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 4 1.6E-02 2 3.0E-04
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1 764 1 5.3E-03 3 2.8E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 52 0.11 12 1.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 44 9.1E-02 15 1.8E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 59 0.14 65 8.9E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 4 1.9E-02 6 8.0E-03
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 443 3 1.3E-02 1 1.4E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 3 1.3E-02 1 1.4E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 2 7.2E-03 1 1.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 36 9.2E-02 33 4.9E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 37 0.10 32 4.8E-02
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 4.4E-03 1 1.4E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 35 8.9E-02 7 1.1E-02
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 3 1.4E-02 1 1.7E-03
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		2 291 1 5.2E-03 1 1.7E-03
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		4 264 2 1.0E-02 1 1.8E-03
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		3 259 1 5.2E-03 1 1.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 12 4.5E-02 6 1.1E-02
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		1 255 1 5.3E-03 1 1.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 44 0.14 58 0.12
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 21 6.3E-02 1 1.9E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 3 1.1E-02 5 9.9E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 6 2.8E-02 3 5.9E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 9 4.1E-02 3 6.0E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 37 0.13 26 5.7E-02