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: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 9 0.64 53 0.31
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 6 0.50 25 0.16
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 4 0.33 5 3.2E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 4 0.33 24 0.12
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 7 0.29 18 0.10
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 25 4 0.29 4 2.3E-02
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 4 0.29 23 0.13
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		11 51 5 0.28 6 3.0E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 82 5 0.25 8 3.5E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 17 3 0.25 11 6.9E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 3 0.25 2 1.3E-02
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 3 0.25 2 1.3E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 5 0.24 3 1.8E-02
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 8 0.24 6 1.8E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		15 76 5 0.23 5 2.2E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 6 0.22 3 1.7E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		6 17 3 0.20 2 1.2E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		6 6 3 0.20 2 1.3E-02
CUI: C4225426
Disease: THYROID CANCER, NONMEDULLARY, 2
THYROID CANCER, NONMEDULLARY, 2 		6 12 3 0.20 2 1.2E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 8 0.20 5 1.4E-02
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 7 0.19 5 1.4E-02
CUI: C0025202
Disease: melanoma
melanoma 		25 129 6 0.19 7 2.5E-02
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 152 6 0.19 5 1.7E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 6 0.19 4 2.2E-02
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		7 8 3 0.19 1 6.3E-03