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: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 3 1.0E-01 5 2.6E-02
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		3 5 3 1.0E-01 4 2.1E-02
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 3 1.0E-01 5 2.6E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 5 9.8E-02 1 4.6E-03
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		15 0 4 9.8E-02 0 0
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		4 6 3 9.7E-02 1 5.2E-03
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 3 9.7E-02 1 5.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 5 9.4E-02 5 5.1E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		5 22 3 9.4E-02 3 1.4E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 8 9.3E-02 4 1.3E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		6 10 3 9.1E-02 1 5.1E-03
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 0 4 9.1E-02 0 0
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 3 9.1E-02 4 1.7E-02
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		6 0 3 9.1E-02 0 0
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		6 0 3 9.1E-02 0 0
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		7 124 3 8.8E-02 1 3.2E-03
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 3 8.8E-02 1 5.1E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 3 7.9E-02 1 4.9E-03
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		11 19 3 7.9E-02 8 4.0E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 6 7.5E-02 1 4.0E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 5 7.4E-02 11 4.0E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 4 7.3E-02 2 3.1E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 3 7.1E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 0 4 7.1E-02 0 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		15 28 3 7.1E-02 2 9.3E-03