CUI: C1518736
Disease: Ovarian Small Cell Carcinoma, Hypercalcemic Type
Ovarian Small Cell Carcinoma, Hypercalcemic Type 		9 0 2 8.7E-02 0 0
CUI: C0279765
Disease: Endometrial Clear Cell Adenocarcinoma
Endometrial Clear Cell Adenocarcinoma 		10 0 2 8.3E-02 0 0
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		11 0 2 8.0E-02 0 0
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		94 0 8 7.8E-02 0 0
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		12 0 2 7.7E-02 0 0
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		13 0 2 7.4E-02 0 0
CUI: C0279681
Disease: Bladder Squamous Cell Carcinoma
Bladder Squamous Cell Carcinoma 		13 0 2 7.4E-02 0 0
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		14 0 2 7.1E-02 0 0
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		16 0 2 6.7E-02 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		17 0 2 6.5E-02 0 0
CUI: C0016399
Disease: Epilepsy, Partial, Motor
Epilepsy, Partial, Motor 		1 0 1 6.2E-02 0 0
CUI: C0086196
Disease: Eczema, Infantile
Eczema, Infantile 		1 0 1 6.2E-02 0 0
CUI: C0155781
Disease: Thrombosed internal hemorrhoids
Thrombosed internal hemorrhoids 		1 0 1 6.2E-02 0 0
CUI: C0220998
Disease: Hypothalamic hypothyroidism
Hypothalamic hypothyroidism 		1 0 1 6.2E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		1 0 1 6.2E-02 0 0