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	203859
Gene name	Anoctamin 5
Gene symbol	ANO5
Synonyms (NCBI Gene)	GDD1LGMD2LLGMDR12TMEM16E
Chromosome	11
Chromosome location	11p14.3
Summary	This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript

Show/Hide all (96)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34994927	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs119103234	T>C,G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854521	->A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs137854523	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137854524	C>G	Pathogenic	Coding sequence variant, missense variant
rs137854526	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137854527	A>G	Pathogenic	Coding sequence variant, missense variant
rs137854528	CA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854529	C>T	Pathogenic	Coding sequence variant, missense variant
rs139618850	G>A	Uncertain-significance, affects	Coding sequence variant, missense variant
rs140903276	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142027093	G>A	Pathogenic	Splice donor variant
rs142073798	T>A,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs142858990	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143331003	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143777403	A>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs143977836	TTTT>-,TT	Conflicting-interpretations-of-pathogenicity	Intron variant
rs145127621	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs146341538	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs147121216	G>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148293985	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148516756	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs188150039	C>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199501657	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs199888040	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201725369	C>G,T	Pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs202034123	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs281865464	G>A	Pathogenic	Intron variant
rs281865467	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs281865480	->A	Pathogenic	Coding sequence variant, frameshift variant
rs368970223	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs369103376	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372221490	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs375014127	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs377549896	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397514736	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs398124625	G>A	Pathogenic	Splice acceptor variant
rs398124626	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs529961953	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs541372136	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs561719071	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs563666662	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs566415362	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs747719953	C>A,G,T	Pathogenic, likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs749645231	C>T	Pathogenic	Stop gained, coding sequence variant
rs752982710	G>-	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs753138577	C>G	Pathogenic	Stop gained, coding sequence variant
rs754889480	C>G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs759064817	->A	Pathogenic	Coding sequence variant, frameshift variant
rs762035813	C>A,T	Pathogenic-likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant
rs765262083	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs765427574	G>A	Pathogenic	Coding sequence variant, stop gained
rs770694933	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs773736505	A>G	Likely-pathogenic	Splice acceptor variant
rs776474397	A>G	Likely-pathogenic	Splice acceptor variant
rs776859202	AAAGA>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs780109230	G>A	Likely-pathogenic	Splice acceptor variant
rs781027702	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794727158	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727231	TCATAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727350	TTC>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant
rs794727745	CAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044667	->A	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs868484837	G>-	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs878854367	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886042442	G>A	Pathogenic	Splice donor variant
rs886042556	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886043074	G>T	Pathogenic	Stop gained, coding sequence variant
rs886043172	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043327	TTAACTTAACA>-	Pathogenic-likely-pathogenic	Splice acceptor variant, intron variant
rs886044020	GA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886044915	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518855	->T	Likely-pathogenic	Splice donor variant
rs1064793358	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1168346560	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1302414683	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1323349209	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs1335126943	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1364860348	T>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1380525804	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1403946332	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs1458677325	GATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1488095558	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554924356	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554927050	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554929292	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554929301	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1554930267	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554930314	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554933716	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1564922516	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564930625	C>T	Pathogenic	Coding sequence variant, stop gained
rs1564936489	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590266227	A>T	Pathogenic	Coding sequence variant, stop gained
rs1590266513	->AGCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1590300702	T>G	Likely-pathogenic	Splice donor variant

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT441220	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT441220	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT785718	hsa-miR-140-5p	CLIP-seq
MIRT785719	hsa-miR-203	CLIP-seq
MIRT785720	hsa-miR-23a	CLIP-seq
MIRT785721	hsa-miR-23b	CLIP-seq
MIRT785722	hsa-miR-23c	CLIP-seq
MIRT785723	hsa-miR-24	CLIP-seq
MIRT785724	hsa-miR-3158-3p	CLIP-seq
MIRT785725	hsa-miR-3545-5p	CLIP-seq
MIRT785726	hsa-miR-4264	CLIP-seq
MIRT785727	hsa-miR-4437	CLIP-seq
MIRT785728	hsa-miR-4446-3p	CLIP-seq
MIRT785729	hsa-miR-4460	CLIP-seq
MIRT785730	hsa-miR-4704-3p	CLIP-seq
MIRT785731	hsa-miR-4753-3p	CLIP-seq
MIRT785732	hsa-miR-622	CLIP-seq
MIRT785733	hsa-miR-1246	CLIP-seq
MIRT785734	hsa-miR-3616-5p	CLIP-seq
MIRT785735	hsa-miR-3647-5p	CLIP-seq
MIRT785736	hsa-miR-382	CLIP-seq
MIRT785737	hsa-miR-431	CLIP-seq
MIRT785738	hsa-miR-4320	CLIP-seq
MIRT785739	hsa-miR-4511	CLIP-seq
MIRT785740	hsa-miR-4635	CLIP-seq
MIRT785741	hsa-miR-4699-3p	CLIP-seq
MIRT785742	hsa-miR-4768-5p	CLIP-seq
MIRT785743	hsa-miR-548ac	CLIP-seq
MIRT785744	hsa-miR-548ad	CLIP-seq
MIRT785745	hsa-miR-548ae	CLIP-seq
MIRT785746	hsa-miR-548aj	CLIP-seq
MIRT785747	hsa-miR-548am	CLIP-seq
MIRT785748	hsa-miR-548b-3p	CLIP-seq
MIRT785749	hsa-miR-548d-3p	CLIP-seq
MIRT785750	hsa-miR-548x	CLIP-seq
MIRT785751	hsa-miR-548z	CLIP-seq
MIRT785752	hsa-miR-573	CLIP-seq
MIRT1931795	hsa-miR-1305	CLIP-seq
MIRT1931796	hsa-miR-3163	CLIP-seq
MIRT1931795	hsa-miR-1305	CLIP-seq
MIRT2172258	hsa-miR-3920	CLIP-seq
MIRT2172259	hsa-miR-124	CLIP-seq
MIRT2172260	hsa-miR-3180-5p	CLIP-seq
MIRT2172261	hsa-miR-506	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001778	Process	Plasma membrane repair	IMP	33496727
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	22075693
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	22946059
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22946059
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0046983	Function	Protein dimerization activity	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	22946059

MIM	HGNC	e!Ensembl
608662	27337	ENSG00000171714

Q75V66

Protein name

Anoctamin-5 (Gnathodiaphyseal dysplasia 1 protein) (Transmembrane protein 16E)

Protein function

Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:23047743, ECO:0000269|PubMed:33496727

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16178	Anoct_dimer	72 → 289	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
PF04547	Anoctamin	292 → 868	Calcium-activated chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells. {ECO:0000269|PubMed:15067359, ECO:0000269|PubMed:1

Sequence

MGDPDLLEVLAEEGEKVNKHIDYSFQMSEQSLSSRETSFLINEETMPAKRFNLFLRRRLM
FQKNQQSKDSIFFRDGIRQIDFVLSYVDDVKKDAELKAERRKEFETNLRKTGLELEIEDK
RDSEDGRTYFVKIHAPWEVLVTYAEVLGIKMPIKESDIPRPKHTPISYVLGPVRLPLSVK
YPHPEYFTAQFSRHRQELFLIEDQATFFPSSSRNRIVYYILSRCPFGIEDGKKRFGIERL
LNSNTYSSAYPLHDGQYWKPSEPPNPTNERYTLHQNWARFSYFYKEQPLDLIKNYYGEKI
GIYFVFLGFYTEMLFFAAVVGLACFIYGLLSMEHNTSSTEICDPEIGGQMIMCPLCDQVC
DYWRLNSTCLASKFSHLFDNESTVFFAIFMGIWVTLFLEFWKQRQARLEYEWDLVDFEEE
QQQLQLRPEFEAMCKHRKLNAVTKEMEPYMPLYTRIPWYFLSGATVTLWMSLVVTSMVAV
IVYRLSVFATFASFMESDASLKQVKSFLTPQITTSLTGSCLNFIVILILNFFYEKISAWI
TKMEIPRTYQEYESSLTLKMFLFQFVNFYSSCFYVAFFKGKFVGYPGKYTYLFNEWRSEE
CDPGGCLIELTTQLTIIMTGKQIFGNIKEAIYPLALNWWRRRKARTNSEKLYSRWEQDHD
LESFGPLGLFYEYLETVTQFGFVTLFVASFPLAPLLALINNIVEIRVDAWKLTTQYRRTV
ASKAHSIGVWQDILYGMAVLSVATNAFIVAFTSDIIPRLVYYYAYSTNATQPMTGYVNNS
LSVFLIADFPNHTAPSEKRDFITCRYRDYRYPPDDENKYFHNMQFWHVLAAKMTFIIVME
HVVFLVKFLLAWMIPDVPKDVVERIKREKLMTIKILHDFELNKLKENLGINSNEFAKHVM
IEENKAQLAKSTL

Sequence length

913

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		Stimuli-sensing channels

2528

Show/Hide Causal Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs137854526, rs201725369, rs776859202	RCV001814063 RCV001814090 RCV001814138
Achilles tendon contracture	Pathogenic	rs137854521	RCV000627021
Acute rhabdomyolysis	Likely pathogenic; Pathogenic	rs137854523	RCV005865150
ANO5 Muscle Disease	Pathogenic	rs137854529	RCV005249979
ANO5-related disorder	Pathogenic; Likely pathogenic	rs137854524, rs137854521, rs137854523, rs201725369, rs566415362, rs142073798, rs770694933	RCV004732524 RCV000778317 RCV000369126 RCV004732749 RCV004541281 RCV000778320 RCV004527671
ANO5-related muscular dystrophy	Pathogenic	rs137854521	RCV003332991
Autosomal recessive limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs199501657, rs398124626, rs137854527, rs137854524, rs137854521, rs137854523, rs137854529, rs794727158, rs142027093, rs794727350, rs201725369, rs794727745, rs776859202, rs139618850, rs142073798 View all (6 more)	RCV004700398 RCV004998217 RCV004998250 RCV003234889 RCV002307353 RCV003993730 RCV004998071 RCV003479044 RCV005864458 RCV004998373 RCV002282002 RCV004786492 RCV004999194 RCV003323487 RCV005355594 RCV004525917 RCV005600894 RCV005000183 RCV006264055 RCV003117452 RCV004800563
Autosomal recessive limb-girdle muscular dystrophy type 2L	Likely pathogenic; Pathogenic	rs199501657, rs398124625, rs398124626, rs766994696, rs2133747657, rs146341538, rs368389717, rs139639078, rs2133589044, rs2133702263, rs2133747497, rs2133795361, rs746738154, rs747719953, rs747146523 View all (102 more)	RCV001377409 RCV000176019 RCV000509090 RCV001390467 RCV001385937 RCV001389595 RCV002034569 RCV005225497 RCV001787237 RCV001794938 RCV001904190 RCV001968909 RCV001978757 RCV001995240 RCV001972639 RCV001915793 RCV001971059 RCV001887501 RCV001892278 RCV002037879 RCV001999983 RCV001900536 RCV001946654 RCV002008654 RCV001961568 RCV002040151 RCV001983040 RCV000405473 RCV000645348 RCV001890542 RCV001963575 RCV002288280 RCV000002246 RCV000002248 RCV000002249 RCV000032966 RCV003058294 RCV003058295 RCV003076248 RCV000706748 RCV002632405 RCV000627783 RCV001852151 RCV003765088 RCV000645349 RCV000178420 RCV002586991 RCV002705861 RCV002819827 RCV002847045 RCV002857138 RCV002913356 RCV000201014 RCV000201148 RCV003017019 RCV003046242 RCV003019486 RCV003034373 RCV000233000 RCV003778733 RCV000509433 RCV000758149 RCV000645350 RCV000700782 RCV000691930 RCV000327025 RCV003765638 RCV000331633 RCV001859686 RCV001215385 RCV003340788 RCV003783561 RCV003781215 RCV003787818 RCV003793910 RCV003790822 RCV003799705 RCV003801273 RCV003800547 RCV003817708 RCV003813459 RCV000812498 RCV000691138 RCV000516073 RCV000560191 RCV000545507 RCV000535657 RCV000527894 RCV000032553 RCV000032554 RCV001854062 RCV003767406 RCV000754754 RCV000800226 RCV001860483 RCV000645351 RCV000645355 RCV000663413 RCV000664069 RCV000701545 RCV000690282 RCV001855768 RCV001855686 RCV003768226 RCV005213380 RCV001240637 RCV000757942 RCV003768423 RCV000805467 RCV000798082 RCV000855428 RCV000855432 RCV001004964 RCV001004953 RCV005225226 RCV001380381 RCV001223530 RCV001218905 RCV003770324 RCV001299170
Distal muscle weakness	Likely pathogenic; Pathogenic	rs760137559	RCV000627022
Elevated circulating creatine kinase concentration	Pathogenic; Likely pathogenic	rs137854521, rs886044915, rs776474397, rs760137559	RCV000627021 RCV000393148 RCV000515749 RCV000627022
Fatty replacement of skeletal muscle	Likely pathogenic; Pathogenic	rs760137559	RCV000627022
Gnathodiaphyseal dysplasia	Likely pathogenic; Pathogenic	rs199501657, rs398124625, rs398124626, rs766994696, rs2133747657, rs146341538, rs368389717, rs139639078, rs2133589044, rs2133747497, rs2133795361, rs746738154, rs747719953, rs747146523, rs1853968715 View all (99 more)	RCV001377409 RCV000645359 RCV000509090 RCV001390467 RCV001385937 RCV001389595 RCV002034569 RCV005225497 RCV005213595 RCV001904190 RCV001968909 RCV001978757 RCV001995240 RCV001972639 RCV001915793 RCV001971059 RCV001887501 RCV001892278 RCV002037879 RCV001999983 RCV001900536 RCV001946654 RCV002008654 RCV001961568 RCV002040151 RCV001983040 RCV000405473 RCV000645348 RCV001890542 RCV001963575 RCV000002244 RCV000002245 RCV000762831 RCV000627781 RCV000627782 RCV000811162 RCV003058294 RCV003058295 RCV003076248 RCV000706748 RCV002632405 RCV000627783 RCV001852151 RCV003765088 RCV000645349 RCV000684805 RCV002586991 RCV002705861 RCV002819827 RCV002847045 RCV002857138 RCV002913356 RCV000823520 RCV001853222 RCV003017019 RCV003046242 RCV003019486 RCV003034373 RCV001853366 RCV003778733 RCV000509433 RCV000807697 RCV000645350 RCV000700782 RCV000691930 RCV000791428 RCV003765638 RCV001390092 RCV001859686 RCV001215385 RCV003783561 RCV003781215 RCV003787818 RCV003793910 RCV003790822 RCV003799705 RCV003801273 RCV003800547 RCV003817708 RCV003813459 RCV001196262 RCV000812498 RCV000691138 RCV000503034 RCV005208715 RCV000545507 RCV000535657 RCV000527894 RCV001383897 RCV001854062 RCV003767406 RCV000800226 RCV001860483 RCV000645351 RCV000645355 RCV003767924 RCV000701545 RCV000690282 RCV001855768 RCV001855686 RCV003768226 RCV005213380 RCV001240637 RCV003768423 RCV000805467 RCV000798082 RCV001858524 RCV000054502 RCV000988505 RCV000991438 RCV001862746 RCV001862743 RCV005225226 RCV001196016 RCV001223530 RCV001218905 RCV003770324 RCV001299170
Hereditary fructosuria	Likely pathogenic; Pathogenic	rs137854523	RCV000825558
Intellectual disability	Pathogenic	rs137854521	RCV001251667
Lower limb amyotrophy	Pathogenic	rs137854521	RCV000627021
Lower limb muscle weakness	Pathogenic	rs137854521	RCV000627021
Miyoshi muscular dystrophy 3	Pathogenic; Likely pathogenic	rs768835530, rs398124626, rs2133589044, rs137854526, rs137854524, rs137854521, rs137854523, rs137854529, rs142027093, rs201725369, rs776859202, rs139618850, rs142073798, rs886043172, rs281865480 View all (7 more)	RCV001330859 RCV000509090 RCV005409837 RCV002464119 RCV000762831 RCV000002247 RCV000762830 RCV000002250 RCV000762832 RCV001254062 RCV000509433 RCV000758149 RCV002502129 RCV001333777 RCV001729507 RCV003314317 RCV000762829 RCV000032968 RCV005409691 RCV000757942 RCV003985437 RCV001254063
Muscular dystrophy	Likely pathogenic; Pathogenic	rs368970223	RCV000664066
Myopathy	Pathogenic; Likely pathogenic	rs137854521, rs1057518855	RCV000414931 RCV000414813
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs137854523	RCV005887208
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs137854523	RCV005887209
Polycystic kidney disease	Pathogenic	rs137854521	RCV000627021

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs116081719	RCV005916212
ANO5-Related Muscle Diseases	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs78899595, rs76850415, rs4312063, rs7481951, rs61746201, rs34969327, rs78266558, rs12792259, rs61879341, rs35804601, rs200631556, rs61910685, rs148293985, rs143777403, rs142858990 View all (120 more)	RCV001105484 RCV001103652 RCV001108717 RCV001105483 RCV001103648 RCV001103653 RCV001103563 RCV001106538 RCV001106537 RCV001106640 RCV001108801 RCV001103650 RCV001105586 RCV001108714 RCV001103557 RCV001105482 RCV001103562 RCV001103654 RCV001105485 RCV001105479 RCV001108716 RCV001106645 RCV001105480 RCV001103558 RCV001103647 RCV005416272 RCV001108802 RCV001106643 RCV001106533 RCV001106534 RCV001106539 RCV001108713 RCV001106646 RCV001105588 RCV001106737 RCV001106739 RCV001106741 RCV001106743 RCV001108903 RCV001108905 RCV001103747 RCV001105691 RCV001105694 RCV001106813 RCV001106814 RCV001107469 RCV001103836 RCV001103841 RCV001105788 RCV001106899 RCV001106901 RCV001108712 RCV001106641 RCV001108797 RCV001108803 RCV001108804 RCV001103651 RCV001106744 RCV001108902 RCV001103745 RCV001105693 RCV001105695 RCV001107464 RCV001107466 RCV001103842 RCV001105787 RCV001108710 RCV001108711 RCV001103561 RCV001106742 RCV001108909 RCV001103746 RCV001103749 RCV001105692 RCV001105696 RCV001106817 RCV001106819 RCV001107462 RCV001103839 RCV001105784 RCV001105785 RCV001105789 RCV001106905 RCV001105395 RCV001106536 RCV001108799 RCV001108800 RCV001103649 RCV001105590 RCV001106740 RCV001108908 RCV001103743 RCV001103744 RCV001106815 RCV001106818 RCV001103837 RCV001105786 RCV001106902 RCV001108715 RCV001106644 RCV001105481 RCV001103559 RCV001106642 RCV001105396 RCV001106535 RCV001105478 RCV001106647 RCV001108798 RCV001105587 RCV001105589 RCV001105591 RCV001105592 RCV001105593 RCV001106738 RCV001108904 RCV001108906 RCV001108907 RCV001103748 RCV001105689 RCV001105690 RCV001106816 RCV001106820 RCV001107463 RCV001107465 RCV001107467 RCV001107468 RCV001103838 RCV001103840 RCV001103843 RCV001105790 RCV001106898 RCV001106900 RCV001106903 RCV001106904 RCV001107569
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs142858990, rs140903276	RCV005892001 RCV005895582
Colon adenocarcinoma	Benign	rs202244923	RCV005870037
Gastric cancer	Benign; Likely benign	rs72105710	RCV005867887
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity	rs781027702, rs1852872996	RCV001254725 RCV001254726
Limb-girdle muscular dystrophy, recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs78899595, rs4312063, rs146983312, rs7481951, rs61746201, rs12792259, rs61879341, rs377549896, rs139344099, rs886042624, rs147121216, rs199888040, rs372056234, rs777607869, rs73479393 View all (81 more)	RCV000319437 RCV000334993 RCV000402200 RCV000386589 RCV000350360 RCV000267576 RCV000298067 RCV000358513 RCV000323094 RCV000344249 RCV000276909 RCV000343342 RCV000355429 RCV000401295 RCV000388397 RCV000296005 RCV000359668 RCV000374328 RCV000401139 RCV000320290 RCV000383233 RCV000268860 RCV000274768 RCV000371836 RCV000336911 RCV000398776 RCV000271531 RCV000259587 RCV000373886 RCV000263898 RCV000324754 RCV000383191 RCV000294747 RCV000362632 RCV000271617 RCV000370103 RCV000316635 RCV000285081 RCV000298271 RCV000324193 RCV000346507 RCV000408082 RCV000293264 RCV000380094 RCV000392994 RCV000285268 RCV000385083 RCV000297460 RCV000277268 RCV000332320 RCV000311843 RCV000348473 RCV000300547 RCV000301948 RCV000278344 RCV000400224 RCV000274272 RCV000288373 RCV000370241 RCV000329339 RCV000333099 RCV000268930 RCV000366171 RCV000285336 RCV000276766 RCV000359698 RCV000289586 RCV000400689 RCV000266762 RCV000389199 RCV000399631 RCV000303897 RCV000319655 RCV000396168 RCV000348396 RCV000320593 RCV000335762 RCV000396499 RCV000384837 RCV000299443 RCV000354295 RCV000319328 RCV000296657 RCV000407893 RCV000268464 RCV000388849 RCV000302012 RCV000379544 RCV000310666 RCV000402414 RCV000385777 RCV000281747 RCV000262206 RCV000313267 RCV000266692 RCV000293858
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs72105710	RCV005867886
Malignant tumor of esophagus	Benign; Likely benign	rs72105710	RCV005867885
Miyoshi myopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs78899595, rs4312063, rs146983312, rs7481951, rs61746201, rs12792259, rs61879341, rs377549896, rs139344099, rs886042624, rs147121216, rs199888040, rs372056234, rs777607869, rs73479393 View all (81 more)	RCV000371764 RCV000282244 RCV000304852 RCV000261985 RCV000398827 RCV000301651 RCV000359816 RCV000303740 RCV000279574 RCV000291597 RCV000329671 RCV000392580 RCV000265134 RCV000340589 RCV000345495 RCV000348538 RCV000271971 RCV000350049 RCV000312495 RCV000379605 RCV000328544 RCV000364161 RCV000329607 RCV000335600 RCV000282003 RCV000342858 RCV000312562 RCV000319254 RCV000284146 RCV000354043 RCV000265028 RCV000325872 RCV000396390 RCV000326548 RCV000328962 RCV000312981 RCV000277892 RCV000342286 RCV000355364 RCV000381124 RCV000289256 RCV000337912 RCV000389836 RCV000283292 RCV000367137 RCV000325902 RCV000290696 RCV000400199 RCV000367194 RCV000372853 RCV000371292 RCV000293528 RCV000355565 RCV000401485 RCV000335854 RCV000307568 RCV000364616 RCV000380583 RCV000259448 RCV000381547 RCV000270962 RCV000307649 RCV000307969 RCV000344966 RCV000299147 RCV000319028 RCV000379324 RCV000335659 RCV000361324 RCV000332393 RCV000339146 RCV000361227 RCV000377158 RCV000345643 RCV000310704 RCV000262981 RCV000278567 RCV000351135 RCV000288149 RCV000399095 RCV000313562 RCV000259365 RCV000351704 RCV000356978 RCV000323476 RCV000294702 RCV000401808 RCV000339228 RCV000400909 RCV000346894 RCV000293761 RCV000394680 RCV000373627 RCV000389925 RCV000377504 RCV000384740
Sarcoma	Likely benign; Benign	rs150221273, rs76657996, rs77546698	RCV005917636 RCV005915300 RCV005905478
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs140903276	RCV005895583
Uterine corpus endometrial carcinoma	Benign	rs77546698	RCV005905479

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atelosteogenesis type 2	Associate	28176803
Bone Diseases	Associate	27216912, 29175271
Bone Diseases Metabolic	Associate	29175271
Breech Presentation	Associate	25891276
Bundle Branch Block	Associate	33567613
Cardiomyopathy Hypertrophic	Associate	37510237
Cardiomyopathy Right Ventricular Dilated	Associate	33567613
Distal Myopathies	Associate	20692837, 37510237
Dysferlinopathy	Associate	21186264
Femoral Fractures	Associate	29175271
Femoral Fractures Distal	Associate	27541832
Fractures Bone	Associate	28176803, 29175271
Gigantiform Cementoma Familial	Associate	27216912
Glycogen Storage Disease Type II	Associate	31931849
Heart Diseases	Associate	26913919
Heart Failure	Associate	37510237
Hyperplasia	Associate	30235762
Jaw Fractures	Associate	27541832
Job Syndrome	Associate	24843231
Limb girdle muscular dystrophy type 2A	Associate	27911336
Limb girdle muscular dystrophy type 2B	Associate	20096397
Lymphedema Congenital Recessive	Associate	31931849
Miyoshi Muscular Dystrophy 3	Associate	20096397, 32925086
Miyoshi myopathy	Associate	20096397, 21186264, 24843231, 36352632, 37510237
Muscle Neoplasms	Associate	31395899
Muscle Weakness	Associate	20692837, 21186264, 31353849, 31395899, 32925086, 36352632
Muscular Diseases	Associate	24843231, 25891276, 31353849, 32925086, 35239206
Muscular Dystrophies	Associate	20096397, 20692837, 21186264, 23047743, 24843231, 27216912, 27911336, 36352632, 39457424
Muscular Dystrophies Limb Girdle	Associate	20096397, 21186264, 24843231, 25891276, 31353849, 31395899, 32925086, 35239206, 35563815, 36352632, 37688281
Muscular Dystrophy Limb Girdle Type 2L	Associate	20096397, 21186264, 22742934, 23169617, 24843231, 25864073, 30235762, 31395899
Myalgia	Associate	36352632
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	20096397
Neoplasm Metastasis	Associate	30429477
Neoplasms	Associate	27216912, 36157935
Neuromuscular Diseases	Associate	33567613
Odontoma	Associate	32925086
Osteogenesis imperfecta Levin type	Associate	23047743, 27068316, 27216912, 27541832, 28176803, 29175271, 30554457, 35758145
Osteomyelitis	Associate	28176803
Osteosclerosis	Associate	27541832
Post Acute COVID 19 Syndrome	Associate	37510237
Prostatic Neoplasms	Associate	32027096
Retinal Dysplasia	Associate	20096397
Rhabdomyolysis	Associate	25864073, 32978841
Schmid Fraccaro syndrome	Associate	26913919
Sclerosis	Associate	37510237
Stomach Neoplasms	Associate	36157935
Wasting Syndrome	Associate	20692837

ANO5 (anoctamin 5)