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 5 2.3E-02 2 3.0E-04
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		3 2273 1 6.2E-03 1 4.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 3 1.6E-02 1 9.6E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 56 0.13 12 1.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 66 0.15 29 3.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 91 0.24 103 0.16
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 1 5.3E-03 1 1.4E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 4 2.1E-02 1 1.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 58 0.17 70 0.12
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 62 0.20 63 0.11
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 29 7.9E-02 2 3.4E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		4 320 1 6.1E-03 4 7.1E-03
CUI: C0349588
Disease: Short stature
Short stature 		190 292 44 0.14 58 0.12
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		2 291 1 6.2E-03 4 7.5E-03
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		4 264 2 1.2E-02 2 3.9E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 13 5.5E-02 10 2.0E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 34 0.12 5 1.0E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 4 1.7E-02 6 1.3E-02
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 1 6.2E-03 1 2.3E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 33 0.13 23 5.5E-02
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		2 175 1 6.2E-03 1 2.4E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 5 2.8E-02 4 9.6E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 39 0.16 27 7.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 1 5.8E-03 2 5.0E-03
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		6 138 1 6.1E-03 1 2.6E-03