KCNJ10 (potassium inwardly rectifying channel subfamily J member 10)

Gene

• Entrez ID: 3766
• Gene name: Potassium inwardly rectifying channel subfamily J member 10
• Gene symbol: KCNJ10
• Synonyms (NCBI Gene): BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME
• Chromosome: 1
• Chromosome location: 1q23.2
• Summary: This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium cha

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853066	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs137853067	G>A	Pathogenic	Stop gained, coding sequence variant
rs137853068	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853069	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853070	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853071	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853072	C>G	Pathogenic	Missense variant, coding sequence variant
rs137853073	G>T	Pathogenic	Missense variant, coding sequence variant
rs137853074	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138943405	G>A	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs141553756	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142228240	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, synonymous variant
rs144495959	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant
rs145947380	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146426296	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373899425	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs387906834	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs757159382	A>C,G	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs775848365	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs796052604	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs796052606	C>A,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1404425302	A>G	Pathogenic	Missense variant, coding sequence variant
rs1557967748	C>-	Pathogenic	Stop gained, coding sequence variant
rs1571265496	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438674	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western blot	23950153
MIRT438674	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western blot	23950153
MIRT722465	hsa-miR-8087	HITS-CLIP	19536157
MIRT722464	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT722463	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT722462	hsa-miR-454-5p	HITS-CLIP	19536157
MIRT722461	hsa-miR-617	HITS-CLIP	19536157
MIRT722460	hsa-miR-3909	HITS-CLIP	19536157
MIRT722459	hsa-miR-6852-3p	HITS-CLIP	19536157
MIRT722458	hsa-miR-5701	HITS-CLIP	19536157
MIRT722457	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT722456	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT722455	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT722454	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT607436	hsa-miR-8485	HITS-CLIP	23313552
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT674822	hsa-miR-4476	HITS-CLIP	23824327
MIRT674821	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT638562	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT638561	hsa-miR-3655	HITS-CLIP	23824327
MIRT638560	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT638559	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	23824327
MIRT607436	hsa-miR-8485	HITS-CLIP	24906430
MIRT607436	hsa-miR-8485	HITS-CLIP	24906430
MIRT560498	hsa-miR-7114-5p	PAR-CLIP	20371350
MIRT560499	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560496	hsa-miR-6077	PAR-CLIP	20371350
MIRT560497	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560495	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT575904	hsa-miR-8485	HITS-CLIP	27418678
MIRT575904	hsa-miR-8485	HITS-CLIP	27418678
MIRT722465	hsa-miR-8087	HITS-CLIP	19536157
MIRT722464	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT722463	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT722462	hsa-miR-454-5p	HITS-CLIP	19536157
MIRT722461	hsa-miR-617	HITS-CLIP	19536157
MIRT722460	hsa-miR-3909	HITS-CLIP	19536157
MIRT722459	hsa-miR-6852-3p	HITS-CLIP	19536157
MIRT722458	hsa-miR-5701	HITS-CLIP	19536157
MIRT722457	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT722456	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT722455	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT722454	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT575904	hsa-miR-8485	HITS-CLIP	23313552
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT674822	hsa-miR-4476	HITS-CLIP	23824327
MIRT674821	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT638562	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT638561	hsa-miR-3655	HITS-CLIP	23824327
MIRT638560	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT638559	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT575904	hsa-miR-8485	HITS-CLIP	23824327
MIRT560498	hsa-miR-7114-5p	PAR-CLIP	20371350
MIRT560499	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560496	hsa-miR-6077	PAR-CLIP	20371350
MIRT560497	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT560495	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT441854	hsa-miR-708-3p	PAR-CLIP	22100165
MIRT441853	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT441852	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT441851	hsa-miR-597-3p	PAR-CLIP	22100165
MIRT441850	hsa-miR-152-5p	PAR-CLIP	22100165
MIRT441849	hsa-miR-203a-5p	PAR-CLIP	22100165
MIRT441848	hsa-miR-4633-5p	PAR-CLIP	22100165
MIRT441847	hsa-miR-491-3p	PAR-CLIP	22100165
MIRT441846	hsa-miR-578	PAR-CLIP	22100165
MIRT1081172	hsa-miR-106a	CLIP-seq
MIRT1081173	hsa-miR-106b	CLIP-seq
MIRT1081174	hsa-miR-1298	CLIP-seq
MIRT1081175	hsa-miR-130a	CLIP-seq
MIRT1081176	hsa-miR-130b	CLIP-seq
MIRT1081177	hsa-miR-1323	CLIP-seq
MIRT1081178	hsa-miR-17	CLIP-seq
MIRT1081179	hsa-miR-20a	CLIP-seq
MIRT1081180	hsa-miR-20b	CLIP-seq
MIRT1081181	hsa-miR-2110	CLIP-seq
MIRT1081182	hsa-miR-2113	CLIP-seq
MIRT1081183	hsa-miR-2276	CLIP-seq
MIRT1081184	hsa-miR-298	CLIP-seq
MIRT1081185	hsa-miR-301a	CLIP-seq
MIRT1081186	hsa-miR-301b	CLIP-seq
MIRT1081187	hsa-miR-3119	CLIP-seq
MIRT1081188	hsa-miR-3145-3p	CLIP-seq
MIRT1081189	hsa-miR-3150b-3p	CLIP-seq
MIRT1081190	hsa-miR-3185	CLIP-seq
MIRT1081191	hsa-miR-320e	CLIP-seq
MIRT1081192	hsa-miR-3591-5p	CLIP-seq
MIRT1081193	hsa-miR-3609	CLIP-seq
MIRT1081194	hsa-miR-3666	CLIP-seq
MIRT1081195	hsa-miR-3675-5p	CLIP-seq
MIRT1081196	hsa-miR-3691-3p	CLIP-seq
MIRT1081197	hsa-miR-3908	CLIP-seq
MIRT1081198	hsa-miR-3942-5p	CLIP-seq
MIRT1081199	hsa-miR-3978	CLIP-seq
MIRT1081200	hsa-miR-4257	CLIP-seq
MIRT1081201	hsa-miR-4260	CLIP-seq
MIRT1081202	hsa-miR-4271	CLIP-seq
MIRT1081203	hsa-miR-4295	CLIP-seq
MIRT1081204	hsa-miR-433	CLIP-seq
MIRT1081205	hsa-miR-4422	CLIP-seq
MIRT1081206	hsa-miR-4436b-3p	CLIP-seq
MIRT1081207	hsa-miR-4473	CLIP-seq
MIRT1081208	hsa-miR-4474-5p	CLIP-seq
MIRT1081209	hsa-miR-4488	CLIP-seq
MIRT1081210	hsa-miR-451b	CLIP-seq
MIRT1081211	hsa-miR-454	CLIP-seq
MIRT1081212	hsa-miR-4667-5p	CLIP-seq
MIRT1081213	hsa-miR-4671-3p	CLIP-seq
MIRT1081214	hsa-miR-4685-5p	CLIP-seq
MIRT1081215	hsa-miR-4697-5p	CLIP-seq
MIRT1081216	hsa-miR-4700-5p	CLIP-seq
MIRT1081217	hsa-miR-4703-5p	CLIP-seq
MIRT1081218	hsa-miR-4708-3p	CLIP-seq
MIRT1081219	hsa-miR-4725-3p	CLIP-seq
MIRT1081220	hsa-miR-4731-5p	CLIP-seq
MIRT1081221	hsa-miR-4766-3p	CLIP-seq
MIRT1081222	hsa-miR-4768-5p	CLIP-seq
MIRT1081223	hsa-miR-4772-3p	CLIP-seq
MIRT1081224	hsa-miR-4784	CLIP-seq
MIRT1081225	hsa-miR-4786-3p	CLIP-seq
MIRT1081226	hsa-miR-4790-3p	CLIP-seq
MIRT1081227	hsa-miR-4795-5p	CLIP-seq
MIRT1081228	hsa-miR-4796-3p	CLIP-seq
MIRT1081229	hsa-miR-486-3p	CLIP-seq
MIRT1081230	hsa-miR-488	CLIP-seq
MIRT1081231	hsa-miR-519a	CLIP-seq
MIRT1081232	hsa-miR-519b-3p	CLIP-seq
MIRT1081233	hsa-miR-519c-3p	CLIP-seq
MIRT1081234	hsa-miR-519d	CLIP-seq
MIRT1081235	hsa-miR-548ah	CLIP-seq
MIRT1081236	hsa-miR-548o	CLIP-seq
MIRT1081237	hsa-miR-582-3p	CLIP-seq
MIRT1081238	hsa-miR-599	CLIP-seq
MIRT1081239	hsa-miR-621	CLIP-seq
MIRT1081240	hsa-miR-760	CLIP-seq
MIRT1081241	hsa-miR-891b	CLIP-seq
MIRT1081242	hsa-miR-892b	CLIP-seq
MIRT1081243	hsa-miR-93	CLIP-seq
MIRT2020131	hsa-miR-1229	CLIP-seq
MIRT2020132	hsa-miR-128	CLIP-seq
MIRT2020133	hsa-miR-361-3p	CLIP-seq
MIRT2020134	hsa-miR-3679-3p	CLIP-seq
MIRT2020135	hsa-miR-4659a-3p	CLIP-seq
MIRT2020136	hsa-miR-4659b-3p	CLIP-seq
MIRT2020137	hsa-miR-4715-5p	CLIP-seq
MIRT2020138	hsa-miR-4726-3p	CLIP-seq
MIRT2020139	hsa-miR-4733-3p	CLIP-seq
MIRT2020140	hsa-miR-580	CLIP-seq
MIRT2020141	hsa-miR-942	CLIP-seq
MIRT2251958	hsa-miR-1279	CLIP-seq
MIRT2020132	hsa-miR-128	CLIP-seq
MIRT2251959	hsa-miR-1305	CLIP-seq
MIRT2020133	hsa-miR-361-3p	CLIP-seq
MIRT2020134	hsa-miR-3679-3p	CLIP-seq
MIRT2020138	hsa-miR-4726-3p	CLIP-seq
MIRT2251960	hsa-miR-607	CLIP-seq
MIRT2389639	hsa-miR-1197	CLIP-seq
MIRT2389640	hsa-miR-27a	CLIP-seq
MIRT2389641	hsa-miR-27b	CLIP-seq
MIRT2389642	hsa-miR-4436a	CLIP-seq
MIRT2389643	hsa-miR-4700-3p	CLIP-seq
MIRT2389644	hsa-miR-513a-5p	CLIP-seq
MIRT1081205	hsa-miR-4422	CLIP-seq
MIRT2555238	hsa-miR-555	CLIP-seq
MIRT2555239	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	20651251
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	17628813, 19931615, 24561201, 25416956
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8995301
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	8995301
GO:0007601	Process	Visual perception	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	TAS	8995301
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	20651251
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022010	Process	Central nervous system myelination	IEA
GO:0030001	Process	Metal ion transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IBA
GO:0035865	Process	Cellular response to potassium ion	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0044297	Component	Cell body	IEA
GO:0044297	Component	Cell body	ISS
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051935	Process	Glutamate reuptake	IEA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0060075	Process	Regulation of resting membrane potential	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	20651251
GO:0097449	Component	Astrocyte projection	IEA
GO:0097449	Component	Astrocyte projection	ISS
GO:0097546	Component	Ciliary base	IEA
GO:0098793	Component	Presynapse	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 602208
• HGNC: 6256
• e!Ensembl: ENSG00000177807

Protein

• UniProt ID: P78508
• Protein name: ATP-sensitive inward rectifier potassium channel 10 (ATP-dependent inwardly rectifying potassium channel Kir4.1) (Inward rectifier K(+) channel Kir1.2) (Potassium channel, inwardly rectifying subfamily J member 10)
• Protein function: May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:899
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01007	IRK	31 → 172	Inward rectifier potassium channel transmembrane domain	Domain
  PF17655	IRK_C	179 → 350	Inward rectifier potassium channel C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney (at protein level) (PubMed:24561201). In the nephron, expressed in the distal convoluted tubule, the connecting tubule, the collecting duct and cortical thick ascending limbs (PubMed:20651251). {ECO:0000269|PubMed:2
• Sequence:

  MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFI
  DMQWRYKLLLFSATFAGTWFLFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFL
  FSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIFITGTFLAKIARPKKRAETIR
  FSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
  DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSY
  LPEEILWGYEFTPAISLSASGKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEES
  LREQAEKEGSALSVRISNV

• Sequence length: 379

Pathways

KEGG:

Gastric acid secretion
Huntington disease

Reactome:

Activation of G protein gated Potassium channels
Potassium transport channels
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

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
Abnormality of the nervous system	Likely pathogenic	rs1571265375	RCV001836909	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 4	Likely pathogenic; Pathogenic	rs137853067, rs137853070, rs137853071, rs137853073	RCV002496303 RCV001536078 RCV002490337 RCV000007895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral sensorineural hearing impairment	Pathogenic	rs137853066	RCV001003572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Pathogenic	rs137853066	RCV001003572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EAST syndrome	Likely pathogenic; Pathogenic	rs1648622680, rs765409185, rs796052606, rs137853066, rs137853067, rs137853068, rs137853069, rs137853070, rs137853071, rs137853072, rs137853073, rs2525429636, rs2525431823, rs2525431053, rs2525430986, rs2525431132, rs387906834, rs757159382, rs1557967748, rs1648624751	RCV001730055 RCV001897488 RCV005860029 RCV000007888 RCV000007889 RCV000007890 RCV000007891 RCV000007892 RCV000007893 RCV000007894 RCV005042011 RCV003316895 RCV003618431 RCV003618433 RCV003618493 RCV003618900 RCV003985003 RCV000023175 RCV000023176 RCV000023177 RCV001043642	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Pathogenic	rs137853066	RCV001003572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pendred syndrome	Likely pathogenic; Pathogenic	rs137853067, rs137853070, rs137853071	RCV002496303 RCV001536078 RCV002490337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular dysfunction	Pathogenic	rs137853066	RCV001003572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SeSAME-like syndrome	Likely pathogenic; Pathogenic	rs1404425302, rs1571265496	RCV000853556 RCV000853557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic diplegia	Pathogenic	rs137853066	RCV001003572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing loss, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KCNJ10-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LITTLES DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Mixed	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL KINESIGENIC DYSKINESIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENDREDS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	39603277	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16925593		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27182706	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	21300747, 23924083	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31722434	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21458570, 30304693, 31722434		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31722434		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31722434	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	21633011		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28445150	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27182706	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Early Onset	Cerebellar Ataxia	BEFREE	29476442		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	31722434	Associate	★☆☆☆☆ Found in Text Mining only
Compensated hypothyroidism	Compensated hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	23869231	Associate	★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	CLINVAR_DG	19426954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	GENOMICS_ENGLAND_DG	9367690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	25008548	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35262732	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12401729		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	35262732	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	31640787	Associate	★☆☆☆☆ Found in Text Mining only
EAST syndrome	EAST Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	22612257	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15120748, 19665252, 20651251, 21221631, 21300747, 21458570, 21633011, 21748805, 23965030, 25008907, 29115470, 31722434		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	21300747, 23924083, 23965030, 25874548, 31722434, 40142207	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	25874548	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	25874548	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	15725393, 25874548		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	19864112, 23270518		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	34607911	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28445150, 38150033	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38150033	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34607911	Associate	★☆☆☆☆ Found in Text Mining only
Glycosylphosphatidylinositol deficiency	Glycosylphosphatidylinositol Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	36499699	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	21300747	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine familial type 2	Hemiplegic migraine	Pubtator	17727731	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic alkalosis	Hypokalemia	BEFREE	21633011		★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	15725393, 25008907		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21458570		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31640787	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	21849804, 23457544, 24193250		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	38150033	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	20651251		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	24070676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	25008548, 31328572	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	24070676		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	19426954		★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pendred syndrome	Pendred syndrome	Pubtator	23965030, 30268946	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pendred`s syndrome	Pendred Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20933057		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23965030, 25874548, 32233732	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	BEFREE	19289823, 19420365, 20651251, 20807765, 21088294, 21221631, 21300747, 21633011, 21849804, 22907601, 23471908, 23924083, 24193250, 29476442, 29666984, 29722015, 30110571, 31640787, 31781151		★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	ORPHANET_DG	19289823		★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	UNIPROT_DG	19289823, 19420365, 22612257, 24561201		★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	GENOMICS_ENGLAND_DG	21849804, 9367690		★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	27182706	Associate	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	23270518		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	38165228	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	25008907		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral deafness	Deafness	BEFREE	20621367		★☆☆☆☆ Found in Text Mining only