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: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 23 0.14 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 14 0.12 3 2.3E-02
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 21 0.12 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 16 0.12 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 30 0.12 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 42 0.12 1 2.1E-02
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 35 0.11 0 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		61 0 16 0.11 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 15 0.11 0 0
CUI: C0221365
Disease: Double ureter
Double ureter 		34 0 13 0.11 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 57 0.11 1 1.1E-02
CUI: C0003578
Disease: Apnea
Apnea 		262 0 35 0.11 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 49 0.11 1 1.7E-02
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 11 0.11 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 22 0.11 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 18 0.11 0 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 37 0.10 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 13 0.10 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 13 0.10 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 10 9.9E-02 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 37 9.9E-02 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 26 29 9.8E-02 1 2.0E-02
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 12 9.7E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 24 9.4E-02 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 10 9.2E-02 0 0