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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 3 2.4E-02 1 1.5E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		6 992 1 1.5E-02 9 8.4E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 20 5.3E-02 2 2.9E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 27 7.3E-02 13 2.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 28 8.3E-02 24 4.2E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 2 2.2E-02 1 1.8E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 442 1 1.2E-02 6 1.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		237 417 26 9.5E-02 22 4.5E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 12 4.6E-02 4 8.0E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 1.0E-02 2 4.1E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 21 7.5E-02 1 2.3E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		4 320 1 1.5E-02 1 2.4E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 2 2.1E-02 1 2.5E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 17 7.2E-02 11 2.9E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 7 4.9E-02 1 2.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 16 7.7E-02 15 4.6E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 2 1.4E-02 2 6.5E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 4 4.4E-02 1 3.3E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 2 2.0E-02 1 3.3E-03
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		1 201 1 1.6E-02 2 6.9E-03
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 1 1.5E-02 2 7.1E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 10 5.6E-02 3 1.1E-02
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 4 4.5E-02 1 3.6E-03
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1 179 1 1.6E-02 1 3.7E-03
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 179 3 3.4E-02 1 3.7E-03