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 4.0E-02 34 5.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 5 8.2E-02 5 5.3E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 8 2.2E-02 2 2.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 6 1.6E-02 3 4.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 7 2.1E-02 4 6.1E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 3 4.7E-02 3 4.9E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 7 1.0E-01 35 6.3E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 9 3.4E-02 2 4.0E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 12 0.20 69 0.17
CUI: C0349588
Disease: Short stature
Short stature 		190 292 5 2.2E-02 2 4.5E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 19 0.38 101 0.38
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 19 0.34 97 0.36
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 2 5.1E-02 3 8.7E-03
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 20 0.42 93 0.38
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 179 15 0.30 85 0.34
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		2 157 1 2.6E-02 22 7.6E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 7 0.16 6 2.0E-02
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 152 14 0.28 76 0.33
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		21 142 13 0.28 72 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 141 8 0.14 31 0.12
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 141 16 0.33 78 0.36
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		22 135 11 0.22 59 0.26
CUI: C0025202
Disease: melanoma
melanoma 		25 129 13 0.26 32 0.13
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		7 124 3 7.1E-02 2 7.3E-03
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 118 8 0.19 56 0.26