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: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 3.3E-03 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 1 3.3E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 3.3E-03 0 0
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		124 0 1 3.3E-03 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 3.3E-03 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 1 3.3E-03 1 9.7E-03
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 1 3.3E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 3.4E-03 0 0
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		118 0 1 3.4E-03 0 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		117 0 1 3.4E-03 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 1 3.4E-03 0 0
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		117 0 1 3.4E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 3.4E-03 0 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		114 0 1 3.4E-03 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 1 3.4E-03 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 1 3.4E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 1 3.4E-03 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 1 3.4E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 3.4E-03 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 1 3.5E-03 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 0 1 3.5E-03 0 0
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		681 0 3 3.5E-03 0 0
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		107 84 1 3.5E-03 1 6.8E-03
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 1 3.5E-03 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 1 3.5E-03 0 0