SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GermlineCausalMutation disease ORPHANET
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CTD_human
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 Biomarker group HPO
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.100 Biomarker disease HPO
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0020649
Disease: Hypotension
Hypotension 		0.100 Biomarker phenotype HPO
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0028961
Disease: Oliguria
Oliguria 		0.100 Biomarker phenotype HPO
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		0.100 Biomarker disease HPO
CUI: C0085605
Disease: Liver Failure
Liver Failure 		0.100 Biomarker disease HPO
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		0.100 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO