Source: BEFREE ×
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: C2267233
Disease: Neonatal Hypotonia
Neonatal 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: C0010691
Disease: Cystinuria
Cystinuria 		20 0 4 8.5E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		53 0 6 7.7E-02 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		11 0 3 7.7E-02 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		13 0 3 7.3E-02 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		17 0 3 6.7E-02 0 0
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		2 0 2 6.5E-02 0 0
CUI: C4755274
Disease: Atypical hypotonia cystinuria syndrome
Atypical hypotonia cystinuria syndrome 		4 0 2 6.1E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		23 0 3 5.9E-02 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		5 0 2 5.9E-02 0 0
CUI: C1850625
Disease: Native American myopathy
Native American myopathy 		6 1 2 5.7E-02 1 0.20
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		8 0 2 5.4E-02 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		8 0 2 5.4E-02 0 0
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		8 0 2 5.4E-02 0 0
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		9 0 2 5.3E-02 0 0
CUI: C3553774
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
INTERSTITIAL NEPHRITIS, KARYOMEGALIC 		9 0 2 5.3E-02 0 0
CUI: C1833213
Disease: Hyperferritinemia, hereditary, with congenital cataracts
Hyperferritinemia, hereditary, with congenital cataracts 		10 0 2 5.1E-02 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 3 5.1E-02 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		11 0 2 5.0E-02 0 0
CUI: C0085662
Disease: Macrocytosis
Macrocytosis 		13 0 2 4.8E-02 0 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		80 0 5 4.7E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		14 0 2 4.7E-02 0 0
CUI: C0234366
Disease: Ataxic
Ataxic 		15 0 2 4.5E-02 0 0