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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9907
Gene name Gene Name - the full gene name approved by the HGNC.	Adaptor related protein complex 5 subunit zeta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AP5Z1
Synonyms (NCBI Gene) Gene synonyms aliases	KIAA0415, SPG48, zeta
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary spastic paraplegia	Hereditary spastic paraplegia 48, Hereditary spastic paraplegia	rs1562413480, rs988434253, rs756556933, rs397704705, rs1562404571, rs397704709, rs1562410566, rs373919408, rs1583232513, rs1562408256, rs778457903, rs1057519342, rs751778396, rs748724870, rs1554257381	N/A
retinal dystrophy	Retinal dystrophy	rs1562408256, rs1057519342	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS
Spastic paraplegia	Spastic Paraplegia, Recessive	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)