SLC12A5 (solute carrier family 12 member 5)

Gene

• Entrez ID: 57468
• Gene name: Solute carrier family 12 member 5
• Gene symbol: SLC12A5
• Synonyms (NCBI Gene): DEE34, EIEE34, EIG14, KCC2, hKCC2
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or infl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142740233	G>A,T	Risk-factor, benign	Missense variant, coding sequence variant
rs368484023	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs548424453	C>A,T	Risk-factor	Coding sequence variant, missense variant
rs750336750	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs863225304	T>C	Pathogenic	Missense variant, coding sequence variant
rs863225305	G>A	Pathogenic	Missense variant, coding sequence variant
rs863225306	T>A	Pathogenic	Missense variant, coding sequence variant
rs1220094830	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs1259210706	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1555863145	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555863593	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555868402	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568858867	G>C	Pathogenic	Splice donor variant
rs1568859798	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568862550	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568866916	TCC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1600590580	G>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT501141	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT501140	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT653758	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT653757	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT653756	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653755	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653754	hsa-miR-5193	HITS-CLIP	23824327
MIRT653753	hsa-miR-6075	HITS-CLIP	23824327
MIRT653752	hsa-miR-4469	HITS-CLIP	23824327
MIRT653751	hsa-miR-4313	HITS-CLIP	23824327
MIRT653750	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT653749	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653748	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT653747	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT501145	hsa-miR-224-5p	PAR-CLIP	24398324
MIRT296112	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT296116	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT296114	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT296113	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT296111	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT296110	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT501144	hsa-miR-548n	PAR-CLIP	24398324
MIRT501143	hsa-miR-548az-5p	PAR-CLIP	24398324
MIRT501142	hsa-miR-548t-5p	PAR-CLIP	24398324
MIRT501141	hsa-miR-3614-5p	PAR-CLIP	24398324
MIRT501140	hsa-miR-6500-3p	PAR-CLIP	24398324
MIRT501139	hsa-miR-203a-3p	PAR-CLIP	24398324
MIRT296117	hsa-miR-7703	PAR-CLIP	24398324
MIRT501138	hsa-miR-4325	PAR-CLIP	24398324
MIRT491373	hsa-miR-433-5p	PAR-CLIP	23592263
MIRT491372	hsa-miR-4285	PAR-CLIP	23592263
MIRT491371	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT491370	hsa-miR-4479	PAR-CLIP	23592263
MIRT491369	hsa-miR-3178	PAR-CLIP	23592263
MIRT491367	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT491368	hsa-miR-4488	PAR-CLIP	23592263
MIRT491366	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT491365	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT491364	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT491363	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT501141	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT501140	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT653758	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT653757	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT653756	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653755	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653754	hsa-miR-5193	HITS-CLIP	23824327
MIRT653753	hsa-miR-6075	HITS-CLIP	23824327
MIRT653752	hsa-miR-4469	HITS-CLIP	23824327
MIRT653751	hsa-miR-4313	HITS-CLIP	23824327
MIRT653750	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT653749	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653748	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT653747	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT501145	hsa-miR-224-5p	PAR-CLIP	24398324
MIRT296112	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT296116	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT296114	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT296113	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT296111	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT296110	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT501144	hsa-miR-548n	PAR-CLIP	24398324
MIRT501143	hsa-miR-548az-5p	PAR-CLIP	24398324
MIRT501142	hsa-miR-548t-5p	PAR-CLIP	24398324
MIRT501141	hsa-miR-3614-5p	PAR-CLIP	24398324
MIRT501140	hsa-miR-6500-3p	PAR-CLIP	24398324
MIRT501139	hsa-miR-203a-3p	PAR-CLIP	24398324
MIRT296117	hsa-miR-7703	PAR-CLIP	24398324
MIRT501138	hsa-miR-4325	PAR-CLIP	24398324
MIRT491373	hsa-miR-433-5p	PAR-CLIP	23592263
MIRT491372	hsa-miR-4285	PAR-CLIP	23592263
MIRT491371	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT491370	hsa-miR-4479	PAR-CLIP	23592263
MIRT491369	hsa-miR-3178	PAR-CLIP	23592263
MIRT491367	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT491368	hsa-miR-4488	PAR-CLIP	23592263
MIRT491366	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT491365	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT491364	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT491363	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT1352020	hsa-miR-1294	CLIP-seq
MIRT1352021	hsa-miR-1305	CLIP-seq
MIRT1352022	hsa-miR-191	CLIP-seq
MIRT1352023	hsa-miR-1972	CLIP-seq
MIRT1352024	hsa-miR-203	CLIP-seq
MIRT1352025	hsa-miR-25	CLIP-seq
MIRT1352026	hsa-miR-3157-3p	CLIP-seq
MIRT1352027	hsa-miR-32	CLIP-seq
MIRT1352028	hsa-miR-3202	CLIP-seq
MIRT1352029	hsa-miR-33a	CLIP-seq
MIRT1352030	hsa-miR-33b	CLIP-seq
MIRT1352031	hsa-miR-34c-3p	CLIP-seq
MIRT1352032	hsa-miR-363	CLIP-seq
MIRT1352033	hsa-miR-367	CLIP-seq
MIRT1352034	hsa-miR-4271	CLIP-seq
MIRT1352035	hsa-miR-4317	CLIP-seq
MIRT1352036	hsa-miR-4650-5p	CLIP-seq
MIRT1352037	hsa-miR-4707-5p	CLIP-seq
MIRT1352038	hsa-miR-4710	CLIP-seq
MIRT1352039	hsa-miR-4725-3p	CLIP-seq
MIRT1352040	hsa-miR-4747-5p	CLIP-seq
MIRT1352041	hsa-miR-4792	CLIP-seq
MIRT1352042	hsa-miR-548t	CLIP-seq
MIRT1352043	hsa-miR-583	CLIP-seq
MIRT1352044	hsa-miR-624	CLIP-seq
MIRT1352045	hsa-miR-874	CLIP-seq
MIRT1352046	hsa-miR-92a	CLIP-seq
MIRT1352047	hsa-miR-92b	CLIP-seq
MIRT1352048	hsa-miR-941	CLIP-seq
MIRT1352049	hsa-miR-95	CLIP-seq
MIRT1352050	hsa-miR-1183	CLIP-seq
MIRT1352051	hsa-miR-1200	CLIP-seq
MIRT1352052	hsa-miR-1281	CLIP-seq
MIRT1352020	hsa-miR-1294	CLIP-seq
MIRT1352021	hsa-miR-1305	CLIP-seq
MIRT1352053	hsa-miR-139-5p	CLIP-seq
MIRT1352054	hsa-miR-142-5p	CLIP-seq
MIRT1352055	hsa-miR-146b-3p	CLIP-seq
MIRT1352056	hsa-miR-1538	CLIP-seq
MIRT1352057	hsa-miR-1911	CLIP-seq
MIRT1352058	hsa-miR-1912	CLIP-seq
MIRT1352024	hsa-miR-203	CLIP-seq
MIRT1352059	hsa-miR-224	CLIP-seq
MIRT1352025	hsa-miR-25	CLIP-seq
MIRT1352060	hsa-miR-3130-5p	CLIP-seq
MIRT1352061	hsa-miR-3135b	CLIP-seq
MIRT1352026	hsa-miR-3157-3p	CLIP-seq
MIRT1352062	hsa-miR-3173-5p	CLIP-seq
MIRT1352027	hsa-miR-32	CLIP-seq
MIRT1352029	hsa-miR-33a	CLIP-seq
MIRT1352030	hsa-miR-33b	CLIP-seq
MIRT1352063	hsa-miR-340	CLIP-seq
MIRT1352032	hsa-miR-363	CLIP-seq
MIRT1352064	hsa-miR-3652	CLIP-seq
MIRT1352033	hsa-miR-367	CLIP-seq
MIRT1352065	hsa-miR-3689d	CLIP-seq
MIRT1352066	hsa-miR-371b-3p	CLIP-seq
MIRT1352067	hsa-miR-376c	CLIP-seq
MIRT1352068	hsa-miR-4267	CLIP-seq
MIRT1352069	hsa-miR-4269	CLIP-seq
MIRT1352070	hsa-miR-4274	CLIP-seq
MIRT1352071	hsa-miR-4283	CLIP-seq
MIRT1352035	hsa-miR-4317	CLIP-seq
MIRT1352072	hsa-miR-4430	CLIP-seq
MIRT1352073	hsa-miR-4482	CLIP-seq
MIRT1352074	hsa-miR-4489	CLIP-seq
MIRT1352075	hsa-miR-4492	CLIP-seq
MIRT1352076	hsa-miR-4498	CLIP-seq
MIRT1352077	hsa-miR-450b-5p	CLIP-seq
MIRT1352078	hsa-miR-4514	CLIP-seq
MIRT1352079	hsa-miR-4519	CLIP-seq
MIRT1352080	hsa-miR-455-5p	CLIP-seq
MIRT1352081	hsa-miR-4632	CLIP-seq
MIRT1352036	hsa-miR-4650-5p	CLIP-seq
MIRT1352082	hsa-miR-4665-3p	CLIP-seq
MIRT1352083	hsa-miR-4692	CLIP-seq
MIRT1352084	hsa-miR-4699-3p	CLIP-seq
MIRT1352038	hsa-miR-4710	CLIP-seq
MIRT1352085	hsa-miR-4740-3p	CLIP-seq
MIRT1352086	hsa-miR-4742-5p	CLIP-seq
MIRT1352087	hsa-miR-4745-3p	CLIP-seq
MIRT1352088	hsa-miR-4747-3p	CLIP-seq
MIRT1352089	hsa-miR-4757-5p	CLIP-seq
MIRT1352090	hsa-miR-4758-3p	CLIP-seq
MIRT1352091	hsa-miR-4781-5p	CLIP-seq
MIRT1352092	hsa-miR-4790-3p	CLIP-seq
MIRT1352041	hsa-miR-4792	CLIP-seq
MIRT1352093	hsa-miR-494	CLIP-seq
MIRT1352094	hsa-miR-503	CLIP-seq
MIRT1352095	hsa-miR-516a-3p	CLIP-seq
MIRT1352042	hsa-miR-548t	CLIP-seq
MIRT1352043	hsa-miR-583	CLIP-seq
MIRT1352096	hsa-miR-606	CLIP-seq
MIRT1352044	hsa-miR-624	CLIP-seq
MIRT1352097	hsa-miR-633	CLIP-seq
MIRT1352098	hsa-miR-659	CLIP-seq
MIRT1352099	hsa-miR-762	CLIP-seq
MIRT1352100	hsa-miR-766	CLIP-seq
MIRT1352045	hsa-miR-874	CLIP-seq
MIRT1352101	hsa-miR-885-3p	CLIP-seq
MIRT1352046	hsa-miR-92a	CLIP-seq
MIRT1352047	hsa-miR-92b	CLIP-seq
MIRT1352102	hsa-miR-940	CLIP-seq
MIRT1921305	hsa-miR-1224-3p	CLIP-seq
MIRT1921306	hsa-miR-1260	CLIP-seq
MIRT1921307	hsa-miR-1260b	CLIP-seq
MIRT1921308	hsa-miR-1280	CLIP-seq
MIRT1921309	hsa-miR-188-3p	CLIP-seq
MIRT1921310	hsa-miR-3156-3p	CLIP-seq
MIRT1921311	hsa-miR-4297	CLIP-seq
MIRT2104317	hsa-miR-1915	CLIP-seq
MIRT1352101	hsa-miR-885-3p	CLIP-seq
MIRT1352068	hsa-miR-4267	CLIP-seq
MIRT1352021	hsa-miR-1305	CLIP-seq
MIRT2459457	hsa-miR-1292	CLIP-seq
MIRT2459458	hsa-miR-1321	CLIP-seq
MIRT2104317	hsa-miR-1915	CLIP-seq
MIRT2459459	hsa-miR-4270	CLIP-seq
MIRT2459460	hsa-miR-4437	CLIP-seq
MIRT2459461	hsa-miR-4441	CLIP-seq
MIRT1352038	hsa-miR-4710	CLIP-seq
MIRT2459462	hsa-miR-4717-5p	CLIP-seq
MIRT2459463	hsa-miR-4739	CLIP-seq
MIRT2459464	hsa-miR-4756-5p	CLIP-seq
MIRT1352041	hsa-miR-4792	CLIP-seq
MIRT1352043	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IDA	12106695
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006813	Process	Potassium ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006884	Process	Cell volume homeostasis	IBA
GO:0006971	Process	Hypotonic response	IDA	12106695
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007612	Process	Learning	IEA
GO:0008519	Function	Ammonium channel activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IDA	26333769
GO:0015293	Function	Symporter activity	IEA
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IEA
GO:0015379	Function	Potassium:chloride symporter activity	IBA
GO:0015379	Function	Potassium:chloride symporter activity	IDA	12106695
GO:0015379	Function	Potassium:chloride symporter activity	IEA
GO:0015379	Function	Potassium:chloride symporter activity	TAS
GO:0016020	Component	Membrane	IDA	12106695
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	24393035
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030644	Process	Intracellular chloride ion homeostasis	IDA	26333769
GO:0032502	Process	Developmental process	IEA
GO:0032590	Component	Dendrite membrane	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0040040	Process	Thermosensory behavior	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	16227993
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IDA	16227993
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051452	Process	Intracellular pH reduction	IEA
GO:0055064	Process	Chloride ion homeostasis	IBA
GO:0055075	Process	Potassium ion homeostasis	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060996	Process	Dendritic spine development	IDA	24668262
GO:0060996	Process	Dendritic spine development	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071944	Component	Cell periphery	IDA	16227993
GO:0071944	Component	Cell periphery	IEA
GO:0071944	Component	Cell periphery	ISS
GO:0072488	Process	Ammonium transmembrane transport	IEA
GO:0098970	Process	Postsynaptic neurotransmitter receptor diffusion trapping	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 606726
• HGNC: 13818
• e!Ensembl: ENSG00000124140

Protein

• UniProt ID: Q9H2X9
• Protein name: Solute carrier family 12 member 5 (Electroneutral potassium-chloride cotransporter 2) (K-Cl cotransporter 2) (hKCC2) (Neuronal K-Cl cotransporter)
• Protein function: Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis (PubMed:12106695). As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chl
• PDB: 6M23, 7D8Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00324	AA_permease	125 → 328	Amino acid permease	Family
  PF00324	AA_permease	412 → 699	Amino acid permease	Family
  PF03522	SLC12	711 → 837	Solute carrier family 12	Family
  PF03522	SLC12	830 → 983	Solute carrier family 12	Family
  PF03522	SLC12	1030 → 1139	Solute carrier family 12	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain specific. Detected in neuronal cells. {ECO:0000269|PubMed:12106695}.
• Sequence:

  MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKG
  KEYDGKNMALFEEEMDTSPMVSSLLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRM
  GTFMGVYLPCLQNIFGVILFLRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNG
  VVPAGGSYYMISRSLGPEFGGAVGLCFYLGTTFAGAMYILGTIEILLAYLFPAMAIFKAE
  DASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFALVFLGCVILSILAIYAGVIKS
  AFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFLNATCDEYFTR
  NNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMT
  SYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACI
  EGVVLRDKFGEAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDG
  IVPFLQVFGHGKANGEPTWALLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACA
  VQTLLRTPNWRPRFRYYHWTLSFLGMSLCLALMFICSWYYALVAMLIAGLIYKYIEYRGA
  EKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVLVRVDQDQNVVHPQLLSLTSQ
  LKAGKGLTIVGSVLEGTFLENHPQAQRAEESIRRLMEAEKVKGFCQVVISSNLRDGVSHL
  IQSGGLGGLQHNTVLVGWPRNWRQKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGN
  PERFSEGSIDVWWIVHDGGMLMLLPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTT
  FLYHLRITAEVEVVEMHESDISAYTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDES
  RGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEG
  ETDPEKVHLTWTKDKSVAEKNKGPSPVSSEGIKDFFSMKPEWENLNQSNVRRMHTAVRLN
  EVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEHLDRVMLVRGGGREVITIYS

• Sequence length: 1139

Pathways

KEGG:

GABAergic synapse

Reactome:

Cation-coupled Chloride cotransporters

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
Developmental and epileptic encephalopathy, 34	Pathogenic; Likely pathogenic	rs2145484584, rs2145493702, rs2145496676, rs2145503665, rs2145502127, rs2145503701, rs2145507682, rs2145497450, rs2145496726, rs2515637434, rs766589514, rs2084696977, rs2084483775, rs2515639213, rs2515641701, rs2515654961, rs142641765, rs2515652318, rs863225304, rs863225305, rs863225306, rs2515639218, rs2515631656, rs771263913, rs2515653495, rs2515644515, rs2515641952, rs2515649366, rs1555863593, rs1555868402, rs1555863145, rs1600590580, rs2084489672, rs2084648529, rs2084424489, rs2084424722	RCV001382280 RCV001383648 RCV001389905 RCV001386075 RCV001937317 RCV001901949 RCV001903437 RCV001977824 RCV001932819 RCV002285092 RCV002285093 RCV003112011 RCV002881414 RCV002908357 RCV002919071 RCV002909722 RCV002962619 RCV002966293 RCV000202258 RCV000202007 RCV000202151 RCV003022865 RCV002996835 RCV003035682 RCV003131449 RCV003591341 RCV003592140 RCV003755565 RCV000556073 RCV000585846 RCV000652720 RCV000816690 RCV001062140 RCV001052242 RCV001062640 RCV001203211 RCV001207933	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, IDIOPATHIC GENERALIZED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, idiopathic generalized, susceptibility to, 14	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GENERALIZED EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC12A5-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	37149819, 39650656	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	26350950	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Associate	40074080	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Stimulate	18024369	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	39370816	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Stimulate	36645171	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	33399102	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Stimulate	36645171	★☆☆☆☆ Found in Text Mining only
Cell Transformation Neoplastic	Associate	36645171	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	24699064, 25947013	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Associate	22496567	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	27436767, 40074080	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	18602983	★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	17284302, 24928907, 27436767, 32064760, 37095367, 40074080	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Idiopathic Generalized	Associate	34573383	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Associate	17284302	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Inhibit	22447678	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	32510239, 33423377	★☆☆☆☆ Found in Text Mining only
Glioma	Associate	25009229	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Associate	31796123	★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Associate	18076645, 18675803	★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Inhibit	25307426	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	35678782	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Associate	18602983	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathies	Associate	20467335	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	28333147	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Associate	17284302	★☆☆☆☆ Found in Text Mining only
Mental Disorders	Associate	32064760	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Associate	22496567	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multifocal Choroiditis	Associate	27436767	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	25947013, 32449280	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	28333147	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	21911617, 28333147, 32449280, 34630736, 35361846, 36645171, 39370816	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	25947013, 36609444	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Associate	31796123	★☆☆☆☆ Found in Text Mining only
Neurologic Manifestations	Associate	36609444	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Stimulate	36609444	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms Castration Resistant	Stimulate	36609444	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Inhibit	23894354	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Associate	31796123	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	22496567, 40074080	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Associate	18076645, 25307426, 27436767, 32064760	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures Febrile	Associate	35414199	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Associate	35280112	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Associate	22447678	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	28333147	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Stimulate	32449280	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	21911617	★☆☆☆☆ Found in Text Mining only
Uterine Cervicitis	Associate	21911617	★☆☆☆☆ Found in Text Mining only