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: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration
0 6 0 0 1 3.1E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0 25 0 0 1 2.9E-03
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0 35 0 0 1 2.9E-03
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
0 28 0 0 1 2.9E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0 24 0 0 2 5.9E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0 77 0 0 1 2.6E-03
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis
0 5 0 0 1 3.1E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0 6385 0 0 116 1.8E-02
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
0 6 0 0 1 3.1E-03
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0 6 0 0 2 6.3E-03
Malignant neoplasm of floor of mouth
0 16 0 0 2 6.1E-03
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0 152 0 0 99 0.27
CUI: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers
0 1 0 0 1 3.2E-03
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe
0 1 0 0 1 3.2E-03
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor
0 2 0 0 2 6.3E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing
0 19 0 0 1 3.0E-03
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
0 11 0 0 11 3.5E-02
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis
0 2 0 0 1 3.2E-03
CUI: C0239234
Disease: Low set ears
Low set ears
0 64 0 0 1 2.6E-03
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome
0 8 0 0 2 6.2E-03
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
0 11 0 0 1 3.1E-03
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine
0 1 0 0 1 3.2E-03
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
0 19 0 0 1 3.0E-03
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0 99 0 0 86 0.26
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma
0 12 0 0 2 6.1E-03