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

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 pain sensation	Pathogenic	rs80356474	RCV001004018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute episodes of neuropathic symptoms	Pathogenic	rs80356474	RCV001004018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized epilepsy with febrile seizures plus	Likely pathogenic; Pathogenic	rs202152511, rs1553473041	RCV001535622 RCV005863204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pain insensitivity	Pathogenic	rs1057518900	RCV000414858	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SCN9A-related disorder	Likely pathogenic; Pathogenic	rs80356471	RCV005250041	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCN9A-related peripheral neuropathies associated with increased pain	Pathogenic	rs80356474	RCV001270748	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1295192882	RCV005934930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal brainstem MRI signal intensity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PAIN	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Indifference to Pain	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL INSENSITIVITY TO PAIN, ANOSMIA, NEUROPATHIC ARTHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL INSENSITIVITY TO PAIN-ANOSMIA-NEUROPATHIC ARTHROPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PAIN INSENSITIVITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRAVET SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHERMALGIA, PRIMARY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROMELALGIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizures, familial	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizures, familial, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizures, familial, 3b	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized non-motor (absence) seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2	—	ClinVar, HPO, Orphanet ClinVar, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Inherited Erythromelalgia	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy, hereditary sensory and autonomic, type IId	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ERYTHERMALGIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Propofol response	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRURITUS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN9A-related neuropathic pain syndromes	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myoclonic epilepsy in infancy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small fiber neuropathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	23152140		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anosmia	Anosmia	Pubtator	29978519, 32420800	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	38064009	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36395102	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27956748, 34947986	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27956748, 30519864		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27956748	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	23152140, 23893323		★☆☆☆☆ Found in Text Mining only
Benign Infantile Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	34947986	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18439623		★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	35840956	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31372899	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32295642, 37052249	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	23102778		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	17145494, 25285947, 27598514, 28658526, 30720580, 33361158	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	BEFREE	23893323		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34982449	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	28530638	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Pain Insensitivity	Congenital Pain Insensitivity	GENOMICS_ENGLAND_DG	14985375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Pain Insensitivity	Congenital Pain Insensitivity	LHGDN	17470132, 18070140		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Pain Insensitivity	Congenital Pain Insensitivity	BEFREE	20529343, 20628234, 20635406, 20692858, 21455071, 22035805, 23006801, 23129781, 23364568, 24188911, 24813307, 25439579, 26634308, 27747863, 29166836, 29978519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Pain Insensitivity	Congenital Pain Insensitivity	ORPHANET_DG	20529343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy and perceptive deafness	Corneal dystrophy	Pubtator	28103821	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30246810		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20212137		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28381558	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	29176367, 37175987	Associate	★☆☆☆☆ Found in Text Mining only
Dravet syndrome	Dravet Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysautonomia	Dysautonomia	BEFREE	23152140		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysosteosclerosis	Dysosteosclerosis	GENOMICS_ENGLAND_DG	14985375		★☆☆☆☆ Found in Text Mining only
Early Childhood Epilepsy, Myoclonic	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Early Infantile Epileptic Encephalopathy 6	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23895530		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	22136189	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	28381558	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25029427	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	23895530, 30558019, 30642272, 31372899, 34982449	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINGEN_DG	15314237, 19763161, 23895530, 27504264, 28704742, 29500686		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	BEFREE	19763161, 20351042, 23895530, 29500686, 30834459, 31394368		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	28074849, 32062735, 34982449, 40565516	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	BEFREE	17049761		★☆☆☆☆ Found in Text Mining only
Epilepsy, Myoclonic, Infantile	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	BEFREE	30834459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31372899		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35886038	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	17049761, 19763161, 23895530, 25524840, 30642272, 30834459, 31372899		★☆☆☆☆ Found in Text Mining only
Erythromelalgia	Erythromelalgia	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythromelalgia	Erythromelalgia	BEFREE	15955112, 15958509, 17239250, 19549232, 20033988, 22035805, 23129781, 23893323, 25250524, 26920677, 28235406, 30416015, 31439884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythromelalgia	Erythromelalgia	LHGDN	15955112, 17135418, 17410110, 17430993, 18171466, 18347287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythromelalgia	Erythromelalgia	CTD_human_DG	17145499, 19549232, 19557861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythromelalgia	Erythromelalgia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eye Pain	Eye pain	Pubtator	36722722	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	19763161, 23129781, 23895530, 30834459, 31372899		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
FEBRILE SEIZURES, FAMILIAL, 3B	FEBRILE SEIZURES	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Focal Clonic Seizures	Focal Clonic Seizures	BEFREE	29500686		★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	33895391	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	30642272, 31394368, 32062735, 34982449	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus, 7	Generalized Epilepsy with Febrile Seizures Plus	GENOMICS_ENGLAND_DG	14985375, 23895530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Epilepsy With Febrile Seizures Plus, 7	Generalized Epilepsy with Febrile Seizures Plus	CLINVAR_DG	17145499, 17470132, 18599537, 19304393, 19557861, 21115638, 23149731, 25253744, 374104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Epilepsy With Febrile Seizures Plus, 7	Generalized Epilepsy with Febrile Seizures Plus	UNIPROT_DG	19763161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Epilepsy With Febrile Seizures Plus, 7	Generalized Epilepsy with Febrile Seizures Plus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized epilepsy with febrile seizures-plus	Epilepsy With Febrile Seizures Plus	Orphanet			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33237934	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Headache	Headache	Pubtator	25903274	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34799533, 38064009	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	29659026	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	ORPHANET_DG	23596073		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	18370847, 23596073		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	34090020, 37248554	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary sensory and autonomic neuropathy type 2	Hereditary Sensory And Autonomic Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 2	Hereditary sensory and autonomic neuropathy	ORPHANET_DG	23596073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory Autonomic Neuropathy, Type 5	Hereditary sensory and autonomic neuropathy	ORPHANET_DG	20529343		★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	22761785	Associate	★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39276275	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension Orthostatic	Orthostatic hypotension	Pubtator	33487118	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	17049761, 19763161, 23895530, 25524840, 30642272, 30834459, 31372899		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	18755274, 19763161, 21463275, 23895530		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33278787	Associate	★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	23102778		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	28440294	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28782773		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30894674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27529686		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28103821		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	18676988	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	18676988	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30246810		★☆☆☆☆ Found in Text Mining only
Myoclonic Absence Epilepsy	Myotonia Levior	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Encephalopathy	Myoclonic Encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28103821, 37921732	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31329011	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	28103821		★☆☆☆☆ Found in Text Mining only
Neuropathy, Hereditary Sensory And Autonomic, Type IIA	Neuropathy	CLINVAR_DG	17145499, 17470132, 18599537, 19304393, 19557861, 21115638, 23149731, 25253744, 374104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy, Hereditary Sensory And Autonomic, Type IIA	Neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obtundation status	Obtundation status	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20212137	Associate	★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	20529343, 20628234, 20692858, 23006801, 23129781, 23292638, 25285947, 25995458, 26283785, 28530638, 29978519, 30037327, 30795902, 32420800, 34090020, 34799533, 34947986, 36111846, 37248554	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28782773		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22473870		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31823283	Associate	★☆☆☆☆ Found in Text Mining only
Paronychia Inflammation	Paronychia Inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	GENOMICS_ENGLAND_DG	14985375, 28665811		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	BEFREE	17049761, 17145499, 17679678, 18803825, 19185186, 20074229, 20635406, 21094958, 22348792, 22845492, 23129781, 24817410, 25250524, 25285947, 25903274, 29166836		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal Extreme Pain Disorder	Paroxysmal extreme pain disorder	Pubtator	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	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	UNIPROT_DG	17145499, 18945915, 25285947		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	ORPHANET_DG	17145499		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25585270, 28103821, 29176367, 30392441, 32295642	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28103821		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28103821		★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	38064009	Associate	★☆☆☆☆ Found in Text Mining only
Primary Erythermalgia	Erythermalgia	BEFREE	14985375, 15955112, 16029345, 17145499, 17985268, 18347287, 20074229, 20635406, 20959280, 22033523, 23152140, 23383113, 28990532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Erythermalgia	Erythermalgia	UNIPROT_DG	14985375, 15385606, 15955112, 15958509, 16216943, 16392115, 16702558, 16988069, 18945915, 19369487, 24311784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Erythermalgia	Erythermalgia	GENOMICS_ENGLAND_DG	14985375, 28665811		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Erythermalgia	Erythermalgia	ORPHANET_DG	15958509		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Erythermalgia	Erythermalgia	CTD_human_DG	17145499, 19549232, 19557861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Erythermalgia	Erythermalgia	CLINVAR_DG	21698661, 22035805, 26633545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary erythromelalgia	Erythromelalgia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	30894674		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16088330, 18036246		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18036246	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	35413129	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34947986	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure, Febrile, Simple	Seizure	BEFREE	29500686		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31372899, 33895391, 34947986	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	23129781, 31372899, 31394368, 33216760, 37531097	Associate	★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	GENOMICS_ENGLAND_DG	14985375		★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	21698661, 22803682, 22826602, 23129781, 25250524, 25585270, 27363506, 28235406, 30316835, 30649227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Fiber Neuropathy	Small Fiber Neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sodium channelopathy-related small fiber neuropathy	Sodium Channelopathy-Related Small Fiber Neuropathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Somatoform Disorder	Somatoform Disorder	LHGDN	18803825		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	33278787	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27529686		★☆☆☆☆ Found in Text Mining only
Symptomatic Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11876527		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	29500686		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only