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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9907
Gene name	Adaptor related protein complex 5 subunit zeta 1
Gene symbol	AP5Z1
Synonyms (NCBI Gene)	KIAA0415SPG48zeta
Chromosome	7
Chromosome location	7p22.1
Summary	This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene redu

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs117659667	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs200957609	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs373919408	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397704705	GGAT>TGCTGTAAACTGTAACTGTAAA	Pathogenic	5 prime UTR variant, coding sequence variant, inframe indel, non coding transcript variant, stop gained
rs397704709	GGACCTGCCCTGCT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs748724870	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs751778396	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs756556933	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs761451474	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs775883752	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs988434253	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1554257381	->CTCT	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1562404571	GGCCACCCTCGGCCTGCCTGCA>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1562408256	AGTGCCTGGTGGAGGC>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant, non coding transcript variant
rs1562410566	->CCGA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583232513	G>A,T	Likely-pathogenic	Splice donor variant

220

Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT544594	hsa-miR-451b	PAR-CLIP	20371350
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT544591	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT544590	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT544589	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT544588	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT544587	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT544585	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT544584	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT544583	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT544580	hsa-miR-137	PAR-CLIP	20371350
MIRT544579	hsa-miR-548aw	PAR-CLIP	20371350
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT544577	hsa-miR-527	PAR-CLIP	20371350
MIRT569530	hsa-miR-6089	PAR-CLIP	20371350
MIRT569529	hsa-miR-6134	PAR-CLIP	20371350
MIRT569528	hsa-miR-744-5p	PAR-CLIP	20371350
MIRT569527	hsa-miR-3689d	PAR-CLIP	20371350
MIRT569526	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT569525	hsa-miR-4743-5p	PAR-CLIP	20371350
MIRT569524	hsa-miR-1908-5p	PAR-CLIP	20371350
MIRT569523	hsa-miR-663a	PAR-CLIP	20371350
MIRT569522	hsa-miR-6787-5p	PAR-CLIP	20371350
MIRT569521	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT569520	hsa-miR-6877-5p	PAR-CLIP	20371350
MIRT569519	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT569518	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT569517	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT544594	hsa-miR-451b	PAR-CLIP	20371350
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT544591	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT544590	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT544589	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT544588	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT544587	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT544585	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT544584	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT544583	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT544580	hsa-miR-137	PAR-CLIP	20371350
MIRT544579	hsa-miR-548aw	PAR-CLIP	20371350
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT544577	hsa-miR-527	PAR-CLIP	20371350
MIRT544594	hsa-miR-451b	PAR-CLIP	20371350
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT544591	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT544590	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT544589	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT544588	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT544587	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT544585	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT544584	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT544583	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT544580	hsa-miR-137	PAR-CLIP	20371350
MIRT544579	hsa-miR-548aw	PAR-CLIP	20371350
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT544577	hsa-miR-527	PAR-CLIP	20371350
MIRT544594	hsa-miR-451b	PAR-CLIP	21572407
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT544591	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT544590	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT544589	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT544588	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT544587	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT544585	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT544584	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT544583	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT544580	hsa-miR-137	PAR-CLIP	21572407
MIRT544579	hsa-miR-548aw	PAR-CLIP	21572407
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT544577	hsa-miR-527	PAR-CLIP	21572407
MIRT544594	hsa-miR-451b	PAR-CLIP	21572407
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT544591	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT544590	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT544589	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT544588	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT544587	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT544585	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT544584	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT544583	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT544580	hsa-miR-137	PAR-CLIP	21572407
MIRT544579	hsa-miR-548aw	PAR-CLIP	21572407
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT544577	hsa-miR-527	PAR-CLIP	21572407
MIRT529412	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT529411	hsa-miR-4691-3p	PAR-CLIP	22012620
MIRT529410	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT529409	hsa-miR-4530	PAR-CLIP	22012620
MIRT529408	hsa-miR-551a	PAR-CLIP	22012620
MIRT529407	hsa-miR-551b-3p	PAR-CLIP	22012620
MIRT544594	hsa-miR-451b	PAR-CLIP	20371350
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT544591	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT544590	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT544589	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT544588	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT544587	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT544585	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT544584	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT544583	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT544580	hsa-miR-137	PAR-CLIP	20371350
MIRT544579	hsa-miR-548aw	PAR-CLIP	20371350
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT544577	hsa-miR-527	PAR-CLIP	20371350
MIRT569530	hsa-miR-6089	PAR-CLIP	20371350
MIRT569529	hsa-miR-6134	PAR-CLIP	20371350
MIRT569528	hsa-miR-744-5p	PAR-CLIP	20371350
MIRT569527	hsa-miR-3689d	PAR-CLIP	20371350
MIRT569526	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT569525	hsa-miR-4743-5p	PAR-CLIP	20371350
MIRT569524	hsa-miR-1908-5p	PAR-CLIP	20371350
MIRT569523	hsa-miR-663a	PAR-CLIP	20371350
MIRT569522	hsa-miR-6787-5p	PAR-CLIP	20371350
MIRT569521	hsa-miR-6799-5p	PAR-CLIP	20371350
MIRT569520	hsa-miR-6877-5p	PAR-CLIP	20371350
MIRT569519	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT569518	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT569517	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT544594	hsa-miR-451b	PAR-CLIP	20371350
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT544591	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT544590	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT544589	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT544588	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT544587	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT544585	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT544584	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT544583	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT544580	hsa-miR-137	PAR-CLIP	20371350
MIRT544579	hsa-miR-548aw	PAR-CLIP	20371350
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT544577	hsa-miR-527	PAR-CLIP	20371350
MIRT544594	hsa-miR-451b	PAR-CLIP	20371350
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT544591	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT544590	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT544589	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT544588	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT544587	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT544585	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT544584	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT544583	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT544580	hsa-miR-137	PAR-CLIP	20371350
MIRT544579	hsa-miR-548aw	PAR-CLIP	20371350
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT544577	hsa-miR-527	PAR-CLIP	20371350
MIRT544594	hsa-miR-451b	PAR-CLIP	21572407
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT544591	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT544590	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT544589	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT544588	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT544587	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT544585	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT544584	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT544583	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT544580	hsa-miR-137	PAR-CLIP	21572407
MIRT544579	hsa-miR-548aw	PAR-CLIP	21572407
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT544577	hsa-miR-527	PAR-CLIP	21572407
MIRT544594	hsa-miR-451b	PAR-CLIP	21572407
MIRT544593	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT544592	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT544591	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT544590	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT544589	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT544588	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT544586	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT544587	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT544585	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT544584	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT544583	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT544582	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT544581	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT544580	hsa-miR-137	PAR-CLIP	21572407
MIRT544579	hsa-miR-548aw	PAR-CLIP	21572407
MIRT544578	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT544577	hsa-miR-527	PAR-CLIP	21572407
MIRT529412	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT529411	hsa-miR-4691-3p	PAR-CLIP	22012620
MIRT529410	hsa-miR-140-3p	PAR-CLIP	22012620
MIRT529409	hsa-miR-4530	PAR-CLIP	22012620
MIRT529408	hsa-miR-551a	PAR-CLIP	22012620
MIRT529407	hsa-miR-551b-3p	PAR-CLIP	22012620

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	20613862
GO:0005515	Function	Protein binding	IPI	20613862, 32296183
GO:0005634	Component	Nucleus	IDA	20613862
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	20613862
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005770	Component	Late endosome	NAS	22022230
GO:0006281	Process	DNA repair	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007030	Process	Golgi organization	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	22022230
GO:0016197	Process	Endosomal transport	IMP	22022230
GO:0016607	Component	Nuclear speck	IDA
GO:0030119	Component	AP-type membrane coat adaptor complex	NAS	22022230
GO:0034499	Process	Late endosome to Golgi transport	IEA
GO:0044599	Component	AP-5 adaptor complex	IEA
GO:0044599	Component	AP-5 adaptor complex	NAS	22022230
GO:0061564	Process	Axon development	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IEA

MIM	HGNC	e!Ensembl
613653	22197	ENSG00000242802

O43299

Protein name

AP-5 complex subunit zeta-1 (Adaptor-related protein complex 5 zeta subunit) (Zeta5)

Protein function

As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. {ECO:0000

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14764	SPG48	320 → 437	AP-5 complex subunit, vesicle trafficking	Family

Sequence

MFSAGAESLLHQAREIQDEELKKFCSRICKLLQAEDLGPDTLDSLQRLFLIISATKYSRR
LEKTCVDLLQATLGLPACPEQLQVLCAAILREMSPSDSLSLAWDHTQNSRQLSLVASVLL
AQGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKVVVLSPGTLQEDQATLLSKRL
VDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNV
QAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEY
CQRLIEQSNRRALRKGDSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGD
PASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRIPVEQFHSPMLAFEFIQFCRDNLHL
FSGHLSTLRLSFPNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCLTAVL
DLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPKASGATERLAPLHQLL
QPMAGCARVAQCAQAVPTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGV
HSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRASLVTSVVWAIGEYLSVTYDR
RCTVEQINKFFEALEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRAS
LLLSKMRTLAHSPATSSTHSEEGAEAIRTRATELLTLLKMPSVAQFVLTPSTEVCSPRYH
RDANTALPLALRTVSRLVEREAGLMPG

Sequence length

807

Interactions

View interactions

1068

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs1342590804, rs767325342, rs2115103191, rs373919408, rs756556933, rs762066700	RCV001848317 RCV001848333 RCV001848334 RCV001848739 RCV001849048 RCV001847197
Hereditary spastic paraplegia 48	Likely pathogenic; Pathogenic	rs1186699852, rs774738874, rs989538601, rs1233553130, rs2115129514, rs2115114032, rs765332596, rs397704705, rs397704709, rs1198188652, rs1364005933, rs2534048198, rs1562414986, rs779269348, rs1222774799 View all (26 more)	RCV001331909 RCV001335677 RCV002469403 RCV001784677 RCV001962126 RCV001984185 RCV001956257 RCV000000012 RCV000000013 RCV003083686 RCV002654326 RCV002812154 RCV002891008 RCV003598146 RCV003233449 RCV003496538 RCV003599790 RCV003599800 RCV003597546 RCV003838478 RCV003854531 RCV004547247 RCV000416330 RCV000416347 RCV000416332 RCV001857894 RCV000701450 RCV000686651 RCV000687280 RCV000721923 RCV000800447 RCV000805942 RCV002549762 RCV001785749 RCV003769417 RCV001220110 RCV001251146 RCV001391431 RCV001391432 RCV001391433 RCV001391434
Macular dystrophy with or without extraocular features	Likely pathogenic; Pathogenic	rs397704705, rs778457903, rs748724870, rs762066700, rs376075583	RCV005255549 RCV005255585 RCV005255637 RCV005255665 RCV005255671
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1057519342, rs1562408256, rs376075583	RCV004816651 RCV004818041 RCV004814023
Uterine corpus endometrial carcinoma	Likely pathogenic	rs767325342	RCV005922793

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs11772411	RCV005887943
AP5Z1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs201677317, rs374167435, rs200224845, rs374673755, rs563984280, rs371998214, rs191971593, rs572271008, rs368571200, rs555588759, rs142983676, rs374673921, rs113014863, rs775883752, rs200280538 View all (10 more)	RCV003938666 RCV003966045 RCV004756308 RCV003958867 RCV003970924 RCV003943510 RCV003929988 RCV003967657 RCV003907888 RCV003429051 RCV003922600 RCV003902400 RCV003922601 RCV003932487 RCV003970056 RCV003981745 RCV003977139 RCV003909848 RCV003951667 RCV003928103 RCV003928350 RCV003938273 RCV003908254 RCV004756183 RCV004756189
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs80144866, rs201687417	RCV005919542 RCV005899217
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Conflicting classifications of pathogenicity	rs11772411, rs186003800	RCV005887950 RCV005899507
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs191971593, rs201687417	RCV005895337 RCV005899218
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs191971593	RCV005895334
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	rs201687417, rs562874262	RCV005899216 RCV005899220
Familial pancreatic carcinoma	Benign	rs11772411	RCV005887944
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	rs746540526, rs200617745	RCV005926379 RCV005899221
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs11772411, rs191971593	RCV005887940 RCV005895335
High myopia	Uncertain significance	rs201862383	RCV000785695
Lung cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs191971593, rs772392202	RCV005895343 RCV005909030
Lymphoma	Benign	rs11772411	RCV005887946
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	rs11772411, rs191971593	RCV005887945 RCV005895338
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs11772411, rs191971593	RCV005887941 RCV005895336
Melanoma	Conflicting classifications of pathogenicity	rs191971593	RCV005895342
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	rs80144866, rs11772411, rs370300896	RCV005919541 RCV005887942 RCV005901632
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs752688603, rs373671779	RCV004818054 RCV004818067
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs766449429, rs191971593, rs189898090	RCV005928355 RCV005895339 RCV005899223
Pancreatic adenocarcinoma	Uncertain significance	rs555588759	RCV005932787
Sarcoma	Conflicting classifications of pathogenicity	rs201687417	RCV005899219
Spastic paraplegia	Benign	rs186277796	RCV000850330
Spastic Paraplegia, Recessive	Likely benign; Uncertain significance	rs374967757, rs886062367, rs886062368, rs558006465	RCV000269050 RCV000287906 RCV000335025 RCV000281239
Thymoma	Benign; Conflicting classifications of pathogenicity	rs11772411, rs191971593	RCV005887948 RCV005895340
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	rs11772411, rs191971593	RCV005887949 RCV005895341
Uterine carcinosarcoma	Benign; Likely benign	rs80144866, rs11772411, rs73305394	RCV005919543 RCV005887947 RCV005899222

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Basal Cell Nevus Syndrome	Associate	29081410
Cognition Disorders	Associate	26085577
Macular Degeneration	Associate	40081374
Mitochondrial Diseases	Associate	29726929
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	29726929
Nervous System Diseases	Associate	26085577
Orofacial Cleft 1	Associate	28603561
Paraplegia	Associate	26085577
Parkinson Disease Secondary	Associate	26085577
Refsum Disease Infantile	Associate	40081374
Spastic Paraplegia Hereditary	Associate	20613862, 26085577, 29726929, 35026838

AP5Z1 (adaptor related protein complex 5 subunit zeta 1)