SLC25A1, solute carrier family 25 member 1, 6576

N. diseases: 168; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 Biomarker disease BEFREE The characteristic clinical features in the earlier tested cases were nystagmus and fistula sign in CTP test-positive cases in category 1, and streaming water-like tinnitus in those in categories 2, 3 and 4. 28368720 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.110 GeneticVariation disease CLINVAR
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.110 GeneticVariation disease BEFREE This study investigated whether single nucleotide polymorphisms (SNPs) in human choline kinase A (CHKA) gene and CTP:phosphocholine cytidylytransferase (PCYT1A) gene were risk factors for spina bifida. 17184542 2006
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 GeneticVariation disease BEFREE Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. 23393310 2013
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 GeneticVariation disease CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 GeneticVariation disease CLINVAR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation disease CLINVAR
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.100 Biomarker disease HPO
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.100 Biomarker disease HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO