Source: ALL
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: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 12 35 9.0E-02 1 3.4E-03
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 40 48 8.8E-02 1 3.1E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 46 8.6E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 59 8.6E-02 2 5.8E-03
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 0 31 8.5E-02 0 0
CUI: C0302142
Disease: Deformity
Deformity 		350 26 47 8.4E-02 3 9.8E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 105 8.4E-02 3 8.5E-03
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 80 48 8.4E-02 1 2.8E-03
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 42 8.3E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 41 8.2E-02 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 27 8.1E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 51 8.1E-02 1 3.1E-03
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 23 8.1E-02 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 29 8.0E-02 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 27 8.0E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 81 7.9E-02 1 2.4E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 35 7.9E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 28 7.9E-02 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 47 7.8E-02 0 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		85 13 24 7.6E-02 2 6.8E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 31 7.6E-02 2 6.7E-03
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 28 7.5E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 34 7.4E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 67 7.4E-02 1 2.7E-03
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 24 7.3E-02 0 0