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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 120 0.23 1 2.2E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 136 0.20 4 6.2E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum
182 25 66 0.20 2 5.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 126 0.19 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
149 5 56 0.18 1 5.0E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
211 25 65 0.18 1 2.5E-02
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
95 8 47 0.18 1 4.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 39 75 0.18 1 1.9E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 0 85 0.17 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
91 16 44 0.17 1 3.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
497 70 100 0.16 4 4.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 29 89 0.16 2 4.7E-02
Congenital ear anomaly NOS (disorder)
137 0 48 0.16 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head
154 0 50 0.16 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 95 0.16 4 5.3E-02
CUI: C0038379
Disease: Strabismus
Strabismus
716 89 121 0.15 4 4.0E-02
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
104 0 41 0.15 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
187 0 51 0.14 0 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
410 0 79 0.14 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 81 0.14 1 1.9E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
427 0 80 0.14 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
129 11 42 0.14 2 8.0E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
384 96 73 0.14 3 2.8E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 80 114 0.14 1 1.1E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
139 9 43 0.14 1 4.2E-02