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	10479
Gene name	Solute carrier family 9 member A6
Gene symbol	SLC9A6
Synonyms (NCBI Gene)	MRSAMRXSCHNDPACXNHE6
Chromosome	X
Chromosome location	Xq26.3
Summary	This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated wit

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SNP ID	Visualize variation	Clinical significance	Consequence
rs122461162	C>T	Pathogenic	Coding sequence variant, stop gained
rs139299794	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs151178361	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs190788663	C>T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs398122849	GGTGCTGCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs398123003	G>T	Pathogenic	Stop gained, coding sequence variant
rs398124224	C>T	Pathogenic	Stop gained, coding sequence variant
rs587784398	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784399	T>G	Pathogenic	Stop gained, coding sequence variant
rs730882187	AA>CC	Pathogenic	Intron variant
rs730882188	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs782108464	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs782296172	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs796053283	G>A	Pathogenic	Splice donor variant
rs796053284	G>A	Likely-pathogenic	Intron variant
rs796053290	TTTTA>-	Uncertain-significance, likely-pathogenic, pathogenic	Intron variant
rs796053291	->G	Pathogenic	Splice acceptor variant, coding sequence variant
rs796053293	->C	Pathogenic	Frameshift variant, coding sequence variant
rs796053297	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044508	G>A	Pathogenic	Splice acceptor variant
rs886037619	AAAGTG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1006154022	T>G	Likely-pathogenic	Missense variant, initiator codon variant, intron variant
rs1057519394	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793575	GT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1064795183	GA>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1556617455	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1556620027	TATTTAC>GTCTTGGGAAGAGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1569525357	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569525894	TCTTCCTTAACCACCGC>-	Likely-pathogenic	Intron variant
rs1603198063	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603198937	G>A	Pathogenic	Splice donor variant
rs1603201557	CTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1603201598	->T	Likely-pathogenic	Splice donor variant
rs1603215383	G>A	Pathogenic	Splice acceptor variant
rs1603219805	AAGGA>-	Pathogenic	Coding sequence variant, frameshift variant

231

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027197	hsa-miR-103a-3p	Sequencing	20371350
MIRT030928	hsa-miR-21-5p	Microarray	18591254
MIRT031859	hsa-miR-16-5p	Sequencing	20371350
MIRT048876	hsa-miR-93-5p	CLASH	23622248
MIRT046279	hsa-miR-23b-3p	CLASH	23622248
MIRT046279	hsa-miR-23b-3p	CLASH	23622248
MIRT039396	hsa-miR-421	CLASH	23622248
MIRT038942	hsa-miR-31-3p	CLASH	23622248
MIRT108983	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT108984	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT031859	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT108985	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT726500	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726499	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1369052	hsa-miR-196a	CLIP-seq
MIRT1369053	hsa-miR-196b	CLIP-seq
MIRT1369054	hsa-miR-19a	CLIP-seq
MIRT1369055	hsa-miR-19b	CLIP-seq
MIRT1369056	hsa-miR-3174	CLIP-seq
MIRT1369057	hsa-miR-3190	CLIP-seq
MIRT1369058	hsa-miR-331-5p	CLIP-seq
MIRT1369059	hsa-miR-34b	CLIP-seq
MIRT1369060	hsa-miR-34c-3p	CLIP-seq
MIRT1369061	hsa-miR-3677-3p	CLIP-seq
MIRT1369062	hsa-miR-371-5p	CLIP-seq
MIRT1369063	hsa-miR-3911	CLIP-seq
MIRT1369064	hsa-miR-3927	CLIP-seq
MIRT1369065	hsa-miR-412	CLIP-seq
MIRT1369066	hsa-miR-4302	CLIP-seq
MIRT1369067	hsa-miR-4659a-3p	CLIP-seq
MIRT1369068	hsa-miR-4659b-3p	CLIP-seq
MIRT1369069	hsa-miR-4680-3p	CLIP-seq
MIRT1369070	hsa-miR-4705	CLIP-seq
MIRT1369071	hsa-miR-4717-3p	CLIP-seq
MIRT1369072	hsa-miR-4724-5p	CLIP-seq
MIRT1369073	hsa-miR-496	CLIP-seq
MIRT1369074	hsa-miR-513a-3p	CLIP-seq
MIRT1369075	hsa-miR-513b	CLIP-seq
MIRT1369076	hsa-miR-520d-5p	CLIP-seq
MIRT1369077	hsa-miR-524-5p	CLIP-seq
MIRT1369078	hsa-miR-590-3p	CLIP-seq
MIRT1369079	hsa-miR-9	CLIP-seq
MIRT1369080	hsa-miR-3154	CLIP-seq
MIRT1369081	hsa-miR-375	CLIP-seq
MIRT1369082	hsa-miR-4420	CLIP-seq
MIRT1369083	hsa-miR-5096	CLIP-seq
MIRT2109631	hsa-miR-320a	CLIP-seq
MIRT2109632	hsa-miR-320b	CLIP-seq
MIRT2109633	hsa-miR-320c	CLIP-seq
MIRT2109634	hsa-miR-320d	CLIP-seq
MIRT2109635	hsa-miR-330-3p	CLIP-seq
MIRT1369058	hsa-miR-331-5p	CLIP-seq
MIRT2109636	hsa-miR-4429	CLIP-seq
MIRT2109637	hsa-miR-4469	CLIP-seq
MIRT2109638	hsa-miR-3613-3p	CLIP-seq
MIRT2332830	hsa-miR-1270	CLIP-seq
MIRT2332831	hsa-miR-1273e	CLIP-seq
MIRT1369054	hsa-miR-19a	CLIP-seq
MIRT1369055	hsa-miR-19b	CLIP-seq
MIRT2332832	hsa-miR-3692	CLIP-seq
MIRT2332833	hsa-miR-3714	CLIP-seq
MIRT2332834	hsa-miR-432	CLIP-seq
MIRT2332835	hsa-miR-4531	CLIP-seq
MIRT1369067	hsa-miR-4659a-3p	CLIP-seq
MIRT1369068	hsa-miR-4659b-3p	CLIP-seq
MIRT1369069	hsa-miR-4680-3p	CLIP-seq
MIRT2332836	hsa-miR-4683	CLIP-seq
MIRT2332837	hsa-miR-4699-3p	CLIP-seq
MIRT1369070	hsa-miR-4705	CLIP-seq
MIRT1369071	hsa-miR-4717-3p	CLIP-seq
MIRT2332838	hsa-miR-502-5p	CLIP-seq
MIRT1369075	hsa-miR-513b	CLIP-seq
MIRT2332839	hsa-miR-576-3p	CLIP-seq
MIRT1369078	hsa-miR-590-3p	CLIP-seq
MIRT2332840	hsa-miR-620	CLIP-seq
MIRT2109637	hsa-miR-4469	CLIP-seq
MIRT1369069	hsa-miR-4680-3p	CLIP-seq
MIRT2332837	hsa-miR-4699-3p	CLIP-seq
MIRT2442659	hsa-miR-181a	CLIP-seq
MIRT2442660	hsa-miR-181b	CLIP-seq
MIRT2442661	hsa-miR-181c	CLIP-seq
MIRT2442662	hsa-miR-181d	CLIP-seq
MIRT2442663	hsa-miR-3199	CLIP-seq
MIRT2442664	hsa-miR-3919	CLIP-seq
MIRT2442665	hsa-miR-3941	CLIP-seq
MIRT2442666	hsa-miR-4262	CLIP-seq
MIRT2442667	hsa-miR-4643	CLIP-seq
MIRT2442668	hsa-miR-466	CLIP-seq
MIRT2442669	hsa-miR-4672	CLIP-seq
MIRT2442670	hsa-miR-4756-3p	CLIP-seq
MIRT2442671	hsa-miR-4789-3p	CLIP-seq
MIRT2627176	hsa-miR-105	CLIP-seq
MIRT2627177	hsa-miR-122	CLIP-seq
MIRT2627178	hsa-miR-1264	CLIP-seq
MIRT2627179	hsa-miR-1267	CLIP-seq
MIRT2627180	hsa-miR-1272	CLIP-seq
MIRT2627181	hsa-miR-1281	CLIP-seq
MIRT2627182	hsa-miR-153	CLIP-seq
MIRT2627183	hsa-miR-1913	CLIP-seq
MIRT2627184	hsa-miR-1972	CLIP-seq
MIRT2627185	hsa-miR-216a	CLIP-seq
MIRT2627186	hsa-miR-3074-5p	CLIP-seq
MIRT2627187	hsa-miR-31	CLIP-seq
MIRT2627188	hsa-miR-3117-5p	CLIP-seq
MIRT2627189	hsa-miR-3126-5p	CLIP-seq
MIRT2627190	hsa-miR-3140-5p	CLIP-seq
MIRT2627191	hsa-miR-3148	CLIP-seq
MIRT2627192	hsa-miR-3153	CLIP-seq
MIRT2627193	hsa-miR-3182	CLIP-seq
MIRT1369057	hsa-miR-3190	CLIP-seq
MIRT2627194	hsa-miR-323-3p	CLIP-seq
MIRT2627195	hsa-miR-324-3p	CLIP-seq
MIRT2627196	hsa-miR-3606	CLIP-seq
MIRT2109638	hsa-miR-3613-3p	CLIP-seq
MIRT2627197	hsa-miR-361-5p	CLIP-seq
MIRT2627198	hsa-miR-3659	CLIP-seq
MIRT2627199	hsa-miR-3675-5p	CLIP-seq
MIRT1369061	hsa-miR-3677-3p	CLIP-seq
MIRT2627200	hsa-miR-3682-3p	CLIP-seq
MIRT2627201	hsa-miR-3689a-3p	CLIP-seq
MIRT2627202	hsa-miR-3689c	CLIP-seq
MIRT2332833	hsa-miR-3714	CLIP-seq
MIRT1369062	hsa-miR-371-5p	CLIP-seq
MIRT1369063	hsa-miR-3911	CLIP-seq
MIRT2442664	hsa-miR-3919	CLIP-seq
MIRT1369066	hsa-miR-4302	CLIP-seq
MIRT2627203	hsa-miR-4307	CLIP-seq
MIRT2627204	hsa-miR-4328	CLIP-seq
MIRT2627205	hsa-miR-4419a	CLIP-seq
MIRT2627206	hsa-miR-4427	CLIP-seq
MIRT2627207	hsa-miR-4436a	CLIP-seq
MIRT2627208	hsa-miR-4446-5p	CLIP-seq
MIRT2627209	hsa-miR-4480	CLIP-seq
MIRT2627210	hsa-miR-4495	CLIP-seq
MIRT2627211	hsa-miR-450b-5p	CLIP-seq
MIRT2627212	hsa-miR-4510	CLIP-seq
MIRT2627213	hsa-miR-4520a-5p	CLIP-seq
MIRT2627214	hsa-miR-4520b-5p	CLIP-seq
MIRT1369067	hsa-miR-4659a-3p	CLIP-seq
MIRT1369068	hsa-miR-4659b-3p	CLIP-seq
MIRT2627215	hsa-miR-4666-5p	CLIP-seq
MIRT2627216	hsa-miR-4668-3p	CLIP-seq
MIRT2627217	hsa-miR-4668-5p	CLIP-seq
MIRT1369069	hsa-miR-4680-3p	CLIP-seq
MIRT2627218	hsa-miR-4690-5p	CLIP-seq
MIRT2332837	hsa-miR-4699-3p	CLIP-seq
MIRT2627219	hsa-miR-4709-3p	CLIP-seq
MIRT2627220	hsa-miR-4717-5p	CLIP-seq
MIRT2627221	hsa-miR-4728-5p	CLIP-seq
MIRT2627222	hsa-miR-4753-3p	CLIP-seq
MIRT2627223	hsa-miR-4755-5p	CLIP-seq
MIRT2627224	hsa-miR-4772-5p	CLIP-seq
MIRT2627225	hsa-miR-4790-3p	CLIP-seq
MIRT2627226	hsa-miR-483-3p	CLIP-seq
MIRT2627227	hsa-miR-486-3p	CLIP-seq
MIRT2627228	hsa-miR-489	CLIP-seq
MIRT2627229	hsa-miR-495	CLIP-seq
MIRT2627230	hsa-miR-513c	CLIP-seq
MIRT2627231	hsa-miR-514b-5p	CLIP-seq
MIRT2627232	hsa-miR-532-5p	CLIP-seq
MIRT2627233	hsa-miR-544b	CLIP-seq
MIRT2627234	hsa-miR-548ad	CLIP-seq
MIRT2627235	hsa-miR-548an	CLIP-seq
MIRT2627236	hsa-miR-548c-3p	CLIP-seq
MIRT2627237	hsa-miR-549	CLIP-seq
MIRT2627238	hsa-miR-561	CLIP-seq
MIRT2627239	hsa-miR-598	CLIP-seq
MIRT2627240	hsa-miR-606	CLIP-seq
MIRT2627241	hsa-miR-767-5p	CLIP-seq
MIRT1369079	hsa-miR-9	CLIP-seq
MIRT2627176	hsa-miR-105	CLIP-seq
MIRT2627177	hsa-miR-122	CLIP-seq
MIRT2691311	hsa-miR-125a-3p	CLIP-seq
MIRT2627181	hsa-miR-1281	CLIP-seq
MIRT2691312	hsa-miR-1298	CLIP-seq
MIRT2627183	hsa-miR-1913	CLIP-seq
MIRT2691313	hsa-miR-2052	CLIP-seq
MIRT2627185	hsa-miR-216a	CLIP-seq
MIRT2627187	hsa-miR-31	CLIP-seq
MIRT2627188	hsa-miR-3117-5p	CLIP-seq
MIRT2627189	hsa-miR-3126-5p	CLIP-seq
MIRT2627190	hsa-miR-3140-5p	CLIP-seq
MIRT2627191	hsa-miR-3148	CLIP-seq
MIRT2691314	hsa-miR-3186-5p	CLIP-seq
MIRT1369057	hsa-miR-3190	CLIP-seq
MIRT2627194	hsa-miR-323-3p	CLIP-seq
MIRT2627195	hsa-miR-324-3p	CLIP-seq
MIRT2627196	hsa-miR-3606	CLIP-seq
MIRT2109638	hsa-miR-3613-3p	CLIP-seq
MIRT2627197	hsa-miR-361-5p	CLIP-seq
MIRT2627198	hsa-miR-3659	CLIP-seq
MIRT2627199	hsa-miR-3675-5p	CLIP-seq
MIRT1369061	hsa-miR-3677-3p	CLIP-seq
MIRT1369062	hsa-miR-371-5p	CLIP-seq
MIRT2691315	hsa-miR-376a	CLIP-seq
MIRT2691316	hsa-miR-376b	CLIP-seq
MIRT1369063	hsa-miR-3911	CLIP-seq
MIRT2691317	hsa-miR-3934	CLIP-seq
MIRT1369066	hsa-miR-4302	CLIP-seq
MIRT2627203	hsa-miR-4307	CLIP-seq
MIRT2627204	hsa-miR-4328	CLIP-seq
MIRT2627205	hsa-miR-4419a	CLIP-seq
MIRT2627208	hsa-miR-4446-5p	CLIP-seq
MIRT2627209	hsa-miR-4480	CLIP-seq
MIRT2627210	hsa-miR-4495	CLIP-seq
MIRT2627211	hsa-miR-450b-5p	CLIP-seq
MIRT2627212	hsa-miR-4510	CLIP-seq
MIRT2627213	hsa-miR-4520a-5p	CLIP-seq
MIRT2627214	hsa-miR-4520b-5p	CLIP-seq
MIRT1369067	hsa-miR-4659a-3p	CLIP-seq
MIRT1369068	hsa-miR-4659b-3p	CLIP-seq
MIRT2627215	hsa-miR-4666-5p	CLIP-seq
MIRT2627216	hsa-miR-4668-3p	CLIP-seq
MIRT2627217	hsa-miR-4668-5p	CLIP-seq
MIRT2332837	hsa-miR-4699-3p	CLIP-seq
MIRT2627219	hsa-miR-4709-3p	CLIP-seq
MIRT2627222	hsa-miR-4753-3p	CLIP-seq
MIRT2627223	hsa-miR-4755-5p	CLIP-seq
MIRT2627225	hsa-miR-4790-3p	CLIP-seq
MIRT2627226	hsa-miR-483-3p	CLIP-seq
MIRT2627227	hsa-miR-486-3p	CLIP-seq
MIRT2627230	hsa-miR-513c	CLIP-seq
MIRT2627231	hsa-miR-514b-5p	CLIP-seq
MIRT2627232	hsa-miR-532-5p	CLIP-seq
MIRT2627233	hsa-miR-544b	CLIP-seq
MIRT2627236	hsa-miR-548c-3p	CLIP-seq
MIRT2627237	hsa-miR-549	CLIP-seq
MIRT2627238	hsa-miR-561	CLIP-seq
MIRT2627239	hsa-miR-598	CLIP-seq
MIRT2691318	hsa-miR-764	CLIP-seq
MIRT1369079	hsa-miR-9	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18057008, 32296183
GO:0005739	Component	Mitochondrion	IDA	11940519
GO:0005768	Component	Endosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11641397
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11940519, 28635961
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	35198730
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006885	Process	Regulation of pH	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	IBA
GO:0015385	Function	Sodium:proton antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	TAS	9507001
GO:0015386	Function	Potassium:proton antiporter activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0030010	Process	Establishment of cell polarity	IMP	20130086
GO:0031901	Component	Early endosome membrane	IDA	11940519, 28635961
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	IMP	35198730
GO:0031901	Component	Early endosome membrane	TAS
GO:0031902	Component	Late endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IMP	35198730
GO:0042802	Function	Identical protein binding	IDA	32277048
GO:0048675	Process	Axon extension	IDA	24035762
GO:0048812	Process	Neuron projection morphogenesis	IDA	24035762
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0051453	Process	Regulation of intracellular pH	IDA	28635961
GO:0051453	Process	Regulation of intracellular pH	IMP	30296617
GO:0055037	Component	Recycling endosome	IBA
GO:0055037	Component	Recycling endosome	IMP	35198730
GO:0055038	Component	Recycling endosome membrane	IDA	11940519, 18057008, 28635961, 30296617
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0097484	Process	Dendrite extension	IDA	24035762
GO:0098719	Process	Sodium ion import across plasma membrane	IBA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300231	11079	ENSG00000198689

Q92581

Protein name

Sodium/hydrogen exchanger 6 (Na(+)/H(+) exchanger 6) (NHE-6) (Solute carrier family 9 member 6)

Protein function

Endosomal Na(+), K(+)/H(+) antiporter (PubMed:15522866, PubMed:28635961, PubMed:31676550, PubMed:32277048). Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+). By facilitating proton efflux, SLC9A6 count

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00999	Na_H_Exchanger	76 → 503	Sodium/hydrogen exchanger family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. High expression in brain, skeletal muscle, and heart, but is also detected at lower levels in most other tissues. {ECO:0000269|PubMed:9507001}.

Sequence

MARRGWRRAPLRRGVGSSPRARRLMRPLWLLLAVGVFDWAGASDGGGGEARAMDEEIVSE
KQAEESHRQDSANLLIFILLLTLTILTIWLFKHRRARFLHETGLAMIYGLLVGLVLRYGI
HVPSDVNNVTLSCEVQSSPTTLLVTFDPEVFFNILLPPIIFYAGYSLKRRHFFRNLGSIL
AYAFLGTAISCFVIGSIMYGCVTLMKVTGQLAGDFYFTDCLLFGAIVSATDPVTVLAIFH
ELQVDVELYALLFGESVLNDAVAIVLSSSIVAYQPAGDNSHTFDVTAMFKSIGIFLGIFS
GSFAMGAATGVVTALVTKFTKLREFQLLETGLFFLMSWSTFLLAEAWGFTGVVAVLFCGI
TQAHYTYNNLSTESQHRTKQLFELLNFLAENFIFSYMGLTLFTFQNHVFNPTFVVGAFVA
IFLGRAANIYPLSLLLNLGRRSKIGSNFQHMMMFAGLRGAMAFALAIRDTATYARQMMFS
TTLLIVFFTVWVFGGGTTAMLSCLHIRVGVDSDQEHLGVPENERRTTKAESAWLFRMWYN
FDHNYLKPLLTHSGPPLTTTLPACCGPIARCLTSPQAYENQEQLKDDDSDLILNDGDISL
TYGDSTVNTEPATSSAPRRFMGNSSEDALDRELAFGDHELVIRGTRLVLPMDDSEPPLNL
LDNTRHGPA

Sequence length

669

Interactions

View interactions

	KEGG		Reactome
	Cardiac muscle contraction		Sodium/Proton exchangers Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Christianson syndrome	Pathogenic; Likely pathogenic	rs398124224, rs2148156632, rs2148190013, rs2148189993, rs149044510, rs2148143998, rs2148169894, rs2148201789, rs2148156504, rs587784398, rs587784399, rs797044508, rs2521182259, rs2521333744, rs2521219756 View all (23 more)	RCV001507034 RCV002032599 RCV002072270 RCV001775316 RCV001784991 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs796053290, rs1603198937	RCV000224024 RCV000850210	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs797044508	RCV005888462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2148143998, rs797044508, rs2148173968, rs1556617455	RCV005924028 RCV005888463 RCV005930294 RCV005899815	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMBLYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTIGMATISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION X-LINKED, SOUTH AFRICAN TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDER, X-LINKED, FEMALE-RESTRICTED, WITH PARKINSONISM AND COGNITIVE IMPAIRMENT	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC9A6-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SLC9A6 (solute carrier family 9 member A6)