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 6.5E-02 58 8.9E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 6 0.11 5 4.9E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 9 2.5E-02 2 2.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.7E-02 3 3.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 8 2.5E-02 4 5.6E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 4 7.1E-02 3 4.4E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 7 0.11 51 8.5E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 5 2.1E-02 1 1.6E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 9 3.5E-02 3 5.3E-03
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		1 332 1 3.2E-02 4 7.4E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 16 0.33 127 0.32
CUI: C0349588
Disease: Short stature
Short stature 		190 292 6 2.8E-02 3 5.9E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 21 0.45 130 0.44
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 3 9.7E-02 6 1.5E-02
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 23 0.61 132 0.49
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 179 18 0.45 121 0.44
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		2 157 1 3.1E-02 37 0.11
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		1 154 1 3.2E-02 3 8.2E-03
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 7 0.19 5 1.4E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		38 153 19 0.38 101 0.38
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 152 17 0.42 110 0.43
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		21 142 12 0.30 81 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 141 7 0.14 45 0.14
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 141 15 0.36 96 0.37
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		22 135 12 0.29 90 0.34