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: C0027063
Disease: Myoclonic disorder
Myoclonic disorder 		1 0 1 1.00 0 0
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		12 0 1 8.3E-02 0 0
CUI: C0158945
Disease: Congenital cytomegalovirus infection
Congenital cytomegalovirus infection 		29 0 1 3.4E-02 0 0
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease 		29 0 1 3.4E-02 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 0 1 3.1E-02 0 0
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		52 0 1 1.9E-02 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 1.7E-02 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.3E-02 0 0
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		81 0 1 1.2E-02 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 1.1E-02 0 0
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		95 0 1 1.1E-02 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 1 1.0E-02 0 0
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		100 0 1 1.0E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 8.9E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 7.8E-03 0 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		146 0 1 6.8E-03 0 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		148 0 1 6.8E-03 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 1 6.3E-03 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 1 5.9E-03 0 0
CUI: C3887499
Disease: Renal cyst
Renal cyst 		170 0 1 5.9E-03 0 0
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 1 5.3E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		190 0 1 5.3E-03 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 0 1 5.0E-03 0 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 0 1 4.8E-03 0 0
CUI: C0010709
Disease: Cyst
Cyst 		221 0 1 4.5E-03 0 0