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 3 3.3E-02 34 5.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 4 8.0E-02 4 4.2E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 4 1.1E-02 1 1.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 505 6 1.9E-02 2 3.1E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 2 3.8E-02 1 1.6E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 7 0.12 39 7.1E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 7 2.7E-02 2 4.0E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 13 0.28 99 0.27
CUI: C0349588
Disease: Short stature
Short stature 		190 292 5 2.4E-02 1 2.3E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 17 0.42 110 0.43
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 15 0.31 95 0.35
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 2 7.4E-02 3 8.8E-03
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 16 0.40 108 0.47
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 179 13 0.33 93 0.39
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 3 2.0E-02 1 3.2E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		2 157 1 3.7E-02 26 9.2E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 6 0.19 5 1.7E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		38 153 14 0.28 76 0.33
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		21 142 7 0.17 63 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 141 5 0.10 27 0.10
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 141 15 0.41 79 0.37
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		22 135 9 0.23 61 0.27
CUI: C0025202
Disease: melanoma
melanoma 		25 129 7 0.16 17 6.4E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 118 7 0.22 60 0.29
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 6 7.1E-02 4 1.5E-02