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: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		78 37 76 0.30 34 0.12
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 188 0.28 108 0.33
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 81 0.17 26 8.0E-02
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		119 43 55 0.17 16 5.2E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		190 75 60 0.16 24 7.2E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 28 43 0.14 16 5.4E-02
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		99 50 43 0.14 11 3.4E-02
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 42 0.12 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 12 42 0.11 1 3.4E-03
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 38 0.11 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 82 0.11 1 2.8E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 80 0.11 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 37 0.10 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 34 0.10 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 0 34 9.8E-02 0 0
CUI: C0000846
Disease: Agenesis
Agenesis 		161 44 37 9.8E-02 5 1.6E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 42 9.7E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 39 9.7E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 42 9.4E-02 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 58 9.3E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 54 9.2E-02 2 5.3E-03
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 13 38 9.2E-02 1 3.4E-03
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 0 33 9.1E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 57 9.1E-02 1 2.7E-03
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 82 9.1E-02 0 0