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 6 1.5E-02 6 8.6E-04
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		2 2633 1 3.0E-03 3 9.3E-04
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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		6 992 2 5.9E-03 2 1.2E-03
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1 764 1 3.0E-03 2 1.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 200 0.42 255 0.27
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 103 0.19 15 1.4E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 8 2.2E-02 4 3.7E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 442 4 1.1E-02 1 9.5E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 4 1.1E-02 1 9.6E-04
CUI: C0036572
Disease: Seizures
Seizures 		237 417 78 0.16 14 1.4E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 86 0.19 9 8.9E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 2.7E-03 2 2.0E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 162 0.40 213 0.28
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 332 3 8.4E-03 1 1.1E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		4 320 2 5.9E-03 4 4.3E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 52 0.11 12 1.3E-02
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		2 291 1 3.0E-03 2 2.2E-03
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		2 265 1 3.0E-03 2 2.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 16 3.9E-02 1 1.2E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 56 0.13 12 1.4E-02
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		3 242 3 9.0E-03 2 2.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 88 0.22 75 9.7E-02
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		1 233 1 3.0E-03 1 1.2E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 7 1.7E-02 1 1.2E-03