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: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
180 0 64 0.13 0 0
Abnormality of the hypothalamus-pituitary axis
70 0 51 0.13 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 158 107 0.12 1 3.1E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
473 0 91 0.12 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 105 0.12 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 0 103 0.12 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
139 0 55 0.12 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
274 83 69 0.12 1 4.1E-03
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
337 0 74 0.11 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 0 121 0.11 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 0 72 0.11 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 0 93 0.11 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 0 103 0.10 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 89 0.10 1 4.2E-03
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
129 0 46 9.9E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly
75 0 41 9.8E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 0 71 9.7E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 0 97 9.7E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
384 96 67 9.6E-02 1 3.9E-03
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
216 0 51 9.3E-02 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
123 0 43 9.3E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 0 74 9.3E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
153 0 45 9.1E-02 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes
61 0 37 9.1E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
305 0 57 9.0E-02 0 0