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

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy with or without extraocular features	Likely pathogenic; Pathogenic	rs397704705, rs778457903, rs748724870, rs762066700, rs376075583	RCV005255549 RCV005255585 RCV005255637 RCV005255665 RCV005255671	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1057519342, rs1562408256, rs376075583	RCV004816651 RCV004818041 RCV004814023	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs767325342	RCV005922793	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AP5Z1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Recessive	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
alpha-Thalassemia	alpha Thalassemia	BEFREE	3756105, 7672089		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	3756105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	18003890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 48	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	29081410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	9267896		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	9267896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9121309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26085577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	18854088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	3942832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	20613862, 26085577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12727645, 12928398, 15749888, 17114503, 9802920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	40081374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29726929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18003890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	26085577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26085577		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	18003890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	28603561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	26085577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	26085577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	26085577		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	20613862		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	24833714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	24833714, 27606357		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	20613862, 26085577, 29726929, 35026838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	20613862, 22554690, 26085577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	18003890		★★★★★ ★☆☆☆☆ Found in Text Mining only

AP5Z1 (adaptor related protein complex 5 subunit zeta 1)