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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83959
Gene name	Solute carrier family 4 member 11
Gene symbol	SLC4A11
Synonyms (NCBI Gene)	BTR1CDPD1CHEDCHED2NABC1dJ794I6.2
Chromosome	20
Chromosome location	20p13
Summary	This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystroph

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909387	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909388	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, missense variant
rs121909389	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121909390	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained, non coding transcript variant, missense variant
rs121909391	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909392	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909393	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, missense variant
rs121909394	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121909395	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121909396	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs141705330	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs267607064	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs267607065	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs267607066	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs748362724	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs757553189	G>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs797045107	TGGCGAAGC>G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869320617	GCAGACGGGCA>CCGGCCGGCC	Pathogenic	Intron variant, genic downstream transcript variant
rs869320720	CTTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869320721	GGCGAAGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869320722	CGTA>T	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs1363770105	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600561475	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1600592887	->T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1600618680	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments
MIRT1364874	hsa-miR-210	CLIP-seq
MIRT1364875	hsa-miR-338-3p	CLIP-seq
MIRT1364876	hsa-miR-4530	CLIP-seq
MIRT1364877	hsa-miR-4684-5p	CLIP-seq
MIRT2626667	hsa-miR-1228	CLIP-seq
MIRT2626668	hsa-miR-329	CLIP-seq
MIRT2626669	hsa-miR-362-3p	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005272	Function	Sodium channel activity	IDA	15525507
GO:0005372	Function	Water transmembrane transporter activity	IDA	23813972, 31273259
GO:0005452	Function	Solute:inorganic anion antiporter activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	17715183
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	15525507
GO:0006820	Process	Monoatomic anion transport	IEA
GO:0006833	Process	Water transport	IEA
GO:0012506	Component	Vesicle membrane	IEA
GO:0012506	Component	Vesicle membrane	ISS	17715183
GO:0015078	Function	Proton transmembrane transporter activity	IDA	27581649
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IDA	15525507
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IEA
GO:0015252	Function	Proton channel activity	IDA	15525507
GO:0015293	Function	Symporter activity	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015701	Process	Bicarbonate transport	IDA	15525507
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	17715183, 23813972
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	17715183
GO:0016323	Component	Basolateral plasma membrane	TAS	15525507
GO:0016324	Component	Apical plasma membrane	IDA	17715183
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IDA	15525507
GO:0034599	Process	Cellular response to oxidative stress	IMP	28642546
GO:0035445	Process	Borate transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042044	Process	Fluid transport	IEA
GO:0042044	Process	Fluid transport	ISS
GO:0046713	Process	Borate transport	IDA	15525507
GO:0046715	Function	Active borate transmembrane transporter activity	IDA	15525507
GO:0046983	Function	Protein dimerization activity	IDA	22072594
GO:0050801	Process	Monoatomic ion homeostasis	IBA
GO:0050801	Process	Monoatomic ion homeostasis	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	28642546
GO:0055085	Process	Transmembrane transport	IBA
GO:0071476	Process	Cellular hypotonic response	IDA	23813972, 31273259
GO:1902600	Process	Proton transmembrane transport	IDA	15525507
GO:2000739	Process	Regulation of mesenchymal stem cell differentiation	IEA
GO:2000739	Process	Regulation of mesenchymal stem cell differentiation	ISS

MIM	HGNC	e!Ensembl
610206	16438	ENSG00000088836

Q8NBS3

Protein name

Solute carrier family 4 member 11 (Sodium borate cotransporter 1) (NaBC1)

Protein function

Multifunctional transporter with an impact in cell morphology and differentiation. In the presence of borate B(OH)4(-), acts as a voltage-dependent electrogenic Na(+)-coupled B(OH)4(-) cotransporter controlling boron homeostasis (PubMed:15525507

PDB

7X1G , 7X1H , 7X1I , 7X1J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00955	HCO3_cotransp	336 → 835	HCO3- transporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, testis, salivary gland, thyroid, trachea and corneal endothelium. Not detected in retina and lymphocytes. {ECO:0000269|PubMed:11302728, ECO:0000269|PubMed:16767101}.; TISSUE SPECIFICITY: [I

Sequence

MSQVGGRGDRCTQEVQGLVHGAGDLSASLAENSPTMSQNGYFEDSSYYKCDTDDTFEARE
EILGDEAFDTANSSIVSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLKNF
KEEIRAHRDLDGFLAQASIVLNETATSLDNVLRTMLRRFARDPDNNEPNCNLDLLMAMLF
TDAGAPMRGKVHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQKRHVCISRLVRPQNW
GENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEEEFKEALVH
QRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDIARRFPLYPLD
FTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLL
YALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLWNSFFLALYAFFNLS
LVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLDDYHTKRTSSLVSLSGL
GASLNASLHTALNASFLASPTELPSATHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYL
HPCVREILSDCALPIAVLAFSLISSHGFREIEMSKFRYNPSESPFAMAQIQSLSLRAVSG
AMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHA
AYPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLLLLPVPLQWIP
KPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTAYPPTHYIRRVPQRKIHYFTGLQVLQL
LLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRIIEAKYLDVMDAEHRP

Sequence length

891

Interactions

View interactions

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital hereditary endothelial dystrophy of cornea	Likely pathogenic; Pathogenic	rs2122503902, rs1233324021, rs869320721, rs371909885, rs764217666, rs746532062, rs750656470, rs776659347, rs1568528185, rs121909387, rs121909388, rs121909389, rs121909390, rs869320720, rs121909391 View all (20 more)	RCV005038164 RCV002488197 RCV002488196 RCV005038194 RCV005025632 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corneal dystrophy	Pathogenic; Likely pathogenic	rs121909389, rs869320721, rs766567944	RCV005859450 RCV006253445 RCV006254345	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy, Fuchs endothelial, 4	Likely pathogenic; Pathogenic	rs2122503902, rs1233324021, rs869320721, rs371909885, rs764217666, rs750656470, rs776659347, rs1568528185, rs121909390, rs121909392, rs121909396, rs121909394, rs267607064, rs1600618680, rs766567944 View all (11 more)	RCV005038164 RCV002488197 RCV002488196 RCV005038194 RCV005025632 View all (22 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corneal dystrophy-perceptive deafness syndrome	Likely pathogenic; Pathogenic	rs2122503902, rs1233324021, rs772916997, rs869320721, rs780346984, rs1311747266, rs371909885, rs764217666, rs757244518, rs1298347142, rs1335324642, rs2067871973, rs750656470, rs776659347, rs1568528185 View all (27 more)	RCV005038164 RCV002488197 RCV001779160 RCV005606824 RCV005038194 View all (39 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2514532541	RCV005930304	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC4A11-related disorder	Likely pathogenic; Pathogenic	rs1377933433, rs772409032	RCV003401845 RCV003398991	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs759540763	RCV005913547	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE II	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Recessive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS ENDOTHELIAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY CORNEAL DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior polymorphous corneal dystrophy 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (74)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	9671742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31556319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29091960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chandler syndrome	Chandler Syndrome	BEFREE	16825429, 17220209, 25811729, 28642546, 30557570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chandler syndrome	Chandler Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10857754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital corneal dystrophy	Congenital corneal dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hereditary endothelial dystrophy	Congenital Hereditary Endothelial Dystrophy	BEFREE	10512674, 12654361, 16767101, 17262014, 17397048, 17679935, 18363173, 18474783, 20848555, 21203343, 24351571, 24502824, 25007886, 25564336, 26286922 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hereditary endothelial dystrophy	Congenital Hereditary Endothelial Dystrophy	GENOMICS_ENGLAND_DG	16767101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hereditary endothelial dystrophy type II	Congenital Hereditary Endothelial Dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Diseases	Corneal Diseases	BEFREE	17679935, 23813972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	25394471, 27581649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	11836359, 17220209, 20848555, 24351571, 31273259, 36902444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	17220209, 20848555, 21288032, 22072594, 23813972, 24351571, 24916015, 26641551, 27558157, 28934248, 29327391, 30140924, 31691803		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	BEFREE	11836359, 17220209, 18922146, 19586905, 20848555, 22072594, 24351571, 24916015, 25500497, 26451371, 27581649, 30557570, 30856043		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy and perceptive deafness	Corneal dystrophy	Pubtator	11836359, 17220209, 20848555, 24351571, 25394471, 27581649	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	GENOMICS_ENGLAND_DG	16825429, 22072594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	UNIPROT_DG	17220209		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	ORPHANET_DG	17220209, 18922146		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy Fuchs Endothelial 4	Corneal dystrophy	Pubtator	38252645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Fuchs' endothelial 1	Corneal dystrophy	Pubtator	25394471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Posterior Polymorphous 1	Posterior polymorphous corneal dystrophy	Pubtator	26619383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	Corneal Endothelial Dystrophy	GENOMICS_ENGLAND_DG	16825429		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	Corneal Endothelial Dystrophy	UNIPROT_DG	18024964, 20848555, 22072594, 25007886		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	Corneal Endothelial Dystrophy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	Corneal Endothelial Dystrophy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corneal dystrophy-perceptive deafness syndrome	Corneal Dystrophy-Perceptive Deafness Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corneal Edema	Corneal edema	Pubtator	38252645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	12654361		★★★★★ ★☆☆☆☆ Found in Text Mining only
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	16767101, 16825429, 17220209, 18024964, 18363173, 20848555, 24351571, 24502824, 25811729, 26451371, 27581649, 28642546, 28738416, 29327391, 30557570, 31254733, 31691803, 31714402 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	UNIPROT_DG	16767101, 16825429, 17220209, 17397048, 17679935, 18474783, 19369245, 20108384, 20185830, 21203343, 22072594, 26286922		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	GENOMICS_ENGLAND_DG	16767101, 16825429, 22072594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	ORPHANET_DG	16767101, 24351571		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	CLINVAR_DG	18474783		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal endothelial dystrophy type 2	Corneal endothelial dystrophy	Pubtator	16825429, 17220209, 17262014, 20848555, 21203343, 24351571, 25394471, 26286922, 26619383, 27581649, 27609159, 28642546, 31273259, 31323090, 36037197 View all (5 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal guttata	Corneal guttata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	37787991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
De Barsy syndrome	De barsy syndrome	Pubtator	16825429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	11836359, 17220209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35163645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	17262014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	20848555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs endothelial corneal dystrophy	Fuchs Endothelial Dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	18024964, 20144242, 20848555, 23662738, 23813972, 24348007, 24351571, 24502824, 24916015, 25007886, 26641551, 27558157, 27925686, 28642546, 28738416 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	ORPHANET_DG	20848555		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	20144242, 20848555, 24348007, 24351571, 25394471, 25548511, 27121161, 27581649, 28642546, 31273259, 37788993	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	36833236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	36833236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	26619383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	17220209, 24351571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	24351571, 27581649, 39319907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	25182519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	23462747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	25394471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29091960	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	9671742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29091960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10857754, 12833450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37787991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29091960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	37787991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29091960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29091960	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35163645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy	BEFREE	12654361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	26750805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	17220209, 24351571, 28117276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	16825429, 38252645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC4A11 (solute carrier family 4 member 11)