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: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		1 0 1 0.33 0 0
CUI: C3554538
Disease: Persistent lactic acidosis
Persistent lactic acidosis 		1 1 1 0.33 1 0.33
CUI: C4225638
Disease: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 		1 0 1 0.33 0 0
CUI: C4310661
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 		1 7 1 0.33 1 0.11
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		1 7 1 0.33 1 0.11
CUI: C0013570
Disease: Ecthyma, Contagious
Ecthyma, Contagious 		2 0 1 0.25 0 0
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		2 2 1 0.25 1 0.25
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		3 0 1 0.20 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 1 0.20 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 1 0.20 0 0
CUI: C1867006
Disease: Restricted neck movement due to contractures
Restricted neck movement due to contractures 		3 0 1 0.20 0 0
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		3 0 1 0.20 0 0
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		3 0 1 0.20 0 0
CUI: C1850855
Disease: Increased laxity of fingers
Increased laxity of fingers 		4 0 1 0.17 0 0
CUI: C0239574
Disease: Low grade fever
Low grade fever 		5 1 1 0.14 1 0.33
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		5 0 1 0.14 0 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		5 0 1 0.14 0 0
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		5 0 1 0.14 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 1 0.14 0 0
CUI: C4023422
Disease: Long palm
Long palm 		5 0 1 0.14 0 0
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		6 3 1 0.12 1 0.20
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		7 5 1 0.11 1 0.14
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		7 0 1 0.11 0 0
CUI: C4551860
Disease: Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 		7 0 1 0.11 0 0
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		8 0 1 1.0E-01 0 0