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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
237 0 147 0.15 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1825 553 356 0.15 3 4.5E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus
269 83 150 0.15 1 4.9E-03
CUI: C0036572
Disease: Seizures
Seizures
2152 553 395 0.15 1 1.5E-03
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
615 0 193 0.15 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 579 238 0.15 1 1.4E-03
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
714 56 204 0.15 1 5.6E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
850 135 215 0.14 1 3.9E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 182 0.14 1 5.7E-03
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
1037 0 238 0.14 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 183 0.14 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
194 0 132 0.14 0 0
CUI: C0085636
Disease: Photophobia
Photophobia
227 0 135 0.14 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 0 179 0.14 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 68 208 0.14 1 5.2E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
158 0 123 0.13 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
291 0 137 0.13 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 170 0.13 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 0 170 0.13 0 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
620 64 171 0.13 1 5.3E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
219 227 122 0.13 3 8.6E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
473 0 149 0.12 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
168 0 114 0.12 0 0
CUI: C0027092
Disease: Myopia
Myopia
490 167 148 0.12 4 1.4E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 30 139 0.12 1 6.5E-03