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: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		35 0 12 9.1E-02 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 18 9.0E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 27 8.8E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 22 8.2E-02 0 0
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		24 0 10 8.1E-02 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 54 8.1E-02 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 18 7.9E-02 0 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		15 0 9 7.8E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 27 7.8E-02 0 0
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		47 0 11 7.6E-02 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 0 10 7.6E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 12 7.5E-02 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 9 7.3E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		337 0 30 7.2E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 0 20 7.1E-02 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 15 7.1E-02 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 8 7.0E-02 0 0
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 0 8 7.0E-02 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 9 6.9E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 16 6.9E-02 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 8 6.9E-02 0 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		16 2 8 6.8E-02 1 2.2E-02
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 9 6.8E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 18 6.7E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 14 6.7E-02 0 0