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: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		11 51 7 0.17 34 0.15
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 7 0.17 2 7.1E-03
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		7 34 6 0.16 30 0.14
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 27 6 0.14 13 5.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 141 8 0.14 43 0.14
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		11 34 6 0.14 9 3.8E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		11 19 6 0.14 9 4.1E-02
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		6 17 5 0.13 16 7.5E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 5 0.13 13 5.8E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 5 0.13 7 3.2E-02
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 5 0.13 2 8.3E-03
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 80 6 0.12 22 8.2E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 6 0.12 2 8.1E-03
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		10 45 5 0.12 30 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		11 28 5 0.12 5 2.1E-02
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		12 54 5 0.11 45 0.20
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 8 0.11 11 3.7E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 5 0.11 1 4.4E-03
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 6 4 0.11 1 4.6E-03
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 4 0.11 2 9.3E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		5 22 4 0.11 3 1.3E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 6 0.11 1 4.2E-03
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 4 1.0E-01 1 4.6E-03
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 0 4 9.8E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 5 9.4E-02 1 4.3E-03