SCN9A (sodium voltage-gated channel alpha subunit 9)

Gene

• Entrez ID: 6335
• Gene name: Sodium voltage-gated channel alpha subunit 9
• Gene symbol: SCN9A
• Synonyms (NCBI Gene): ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP
• Chromosome: 2
• Chromosome location: 2q24.3
• Summary: This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs71428908	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs80356468	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs80356469	A>G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs80356470	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs121908916	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs121908920	T>C	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant
rs121908921	G>A,T	Pathogenic	Non coding transcript variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs188814235	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200972952	G>A,T	Pathogenic, uncertain-significance	Genic upstream transcript variant, intron variant, upstream transcript variant
rs201905108	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs267607030	T>C	Pathogenic, likely-benign	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs376908183	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, synonymous variant
rs377543079	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs755067851	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1553498017	C>A	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1559027674	CA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559030991	CTT>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, inframe deletion, genic upstream transcript variant, intron variant, non coding transcript variant
rs1574903287	->AA	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574906521	TGGGTTATTCATGGTCA>C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018700	hsa-miR-335-5p	Microarray	18185580
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527150	hsa-miR-4263	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT527155	hsa-miR-1323	PAR-CLIP	22012620
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	22012620
MIRT527153	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT527152	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT527151	hsa-miR-3977	PAR-CLIP	22012620
MIRT527150	hsa-miR-4263	PAR-CLIP	22012620
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT527155	hsa-miR-1323	PAR-CLIP	26701625
MIRT527155	hsa-miR-1323	PAR-CLIP	26701625
MIRT527155	hsa-miR-1323	PAR-CLIP	26701625
MIRT527152	hsa-miR-188-3p	PAR-CLIP	26701625
MIRT527152	hsa-miR-188-3p	PAR-CLIP	26701625
MIRT527152	hsa-miR-188-3p	PAR-CLIP	26701625
MIRT527151	hsa-miR-3977	PAR-CLIP	26701625
MIRT527151	hsa-miR-3977	PAR-CLIP	26701625
MIRT527151	hsa-miR-3977	PAR-CLIP	26701625
MIRT527153	hsa-miR-532-3p	PAR-CLIP	26701625
MIRT527153	hsa-miR-532-3p	PAR-CLIP	26701625
MIRT527153	hsa-miR-532-3p	PAR-CLIP	26701625
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	26701625
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	26701625
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	26701625
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	26701625
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	26701625
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	26701625
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527150	hsa-miR-4263	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT527155	hsa-miR-1323	PAR-CLIP	22012620
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	22012620
MIRT527153	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT527152	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT527151	hsa-miR-3977	PAR-CLIP	22012620
MIRT527150	hsa-miR-4263	PAR-CLIP	22012620
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT1330303	hsa-miR-1207-5p	CLIP-seq
MIRT1330304	hsa-miR-3143	CLIP-seq
MIRT1330305	hsa-miR-3179	CLIP-seq
MIRT1330306	hsa-miR-3622b-5p	CLIP-seq
MIRT1330307	hsa-miR-3921	CLIP-seq
MIRT1330308	hsa-miR-4645-3p	CLIP-seq
MIRT1330309	hsa-miR-4645-5p	CLIP-seq
MIRT1330310	hsa-miR-4653-5p	CLIP-seq
MIRT1330311	hsa-miR-4662a-5p	CLIP-seq
MIRT1330312	hsa-miR-4673	CLIP-seq
MIRT1330313	hsa-miR-4676-5p	CLIP-seq
MIRT1330314	hsa-miR-4736	CLIP-seq
MIRT1330315	hsa-miR-4755-3p	CLIP-seq
MIRT1330316	hsa-miR-4763-3p	CLIP-seq
MIRT1330317	hsa-miR-4766-5p	CLIP-seq
MIRT1330318	hsa-miR-4768-5p	CLIP-seq
MIRT1330319	hsa-miR-4781-3p	CLIP-seq
MIRT1330320	hsa-miR-488	CLIP-seq
MIRT1330321	hsa-miR-543	CLIP-seq
MIRT1330322	hsa-miR-575	CLIP-seq
MIRT1330323	hsa-miR-602	CLIP-seq
MIRT1553248	hsa-miR-1285	CLIP-seq
MIRT1553249	hsa-miR-3187-5p	CLIP-seq
MIRT1553250	hsa-miR-612	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq
MIRT1330303	hsa-miR-1207-5p	CLIP-seq
MIRT2097841	hsa-miR-338-3p	CLIP-seq
MIRT1330314	hsa-miR-4736	CLIP-seq
MIRT1330316	hsa-miR-4763-3p	CLIP-seq
MIRT1330319	hsa-miR-4781-3p	CLIP-seq
MIRT2322126	hsa-miR-105	CLIP-seq
MIRT2322127	hsa-miR-1273e	CLIP-seq
MIRT2322128	hsa-miR-1827	CLIP-seq
MIRT2322129	hsa-miR-24	CLIP-seq
MIRT2322130	hsa-miR-296-3p	CLIP-seq
MIRT2322131	hsa-miR-3182	CLIP-seq
MIRT1330306	hsa-miR-3622b-5p	CLIP-seq
MIRT2322132	hsa-miR-3661	CLIP-seq
MIRT2322133	hsa-miR-3689a-3p	CLIP-seq
MIRT2322134	hsa-miR-3689c	CLIP-seq
MIRT2322135	hsa-miR-3929	CLIP-seq
MIRT2322136	hsa-miR-4284	CLIP-seq
MIRT2322137	hsa-miR-4419b	CLIP-seq
MIRT2322138	hsa-miR-4459	CLIP-seq
MIRT2322139	hsa-miR-4478	CLIP-seq
MIRT2322140	hsa-miR-4649-3p	CLIP-seq
MIRT2322141	hsa-miR-4722-5p	CLIP-seq
MIRT2322142	hsa-miR-4728-5p	CLIP-seq
MIRT2322143	hsa-miR-4779	CLIP-seq
MIRT2322144	hsa-miR-4802-3p	CLIP-seq
MIRT2322145	hsa-miR-485-5p	CLIP-seq
MIRT2322146	hsa-miR-548n	CLIP-seq
MIRT2322147	hsa-miR-548t	CLIP-seq
MIRT2322148	hsa-miR-561	CLIP-seq
MIRT2322149	hsa-miR-631	CLIP-seq
MIRT2322150	hsa-miR-769-5p	CLIP-seq
MIRT2322151	hsa-miR-890	CLIP-seq
MIRT2322152	hsa-miR-940	CLIP-seq
MIRT2394094	hsa-miR-4699-3p	CLIP-seq
MIRT1553248	hsa-miR-1285	CLIP-seq
MIRT1553249	hsa-miR-3187-5p	CLIP-seq
MIRT2458962	hsa-miR-3672	CLIP-seq
MIRT2458963	hsa-miR-4293	CLIP-seq
MIRT2458964	hsa-miR-451b	CLIP-seq
MIRT2458965	hsa-miR-4696	CLIP-seq
MIRT2458966	hsa-miR-596	CLIP-seq
MIRT1553250	hsa-miR-612	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq
MIRT2458963	hsa-miR-4293	CLIP-seq
MIRT2458966	hsa-miR-596	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq
MIRT1553248	hsa-miR-1285	CLIP-seq
MIRT1553249	hsa-miR-3187-5p	CLIP-seq
MIRT2458962	hsa-miR-3672	CLIP-seq
MIRT2458963	hsa-miR-4293	CLIP-seq
MIRT2458964	hsa-miR-451b	CLIP-seq
MIRT2458965	hsa-miR-4696	CLIP-seq
MIRT2458966	hsa-miR-596	CLIP-seq
MIRT1553250	hsa-miR-612	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
USF1	Unknown	8923453

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	7720699, 17145499
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	37117223
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	17145499
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IDA	30795902
GO:0019233	Process	Sensory perception of pain	IMP	17145499, 30795902
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0033268	Component	Node of Ranvier	IDA	30795902
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043679	Component	Axon terminus	IDA	30795902
GO:0048266	Process	Behavioral response to pain	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0098870	Process	Action potential propagation	IDA	7720699, 17145499

Other IDs

• MIM: 603415
• HGNC: 10597
• e!Ensembl: ENSG00000169432

Protein

• UniProt ID: Q15858
• Protein name: Sodium channel protein type 9 subunit alpha (Neuroendocrine sodium channel) (hNE-Na) (Peripheral sodium channel 1) (PN1) (Sodium channel protein type IX subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.7)
• Protein function: Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s
• PDB: 5EK0, 6J8G, 6J8H, 6J8I, 6J8J, 6N4Q, 6N4R, 6NT3, 6NT4, 6VXO, 6W6O, 7K48, 7W9K, 7W9L, 7W9M, 7W9P, 7W9T, 7XM9, 7XMF, 7XMG, 7XVE, 7XVF, 8F0P, 8F0Q, 8F0R, 8F0S, 8G1A, 8I5B, 8I5G, 8I5X, 8I5Y, 8J4F, 8S9B, 8S9C, 8THG, 8THH, 8XMM, 8XMN, 8XMO, 8YHZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	125 → 412	Ion transport protein	Family
  PF11933	Na_trans_cytopl	484 → 694	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
  PF00520	Ion_trans	743 → 978	Ion transport protein	Family
  PF06512	Na_trans_assoc	982 → 1187	Sodium ion transport-associated	Family
  PF00520	Ion_trans	1191 → 1468	Ion transport protein	Family
  PF00520	Ion_trans	1514 → 1771	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed strongly in dorsal root ganglion, with only minor levels elsewhere in the body, smooth muscle cells, MTC cell line and C-cell carcinoma. Also expressed in vagus nerves within the head and neck region (PubMed:31647222). Isofor
• Sequence:

  MAMLPPPGPQSFVHFTKQSLALIEQRIAERKSKEPKEEKKDDDEEAPKPSSDLEAGKQLP
  FIYGDIPPGMVSEPLEDLDPYYADKKTFIVLNKGKTIFRFNATPALYMLSPFSPLRRISI
  KILVHSLFSMLIMCTILTNCIFMTMNNPPDWTKNVEYTFTGIYTFESLVKILARGFCVGE
  FTFLRDPWNWLDFVVIVFAYLTEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQ
  SVKKLSDVMILTVFCLSVFALIGLQLFMGNLKHKCFRNSLENNETLESIMNTLESEEDFR
  KYFYYLEGSKDALLCGFSTDSGQCPEGYTCVKIGRNPDYGYTSFDTFSWAFLALFRLMTQ
  DYWENLYQQTLRAAGKTYMIFFVVVIFLGSFYLINLILAVVAMAYEEQNQANIEEAKQKE
  LEFQQMLDRLKKEQEEAEAIAAAAAEYTSIRRSRIMGLSESSSETSKLSSKSAKERRNRR
  KKKNQKKLSSGEEKGDAEKLSKSESEDSIRRKSFHLGVEGHRRAHEKRLSTPNQSPLSIR
  GSLFSARRSSRTSLFSFKGRGRDIGSETEFADDEHSIFGDNESRRGSLFVPHRPQERRSS
  NISQASRSPPMLPVNGKMHSAVDCNGVVSLVDGRSALMLPNGQLLPEVIIDKATSDDSGT
  TNQIHKKRRCSSYLLSEDMLNDPNLRQRAMSRASILTNTVEELEESRQKCPPWWYRFAHK
  FLIWNCSPYWIKFKKCIYFIVMDPFVDLAITICIVLNTLFMAMEHHPMTEEFKNVLAIGN
  LVFTGIFAAEMVLKLIAMDPYEYFQVGWNIFDSLIVTLSLVELFLADVEGLSVLRSFRLL
  RVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIN
  DDCTLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVYMMVMVIGNLVVL
  NLFLALLLSSFSSDNLTAIEEDPDANNLQIAVTRIKKGINYVKQTLREFILKAFSKKPKI
  SREIRQAEDLNTKKENYISNHTLAEMSKGHNFLKEKDKISGFGSSVDKHLMEDSDGQSFI
  HNPSLTVTVPIAPGESDLENMNAEELSSDSDSEYSKVRLNRSSSSECSTVDNPLPGEGEE
  AEAEPMNSDEPEACFTDGCVWRFSCCQVNIESGKGKIWWNIRKTCYKIVEHSWFESFIVL
  MILLSSGALAFEDIYIERKKTIKIILEYADKIFTYIFILEMLLKWIAYGYKTYFTNAWCW
  LDFLIVDVSLVTLVANTLGYSDLGPIKSLRTLRALRPLRALSRFEGMRVVVNALIGAIPS
  IMNVLLVCLIFWLIFSIMGVNLFAGKFYECINTTDGSRFPASQVPNRSECFALMNVSQNV
  RWKNLKVNFDNVGLGYLSLLQVATFKGWTIIMYAAVDSVNVDKQPKYEYSLYMYIYFVVF
  IIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRP
  GNKIQGCIFDLVTNQAFDISIMVLICLNMVTMMVEKEGQSQHMTEVLYWINVVFIILFTG
  ECVLKLISLRHYYFTVGWNIFDFVVVIISIVGMFLADLIETYFVSPTLFRVIRLARIGRI
  LRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEDGINDMFN
  FETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPKKVHPGSSVEGDCGNPSVGIFYF
  VSYIIISFLVVVNMYIAVILENFSVATEESTEPLSEDDFEMFYEVWEKFDPDATQFIEFS
  KLSDFAAALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDSLR
  SQMEERFMSANPSKVSYEPITTTLKRKQEDVSATVIQRAYRRYRLRQNVKNISSIYIKDG
  DRDDDLLNKKDMAFDNVNENSSPEKTDATSSTTSPPSYDSVTKPDKEKYEQDRTEKEDKG
  KDSKESKK

• Sequence length: 1988

Pathways

KEGG:

Taste transduction

Reactome:

Phase 0 - rapid depolarisation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of pain sensation	Pathogenic	rs80356474	RCV001004018
Acute episodes of neuropathic symptoms	Pathogenic	rs80356474	RCV001004018
Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Likely pathogenic; Pathogenic	rs1553495048, rs1323162486, rs2106527836, rs2106493110, rs201560701, rs794729216, rs121908908, rs1574856736, rs121908909, rs121908916, rs121908917, rs187558439, rs2468067609, rs2468024864, rs2467868979, rs202152511, rs780673293, rs1553473041, rs766212849, rs1553478584, rs200070962, rs769971743, rs202211795, rs1024152367	RCV003448394 RCV001375675 RCV001527654 RCV001528149 RCV002279900 RCV000184036 RCV000006725 RCV000006726 RCV000006727 RCV000006734 RCV000006735 RCV001838994 RCV003229784 RCV003448550 RCV003988766 RCV001535622 RCV003387863 RCV004787893 RCV000680094 RCV000578279 RCV000604892 RCV004788130 RCV004813150 RCV001528173
Generalized epilepsy with febrile seizures plus	Likely pathogenic; Pathogenic	rs202152511, rs1553473041	RCV001535622 RCV005863204
Generalized epilepsy with febrile seizures plus, type 7	Pathogenic; Likely pathogenic	rs1697277352, rs2106383164, rs560913943, rs201560701, rs1553473186, rs1693383784, rs779609081, rs2106346033, rs2106403305, rs2106461311, rs2106469123, rs142219317, rs1297421890, rs2105226927, rs775654130, rs2106487245, rs2106469561, rs2106471095, rs1317855790, rs2106486889, rs2106460925, rs2106395478, rs2106506584, rs2106387246, rs1697657932, rs751421307, rs751948774, rs2106426576, rs1309621904, rs1344477568, rs1697328487, rs121908913, rs1471163637, rs748159444, rs2468039852, rs999645687, rs794729216, rs199828294, rs2467868574, rs267598976, rs2467982175, rs2467986204, rs2468153527, rs2468019480, rs1553488882, rs2467868320, rs747362082, rs2468024409, rs80356475, rs80356474, rs121908914, rs121908916, rs2468034593, rs1698733988, rs187558439, rs975329861, rs1263863618, rs1553496195, rs780686362, rs1448265143, rs1553490323, rs2468039380, rs2468155045, rs1295192882, rs2469006163, rs1553479210, rs2468991339, rs2468041377, rs1057518162, rs1057518900, rs1060502047, rs202152511, rs780673293, rs1553488759, rs1553473041, rs779327684, rs766212849, rs755067851, rs200070962, rs1553479216, rs1411870484, rs1553491169, rs1559027674, rs753900410, rs746241591, rs769971743, rs1574844397, rs1329907808, rs1574859556, rs775868908, rs1574873149, rs1553498017, rs1283839545, rs1574903287, rs1553481071, rs1553486684, rs202211795, rs1553496156, rs1698779595, rs532631248, rs1698638581, rs1697271674, rs1693682030, rs1024152367, rs1320568689, rs1693396597, rs1698219355	RCV001325215 RCV001379376 RCV001376830 RCV001378503 RCV001380256 RCV001381126 RCV001388675 RCV001383082 RCV001391018 RCV001382889 RCV001389492 RCV001390706 RCV001380109 RCV001388488 RCV002012270 RCV001866387 RCV001959572 RCV002004971 RCV001880283 RCV001970422 RCV001939247 RCV002028518 RCV001939451 RCV001947758 RCV001881264 RCV001911206 RCV001989985 RCV002035247 RCV001993168 RCV002003305 RCV001971830 RCV002006442 RCV002015958 RCV002024904 RCV003060468 RCV003068900 RCV003075271 RCV001852381 RCV002721930 RCV002790947 RCV002829878 RCV002856760 RCV002828833 RCV002863038 RCV002858610 RCV002880451 RCV002890072 RCV002947627 RCV002953640 RCV002512849 RCV001067998 RCV000691966 RCV002512850 RCV001383702 RCV003034273 RCV003052154 RCV000697878 RCV003782490 RCV003780983 RCV003789763 RCV003795562 RCV003787427 RCV003787682 RCV003794328 RCV003792415 RCV003807774 RCV003803479 RCV003799149 RCV003802906 RCV003815514 RCV003818083 RCV000647773 RCV000824563 RCV000467475 RCV000700015 RCV001385121 RCV002527439 RCV000550441 RCV000526746 RCV000549923 RCV000527936 RCV000552870 RCV000802734 RCV001208470 RCV000647776 RCV000647787 RCV000691321 RCV000697073 RCV000703027 RCV000694550 RCV000700428 RCV000820787 RCV000808846 RCV000813927 RCV000805408 RCV000806666 RCV000802937 RCV000793027 RCV002549815 RCV001049862 RCV001051216 RCV001046300 RCV001042035 RCV001057044 RCV001067705 RCV002558717 RCV001219445 RCV001209835 RCV001208223 RCV001236101 RCV001241449 RCV001236629
Neuropathy, hereditary sensory and autonomic, type 2A	Pathogenic; Likely pathogenic	rs1697277352, rs2106383164, rs560913943, rs201560701, rs1553473186, rs1693383784, rs779609081, rs2106346033, rs2106403305, rs2106461311, rs2106469123, rs142219317, rs1297421890, rs2105226927, rs775654130, rs2106487245, rs2106469561, rs2106471095, rs1317855790, rs2106486889, rs2106460925, rs2106395478, rs2106506584, rs2106387246, rs1697657932, rs751421307, rs751948774, rs2106426576, rs1309621904, rs1344477568, rs1697328487, rs121908913, rs1471163637, rs748159444, rs2468039852, rs999645687, rs794729216, rs199828294, rs2467868574, rs267598976, rs2467982175, rs2467986204, rs2468153527, rs2468019480, rs1553488882, rs2467868320, rs747362082, rs2468024409, rs80356475, rs80356474, rs121908914, rs121908916, rs2468034593, rs1698733988, rs187558439, rs975329861, rs1263863618, rs1553496195, rs780686362, rs1448265143, rs1553490323, rs2468039380, rs2468155045, rs1295192882, rs2469006163, rs1553479210, rs2468991339, rs2468041377, rs1057518162, rs1057518900, rs1060502047, rs202152511, rs780673293, rs1553488759, rs1553473041, rs779327684, rs766212849, rs755067851, rs200070962, rs1553479216, rs1411870484, rs1553491169, rs1559027674, rs753900410, rs746241591, rs769971743, rs1559030991, rs1574844397, rs1329907808, rs1574859556, rs775868908, rs1574873149, rs1553498017, rs1283839545, rs1574706911, rs1574843584, rs1574903287, rs1553481071, rs1553486684, rs202211795, rs1553496156, rs1698779595, rs532631248, rs1698638581, rs1697271674, rs1693682030, rs1024152367, rs1320568689, rs1693396597, rs1698219355	RCV001325215 RCV001379376 RCV001376830 RCV001378503 RCV001380256 RCV001381126 RCV001388675 RCV001383082 RCV001391018 RCV001382889 RCV001389492 RCV001390706 RCV001380109 RCV001388488 RCV002012270 RCV001866387 RCV001959572 RCV002004971 RCV001880283 RCV001970422 RCV001939247 RCV002028518 RCV001939451 RCV001947758 RCV001881264 RCV001911206 RCV001989985 RCV002035247 RCV001993168 RCV002003305 RCV001971830 RCV002006442 RCV002015958 RCV002024904 RCV003060468 RCV003068900 RCV003075271 RCV001852381 RCV002721930 RCV002790947 RCV002829878 RCV002856760 RCV002828833 RCV002863038 RCV002858610 RCV002880451 RCV002890072 RCV002947627 RCV002953640 RCV002512849 RCV001067998 RCV000691966 RCV002512850 RCV001383702 RCV003034273 RCV003052154 RCV000697878 RCV003782490 RCV003780983 RCV003789763 RCV003795562 RCV003787427 RCV003787682 RCV003794328 RCV003792415 RCV003807774 RCV003803479 RCV003799149 RCV003802906 RCV003815514 RCV003818083 RCV000647773 RCV000824563 RCV000467475 RCV000700015 RCV001385121 RCV002527439 RCV000550441 RCV000526746 RCV000549923 RCV000527936 RCV000552870 RCV000802734 RCV001208470 RCV000647776 RCV000647787 RCV000691321 RCV000697073 RCV000703027 RCV000694550 RCV000700428 RCV000785105 RCV000820787 RCV000808846 RCV000813927 RCV000805408 RCV000806666 RCV000802937 RCV000793027 RCV000986922 RCV000986923 RCV002549815 RCV001049862 RCV001051216 RCV001046300 RCV001042035 RCV001057044 RCV001067705 RCV002558717 RCV001219445 RCV001209835 RCV001208223 RCV001236101 RCV001241449 RCV001236629
Pain insensitivity	Pathogenic	rs1057518900	RCV000414858
Paroxysmal extreme pain disorder	Pathogenic; Likely pathogenic	rs121908911, rs121908912, rs121908913, rs121908914, rs121908915, rs879253994, rs202152511, rs1131691776, rs1553474394, rs1553473041	RCV000006729 RCV000006730 RCV000006731 RCV000006732 RCV000006733 RCV000500437 RCV001535622 RCV000656134 RCV000656132 RCV000656133 RCV005863204
Primary erythromelalgia	Likely pathogenic; Pathogenic	rs1553495048, rs2106426285, rs80356475, rs80356474, rs80356478, rs80356476, rs80356469, rs2468003378, rs80356473, rs202152511, rs1553473041, rs1553491169, rs1698638581	RCV001329018 RCV002250340 RCV000006721 RCV000006722 RCV000006724 RCV000006736 RCV000006737 RCV003148413 RCV000020512 RCV001535622 RCV005863204 RCV001171363 RCV001171362
SCN9A-related disorder	Likely pathogenic; Pathogenic	rs80356471	RCV005250041
SCN9A-related peripheral neuropathies associated with increased pain	Pathogenic	rs80356474	RCV001270748
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1295192882	RCV005934930

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal brainstem MRI signal intensity	Uncertain significance	rs1553486581	RCV000626832
Acute myeloid leukemia	Benign	rs58465962	RCV005889290
Autism spectrum disorder	Benign; Likely benign	rs12478318	RCV003313935
Cervical cancer	Benign	rs58465962	RCV005889292
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity; Uncertain significance	rs606231279, rs200328637	RCV000790201 RCV000790200
Congenital Indifference to Pain	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs77944059, rs35888674, rs750839038, rs145255931, rs143461219, rs370455223, rs202073550, rs200091138, rs564394161, rs140024416, rs886055047, rs886055049, rs774840081, rs763459885, rs144515054, rs148459420, rs199505193, rs140616949, rs3834910, rs767624579, rs886055050, rs200434162, rs200430382	RCV000405665 RCV000274450 RCV000382735 RCV000265329 RCV000388899 RCV000283356 RCV000406524 RCV000364626 RCV000336059 RCV000301763 RCV000331548 RCV000405702 RCV000343213 RCV000285680 RCV000328465 RCV000293873 RCV000313771 RCV000305048 RCV000274983 RCV000329739 RCV000319882 RCV000295569 RCV000268373 RCV000357336
Epilepsy	Conflicting classifications of pathogenicity	rs201503351	RCV000789048
Familial cancer of breast	Uncertain significance	rs375688386	RCV005895884
Febrile seizures, familial	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs35888674, rs750839038, rs145255931, rs370455223, rs202073550, rs200091138, rs564394161, rs886055047, rs886055049, rs774840081, rs763459885, rs767624579, rs886055050	RCV000301438 RCV000384003 RCV000291462 RCV000331992 RCV000309601 RCV000399974 RCV000278700 RCV000361680 RCV000343463 RCV000405664 RCV000381351 RCV000271243 RCV000372277 RCV000299172
Febrile seizures, familial, 1	Conflicting classifications of pathogenicity	rs763256222	RCV000662202
Febrile seizures, familial, 3b	Uncertain significance	rs121908920, rs121908921	RCV000006740 RCV000006741
Gastric cancer	Benign; Likely benign	rs112927502	RCV005892616
Generalized non-motor (absence) seizure	Uncertain significance	rs1553486581	RCV000626832
Global developmental delay	Benign; Likely benign	rs121908919	RCV000415152
Hepatocellular carcinoma	Benign; Likely benign	rs58465962, rs774840081	RCV005889291 RCV005869313
Hereditary ataxia	Conflicting classifications of pathogenicity	rs141268327	RCV005625298
Hypoglycemia	Benign; Likely benign	rs121908919	RCV000415152
Inherited Erythromelalgia	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs13414203, rs13402180, rs141268327, rs75230218, rs149207258, rs182650126, rs77944059, rs6432893, rs4525717, rs35888674, rs149707354, rs180922748, rs188336294, rs111558968, rs267607030, rs41268671, rs199824489, rs202055175, rs750839038, rs200682458, rs182687583, rs115766730, rs199559478, rs145255931, rs16851751, rs143461219, rs187558439, rs370455223, rs201890240, rs191091185, rs186838828, rs201730339, rs73017538, rs149873320, rs77565541, rs202073550, rs200091138, rs200338267, rs200393413, rs143727895, rs564394161, rs140024416, rs886055047, rs111510277, rs886055049, rs201137748, rs886055051, rs141040985, rs774840081, rs200671761, rs201318927, rs763459885, rs141310425, rs199958892, rs1062844, rs11902920, rs144515054, rs16851759, rs202235611, rs200185692, rs772337722, rs201445594, rs1881440, rs191667986, rs200962814, rs185580193, rs200790957, rs77050817, rs199848927, rs148459420, rs199505193, rs140616949, rs3834910, rs140553451, rs150401869, rs201875421, rs767624579, rs886055050, rs200434162, rs200430382, rs201990547, rs746956041, rs188798505, rs755653914, rs41268673	RCV000372805 RCV000399562 RCV000389147 RCV000380369 RCV000391322 RCV000281545 RCV000264835 RCV000345278 RCV000275871 RCV000408317 RCV000331824 RCV000366775 RCV000354077 RCV000269220 RCV000266158 RCV000302710 RCV000285786 RCV000270542 RCV000361155 RCV000287562 RCV000378848 RCV000320220 RCV000389431 RCV000276973 RCV000383338 RCV000316954 RCV000406754 RCV000283499 RCV000366314 RCV000355550 RCV000299163 RCV000368490 RCV000341523 RCV000337355 RCV000348882 RCV000277964 RCV000309914 RCV000283097 RCV000317706 RCV000332342 RCV000368823 RCV000261231 RCV000276422 RCV000279059 RCV000335227 RCV000404787 RCV000312811 RCV000287096 RCV000298492 RCV000324494 RCV000376217 RCV000326582 RCV000362135 RCV000310155 RCV000374165 RCV000300570 RCV000333168 RCV000348745 RCV000306861 RCV000340680 RCV000333422 RCV000385347 RCV000389564 RCV000393243 RCV000320914 RCV000277176 RCV000312641 RCV000350580 RCV000362498 RCV000320323 RCV000300920 RCV000310372 RCV000357016 RCV000274625 RCV000271371 RCV000354679 RCV000332706 RCV000369517 RCV000344529 RCV000323457 RCV000266043 RCV000321651 RCV000385527 RCV000299739 RCV000318402 RCV000314793
Lung cancer	Uncertain significance; Likely benign	rs767975150, rs759259699	RCV005924350 RCV005926803
Malignant tumor of esophagus	Benign; Likely benign	rs35888674	RCV005867999
Melanoma	Benign; Uncertain significance	rs58465962, rs368396027	RCV005889295 RCV005913574
Microcephaly	Uncertain significance	rs1695403114	RCV001252799
Neuropathy, hereditary sensory and autonomic, type IId	Conflicting classifications of pathogenicity	rs606231279	RCV000144933
Nonpapillary renal cell carcinoma	Likely benign; Benign	rs201599943, rs35888674	RCV005925896 RCV005868000
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs58465962, rs112927502	RCV005889293 RCV005892617
Propofol response	Benign	rs16851751	RCV005251116
Sarcoma	Benign; Likely benign	rs112927502	RCV005892615
SCN9A-related neuropathic pain syndromes	Uncertain significance	rs201338643	RCV005051787
See cases	Conflicting classifications of pathogenicity	rs759003928	RCV002252165
Seizure	Conflicting classifications of pathogenicity; Benign; Likely benign	rs187453572, rs121908919	RCV000781948 RCV000415152
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity; Uncertain significance	rs199692186, rs200817435, rs180922748, rs200965749, rs201338643	RCV000655986 RCV000655985 RCV000655984 RCV000655987 RCV000655988
Severe myoclonic epilepsy in infancy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1698156445, rs141268327, rs35888674, rs750839038, rs145255931, rs370455223, rs202073550, rs200091138, rs564394161, rs886055047, rs886055049, rs774840081, rs763459885, rs767624579, rs886055050, rs200415928, rs1558945594, rs1234934110	RCV001332205 RCV000328939 RCV000261491 RCV000273163 RCV000383041 RCV000291307 RCV000344487 RCV000301570 RCV000377497 RCV000346098 RCV000284797 RCV000303556 RCV000400182 RCV000377051 RCV000368712 RCV000391544 RCV005252109 RCV005252111 RCV001253427
Small fiber neuropathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs58465962, rs6747673, rs58022607, rs6432901, rs199692186, rs74401238, rs77144869, rs76550960, rs9646771, rs74449889, rs73969684, rs182650126, rs77944059, rs35888674, rs201531206, rs187453572, rs144941725, rs1553491000, rs79805025, rs112927502, rs149346064, rs750839038, rs139483482, rs199595958, rs145255931, rs58249489, rs200750861, rs201415802, rs143461219, rs200465050, rs370455223, rs200014315, rs886055056, rs200240989, rs141521157, rs142172527, rs75345520, rs202073550, rs114843828, rs16851753, rs200091138, rs16851754, rs201424899, rs564394161, rs140024416, rs886055047, rs886055049, rs201979079, rs886055053, rs886055054, rs774840081, rs201890077, rs145316463, rs200876333, rs199748300, rs199986805, rs200099565, rs763459885, rs13396526, rs200353065, rs181229506, rs144515054, rs115464654, rs16851755, rs886055048, rs886055052, rs886055055, rs200826539, rs148362057, rs201905758, rs886055057, rs200963393, rs201184093, rs17804037, rs548072061, rs148459420, rs73017542, rs199505193, rs140616949, rs538508619, rs3834910, rs200625860, rs767624579, rs886055050, rs202047865, rs201984007, rs188145203, rs760470229, rs200434162, rs187526567, rs200430382, rs777699798, rs201990547, rs755653914, rs747265095, rs200398202, rs4369876, rs3750904	RCV000400533 RCV000318943 RCV000314578 RCV000363455 RCV000391228 RCV000268136 RCV000278050 RCV000393830 RCV000297056 RCV000397088 RCV000144930 RCV000144932 RCV000359605 RCV000353924 RCV000349722 RCV000277449 RCV000286093 RCV000362906 RCV005863785 RCV000271832 RCV000296393 RCV000303154 RCV000379641 RCV000307555 RCV000395211 RCV000349801 RCV000393187 RCV000346169 RCV000264600 RCV000289285 RCV000320298 RCV000287148 RCV000384201 RCV000363869 RCV000312180 RCV000317620 RCV000341064 RCV000267308 RCV000361186 RCV000289218 RCV000380829 RCV000378814 RCV000377310 RCV000281473 RCV000358954 RCV000385940 RCV000373230 RCV000346695 RCV000319396 RCV000403203 RCV000370748 RCV000346674 RCV000295204 RCV000302754 RCV000372990 RCV000293514 RCV000306043 RCV000267599 RCV000269917 RCV000319290 RCV000306019 RCV000382306 RCV000403917 RCV000287117 RCV000367053 RCV000351399 RCV000391769 RCV000312807 RCV000374375 RCV000276939 RCV000355253 RCV000296489 RCV000340690 RCV000357374 RCV000336414 RCV000402971 RCV000268985 RCV000351500 RCV000358620 RCV000305824 RCV000365812 RCV000364317 RCV000304876 RCV000311295 RCV000353982 RCV000267598 RCV000293562 RCV000330258 RCV000312086 RCV000308433 RCV000372662 RCV000318934 RCV000390435 RCV000369264 RCV000353484 RCV000287405 RCV000023303 RCV000375717 RCV000406081
Thyroid cancer, nonmedullary, 1	Benign	rs58465962	RCV005889294

Associations from Text Mining
Disease Name	Relationship Type	References
Acid Phosphatase Deficiency	Associate	39276275
Ageusia	Associate	29978519
Anosmia	Associate	29978519, 32420800
Anxiety	Associate	38064009
Asthma	Associate	36395102
Autism Spectrum Disorder	Associate	27956748, 34947986
Autistic Disorder	Associate	27956748
Bipolar Disorder	Associate	34947986
Bradycardia	Associate	35840956
Brain Diseases	Associate	31372899
Breast Neoplasms	Associate	32295642, 37052249
Burning Mouth Syndrome	Associate	20529324
Carcinoma Non Small Cell Lung	Associate	31329011
Channelopathies	Associate	17167479, 20692858, 34799533
Chronic Pain	Associate	17145494, 25285947, 27598514, 28658526, 30720580, 33361158
Cognition Disorders	Associate	34982449
Cognitive Dysfunction	Associate	28530638
Corneal dystrophy and perceptive deafness	Associate	28103821
Dental Pulp Diseases	Associate	20529324
Developmental Disabilities	Associate	28381558
Diabetic Neuropathies	Associate	29176367, 37175987
Drug Hypersensitivity	Associate	33487118
Ectodermal Dysplasia	Associate	22136189
Edema	Associate	28381558
Endometriosis	Associate	25029427
Epilepsies Myoclonic	Associate	23895530, 30558019, 30642272, 31372899, 34982449
Epilepsy	Associate	28074849, 32062735, 34982449, 40565516
Epileptic Encephalopathy Early Infantile 3	Associate	35886038
Epileptic Syndromes	Associate	31372899
Erythema	Associate	28381558
Erythromelalgia	Associate	14985375, 15955112, 17008310, 17145499, 17239250, 18171466, 18518989, 18550534, 19557861, 20212137, 20429905, 20529343, 21115638, 21289137, 22136189, 22348792, 23129781, 23292638, 23536180, 24311784, 24866741, 25575597, 25957174, 25995458, 27174182, 27598514, 28134657, 28235406, 28381558, 28658526, 28751508, 30459225, 30720580, 31439884, 32663327, 33361158, 33487118, 35088838, 36114697, 36996107, 37531097, 37721535, 37903281
Eye Pain	Associate	36722722
Facial Pain	Associate	22136189
Fibromyalgia	Associate	22348792
Flushing	Associate	25903274
Frasier Syndrome	Associate	33895391
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	30642272, 31394368, 32062735, 34982449
Genetic Diseases Inborn	Associate	20529324, 25957174
Glioblastoma	Associate	33237934
Harlequin syndrome	Associate	32404070
Headache	Associate	25903274
Heart Diseases	Associate	34799533, 38064009
Heart Failure	Associate	29659026
Hereditary Sensory and Autonomic Neuropathies	Associate	34090020, 37248554
Hyperalgesia	Associate	22761785
Hypophosphatasia	Associate	39276275
Hypotension Orthostatic	Associate	33487118
Hypothermia	Associate	28751508
Infections	Associate	31694955
Intellectual Disability	Associate	33278787
KBG syndrome	Associate	30642272
Language Disorders	Associate	28440294
Malar hypoplasia	Associate	28381558
Mandibular Nerve Injuries	Associate	36222860
Migraine Disorders	Associate	18676988
Migraine with Aura	Associate	18676988
Multiple Pterygium Syndrome Autosomal Dominant	Associate	17008310, 32404070
Myalgia	Associate	33487118
Neoplasm Metastasis	Associate	37052249
Neoplasms	Associate	37052249
Neoplastic Syndromes Hereditary	Associate	17430993, 18518989
Nerve Degeneration	Associate	20529343, 32011655, 35088838
Nervous System Diseases	Associate	28103821, 37921732
Neuralgia	Associate	15955112, 25585270, 28658526, 29176367, 31041876, 31439884, 33087732, 34947986, 36114697, 37921732
Neuralgia Postherpetic	Associate	28266963
Neuroblastoma	Associate	31329011
Neuropathy Painful	Associate	28530638, 36730021
Olfaction Disorders	Associate	30037327, 32420800
Osteoarthritis	Associate	20212137
Pain	Associate	17145494, 17167479, 17239250, 20212137, 20429905, 20529324, 20529343, 22136189, 22348792, 23129781, 25585270, 25957174, 25995458, 26283785, 28235406, 28266963, 28381558, 28530638, 28658526, 29176367, 29659026, 30459225, 30554136, 30720580, 31439884, 32011655, 32295642, 32663327, 33487118, 34799533, 35088838, 35413129, 36114697, 36395102, 36722722, 36730021, 36996107, 37366590, 37531097, 37903281, 37921732
Pain Insensitivity Congenital	Associate	20529343, 20628234, 20692858, 23006801, 23129781, 23292638, 25285947, 25995458, 26283785, 28530638, 29978519, 30037327, 30795902, 32420800, 34090020, 34799533, 34947986, 36111846, 37248554
Paine syndrome	Associate	17145494, 17430993, 18599537, 20429905, 20529343, 21289137, 22136189, 23536180, 25575597, 27174182, 28235406, 32663327, 36996107, 37531097, 37903281
Parkinson Disease	Associate	31823283
Paroxysmal Extreme Pain Disorder	Associate	17145494, 17145499, 18518989, 18599537, 20212137, 20429905, 20529343, 21115638, 21788423, 22136189, 22348792, 23129781, 23292638, 24311784, 25285947, 25903274, 25957174, 25995458, 27174182, 28235406, 32404070, 32663327, 35840956, 36114697, 37531097
Peripheral Nervous System Diseases	Associate	25585270, 28103821, 29176367, 30392441, 32295642
Primary Dysautonomias	Associate	38064009
Prostatic Neoplasms	Associate	18036246
Pulpitis	Associate	20529324
Rhabdomyosarcoma	Associate	35413129
Schizophrenia	Associate	34947986
Seizures	Associate	31372899, 33895391, 34947986
Seizures Febrile	Associate	23129781, 31372899, 31394368, 33216760, 37531097
Sinus Arrest Cardiac	Associate	35840956
Small Fiber Neuropathy	Associate	22136189, 23129781, 25585270, 27363506, 28235406, 30554136, 32011655, 36114697, 37175987, 37921732
Somatoform Disorders	Associate	20212137, 20429905, 20529343, 21115638, 23006801, 24866741, 28235406, 28381558, 28530638, 30392441, 35088838, 36114697, 36722722
Status Epilepticus	Associate	33278787
Syndrome	Associate	30642272, 33087732