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: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 11 0.35 0 0
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		6 0 4 0.12 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 6 8.7E-02 0 0
CUI: C0010691
Disease: Cystinuria
Cystinuria 		22 0 4 8.2E-02 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 14 7.5E-02 0 0
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 3 7.3E-02 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 0 3 7.3E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 6 6.8E-02 0 0
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		16 0 3 6.8E-02 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 3 6.8E-02 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 3 6.8E-02 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 5 5 6.8E-02 1 1.0E-01
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 4 6.7E-02 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 3 6.5E-02 0 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		18 0 3 6.5E-02 0 0
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		2 0 2 6.5E-02 0 0
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		2 0 2 6.5E-02 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 8 6.3E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 0 3 6.2E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 8 6.2E-02 0 0
CUI: C0426440
Disease: Large nostrils
Large nostrils 		4 0 2 6.1E-02 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 2 6.1E-02 0 0
CUI: C4755274
Disease: Atypical hypotonia cystinuria syndrome
Atypical hypotonia cystinuria syndrome 		4 0 2 6.1E-02 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 0 3 6.0E-02 0 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		22 0 3 6.0E-02 0 0