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: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 26 60 0.20 1 2.9E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 39 0.19 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 35 0.18 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 44 0.18 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 44 0.18 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 38 0.18 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 33 0.17 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 43 0.16 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 25 0.16 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 26 32 0.16 3 9.4E-02
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 31 0.16 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 25 0.16 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 33 0.15 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 34 0.15 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 0 29 0.14 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 45 0.14 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 21 0.14 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 20 0.14 1 8.8E-03
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 13 41 0.14 1 4.8E-02
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 24 0.14 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 74 0.14 2 4.5E-02
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 25 0.13 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 20 0.13 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 18 0.13 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 54 0.13 0 0