SCN11A (sodium voltage-gated channel alpha subunit 11)

Gene

• Entrez ID: 11280
• Gene name: Sodium voltage-gated channel alpha subunit 11
• Gene symbol: SCN11A
• Synonyms (NCBI Gene): FEPS3, HSAN7, NAV1.9, NaN, PN5, SCN12A, SNS-2
• Chromosome: 3
• Chromosome location: 3p22.2
• Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138607170	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs141686175	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs148425367	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs151155193	C>A,G,T	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs483352920	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs483352921	G>C,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs606231280	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant, genic upstream transcript variant
rs1064795711	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1085307142	A>G	Pathogenic	Intron variant, genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1553633131	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048261	hsa-miR-196a-5p	CLASH	23622248
MIRT047837	hsa-miR-30c-5p	CLASH	23622248
MIRT1329693	hsa-miR-106a	CLIP-seq
MIRT1329694	hsa-miR-106b	CLIP-seq
MIRT1329695	hsa-miR-1193	CLIP-seq
MIRT1329696	hsa-miR-17	CLIP-seq
MIRT1329697	hsa-miR-192	CLIP-seq
MIRT1329698	hsa-miR-20a	CLIP-seq
MIRT1329699	hsa-miR-20b	CLIP-seq
MIRT1329700	hsa-miR-215	CLIP-seq
MIRT1329701	hsa-miR-2392	CLIP-seq
MIRT1329702	hsa-miR-302a	CLIP-seq
MIRT1329703	hsa-miR-302b	CLIP-seq
MIRT1329704	hsa-miR-302c	CLIP-seq
MIRT1329705	hsa-miR-302d	CLIP-seq
MIRT1329706	hsa-miR-302e	CLIP-seq
MIRT1329707	hsa-miR-3187-3p	CLIP-seq
MIRT1329708	hsa-miR-371-5p	CLIP-seq
MIRT1329709	hsa-miR-371b-5p	CLIP-seq
MIRT1329710	hsa-miR-372	CLIP-seq
MIRT1329711	hsa-miR-373	CLIP-seq
MIRT1329712	hsa-miR-3973	CLIP-seq
MIRT1329713	hsa-miR-4312	CLIP-seq
MIRT1329714	hsa-miR-4435	CLIP-seq
MIRT1329715	hsa-miR-4438	CLIP-seq
MIRT1329716	hsa-miR-4701-5p	CLIP-seq
MIRT1329717	hsa-miR-4731-5p	CLIP-seq
MIRT1329718	hsa-miR-4757-5p	CLIP-seq
MIRT1329719	hsa-miR-4781-3p	CLIP-seq
MIRT1329720	hsa-miR-5095	CLIP-seq
MIRT1329721	hsa-miR-512-3p	CLIP-seq
MIRT1329722	hsa-miR-519d	CLIP-seq
MIRT1329723	hsa-miR-520a-3p	CLIP-seq
MIRT1329724	hsa-miR-520b	CLIP-seq
MIRT1329725	hsa-miR-520c-3p	CLIP-seq
MIRT1329726	hsa-miR-520d-3p	CLIP-seq
MIRT1329727	hsa-miR-520e	CLIP-seq
MIRT1329728	hsa-miR-520g	CLIP-seq
MIRT1329729	hsa-miR-520h	CLIP-seq
MIRT1329730	hsa-miR-548s	CLIP-seq
MIRT1329731	hsa-miR-588	CLIP-seq
MIRT1329732	hsa-miR-640	CLIP-seq
MIRT1329733	hsa-miR-93	CLIP-seq
MIRT2097736	hsa-miR-122	CLIP-seq
MIRT2097737	hsa-miR-1226	CLIP-seq
MIRT2097738	hsa-miR-150	CLIP-seq
MIRT2097739	hsa-miR-1976	CLIP-seq
MIRT2097740	hsa-miR-3135b	CLIP-seq
MIRT2097741	hsa-miR-3652	CLIP-seq
MIRT2097742	hsa-miR-3664-5p	CLIP-seq
MIRT2097743	hsa-miR-4279	CLIP-seq
MIRT2097744	hsa-miR-4430	CLIP-seq
MIRT2097745	hsa-miR-4503	CLIP-seq
MIRT2097746	hsa-miR-4639-3p	CLIP-seq
MIRT2097747	hsa-miR-4722-3p	CLIP-seq
MIRT2097748	hsa-miR-4733-3p	CLIP-seq
MIRT2097749	hsa-miR-564	CLIP-seq
MIRT1329693	hsa-miR-106a	CLIP-seq
MIRT1329694	hsa-miR-106b	CLIP-seq
MIRT2097736	hsa-miR-122	CLIP-seq
MIRT2097737	hsa-miR-1226	CLIP-seq
MIRT2097738	hsa-miR-150	CLIP-seq
MIRT1329696	hsa-miR-17	CLIP-seq
MIRT2322018	hsa-miR-1915	CLIP-seq
MIRT2097739	hsa-miR-1976	CLIP-seq
MIRT1329698	hsa-miR-20a	CLIP-seq
MIRT1329699	hsa-miR-20b	CLIP-seq
MIRT2322019	hsa-miR-24	CLIP-seq
MIRT1329702	hsa-miR-302a	CLIP-seq
MIRT1329703	hsa-miR-302b	CLIP-seq
MIRT1329704	hsa-miR-302c	CLIP-seq
MIRT1329705	hsa-miR-302d	CLIP-seq
MIRT1329706	hsa-miR-302e	CLIP-seq
MIRT2097740	hsa-miR-3135b	CLIP-seq
MIRT2322020	hsa-miR-3199	CLIP-seq
MIRT2097741	hsa-miR-3652	CLIP-seq
MIRT2097742	hsa-miR-3664-5p	CLIP-seq
MIRT1329708	hsa-miR-371-5p	CLIP-seq
MIRT1329709	hsa-miR-371b-5p	CLIP-seq
MIRT1329710	hsa-miR-372	CLIP-seq
MIRT1329711	hsa-miR-373	CLIP-seq
MIRT1329712	hsa-miR-3973	CLIP-seq
MIRT2097743	hsa-miR-4279	CLIP-seq
MIRT2322021	hsa-miR-4284	CLIP-seq
MIRT1329713	hsa-miR-4312	CLIP-seq
MIRT2097744	hsa-miR-4430	CLIP-seq
MIRT1329715	hsa-miR-4438	CLIP-seq
MIRT2097745	hsa-miR-4503	CLIP-seq
MIRT2097746	hsa-miR-4639-3p	CLIP-seq
MIRT2322022	hsa-miR-4713-5p	CLIP-seq
MIRT2097747	hsa-miR-4722-3p	CLIP-seq
MIRT2322023	hsa-miR-4726-3p	CLIP-seq
MIRT1329717	hsa-miR-4731-5p	CLIP-seq
MIRT2097748	hsa-miR-4733-3p	CLIP-seq
MIRT1329718	hsa-miR-4757-5p	CLIP-seq
MIRT2322024	hsa-miR-4772-3p	CLIP-seq
MIRT2322025	hsa-miR-4797-5p	CLIP-seq
MIRT1329720	hsa-miR-5095	CLIP-seq
MIRT1329721	hsa-miR-512-3p	CLIP-seq
MIRT1329722	hsa-miR-519d	CLIP-seq
MIRT1329723	hsa-miR-520a-3p	CLIP-seq
MIRT1329724	hsa-miR-520b	CLIP-seq
MIRT1329725	hsa-miR-520c-3p	CLIP-seq
MIRT1329726	hsa-miR-520d-3p	CLIP-seq
MIRT1329727	hsa-miR-520e	CLIP-seq
MIRT1329728	hsa-miR-520g	CLIP-seq
MIRT1329729	hsa-miR-520h	CLIP-seq
MIRT2322026	hsa-miR-532-3p	CLIP-seq
MIRT2322027	hsa-miR-562	CLIP-seq
MIRT2097749	hsa-miR-564	CLIP-seq
MIRT1329733	hsa-miR-93	CLIP-seq
MIRT1329718	hsa-miR-4757-5p	CLIP-seq
MIRT2458918	hsa-miR-3149	CLIP-seq
MIRT2322020	hsa-miR-3199	CLIP-seq
MIRT2458919	hsa-miR-411	CLIP-seq
MIRT1329715	hsa-miR-4438	CLIP-seq
MIRT2458920	hsa-miR-4735-5p	CLIP-seq
MIRT2458921	hsa-miR-4775	CLIP-seq
MIRT1329720	hsa-miR-5095	CLIP-seq
MIRT2458922	hsa-miR-590-3p	CLIP-seq
MIRT2097736	hsa-miR-122	CLIP-seq
MIRT2097737	hsa-miR-1226	CLIP-seq
MIRT2322019	hsa-miR-24	CLIP-seq
MIRT2097740	hsa-miR-3135b	CLIP-seq
MIRT2458918	hsa-miR-3149	CLIP-seq
MIRT2322020	hsa-miR-3199	CLIP-seq
MIRT2097741	hsa-miR-3652	CLIP-seq
MIRT2458919	hsa-miR-411	CLIP-seq
MIRT2322021	hsa-miR-4284	CLIP-seq
MIRT2097744	hsa-miR-4430	CLIP-seq
MIRT1329715	hsa-miR-4438	CLIP-seq
MIRT2097748	hsa-miR-4733-3p	CLIP-seq
MIRT2458920	hsa-miR-4735-5p	CLIP-seq
MIRT2322024	hsa-miR-4772-3p	CLIP-seq
MIRT2458921	hsa-miR-4775	CLIP-seq
MIRT1329720	hsa-miR-5095	CLIP-seq
MIRT2097749	hsa-miR-564	CLIP-seq
MIRT2458922	hsa-miR-590-3p	CLIP-seq
MIRT2097736	hsa-miR-122	CLIP-seq
MIRT2097737	hsa-miR-1226	CLIP-seq
MIRT2097738	hsa-miR-150	CLIP-seq
MIRT2322018	hsa-miR-1915	CLIP-seq
MIRT2322019	hsa-miR-24	CLIP-seq
MIRT2097740	hsa-miR-3135b	CLIP-seq
MIRT2458918	hsa-miR-3149	CLIP-seq
MIRT2322020	hsa-miR-3199	CLIP-seq
MIRT2097741	hsa-miR-3652	CLIP-seq
MIRT2458919	hsa-miR-411	CLIP-seq
MIRT2322021	hsa-miR-4284	CLIP-seq
MIRT2097744	hsa-miR-4430	CLIP-seq
MIRT1329715	hsa-miR-4438	CLIP-seq
MIRT2097745	hsa-miR-4503	CLIP-seq
MIRT2322022	hsa-miR-4713-5p	CLIP-seq
MIRT2322023	hsa-miR-4726-3p	CLIP-seq
MIRT2097748	hsa-miR-4733-3p	CLIP-seq
MIRT2458920	hsa-miR-4735-5p	CLIP-seq
MIRT2322024	hsa-miR-4772-3p	CLIP-seq
MIRT2458921	hsa-miR-4775	CLIP-seq
MIRT1329720	hsa-miR-5095	CLIP-seq
MIRT2322026	hsa-miR-532-3p	CLIP-seq
MIRT2097749	hsa-miR-564	CLIP-seq
MIRT2458922	hsa-miR-590-3p	CLIP-seq

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:0001966	Process	Thigmotaxis	IEA
GO:0002526	Process	Acute inflammatory response	IEA
GO:0002544	Process	Chronic inflammatory response	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	12384689
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	24036948, 24776970
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	12384689
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	24036948, 24776970
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0007635	Process	Chemosensory behavior	IEA
GO:0009408	Process	Response to heat	IEA
GO:0009409	Process	Response to cold	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009644	Process	Response to high light intensity	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019233	Process	Sensory perception of pain	IMP	24036948
GO:0019233	Process	Sensory perception of pain	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034695	Process	Response to prostaglandin E	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0040040	Process	Thermosensory behavior	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043303	Process	Mast cell degranulation	IEA
GO:0044295	Component	Axonal growth cone	IEA
GO:0044297	Component	Cell body	IEA
GO:0044299	Component	C-fiber	IEA
GO:0048265	Process	Response to pain	IEA
GO:0048266	Process	Behavioral response to pain	IEA
GO:0048870	Process	Cell motility	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060004	Process	Reflex	IEA
GO:0060073	Process	Micturition	IEA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060840	Process	Artery development	IEA
GO:0061367	Process	Behavioral response to acetic acid induced pain	IEA
GO:0061368	Process	Behavioral response to formalin induced pain	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070417	Process	Cellular response to cold	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071731	Process	Response to nitric oxide	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086010	Process	Membrane depolarization during action potential	IDA	12384689
GO:0086010	Process	Membrane depolarization during action potential	IEA
GO:0086010	Process	Membrane depolarization during action potential	IMP	24036948, 24776970
GO:0099610	Process	Action potential initiation	IEA
GO:0141156	Process	CAMP/PKA signal transduction	IEA
GO:0160025	Process	Sensory perception of itch	IEA
GO:1990408	Process	Calcitonin gene-related peptide receptor signaling pathway	IEA
GO:1990770	Process	Small intestine smooth muscle contraction	IEA

Other IDs

• MIM: 604385
• HGNC: 10583
• e!Ensembl: ENSG00000168356

Protein

• UniProt ID: Q9UI33
• Protein name: Sodium channel protein type 11 subunit alpha (Peripheral nerve sodium channel 5) (PN5) (Sensory neuron sodium channel 2) (Sodium channel protein type XI subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.9) (hNaN)
• Protein function: Sodium channel mediating the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel throug
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	128 → 411	Ion transport protein	Family
  PF00520	Ion_trans	576 → 822	Ion transport protein	Family
  PF06512	Na_trans_assoc	826 → 1051	Sodium ion transport-associated	Family
  PF00520	Ion_trans	1055 → 1319	Ion transport protein	Family
  PF00520	Ion_trans	1365 → 1615	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta. {ECO:0000269|PubMed:10623608, ECO:0000269|PubMed:15302875}.
• Sequence:

  MDDRCYPVIFPDERNFRPFTSDSLAAIEKRIAIQKEKKKSKDQTGEVPQPRPQLDLKASR
  KLPKLYGDIPRELIGKPLEDLDPFYRNHKTFMVLNRKRTIYRFSAKHALFIFGPFNSIRS
  LAIRVSVHSLFSMFIIGTVIINCVFMATGPAKNSNSNNTDIAECVFTGIYIFEALIKILA
  RGFILDEFSFLRDPWNWLDSIVIGIAIVSYIPGITIKLLPLRTFRVFRALKAISVVSRLK
  VIVGALLRSVKKLVNVIILTFFCLSIFALVGQQLFMGSLNLKCISRDCKNISNPEAYDHC
  FEKKENSPEFKMCGIWMGNSACSIQYECKHTKINPDYNYTNFDNFGWSFLAMFRLMTQDS
  WEKLYQQTLRTTGLYSVFFFIVVIFLGSFYLINLTLAVVTMAYEEQNKNVAAEIEAKEKM
  FQEAQQLLKEEKEALVAMGIDRSSLTSLETSYFTPKKRKLFGNKKRKSFFLRESGKDQPP
  GSDSDEDCQKKPQLLEQTKRLSQNLSLDHFDEHGDPLQRQRALSAVSILTITMKEQEKSQ
  EPCLPCGENLASKYLVWNCCPQWLCVKKVLRTVMTDPFTELAITICIIINTVFLAMEHHK
  MEASFEKMLNIGNLVFTSIFIAEMCLKIIALDPYHYFRRGWNIFDSIVALLSFADVMNCV
  LQKRSWPFLRSFRVLRVFKLAKSWPTLNTLIKIIGNSVGALGSLTVVLVIVIFIFSVVGM
  QLFGRSFNSQKSPKLCNPTGPTVSCLRHWHMGDFWHSFLVVFRILCGEWIENMWECMQEA
  NASSSLCVIVFILITVIGKLVVLNLFIALLLNSFSNEERNGNLEGEARKTKVQLALDRFR
  RAFCFVRHTLEHFCHKWCRKQNLPQQKEVAGGCAAQSKDIIPLVMEMKRGSETQEELGIL
  TSVPKTLGVRHDWTWLAPLAEEEDDVEFSGEDNAQRITQPEPEQQAYELHQENKKPTSQR
  VQSVEIDMFSEDEPHLTIQDPRKKSDVTSILSECSTIDLQDGFGWLPEMVPKKQPERCLP
  KGFGCCFPCCSVDKRKPPWVIWWNLRKTCYQIVKHSWFESFIIFVILLSSGALIFEDVHL
  ENQPKIQELLNCTDIIFTHIFILEMVLKWVAFGFGKYFTSAWCCLDFIIVIVSVTTLINL
  MELKSFRTLRALRPLRALSQFEGMKVVVNALIGAIPAILNVLLVCLIFWLVFCILGVYFF
  SGKFGKCINGTDSVINYTIITNKSQCESGNFSWINQKVNFDNVGNAYLALLQVATFKGWM
  DIIYAAVDSTEKEQQPEFESNSLGYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQQKKLGG
  QDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKCQGLVFDIVTSQIFDIIIISLIILNM
  ISMMAESYNQPKAMKSILDHLNWVFVVIFTLECLIKIFALRQYYFTNGWNLFDCVVVLLS
  IVSTMISTLENQEHIPFPPTLFRIVRLARIGRILRLVRAARGIRTLLFALMMSLPSLFNI
  GLLLFLIMFIYAILGMNWFSKVNPESGIDDIFNFKTFASSMLCLFQISTSAGWDSLLSPM
  LRSKESCNSSSENCHLPGIATSYFVSYIIISFLIVVNMYIAVILENFNTATEESEDPLGE
  DDFDIFYEVWEKFDPEATQFIKYSALSDFADALPEPLRVAKPNKYQFLVMDLPMVSEDRL
  HCMDILFAFTARVLGGSDGLDSMKAMMEEKFMEANPLKKLYEPIVTTTKRKEEERGAAII
  QKAFRKYMMKVTKGDQGDQNDLENGPHSPLQTLCNGDLSSFGVAKGKVHCD

• Sequence length: 1791

Pathways

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
Congenital sensory neuropathy with selective loss of small myelinated fibers	Likely pathogenic	rs483352921	RCV000991311	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial episodic pain syndrome with predominantly lower limb involvement	Pathogenic; Likely pathogenic	rs775199760, rs138607170, rs1230622899, rs483352921	RCV003322677 RCV000074495 RCV002554846 RCV000074496	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary sensory and autonomic neuropathy type 7	Pathogenic; Likely pathogenic	rs1085307142, rs138607170, rs1230622899, rs483352920	RCV000489242 RCV001229351 RCV002554846 RCV000074494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
DOMINANTLY INHERITED SENSORY NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC PAIN SYNDROME, FAMILIAL, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor neuron disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY SENSORY AUTONOMIC NEUROPATHY, TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL EXTREME PAIN DISORDER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ERYTHROMELALGIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN11A-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory neuropathy	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	BEFREE	31498915		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	27598514	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Pain Insensitivity	Congenital Pain Insensitivity	CTD_human_DG	24036948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Pain Insensitivity	Congenital Pain Insensitivity	BEFREE	24813307, 26645915, 29949203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Pain Insensitivity	Congenital Pain Insensitivity	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	26746779	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25029427		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25029427	Associate	★☆☆☆☆ Found in Text Mining only
EPISODIC PAIN SYNDROME, FAMILIAL, 3	Episodic Pain Syndrome	GENOMICS_ENGLAND_DG	24036948, 24813307, 28298626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC PAIN SYNDROME, FAMILIAL, 3	Episodic Pain Syndrome	UNIPROT_DG	24207120, 24776970, 25791876, 27224030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC PAIN SYNDROME, FAMILIAL, 3	Episodic Pain Syndrome	ORPHANET_DG	24207120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC PAIN SYNDROME, FAMILIAL, 3	Episodic Pain Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC PAIN SYNDROME, FAMILIAL, 3	Episodic Pain Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythromelalgia	Erythromelalgia	Pubtator	27781142	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28298626		★☆☆☆☆ Found in Text Mining only
Familial episodic pain syndrome with predominantly lower limb involvement	Episodic Pain Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary sensory and autonomic neuropathy type 7	Hereditary Sensory And Autonomic Neuropathy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Sensory Autonomic Neuropathy, Type 5	Hereditary sensory and autonomic neuropathy	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypersomnia	Hypersomnia	BEFREE	29260264		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30538988		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	26186006		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	26186006	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11494332		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	37884687	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	32154989	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26462871		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	Hereditary Motor And Sensory Neuropathy	UNIPROT_DG	24036948, 26645915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	Hereditary Motor And Sensory Neuropathy	CLINVAR_DG	24036948, 25118027, 26746779, 28289907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	Hereditary Motor And Sensory Neuropathy	ORPHANET_DG	24036948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	Hereditary Motor And Sensory Neuropathy	GENOMICS_ENGLAND_DG	24813307, 25118027, 27503742, 28298626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	Hereditary Motor And Sensory Neuropathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	29069489		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	31498915		★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	26746779	Associate	★☆☆☆☆ Found in Text Mining only
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal extreme pain disorder	Paroxysmal extreme pain disorder	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Erythermalgia	Erythermalgia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Primary erythromelalgia	Erythromelalgia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	11494332		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	31498915		★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	24813307, 28665811, 30316835, 31551682		★☆☆☆☆ Found in Text Mining only
Sodium channelopathy-related small fiber neuropathy	Sodium Channelopathy-Related Small Fiber Neuropathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only