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: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		3 5 3 9.7E-02 2 9.1E-03
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 3 9.7E-02 6 2.8E-02
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		3 7 3 9.7E-02 2 9.0E-03
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		3 58 3 9.7E-02 4 1.5E-02
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		3 5 3 9.7E-02 5 2.3E-02
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 56 3 9.7E-02 4 1.5E-02
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 56 3 9.7E-02 4 1.5E-02
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 56 3 9.7E-02 4 1.5E-02
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		3 56 3 9.7E-02 4 1.5E-02
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 3 9.7E-02 6 1.5E-02
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 3 9.7E-02 6 2.8E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 4 9.5E-02 0 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 0 4 9.5E-02 0 0
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		4 98 3 9.4E-02 7 2.3E-02
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 6 3 9.4E-02 2 9.1E-03
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 3 9.4E-02 1 4.5E-03
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 3 9.4E-02 4 1.4E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 8 9.2E-02 5 1.5E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		5 22 3 9.1E-02 4 1.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 6 8.8E-02 12 3.9E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		6 10 3 8.8E-02 1 4.4E-03
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 3 8.8E-02 9 3.5E-02
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		6 6 3 8.8E-02 1 4.5E-03
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		6 0 3 8.8E-02 0 0
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 3 8.6E-02 1 4.5E-03