SLC13A5 (solute carrier family 13 member 5)

Gene

• Entrez ID: 284111
• Gene name: Solute carrier family 13 member 5
• Gene symbol: SLC13A5
• Synonyms (NCBI Gene): DEE25, EIEE25, INDY, NACT, mIndy
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144332569	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs150203483	C>T	Pathogenic	Stop gained, coding sequence variant
rs548065551	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777577	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs587777578	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, 3 prime UTR variant
rs730882222	A>C	Likely-pathogenic	Intron variant, splice donor variant
rs748950933	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs754553205	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs761917087	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs773770609	G>A	Pathogenic	Stop gained, coding sequence variant
rs863225447	->ACTTTCTCCTG	Pathogenic	Coding sequence variant, frameshift variant
rs863225448	C>G	Pathogenic	Missense variant, intron variant, 3 prime UTR variant, coding sequence variant
rs966681982	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517820	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518298	C>T	Likely-pathogenic	Intron variant
rs1057518299	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1057519449	A>G	Likely-pathogenic	3 prime UTR variant, coding sequence variant, intron variant, missense variant
rs1202091819	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1211773372	A>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1555541483	C>T	Likely-pathogenic	Splice donor variant
rs1555541486	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555543400	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1597653264	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, 3 prime UTR variant
rs1597657030	C>T	Likely-pathogenic	Splice acceptor variant
rs1597676610	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1597676674	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597677742	C>T	Likely-pathogenic	Splice acceptor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1352508	hsa-miR-1207-5p	CLIP-seq
MIRT1352509	hsa-miR-1306	CLIP-seq
MIRT1352510	hsa-miR-147	CLIP-seq
MIRT1352511	hsa-miR-1909	CLIP-seq
MIRT1352512	hsa-miR-2110	CLIP-seq
MIRT1352513	hsa-miR-3138	CLIP-seq
MIRT1352514	hsa-miR-3150a-3p	CLIP-seq
MIRT1352515	hsa-miR-3911	CLIP-seq
MIRT1352516	hsa-miR-4260	CLIP-seq
MIRT1352517	hsa-miR-4271	CLIP-seq
MIRT1352518	hsa-miR-4450	CLIP-seq
MIRT1352519	hsa-miR-4725-3p	CLIP-seq
MIRT1352520	hsa-miR-4736	CLIP-seq
MIRT1352521	hsa-miR-4763-3p	CLIP-seq
MIRT1352522	hsa-miR-4800-5p	CLIP-seq
MIRT1352523	hsa-miR-644	CLIP-seq
MIRT1352524	hsa-miR-937	CLIP-seq
MIRT1352508	hsa-miR-1207-5p	CLIP-seq
MIRT1352510	hsa-miR-147	CLIP-seq
MIRT1352511	hsa-miR-1909	CLIP-seq
MIRT1352512	hsa-miR-2110	CLIP-seq
MIRT1352513	hsa-miR-3138	CLIP-seq
MIRT1352514	hsa-miR-3150a-3p	CLIP-seq
MIRT1352525	hsa-miR-323-5p	CLIP-seq
MIRT1352526	hsa-miR-3650	CLIP-seq
MIRT1352515	hsa-miR-3911	CLIP-seq
MIRT1352516	hsa-miR-4260	CLIP-seq
MIRT1352517	hsa-miR-4271	CLIP-seq
MIRT1352518	hsa-miR-4450	CLIP-seq
MIRT1352527	hsa-miR-4505	CLIP-seq
MIRT1352519	hsa-miR-4725-3p	CLIP-seq
MIRT1352520	hsa-miR-4736	CLIP-seq
MIRT1352521	hsa-miR-4763-3p	CLIP-seq
MIRT1352522	hsa-miR-4800-5p	CLIP-seq
MIRT1352528	hsa-miR-629	CLIP-seq
MIRT1352523	hsa-miR-644	CLIP-seq
MIRT1352529	hsa-miR-876-3p	CLIP-seq
MIRT1352524	hsa-miR-937	CLIP-seq
MIRT1352525	hsa-miR-323-5p	CLIP-seq
MIRT2104366	hsa-miR-3652	CLIP-seq
MIRT2104367	hsa-miR-4430	CLIP-seq
MIRT1352527	hsa-miR-4505	CLIP-seq
MIRT2104368	hsa-miR-4793-5p	CLIP-seq
MIRT1352529	hsa-miR-876-3p	CLIP-seq
MIRT2328822	hsa-miR-122	CLIP-seq
MIRT2328823	hsa-miR-3198	CLIP-seq
MIRT2328824	hsa-miR-4309	CLIP-seq
MIRT2328825	hsa-miR-432	CLIP-seq
MIRT2328826	hsa-miR-574-5p	CLIP-seq
MIRT2328825	hsa-miR-432	CLIP-seq
MIRT2442630	hsa-miR-326	CLIP-seq
MIRT2442631	hsa-miR-330-5p	CLIP-seq
MIRT2442632	hsa-miR-3657	CLIP-seq
MIRT2442633	hsa-miR-4669	CLIP-seq
MIRT2623245	hsa-miR-103b	CLIP-seq
MIRT2623246	hsa-miR-4676-5p	CLIP-seq
MIRT2623247	hsa-miR-575	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005343	Function	Organic acid:sodium symporter activity	IDA	12445824, 26324167, 33597751
GO:0005343	Function	Organic acid:sodium symporter activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26384929
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	30054523
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006842	Process	Tricarboxylic acid transport	IEA
GO:0015137	Function	Citrate transmembrane transporter activity	IBA
GO:0015137	Function	Citrate transmembrane transporter activity	IDA	21264516, 26176240
GO:0015137	Function	Citrate transmembrane transporter activity	IEA
GO:0015137	Function	Citrate transmembrane transporter activity	IMP	30054523
GO:0015137	Function	Citrate transmembrane transporter activity	TAS
GO:0015141	Function	Succinate transmembrane transporter activity	IBA
GO:0015141	Function	Succinate transmembrane transporter activity	IEA
GO:0015142	Function	Tricarboxylic acid transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015370	Function	Solute:sodium symporter activity	IEA
GO:0015729	Process	Oxaloacetate transport	IBA
GO:0015729	Process	Oxaloacetate transport	IDA	26324167
GO:0015729	Process	Oxaloacetate transport	IEA
GO:0015741	Process	Fumarate transport	IBA
GO:0015741	Process	Fumarate transport	IDA	26324167
GO:0015741	Process	Fumarate transport	IEA
GO:0015742	Process	Alpha-ketoglutarate transport	IDA	26324167
GO:0015742	Process	Alpha-ketoglutarate transport	IEA
GO:0015744	Process	Succinate transport	IBA
GO:0015744	Process	Succinate transport	IDA	26324167
GO:0015744	Process	Succinate transport	IEA
GO:0015746	Process	Citrate transport	IBA
GO:0015746	Process	Citrate transport	IDA	12445824, 21264516, 26176240, 26324167, 26384929, 33597751
GO:0015746	Process	Citrate transport	IEA
GO:0015746	Process	Citrate transport	IMP	30054523
GO:0016020	Component	Membrane	IEA
GO:0017153	Function	Sodium:dicarboxylate symporter activity	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035674	Process	Tricarboxylic acid transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042802	Function	Identical protein binding	IPI	33597751
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071285	Process	Cellular response to lithium ion	IDA	26324167
GO:0071285	Process	Cellular response to lithium ion	IEA
GO:0071422	Process	Succinate transmembrane transport	IEA
GO:1903825	Process	Organic acid transmembrane transport	IEA

Other IDs

• MIM: 608305
• HGNC: 23089
• e!Ensembl: ENSG00000141485

Protein

• UniProt ID: Q86YT5
• Protein name: Na(+)/citrate cotransporter (NaCT) (Sodium-coupled citrate transporter) (Sodium-dependent citrate transporter) (Solute carrier family 13 member 5)
• Protein function: High-affinity sodium/citrate cotransporter that mediates the entry of citrate into cells, which is a critical participant of biochemical pathways (PubMed:12445824, PubMed:12826022, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:335977
• PDB: 7JSJ, 7JSK, 8UVB, 8UVH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00939	Na_sulph_symp	8 → 554	Sodium:sulfate symporter transmembrane region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed most predominantly in the liver, with moderate expression detectable in the brain and testis. {ECO:0000269|PubMed:12445824}.
• Sequence:

  MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTS
  LMPVLLFPLFQILDSRQVCVQYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAK
  PARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQMEATSAATEAGLELVDKGKAKE
  LPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLTGTGPNVVLLGQMNEL
  FPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALK
  VLQEEYRKLGPLSFAEINVLICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVA
  IFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWKVTQEKVPWGIVLLLGGGFAL
  AKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMS
  RSIGLNPLYIMLPCTLSASFAFMLPVATPPNAIVFTYGHLKVADMVKTGVIMNIIGVFCV
  FLAVNTWGRAIFDLDHFPDWANVTHIET

• Sequence length: 568

Pathways

Reactome:

Sodium-coupled sulphate, di- and tri-carboxylate transporters

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Chronic kidney disease	Likely pathogenic	rs730882222	RCV000162134	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 25	Pathogenic; Likely pathogenic	rs2151485506, rs766330201, rs2150964787, rs113208940, rs144332569, rs587777577, rs587777578, rs2151495220, rs2544612394, rs2544638751, rs2544641047, rs2544624572, rs1973699766, rs2544660833, rs548065551, rs150203483, rs863225447, rs761917087, rs863225448, rs2544605962, rs773770609, rs2544620617, rs2544661194, rs2544638357, rs2544620374, rs2544634307, rs2544617550, rs1057519449, rs966681982, rs1555541483, rs1555541486, rs1597676674, rs746055240, rs1597657030, rs1597677742, rs1973697345, rs1973546077, rs1973878360	RCV001950878 RCV001913296 RCV001911536 RCV002047438 RCV000128860 RCV000128861 RCV000128862 RCV002221913 RCV002705962 RCV002893919 RCV002871768 RCV002890621 RCV002949386 RCV003026176 RCV000202396 RCV000202400 RCV000202392 RCV000202397 RCV000202401 RCV003026367 RCV000416469 RCV003586749 RCV003587880 RCV003749329 RCV003750064 RCV003847776 RCV003994688 RCV000416419 RCV001378440 RCV000526125 RCV001861705 RCV000807855 RCV000807588 RCV000989688 RCV000989691 RCV001040455 RCV001202622 RCV001201858	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1597653264, rs1597676610	RCV001003622 RCV001003623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs730882222	RCV000162134	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs761917087	RCV005625442	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs730882222	RCV000162134	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC13A5-related disorder	Likely pathogenic; Pathogenic	rs548065551	RCV003955216	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Undetermined early-onset epileptic encephalopathy	Likely pathogenic; Pathogenic	rs587777577	RCV000826127	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMELOCEREBROHYPOHIDROTIC SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT RESISTANT DEPRESSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelocerebrohypohidrotic syndrome	Amelocerebrohypohidrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	27600704		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	33797191	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	33797191	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24995870, 30054523, 33797191, 39442909, 40577459	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20831839, 25223935, 29146052, 29565320		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32634519	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22610075, 25332168	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24463159, 29486993, 29492221, 31402165, 31818526		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31470801		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Convulsions in the newborn	Convulsions	BEFREE	27913086		★☆☆☆☆ Found in Text Mining only
Deficiency of glutamate decarboxylase	Deficiency Of Glutamate Decarboxylase	ORPHANET_DG	27912044		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28673551, 33797191	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diarrhea 3 Secretory Sodium Congenital	Congenital secretory diarrhea	Pubtator	33797191	Inhibit	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22342810		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28264506		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26384929, 27261973, 28264506, 28673551, 29895383		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28673551, 32634519, 33597751, 33797191, 35633140	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	ORPHANET_DG	27912044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	24995870, 26384929, 27600704, 28264506, 29895383		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35633140	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA	Epileptic encephalopathy	CLINVAR_DG	24995870, 26384929, 26960556, 27261973, 27600704, 27913086, 28673551		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA	Epileptic encephalopathy	UNIPROT_DG	24995870, 26384929		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27261973, 27913086		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24463159, 29486993, 31402165, 31818526		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26303333, 28987323		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	CTD_human_DG	26303333		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21156036	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27261973, 27913086, 28673551, 29895383		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33797191	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney disease	Pubtator	38110950	Associate	★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	BEFREE	27600704		★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	ORPHANET_DG	27600704		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28655760		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28655760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20831839, 25223935, 29146052, 29565320		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28821606		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29492221		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28655760, 28701190, 28718942		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34755462	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25628225, 28596784, 28987323		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32634519	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	34943889	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31006089		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28133767, 28596784		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33597751	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28406943		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29492221		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36251340	Inhibit	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	28673551	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyridoxine-dependent epilepsy	Pyridoxine-Dependent Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24995870, 28673551, 35633140	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	33797191	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25628225, 26303333, 28987323		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	26303333		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only