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: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 54 0.19 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 71 0.18 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 44 0.13 0 0
CUI: C0019825
Disease: Hoarseness
Hoarseness 		84 0 28 0.13 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 49 0.13 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 30 0.13 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 39 0.12 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 26 0.12 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		282 0 49 0.12 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 49 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 42 0.12 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 0 53 0.12 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 0 35 0.12 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 46 0.12 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 30 0.12 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 27 0.12 0 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		128 0 31 0.12 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 0 48 0.12 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 25 0.12 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 79 0.12 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 27 0.12 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 102 0.11 1 6.8E-03
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 47 0.11 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 28 0.11 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 26 0.11 0 0