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: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		9 0 3 0.18 0 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		9 14 3 0.18 5 6.1E-02
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		30 188 6 0.17 2 7.7E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 7 0.17 2 7.1E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 6 0.17 3 1.0E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 2 0.17 1 1.3E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 4 0.17 4 4.5E-02
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		3 3 2 0.17 1 1.3E-02
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 2 0.17 1 1.3E-02
CUI: C0025202
Disease: melanoma
melanoma 		25 129 5 0.16 1 5.0E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 3 0.16 9 0.11
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 152 5 0.16 1 4.5E-03
CUI: C0521525
Disease: Short neck
Short neck 		26 29 5 0.16 4 4.1E-02
CUI: C0027960
Disease: Nevus
Nevus 		4 7 2 0.15 2 2.6E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 2 0.15 8 5.9E-02
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		4 4 2 0.15 1 1.3E-02
CUI: C1853638
Disease: Broad neck
Broad neck 		4 10 2 0.15 8 0.11
CUI: C0002170
Disease: Alopecia
Alopecia 		5 0 2 0.14 0 0
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		13 118 3 0.14 2 1.1E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 468 5 0.14 5 9.3E-03
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		5 8 2 0.14 1 1.3E-02
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		5 0 2 0.14 0 0
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		5 0 2 0.14 0 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		5 5 2 0.14 2 2.6E-02
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		5 6 2 0.14 2 2.6E-02