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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 154 0.16 3 2.0E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 68 0.16 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		172 0 61 0.16 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 62 0.15 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 17 66 0.15 1 3.1E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 80 0.15 1 2.7E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 73 0.15 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 60 0.15 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 131 0.15 2 2.1E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 10 76 0.15 1 4.0E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 47 0.15 1 3.2E-02
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 56 0.15 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 57 0.15 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 76 0.14 3 5.4E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 51 0.14 1 2.8E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 48 0.14 2 8.3E-02
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 4 42 0.14 1 5.3E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 49 0.14 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 12 58 0.14 2 7.7E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 87 0.14 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 65 0.14 0 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 0 57 0.14 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 57 0.14 3 9.7E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 87 0.14 1 1.6E-03
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 60 0.14 1 3.2E-02