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: C0423757
Disease: Thin skin
Thin skin
77 4 1 1.3E-02 1 0.20
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
81 21 1 1.2E-02 1 4.5E-02
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
82 0 1 1.2E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 16 1 1.2E-02 1 5.9E-02
CUI: C0578038
Disease: Thin lips
Thin lips
99 8 1 1.0E-02 1 0.11
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
109 0 1 9.2E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
112 0 1 8.9E-03 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
121 8 1 8.3E-03 1 0.11
CUI: C1849089
Disease: Broad forehead
Broad forehead
133 0 1 7.5E-03 0 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
151 0 1 6.6E-03 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
152 0 1 6.6E-03 0 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
160 246 1 6.3E-03 1 4.0E-03
CUI: C0026034
Disease: Microstomia
Microstomia
171 9 1 5.8E-03 1 1.0E-01
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
171 0 1 5.8E-03 0 0
CUI: C0152421
Disease: Macrotia
Macrotia
188 18 1 5.3E-03 1 5.3E-02
CUI: C0011334
Disease: Dental caries
Dental caries
191 0 1 5.2E-03 0 0
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
196 0 1 5.1E-03 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
210 32 1 4.8E-03 1 3.0E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
216 16 1 4.6E-03 1 5.9E-02
CUI: C0015967
Disease: Fever
Fever
239 0 1 4.2E-03 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
250 43 1 4.0E-03 1 2.3E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
252 0 1 4.0E-03 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
259 35 1 3.9E-03 1 2.8E-02
CUI: C1854114
Disease: Short nose
Short nose
265 0 1 3.8E-03 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
266 0 1 3.8E-03 0 0