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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 3.0E-03 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 1 3.3E-03 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 1 3.7E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 6.1E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.2E-03 1 4.0E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 1 1.2E-02 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.8E-02 0 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 2.2E-02 0 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 0 1 2.4E-02 0 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 0 1 3.1E-02 0 0
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 0 1 3.6E-02 0 0
CUI: C0025202
Disease: melanoma
melanoma 		25 129 1 3.7E-02 1 4.2E-04
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 3.8E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 0 1 4.0E-02 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 3 4.5E-02 647 8.1E-02
CUI: C0018681
Disease: Headache
Headache 		19 0 1 4.8E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 5.0E-02 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 80 1 5.0E-02 2 8.5E-04
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		17 0 1 5.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 5.6E-02 0 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 2 5.7E-02 54 2.1E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 37 1 5.9E-02 1 4.3E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		15 0 1 5.9E-02 0 0
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		12 72 1 7.1E-02 2 8.5E-04