Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	285175
Gene name	Unc-80 subunit of NALCN channel complex
Gene symbol	UNC80
Synonyms (NCBI Gene)	C2orf21UNC-80
Chromosome	2
Chromosome location	2q34
Summary	The protein encoded by this gene is a component of a voltage-independent `leak` ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs74517001	C>T	Not-provided, pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs145935313	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs192242889	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs199561408	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs200473652	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs200659479	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs751913925	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs761062440	T>C	Likely-pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs767633598	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs864321622	C>A,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, upstream transcript variant, synonymous variant
rs864321623	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs869025316	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025317	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs869025318	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs869025319	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs869025320	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041094	G>A	Likely-pathogenic	Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs886043644	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs940057866	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant, missense variant
rs981874506	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1064796916	G>A	Pathogenic	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1135401813	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1186997983	G>C,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1262654975	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1266989763	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1271766753	C>A,T	Likely-pathogenic	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs1553523425	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553527439	->GG	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553619640	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553621490	AG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1553621496	T>G	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1574434743	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1574574226	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1574579609	AC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1574855486	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575147319	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575179679	T>G	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, intron variant
rs1575183610	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT721106	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT721105	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT721104	hsa-miR-1323	HITS-CLIP	19536157
MIRT721103	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT721102	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT721101	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT721100	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT721099	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721098	hsa-miR-4999-5p	HITS-CLIP	19536157
MIRT721097	hsa-miR-7974	HITS-CLIP	19536157
MIRT721096	hsa-miR-4687-3p	HITS-CLIP	19536157
MIRT721106	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT721105	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT721104	hsa-miR-1323	HITS-CLIP	19536157
MIRT721103	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT721102	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT721101	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT721100	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT721099	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721098	hsa-miR-4999-5p	HITS-CLIP	19536157
MIRT721097	hsa-miR-7974	HITS-CLIP	19536157
MIRT721096	hsa-miR-4687-3p	HITS-CLIP	19536157
MIRT1475631	hsa-miR-103a	CLIP-seq
MIRT1475632	hsa-miR-107	CLIP-seq
MIRT1475633	hsa-miR-1183	CLIP-seq
MIRT1475634	hsa-miR-1294	CLIP-seq
MIRT1475635	hsa-miR-129-5p	CLIP-seq
MIRT1475636	hsa-miR-148a	CLIP-seq
MIRT1475637	hsa-miR-148b	CLIP-seq
MIRT1475638	hsa-miR-152	CLIP-seq
MIRT1475639	hsa-miR-15a	CLIP-seq
MIRT1475640	hsa-miR-15b	CLIP-seq
MIRT1475641	hsa-miR-16	CLIP-seq
MIRT1475642	hsa-miR-195	CLIP-seq
MIRT1475643	hsa-miR-3163	CLIP-seq
MIRT1475644	hsa-miR-3168	CLIP-seq
MIRT1475645	hsa-miR-3545-3p	CLIP-seq
MIRT1475646	hsa-miR-3616-5p	CLIP-seq
MIRT1475647	hsa-miR-3647-5p	CLIP-seq
MIRT1475648	hsa-miR-3653	CLIP-seq
MIRT1475649	hsa-miR-3658	CLIP-seq
MIRT1475650	hsa-miR-424	CLIP-seq
MIRT1475651	hsa-miR-4264	CLIP-seq
MIRT1475652	hsa-miR-4312	CLIP-seq
MIRT1475653	hsa-miR-4316	CLIP-seq
MIRT1475654	hsa-miR-4328	CLIP-seq
MIRT1475655	hsa-miR-4524	CLIP-seq
MIRT1475656	hsa-miR-4635	CLIP-seq
MIRT1475657	hsa-miR-4645-3p	CLIP-seq
MIRT1475658	hsa-miR-4703-3p	CLIP-seq
MIRT1475659	hsa-miR-4735-5p	CLIP-seq
MIRT1475660	hsa-miR-4747-5p	CLIP-seq
MIRT1475661	hsa-miR-4775	CLIP-seq
MIRT1475662	hsa-miR-4797-3p	CLIP-seq
MIRT1475663	hsa-miR-491-3p	CLIP-seq
MIRT1475664	hsa-miR-497	CLIP-seq
MIRT1475665	hsa-miR-501-3p	CLIP-seq
MIRT1475666	hsa-miR-502-3p	CLIP-seq
MIRT1475667	hsa-miR-503	CLIP-seq
MIRT1475668	hsa-miR-511	CLIP-seq
MIRT1475669	hsa-miR-513a-5p	CLIP-seq
MIRT1475670	hsa-miR-515-3p	CLIP-seq
MIRT1475671	hsa-miR-519e	CLIP-seq
MIRT1475672	hsa-miR-526b	CLIP-seq
MIRT1475673	hsa-miR-556-3p	CLIP-seq
MIRT1475674	hsa-miR-573	CLIP-seq
MIRT1475675	hsa-miR-578	CLIP-seq
MIRT1475676	hsa-miR-590-3p	CLIP-seq
MIRT1475677	hsa-miR-595	CLIP-seq
MIRT1475678	hsa-miR-646	CLIP-seq
MIRT1475679	hsa-miR-1305	CLIP-seq
MIRT1475680	hsa-miR-329	CLIP-seq
MIRT1475681	hsa-miR-3613-3p	CLIP-seq
MIRT1475682	hsa-miR-362-3p	CLIP-seq
MIRT1475683	hsa-miR-3689d	CLIP-seq
MIRT1475684	hsa-miR-3941	CLIP-seq
MIRT1475685	hsa-miR-410	CLIP-seq
MIRT1475686	hsa-miR-4659a-3p	CLIP-seq
MIRT1475687	hsa-miR-4659b-3p	CLIP-seq
MIRT1475688	hsa-miR-4694-3p	CLIP-seq
MIRT1475689	hsa-miR-4778-3p	CLIP-seq
MIRT1475690	hsa-miR-4789-3p	CLIP-seq
MIRT1475691	hsa-miR-4796-5p	CLIP-seq
MIRT1475692	hsa-miR-4799-5p	CLIP-seq
MIRT1475663	hsa-miR-491-3p	CLIP-seq
MIRT1475693	hsa-miR-495	CLIP-seq
MIRT1475694	hsa-miR-498	CLIP-seq
MIRT1475665	hsa-miR-501-3p	CLIP-seq
MIRT1475666	hsa-miR-502-3p	CLIP-seq
MIRT1475695	hsa-miR-522	CLIP-seq
MIRT1475696	hsa-miR-548g	CLIP-seq
MIRT1475697	hsa-miR-548l	CLIP-seq
MIRT1475698	hsa-miR-548n	CLIP-seq
MIRT1475699	hsa-miR-548p	CLIP-seq
MIRT1475700	hsa-miR-603	CLIP-seq
MIRT2143354	hsa-miR-421	CLIP-seq
MIRT1475680	hsa-miR-329	CLIP-seq
MIRT2363607	hsa-miR-330-3p	CLIP-seq
MIRT2363608	hsa-miR-3607-3p	CLIP-seq
MIRT1475682	hsa-miR-362-3p	CLIP-seq
MIRT2363609	hsa-miR-3924	CLIP-seq
MIRT1475684	hsa-miR-3941	CLIP-seq
MIRT2363610	hsa-miR-4291	CLIP-seq
MIRT2363611	hsa-miR-4310	CLIP-seq
MIRT1475654	hsa-miR-4328	CLIP-seq
MIRT2363612	hsa-miR-4738-3p	CLIP-seq
MIRT1475690	hsa-miR-4789-3p	CLIP-seq
MIRT1475700	hsa-miR-603	CLIP-seq
MIRT2363613	hsa-miR-944	CLIP-seq
MIRT2396699	hsa-miR-1224-5p	CLIP-seq
MIRT1475680	hsa-miR-329	CLIP-seq
MIRT1475682	hsa-miR-362-3p	CLIP-seq
MIRT2396700	hsa-miR-3915	CLIP-seq
MIRT1475684	hsa-miR-3941	CLIP-seq
MIRT2396701	hsa-miR-4689	CLIP-seq
MIRT2396702	hsa-miR-4751	CLIP-seq
MIRT2396703	hsa-miR-4759	CLIP-seq
MIRT1475690	hsa-miR-4789-3p	CLIP-seq
MIRT1475672	hsa-miR-526b	CLIP-seq
MIRT1475700	hsa-miR-603	CLIP-seq
MIRT2462936	hsa-miR-1205	CLIP-seq
MIRT2462937	hsa-miR-3127-5p	CLIP-seq
MIRT2462938	hsa-miR-3171	CLIP-seq
MIRT2462939	hsa-miR-3200-5p	CLIP-seq
MIRT2462940	hsa-miR-376a	CLIP-seq
MIRT2462941	hsa-miR-376b	CLIP-seq
MIRT2462942	hsa-miR-3918	CLIP-seq
MIRT2462943	hsa-miR-4649-3p	CLIP-seq
MIRT2462944	hsa-miR-548o	CLIP-seq
MIRT2462945	hsa-miR-604	CLIP-seq
MIRT2462946	hsa-miR-647	CLIP-seq
MIRT2462947	hsa-miR-888	CLIP-seq
MIRT2694765	hsa-miR-28-5p	CLIP-seq
MIRT2694766	hsa-miR-3139	CLIP-seq
MIRT2694767	hsa-miR-3606	CLIP-seq
MIRT2694768	hsa-miR-3619-3p	CLIP-seq
MIRT2694769	hsa-miR-4633-3p	CLIP-seq
MIRT2694770	hsa-miR-708	CLIP-seq
MIRT2694771	hsa-miR-921	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005261	Function	Monoatomic cation channel activity	IBA
GO:0005886	Component	Plasma membrane	IDA	32494638
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IBA
GO:0034703	Component	Cation channel complex	IBA
GO:0055080	Process	Monoatomic cation homeostasis	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA

MIM	HGNC	e!Ensembl
612636	26582	ENSG00000144406

Q8N2C7

Protein name

Protein unc-80 homolog

Protein function

Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (By similarity). Activated by neuropeptides substance P, neurotensin, and extra

PDB

7SX3 , 7SX4 , 7WJI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15778	UNC80	16 → 236	Cation channel complex component UNC80	Family

Tissue specificity

TISSUE SPECIFICITY: Moderately expressed in fetal brain, spinal cord, skeletal muscle, thymus, spleen, fetal liver, small intestine, colon, kidney and uterus. Highly expressed in adrenal gland, prostate and testis, as well as in brain and cerebellum. {ECO

Sequence

MVKRKSSEGQEQDGGRGIPLPIQTFLWRQTSAFLRPKLGKQYEASCVSFERVLVENKLHG
LSPALSEAIQSISRWELVQAALPHVLHCTATLLSNRNKLGHQDKLGVAETKLLHTLHWML
LEAPQDCNNERFGGTDRGSSWGGSSSAFIHQVENQGSPGQPCQSSSNDEEENNRRKIFQN
SMATVELFVFLFAPLVHRIKESDLTFRLASGLVIWQPMWEHRQPGVSGFTALVKPIRNII
TAKRSSPINSQSRTCESPNQDARHLEGLQVVCETFQSDSISPKATISGCHRGNSFDGSLS
SQTSQERGPSHSRASLVIPPCQRSRYATYFDVAVLRCLLQPHWSEEGTQWSLMYYLQRLR
HMLEEKPEKPPEPDIPLLPRPRSSSMVAAAPSLVNTHKTQDLTMKCNEEEKSLSSEAFSK
VSLTNLRRSAVPDLSSDLGMNIFKKFKSRKEDRERKGSIPFHHTGKRRPRRMGVPFLLHE
DHLDVSPTRSTFSFGSFSGLGEDRRGIEKGGWQTTILGKLTRRGSSDAATEMESLSARHS
HSHHTLVSDLPDPSNSHGENTVKEVRSQISTITVATFNTTLASFNVGYADFFNEHMRKLC
NQVPIPEMPHEPLACANLPRSLTDSCINYSYLEDTEHIDGTNNFVHKNGMLDLSVVLKAV
YLVLNHDISSRICDVALNIVECLLQLGVVPCVEKNRKKSENKENETLEKRPSEGAFQFKG
VSGSSTCGFGGPAVSGAGDGGGEEGGGGDGGGGGGDGGGGGGGGGGPYEKNDKNQEKDES
TPVSNHRLALTMLIKIVKSLGCAYGCGEGHRGLSGDRLRHQVFRENAQNCLTKLYKLDKM
QFRQTMRDYVNKDSLNNVVDFLHALLGFCMEPVTDNKAGFGNNFTTVDNKSTAQNVEGII
VSAMFKSLITRCASTTHELHSPENLGLYCDIRQLVQFIKEAHGNVFRRVALSALLDSAEK
LAPGKKVEENEQESKPAGSKRSEAGSIVDKGQVSSAPEECRSFMSGRPSQTPEHDEQMQG
ANLGRKDFWRKMFKSQSAASDTSSQSEQDTSECTTAHSGTTSDRRARSRSRRISLRKKLK
LPIGKRNWLKRSSLSGLADGVEDLLDISSVDRLSFIRQSSKVKFTSAVKLSEGGPGSGME
NGRDEEENFFKRLGCHSFDDHLSPNQDGGKSKNVVNLGAIRQGMKRFQFLLNCCEPGTIP
DASILAAALDLEAPVVARAALFLECARFVHRCNRGNWPEWMKGHHVNITKKGLSRGRSPI
VGNKRNQKLQWNAAKLFYQWGDAIGVRLNELCHGESESPANLLGLIYDEETKRRLRKEDE
EEDFLDDSTVNPSKCGCPFALKMAACQLLLEITTFLRETFSCLPRPRTEPLVDLESCRLR
LDPELDRHRYERKISFAGVLDENEDSKDSLHSSSHTLKSDAGVEEKKEGSPWSASEPSIE
PEGMSNAGAEENYHRNMSWLHVMILLCNQQSFICTHVDYCHPHCYLHHSRSCARLVRAIK
LLYGDSVDSLRESSNISSVALRGKKQKECSDKSCLRTPSLKKRVSDANLEGKKDSGMLKY
IRLQVMSLSPAPLSLLIKAAPILTEEMYGDIQPAAWELLLSMDEHMAGAAAAMFLLCAVK
VPEAVSDMLMSEFHHPETVQRLNAVLKFHTLWRFRYQVWPRMEEGAQQIFKIPPPSINFT
LPSPVLGMPSVPMFDPPWVPQCSGSVQDPINEDQSKSFSARAVSRSHQRAEHILKNLQQE
EEKKRLGREASLITAIPITQEACYEPTCTPNSEPEEEVEEVTNLASRRLSVSPSCTSSTS
HRNYSFRRGSVWSVRSAVSAEDEEHTTEHTPNHHVPQPPQAVFPACICAAVLPIVHLMED
GEVREDGVAVSAVAQQVLWNCLIEDPSTVLRHFLEKLTISNRQDELMYMLRKLLLNIGDF
PAQTSHILFNYLVGLIMYFVRTPCEWGMDAISATLTFLWEVVGYVEGLFFKDLKQTMKKE
QCEVKLLVTASMPGTKTLVVHGQNECDIPTQLPVHEDTQFEALLKECLEFFNIPESQSTH
YFLMDKRWNLIHYNKTYVRDIYPFRRSVSPQLNLVHMHPEKGQELIQKQVFTRKLEEVGR
VLFLISLTQKIPTAHKQSHVSMLQEDLLRLPSFPRSAIDAEFSLFSDPQAGKELFGLDTL
QKSLWIQLLEEMFLGMPSEFPWGDEIMLFLNVFNGALILHPEDSALLRQYAATVINTAVH
FNHLFSLSGYQWILPTMLQVYSDYESNPQLRQAIEFACHQFYILHRKPFVLQLFASVAPL
LEFPDAANNGPSKGVSAQCLFDLLQSLEGETTDILDILELVKAEKPLKSLDFCYGNEDLT
FSISEAIKLCVTVVAYAPESFRSLQMLMVLEALVPCYLQKLKRQTSQVETVPAAREEIAA
TAALATSLQALLYSVEVLTRPMTAPQMSRCDQGHKGTTTANHTMSSGVNTRYQEQGAKLH
FIRENLHLLEEGQGIPREELDERIAREEFRRPRESLLNICTEFYKHCGPRLKILQNLAGE
PRVIALELLDVKSHMRLAEIAHSLLKLAPYDTQTMESRGLRRYIMEMLPITDWTAEAVRP
ALILILKRLDRMFNKIHKMPTLRRQVEWEPASNLIEGVCLTLQRQPIISFLPHLRSLINV
CVNLVMGVVGPSSVADGLPLLHLSPYLSPPLPFSTAVVRLVALQIQALKEDFPLSHVISP
FTNQERREGMLLNLLIPFVLTVGSGSKDSPWLEQPEVQLLLQTVINVLLPPRIISTSRSK
NFMLESSPAHCSTPGDAGKDLRREGLAESTSQAAYLALKVILVCFERQLGSQWYWLSLQV
KEMALRKVGGLALWDFLDFIVRTRIPIFVLLRPFIQCKLLAQPAENHEELSARQHIADQL
ERRFIPRPLCKSSLIAEFNSELKILKEAVHSGSAYQGKTSISTVGTSTSAYRLSLATMSR
SNTGTGTVWEQDSEPSQQASQDTLSRTDEEDEENDSISMPSVVSEQEAYLLSAIGRRRFS
SHVSSMSVPQAEVGMLPSQSEPNVLDDSQGLAAEGSLSRVASIQSEPGQQNLLVQQPLGR
KRGLRQLRRPLLSRQKTQTEPRNRQGARLSTTRRSIQPKTKPSADQKRSVTFIEAQPEPA
AAPTDALPATGQLQGCSPAPSRKPEAMDEPVLTSSPAIVVADLHSVSPKQSENFPTEEGE
KEEDTEAQGATAHSPLSAQLSDPDDFTGLETSSLLQHGDTVLHISEENGMENPLLSSQFT
FTPTELGKTDAVLDESHV

Sequence length

3258

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Encephalopathy	Likely pathogenic; Pathogenic	rs864321623, rs200659479, rs864321622	RCV000203565 RCV000203562 RCV000203568	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia, infantile, with psychomotor retardation and characteristic facies	Likely pathogenic; Pathogenic	rs767633598	RCV000616574	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Pathogenic	rs1553621490	RCV005248347	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Likely pathogenic; Pathogenic	rs1036056877, rs2081563738, rs2153828826, rs1280592781, rs2124930786, rs371905161, rs538956139, rs750226213, rs2092524250, rs2125016932, rs2124981606, rs2471194994, rs1241756596, rs864321623, rs200659479 View all (30 more)	RCV001329493 RCV001329497 RCV001785115 RCV001785116 RCV001784007 View all (40 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs1289499829	RCV005626383	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate global developmental delay	Likely pathogenic	rs1355480465	RCV001800166	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
UNC80-related disorder	Likely pathogenic; Pathogenic	rs2470895545, rs200659479, rs761062440, rs74517001	RCV004529162 RCV004528993 RCV000509542 RCV000509402	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26708751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29049217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Apnea	Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27513830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	27513830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30092901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29572195		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	26708751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopic astigmatism	Hyperopic astigmatism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2	Hypotonia, With Psychomotor Retardation And Characteristic Facies	GENOMICS_ENGLAND_DG	25529582, 26708751		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2	Hypotonia, With Psychomotor Retardation And Characteristic Facies	UNIPROT_DG	26545877, 26708751, 26708753		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2	Hypotonia, With Psychomotor Retardation And Characteristic Facies	CLINVAR_DG	30167850		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2	Hypotonia, With Psychomotor Retardation And Characteristic Facies	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypotonia, speech impairment, severe cognitive delay syndrome	Hypotonia, Speech Impairment, Severe Cognitive Delay Syndrome	CLINVAR_DG	26708751, 26708753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotonia-speech impairment-severe cognitive delay syndrome	Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26708751, 30092901	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	29572195		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29049217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	27513830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound static encephalopathy	Encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	30167850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	30092901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

UNC80 (unc-80 subunit of NALCN channel complex)