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: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 9 0.50 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 10 0.45 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 9 0.45 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 9 0.45 0 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 8 0.44 0 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		9 0 8 0.42 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 8 0.42 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 9 0.32 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 11 0.26 0 0
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		19 0 7 0.23 0 0
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		25 0 8 0.23 0 0
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		29 0 8 0.21 0 0
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		6 0 4 0.20 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 8 0.20 0 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		15 2 5 0.18 1 0.50
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 10 0.17 0 0
CUI: C0399570
Disease: Mandibular condyle aplasia
Mandibular condyle aplasia 		3 0 3 0.17 0 0
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		17 0 5 0.17 0 0
CUI: C4021376
Disease: Cleft helix
Cleft helix 		3 0 3 0.17 0 0
CUI: C4021380
Disease: Abnormality of the crus of the helix
Abnormality of the crus of the helix 		3 0 3 0.17 0 0
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		4 0 3 0.16 0 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		4 0 3 0.16 0 0
CUI: C1865318
Disease: Abnormality of the temporomandibular joint
Abnormality of the temporomandibular joint 		4 0 3 0.16 0 0
CUI: C4024626
Disease: Aplasia/Hypoplasia of the external ear
Aplasia/Hypoplasia of the external ear 		4 0 3 0.16 0 0
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		4 0 3 0.16 0 0