Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8671
Gene name	Solute carrier family 4 member 4
Gene symbol	SLC4A4
Synonyms (NCBI Gene)	HNBC1KNBCNBC1NBC2NBCe1NBCe1-APRTAOSLC4A5hhNMCkNBC1pNBC
Chromosome	4
Chromosome location	4q13.3
Summary	This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants en

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72650362	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908856	A>C	Pathogenic	Missense variant, coding sequence variant
rs121908857	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908858	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, intron variant
rs786205569	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553913019	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

150

Show/Hide all (150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679022	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT679021	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT679022	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT679021	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT678154	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT678153	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT678152	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT678151	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT678150	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT678149	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT678148	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT678147	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678146	hsa-miR-1976	HITS-CLIP	23824327
MIRT678145	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT678144	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT678143	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT678142	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT678141	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT678140	hsa-miR-4279	HITS-CLIP	23824327
MIRT678139	hsa-miR-498	HITS-CLIP	23824327
MIRT678138	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT1364926	hsa-miR-1231	CLIP-seq
MIRT1364927	hsa-miR-142-5p	CLIP-seq
MIRT1364928	hsa-miR-2116	CLIP-seq
MIRT1364929	hsa-miR-3120-5p	CLIP-seq
MIRT1364930	hsa-miR-3664-5p	CLIP-seq
MIRT1364931	hsa-miR-3689d	CLIP-seq
MIRT1364932	hsa-miR-375	CLIP-seq
MIRT1364933	hsa-miR-4273	CLIP-seq
MIRT1364934	hsa-miR-4464	CLIP-seq
MIRT1364935	hsa-miR-4522	CLIP-seq
MIRT1364936	hsa-miR-4658	CLIP-seq
MIRT1364937	hsa-miR-4677-5p	CLIP-seq
MIRT1364938	hsa-miR-4748	CLIP-seq
MIRT1364939	hsa-miR-4758-5p	CLIP-seq
MIRT1364940	hsa-miR-4761-5p	CLIP-seq
MIRT1364941	hsa-miR-4765	CLIP-seq
MIRT1364942	hsa-miR-516b	CLIP-seq
MIRT1364943	hsa-miR-526b	CLIP-seq
MIRT1364944	hsa-miR-542-3p	CLIP-seq
MIRT1364945	hsa-miR-561	CLIP-seq
MIRT1364946	hsa-miR-659	CLIP-seq
MIRT1364930	hsa-miR-3664-5p	CLIP-seq
MIRT1364931	hsa-miR-3689d	CLIP-seq
MIRT1364934	hsa-miR-4464	CLIP-seq
MIRT2108316	hsa-miR-4731-3p	CLIP-seq
MIRT1364938	hsa-miR-4748	CLIP-seq
MIRT2108317	hsa-miR-4801	CLIP-seq
MIRT2108318	hsa-miR-548a-5p	CLIP-seq
MIRT2108319	hsa-miR-548ab	CLIP-seq
MIRT2108320	hsa-miR-548ak	CLIP-seq
MIRT2108321	hsa-miR-548b-5p	CLIP-seq
MIRT2108322	hsa-miR-548c-5p	CLIP-seq
MIRT2108323	hsa-miR-548d-5p	CLIP-seq
MIRT2108324	hsa-miR-548h	CLIP-seq
MIRT2108325	hsa-miR-548i	CLIP-seq
MIRT2108326	hsa-miR-548j	CLIP-seq
MIRT2108327	hsa-miR-548w	CLIP-seq
MIRT2108328	hsa-miR-548y	CLIP-seq
MIRT2108329	hsa-miR-559	CLIP-seq
MIRT2108330	hsa-miR-579	CLIP-seq
MIRT2108331	hsa-miR-664	CLIP-seq
MIRT2332081	hsa-miR-145	CLIP-seq
MIRT2332082	hsa-miR-224	CLIP-seq
MIRT2332083	hsa-miR-3611	CLIP-seq
MIRT2332084	hsa-miR-4639-3p	CLIP-seq
MIRT2332085	hsa-miR-4786-3p	CLIP-seq
MIRT2332086	hsa-miR-548n	CLIP-seq
MIRT2332087	hsa-miR-548t	CLIP-seq
MIRT1364945	hsa-miR-561	CLIP-seq
MIRT2332088	hsa-miR-587	CLIP-seq
MIRT2332083	hsa-miR-3611	CLIP-seq
MIRT2626670	hsa-miR-378g	CLIP-seq
MIRT2626671	hsa-miR-383	CLIP-seq
MIRT2626672	hsa-miR-4252	CLIP-seq
MIRT2626673	hsa-miR-433	CLIP-seq
MIRT2626674	hsa-miR-4709-3p	CLIP-seq
MIRT2626675	hsa-miR-4772-5p	CLIP-seq
MIRT1364945	hsa-miR-561	CLIP-seq
MIRT2691267	hsa-miR-127-5p	CLIP-seq
MIRT2691268	hsa-miR-3155	CLIP-seq
MIRT2691269	hsa-miR-3155b	CLIP-seq
MIRT2691270	hsa-miR-484	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	IEA
GO:0005515	Function	Protein binding	IPI	14567693, 15218065, 15563508, 16769890
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16636648
GO:0005886	Component	Plasma membrane	IDA	10069984, 16636648, 23324180, 29500354
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	15817634, 15930088, 23636456
GO:0005886	Component	Plasma membrane	RCA	29500354
GO:0005886	Component	Plasma membrane	TAS	9235899
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	16769890
GO:0006814	Process	Sodium ion transport	IEA
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0008509	Function	Monoatomic anion transmembrane transporter activity	IEA
GO:0008510	Function	Sodium:bicarbonate symporter activity	IBA
GO:0008510	Function	Sodium:bicarbonate symporter activity	IDA	9235899, 9651366, 10069984, 11744745, 12411514, 12730338, 12907161, 16769890, 23324180
GO:0008510	Function	Sodium:bicarbonate symporter activity	IEA
GO:0008510	Function	Sodium:bicarbonate symporter activity	IMP	15218065, 15713912, 15817634, 15930088, 16636648, 17661077, 23636456, 29500354
GO:0008510	Function	Sodium:bicarbonate symporter activity	TAS	21976511
GO:0009986	Component	Cell surface	IDA	29500354
GO:0015293	Function	Symporter activity	IEA
GO:0015293	Function	Symporter activity	IMP	29500354
GO:0015698	Process	Inorganic anion transport	IEA
GO:0015701	Process	Bicarbonate transport	IBA
GO:0015701	Process	Bicarbonate transport	IDA	10069984
GO:0015701	Process	Bicarbonate transport	IEA
GO:0015701	Process	Bicarbonate transport	IMP	16636648
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016020	Component	Membrane	IDA	10069984
GO:0016020	Component	Membrane	IDA	27717805
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	12907161, 15273250, 17182531, 17661077
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IMP	15713912
GO:0035725	Process	Sodium ion transmembrane transport	IDA	10069984
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0036376	Process	Sodium ion export across plasma membrane	IMP	16636648
GO:0042391	Process	Regulation of membrane potential	IDA	10069984, 15273250
GO:0042391	Process	Regulation of membrane potential	ISS	21976511
GO:0042802	Function	Identical protein binding	IPI	20798035, 29500354
GO:0045821	Process	Positive regulation of glycolytic process	IGI	21976511
GO:0045821	Process	Positive regulation of glycolytic process	ISS	21976511
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0051453	Process	Regulation of intracellular pH	IDA	10069984
GO:0051453	Process	Regulation of intracellular pH	IGI	21976511
GO:0051453	Process	Regulation of intracellular pH	IMP	24453308
GO:0051453	Process	Regulation of intracellular pH	ISS	21976511
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IMP	29500354
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653

MIM	HGNC	e!Ensembl
603345	11030	ENSG00000080493

Q9Y6R1

Protein name

Electrogenic sodium bicarbonate cotransporter 1 (Sodium bicarbonate cotransporter) (Na(+)/HCO3(-) cotransporter) (Solute carrier family 4 member 4) (kNBC1)

Protein function

Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. {ECO:0000269|PubMed:10069984, EC

PDB

6CAA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07565	Band_3_cyto	137 → 388	Band 3 cytoplasmic domain	Domain
PF00955	HCO3_cotransp	436 → 956	HCO3- transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in the corneal endothelium cells (at protein level). Expressed in pancreas and to a lower extent in heart, skeletal muscle, liver, parotid salivary glands, prostate, colon, stomach, thyroid, brain and spinal cord

Sequence

MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERI
SENYSDKSDIENADESSSSILKPLISPAAERIRFILGEEDDSPAPPQLFTELDELLAVDG
QEMEWKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFELRTCMEKGSIMLDREASSLP
QLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKKSNLRSLADIGKTVSSASRMFTN
PDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFI
AFVRLQQAVMLGALTEVPVPTRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKA
KDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSSDKRKNMYSGGENVQMNGDTP
HDGGHGGGGHGDCEELQRTGRFCGGLIKDIKRKAPFFASDFYDALNIQALSAILFIYLAT
VTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTILSSTGPVLVFERLLF
NFSKDNNFDYLEFRLWIGLWSAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDA
FKKMIKLADYYPINSNFKVGYNTLFSCTCVPPDPANISISNDTTLAPEYLPTMSSTDMYH
NTTFDWAFLSKKECSKYGGNLVGNNCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFP
TTARKLISDFAIILSILIFCVIDALVGVDTPKLIVPSEFKPTSPNRGWFVPPFGENPWWV
CLAAAIPALLVTILIFMDQQITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPW
YVAATVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTGTLVFILTGLSVFMAPILKFI
PMPVLYGVFLYMGVASLNGVQFMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLC
LALLWILKSTVAAIIFPVMILALVAVRKGMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKK
KKKKGSLDSDNDDSDCPYSEKVPSIKIPMDIMEQQPFLSDSKPSDRERSPTFLERHTSC

Sequence length

1079

Interactions

View interactions

	KEGG		Reactome
	Proximal tubule bicarbonate reclamation Pancreatic secretion Bile secretion		Bicarbonate transporters Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive proximal renal tubular acidosis	Pathogenic; Likely pathogenic	rs121908856, rs121908857, rs121908858, rs778804628, rs1725958418, rs1553913019	RCV000006844 RCV000006845 RCV000006846 RCV003322671 RCV004577929 RCV000656732 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC4A4-related disorder	Likely pathogenic	rs752089136	RCV003397790	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL OPACITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (67)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive proximal renal tubular acidosis	Proximal Renal Tubular Acidosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35247929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30668544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11435462, 15471865, 16636648, 24477681		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CTD_human_DG	18614622		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	23832211, 29914390	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Child Development Deviations	Development Disorder	CTD_human_DG	18614622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	18614622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASDB_DG	23829686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32566650, 37843347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32949121	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31612015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31612869, 32323816, 32566650, 36618366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36468451	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30668544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Band-Shaped	Corneal Dystrophy	BEFREE	16636648, 29914390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Band-Shaped	Corneal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	18614622		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	29914390	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	CTD_human_DG	18614622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	16636648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	39869206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	23832211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	20798035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	15471865, 29671668, 29914390		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	CTD_human_DG	18614622		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	29914390	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	29671668, 29914390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23636456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22479346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25354240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35150959	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11274232, 15471865, 28754144, 29914390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28754144, 29914390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	30668544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11274232, 15471865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic acidosis, NAG, acidifying salts	Metabolic Acidosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	31318482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25354240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	20798035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31778748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	16012037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31714480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	25743102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25701361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	26283638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	29556725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33283584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	18614622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	14559244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	GENOMICS_ENGLAND_DG	10545938, 11274232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	UNIPROT_DG	10545938, 15471865, 15713912, 15930088, 16636648, 17661077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	BEFREE	10990375, 11274232, 12027212, 12138151, 12444017, 15085340, 15471865, 15930088, 16636648, 16707554, 17661077, 18614622, 20197274, 20798035, 21228764 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	CTD_human_DG	18614622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21179278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	23636456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15471865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	29914390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	29914390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC4A4 (solute carrier family 4 member 4)