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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 6 0.50 25 0.16
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 0 3 0.43 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		2 0 2 0.33 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 8 2 0.33 3 8.1E-02
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 9 2 0.33 2 5.1E-02
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 0 2 0.33 0 0
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		2 0 2 0.33 0 0
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 4 0.31 12 0.13
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 0 3 0.30 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 17 2 0.29 3 6.5E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 2 0.29 1 2.6E-02
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 2 0.29 1 2.6E-02
CUI: C0027960
Disease: Nevus
Nevus 		4 0 2 0.25 0 0
CUI: C1853638
Disease: Broad neck
Broad neck 		4 10 2 0.25 3 7.7E-02
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		5 5 2 0.22 1 2.8E-02
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 0 2 0.22 0 0
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		11 51 3 0.21 3 3.7E-02
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 2 0.20 2 3.6E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 0 2 0.20 0 0
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 2 0.20 9 0.12
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 2 0.20 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		6 6 2 0.20 1 2.7E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 4 0.19 4 6.1E-02
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 17 2 0.18 1 2.1E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 0 3 0.18 0 0