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: C1411006
Disease: Finger contracture
Finger contracture 		1 0 1 0.11 0 0
CUI: C1836447
Disease: Nemaline myopathy 4
Nemaline myopathy 4 		1 9 1 0.11 4 0.27
CUI: C1848473
Disease: Whistling appearance
Whistling appearance 		1 0 1 0.11 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 2 0.11 0 0
CUI: C1860309
Disease: Chin with H-shaped crease
Chin with H-shaped crease 		1 0 1 0.11 0 0
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		1 0 1 0.11 0 0
CUI: C2750413
Disease: Cap Myopathy, Tpm2-Related
Cap Myopathy, Tpm2-Related 		1 0 1 0.11 0 0
CUI: C3554046
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4
LETHAL CONGENITAL CONTRACTURE SYNDROME 4 		1 0 1 0.11 0 0
CUI: C3807907
Disease: CAP MYOPATHY 2
CAP MYOPATHY 2 		1 3 1 0.11 1 8.3E-02
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		1 0 1 0.11 0 0
CUI: C4023625
Disease: Absence of stomach bubble on fetal sonography
Absence of stomach bubble on fetal sonography 		1 0 1 0.11 0 0
CUI: C4025173
Disease: Arthrogryposis-like hand anomaly
Arthrogryposis-like hand anomaly 		1 0 1 0.11 0 0
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		1 0 1 0.11 0 0
CUI: C4476577
Disease: Incomitant strabismus
Incomitant strabismus 		1 0 1 0.11 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 8 0.11 0 0
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		12 0 2 0.11 0 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		45 0 5 0.10 0 0
CUI: C0270932
Disease: Paraneoplastic Polyneuropathy
Paraneoplastic Polyneuropathy 		2 0 1 1.0E-01 0 0
CUI: C0857276
Disease: Patellar subluxation
Patellar subluxation 		2 0 1 1.0E-01 0 0
CUI: C1849575
Disease: Absence of labia majora
Absence of labia majora 		2 0 1 1.0E-01 0 0
CUI: C1865119
Disease: Progressive ventriculomegaly
Progressive ventriculomegaly 		2 0 1 1.0E-01 0 0
CUI: C1969655
Disease: LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 		2 0 1 1.0E-01 0 0
CUI: C1970777
Disease: Abnormally folded helix
Abnormally folded helix 		2 0 1 1.0E-01 0 0
CUI: C3805450
Disease: Calf muscle hypoplasia
Calf muscle hypoplasia 		2 0 1 1.0E-01 0 0
CUI: C4021073
Disease: Morphological abnormality of the gastrointestinal tract
Morphological abnormality of the gastrointestinal tract 		2 0 1 1.0E-01 0 0