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	5189
Gene name	Peroxisomal biogenesis factor 1
Gene symbol	PEX1
Synonyms (NCBI Gene)	HMLR1PBD1APBD1BZWSZWS1
Chromosome	7
Chromosome location	7q21.2
Summary	This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61750406	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs61750409	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs61750412	TG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs61750414	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs61750415	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs61750417	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs61750418	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs61750420	C>T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs61750422	G>A,C,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, synonymous variant, coding sequence variant
rs61750423	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs112688556	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs121434455	A>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs139919229	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs141764012	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs144942544	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs145153467	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs149806989	G>A,C	Uncertain-significance, pathogenic, likely-pathogenic	Upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs150667796	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs151041559	G>C	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs199647157	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs199716270	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201415996	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs201719745	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267608176	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs267608178	TTATC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs368714078	C>G,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs370483961	C>G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs371890000	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs398123408	->TCCACACTG	Pathogenic, likely-pathogenic	Non coding transcript variant, inframe insertion, coding sequence variant, intron variant
rs398123409	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs565049190	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs749067142	TT>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs751829426	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs754983126	C>A,T	Likely-pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant, missense variant
rs756876301	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs757668497	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs762852144	C>A,T	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs766947924	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs778871894	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786204544	GTTTG>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs786204606	TG>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs786204638	AG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs786204743	GA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs786205655	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786205656	CTGA>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs863225084	A>C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs866144313	C>A,T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, splice donor variant, upstream transcript variant
rs886037783	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886043479	T>-	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1028247729	C>A,G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1057517463	->C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517464	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs1057517465	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517468	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517469	C>T	Likely-pathogenic	Splice donor variant
rs1057517470	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517478	C>-	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1057517479	C>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1057517485	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517486	->ATGGCTG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1057517487	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517488	CT>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517489	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517490	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs1057517497	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517499	TAAAG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517500	T>C,G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1057517503	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517505	->TATA	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe indel, non coding transcript variant
rs1057517506	->G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517520	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517522	A>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517529	TT>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1256376226	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1398892633	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1408895107	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs1434174453	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs1478905473	A>C,G	Likely-pathogenic	Intron variant, splice donor variant
rs1554369227	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554369234	T>C	Likely-pathogenic	Splice acceptor variant
rs1554370868	->T,TT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554372074	AAGCCGCTGGCTCTGCACCGCATCAGGACTGTGCTCATGTTCCGGGACAGCAGGCAGTCCAGCAATGAGGTCAAGGTCATCCAGCAGGACAACAGATGGCTGCATCCACACTGCCTCTGAGAAAGCCACCTCTAGGGTTTTTTGTATGTTTTCAAGCCT>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, inframe deletion
rs1554372180	T>-,TT	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554372561	->CA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554372756	CTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGCC>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, initiator codon variant, inframe deletion, non coding transcript variant, 5 prime UTR variant
rs1554373578	A>G	Likely-pathogenic	Splice donor variant
rs1554373787	A>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554373801	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1554375511	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant
rs1554375599	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554375661	C>G,T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554376597	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1562857198	A>G	Likely-pathogenic	Splice donor variant
rs1562857871	C>A	Pathogenic	Splice donor variant
rs1585224312	A>G	Likely-pathogenic	Splice donor variant
rs1585231093	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1585238595	->C	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1585244586	C>T	Pathogenic	Splice donor variant
rs1585248089	A>C	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1585254187	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1585255490	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1585260993	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046918	hsa-miR-221-3p	CLASH	23622248
MIRT1225487	hsa-miR-3653	CLIP-seq
MIRT1225488	hsa-miR-3658	CLIP-seq
MIRT1225489	hsa-miR-376a	CLIP-seq
MIRT1225490	hsa-miR-376b	CLIP-seq
MIRT1225491	hsa-miR-4760-3p	CLIP-seq
MIRT1556802	hsa-miR-651	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	9588209, 16257970, 16854980, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	16854980
GO:0005737	Component	Cytoplasm	IDA	9588209
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	16854980
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	21362118
GO:0005778	Component	Peroxisomal membrane	IDA	11439091
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16854980
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IMP	11439091, 16854980
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	11439091
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IBA
GO:0016558	Process	Protein import into peroxisome matrix	IDA	21976670
GO:0016558	Process	Protein import into peroxisome matrix	IMP	9398847
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16314507, 16854980, 19208625, 21362118, 29884772
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	16854980
GO:0043335	Process	Protein unfolding	IBA
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0043335	Process	Protein unfolding	IDA	16854980, 29884772
GO:0044877	Function	Protein-containing complex binding	IDA	16854980
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0060152	Process	Microtubule-based peroxisome localization	IMP	16449325
GO:0060152	Process	Microtubule-based peroxisome localization	IMP	16449325
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0140036	Function	Ubiquitin-modified protein reader activity	IDA	19208625, 29884772
GO:0140318	Function	Protein transporter activity	IDA	16854980, 21362118, 29884772

MIM	HGNC	e!Ensembl
602136	8850	ENSG00000127980

O43933

Protein name

Peroxisomal ATPase PEX1 (EC 3.6.4.-) (Peroxin-1) (Peroxisome biogenesis disorder protein 1) (Peroxisome biogenesis factor 1)

Protein function

Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:11439091, PubMed:16314507, PubMed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09263	PEX-2N	17 → 98	Peroxisome biogenesis factor 1, N-terminal	Domain
PF09262	PEX-1N	104 → 179	Peroxisome biogenesis factor 1, N-terminal	Domain
PF00004	AAA	595 → 733	ATPase family associated with various cellular activities (AAA)	Domain
PF00004	AAA	877 → 1007	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	1029 → 1077	AAA+ lid domain	Domain

Sequence

MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSW
VEGRHFSDQGENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILE
LHAVSLEQHLLDQIRIVFPKAIFPVWVDQQTYIFIQIVALIPAASYGRLETDTKLLIQPK
TRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQLQSNTVGITESNENESEIPVDSS
SVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKVVPLDNIFRVCKSQPPSIYNA
SATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQNVLSPEKEKQ
MSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRK
RLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDISEEDIKTVFYSWLQQSTTTMLPL
VISEEEFIKLETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQKTTIQVLLDPMVKEEN
SEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGG
KGSGKSTLAKAICKEAFDKLDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVL
LDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFISMGSLVALIATSQSQQSLHP
LLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFV
ARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWD
KIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRM
NFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRV
VNQLLTQLDGVEGLQGVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVL
SDSLPLADDVDLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQDGSSSSDSDLS
LSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGN
GTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADI
SIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESF
QNPKRRKNQSGTMFRPGQKVTLA

Sequence length

1283

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Peroxisomal protein import

2757

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Pathogenic	rs61750422	RCV001814132
Heimler syndrome 1	Likely pathogenic; Pathogenic	rs267608181, rs1459743428, rs1791439311, rs2116132444, rs1306607552, rs2116181485, rs1403870448, rs1164941642, rs866144313, rs1792878019, rs1275822594, rs1793398751, rs1791174009, rs1463323645, rs1467651370 View all (154 more)	RCV003473904 RCV003473940 RCV003473928 RCV003473983 RCV003474010 RCV004574491 RCV003475090 RCV003475091 RCV003475275 RCV005031959 RCV003475227 RCV002497861 RCV002497867 RCV003475206 RCV003475231 RCV003475247 RCV003475156 RCV003475157 RCV003475240 RCV003475234 RCV005042798 RCV005032237 RCV003475336 RCV003475337 RCV003474909 RCV003474911 RCV003474896 RCV003474914 RCV003474907 RCV003474899 RCV003474901 RCV003474910 RCV003474917 RCV003474913 RCV003474903 RCV003474902 RCV004567376 RCV003475511 RCV003475396 RCV003475395 RCV004571203 RCV000477843 RCV004571202 RCV004571247 RCV003475459 RCV000201302 RCV000201308 RCV000201292 RCV005034580 RCV003475474 RCV003475482 RCV000661947 RCV000763597 RCV000201307 RCV000240787 RCV000240738 RCV003475530 RCV003475860 RCV003475913 RCV003476736 RCV003476737 RCV003476738 RCV003476739 RCV003476740 RCV003476741 RCV003476742 RCV003476743 RCV003476744 RCV003476745 RCV003476746 RCV003476747 RCV003476748 RCV003476749 RCV003476750 RCV003476751 RCV003476752 RCV003476753 RCV003476754 RCV003476755 RCV003476756 RCV003476757 RCV003476758 RCV003476759 RCV003476760 RCV003476761 RCV003476762 RCV003476763 RCV003476764 RCV003476765 RCV003476766 RCV003476767 RCV003476768 RCV003476769 RCV003476770 RCV003476771 RCV003476772 RCV003476773 RCV003476774 RCV003476775 RCV003476776 RCV003476777 RCV003476778 RCV003476779 RCV005036889 RCV005047742 RCV005036942 RCV004574486 RCV004574487 RCV004574488 RCV004574489 RCV004574490 RCV004574492 RCV004574493 RCV004574494 RCV004574495 RCV004574496 RCV004574497 RCV004574498 RCV003475977 RCV003475989 RCV003475988 RCV003475992 RCV000409154 RCV003475982 RCV003475980 RCV003475983 RCV003475984 RCV003475978 RCV004567891 RCV003475985 RCV003475979 RCV003475975 RCV004567894 RCV003475990 RCV005033922 RCV002488843 RCV002502434 RCV005044618 RCV005033925 RCV005033924 RCV000984291 RCV005034279 RCV003472154 RCV005046878 RCV002499189 RCV003472166 RCV003472081 RCV005034273 RCV003472097 RCV003472179 RCV003472072 RCV003472144 RCV004568532 RCV003472062 RCV002477500 RCV003472182 RCV003472246 RCV003472259 RCV003472260 RCV005046985 RCV003472313 RCV003472357 RCV002497325 RCV003473550 RCV004569849 RCV003473556 RCV003473610 RCV003473691 RCV004570161 RCV003473733 RCV003473732 RCV004570441 RCV003474678
Leber congenital amaurosis	Pathogenic	rs61750420	RCV000022416
Optic atrophy	Pathogenic	rs61750415	RCV004814857
Peroxisomal disorder	Pathogenic	rs61750420	RCV000791271
Peroxisome biogenesis disorder	Pathogenic; Likely pathogenic	rs61750404, rs1585260993, rs1793398751, rs2116095487, rs2116298327, rs769836601, rs267608180, rs267608179, rs61750426, rs61750423, rs61750414, rs61750418, rs786204606, rs749067142, rs786204544 View all (26 more)	RCV001420758 RCV001420907 RCV002509727 RCV002266282 RCV002266283 RCV001420908 RCV002307427 RCV001194281 RCV000588350 RCV001193614 RCV001201267 RCV002265653 RCV001175576 RCV001194278 RCV002271442 RCV001526999 RCV000007946 RCV000500705 RCV003226251 RCV003123390 RCV001260325 RCV003479817 RCV003993945 RCV001805033 RCV001194280 RCV005632389 RCV000780585 RCV001174676 RCV000590014 RCV001293548 RCV001193608 RCV006268929 RCV001175577 RCV000780584 RCV000780587 RCV001796215 RCV001193610 RCV004782624 RCV001193612 RCV001194279 RCV001193609 RCV001260427
Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic; Pathogenic	rs1791439311, rs1306607552, rs2116205361, rs2116175944, rs2116220949, rs866144313, rs1792878019, rs1793398751, rs1791174009, rs2116245323, rs2116077430, rs2484687452, rs2484661854, rs2484637066, rs140990231 View all (166 more)	RCV003984857 RCV001580756 RCV001580757 RCV001580758 RCV001844385 RCV002486589 RCV005031959 RCV002497861 RCV002497867 RCV002272540 RCV006249777 RCV002306471 RCV002306500 RCV002306512 RCV002306633 RCV002306816 RCV002309701 RCV002309709 RCV002309712 RCV002309855 RCV002309866 RCV002309973 RCV002308004 RCV002308019 RCV002308078 RCV002308097 RCV002308108 RCV002308145 RCV002308149 RCV002308157 RCV002308160 RCV002308312 RCV002308336 RCV002308364 RCV002309259 RCV002309516 RCV002306850 RCV002306888 RCV002306952 RCV002307046 RCV002307099 RCV002307108 RCV002307139 RCV002307142 RCV002307236 RCV002307305 RCV002307331 RCV002310093 RCV002310100 RCV002310133 RCV002310139 RCV002310198 RCV002310227 RCV002310229 RCV002310265 RCV002310278 RCV002310301 RCV002310437 RCV002310464 RCV002310558 RCV002308443 RCV000169360 RCV000169385 RCV001810430 RCV000169435 RCV000169346 RCV000169203 RCV000169227 RCV000169363 RCV000169592 RCV000169419 RCV000169270 RCV000169257 RCV000169518 RCV000185568 RCV005034411 RCV002500626 RCV000633316 RCV005034580 RCV000032927 RCV000007949 RCV000007951 RCV000007953 RCV001004317 RCV003223550 RCV003223551 RCV003227552 RCV001004321 RCV001004314 RCV005047599 RCV005047600 RCV005047601 RCV005036889 RCV005047742 RCV005036942 RCV000409527 RCV000411784 RCV000409356 RCV000410422 RCV000411432 RCV000412213 RCV000411605 RCV000410455 RCV000409040 RCV000409714 RCV000410900 RCV000411881 RCV000409499 RCV000410634 RCV000412134 RCV000409983 RCV000412254 RCV000410663 RCV000412147 RCV000410544 RCV000410765 RCV000411702 RCV000410364 RCV000411209 RCV000411742 RCV000412445 RCV000411168 RCV000412085 RCV000409164 RCV000411495 RCV000411232 RCV000409070 RCV000409956 RCV000410891 RCV000411910 RCV000412173 RCV000409170 RCV000409764 RCV000411341 RCV000411284 RCV000410653 RCV000412294 RCV000411873 RCV000578315 RCV000578442 RCV000818703 RCV000671761 RCV000674724 RCV000674644 RCV000674547 RCV000673364 RCV000671278 RCV000668226 RCV000674474 RCV000674254 RCV000670781 RCV000673518 RCV000668478 RCV000666769 RCV000673928 RCV000668286 RCV000668401 RCV000675019 RCV000673977 RCV000665705 RCV000674942 RCV000666658 RCV000673475 RCV000667385 RCV000673696 RCV000672142 RCV000669833 RCV000664531 RCV000666081 RCV000665963 RCV000673127 RCV000673458 RCV000670124 RCV000668706 RCV000680063 RCV001580539 RCV000698530 RCV005036036 RCV001004315 RCV005046985 RCV000798684 RCV001004522 RCV001004313 RCV001004325 RCV001004517 RCV001004519 RCV001004521 RCV001004524 RCV001004525 RCV001030045 RCV001030044 RCV005047283 RCV000672527
Peroxisome biogenesis disorder 1B	Likely pathogenic; Pathogenic	rs866144313, rs1792878019, rs1793398751, rs1791174009, rs2484687452, rs2484661854, rs2484637066, rs140990231, rs2484703261, rs2484687766, rs2484620697, rs2484673641, rs2484664984, rs2484661619, rs2484676279 View all (127 more)	RCV002486589 RCV005031959 RCV002497861 RCV002497867 RCV002306471 RCV002306500 RCV002306512 RCV002306633 RCV002306816 RCV002309701 RCV002309709 RCV002309712 RCV002309855 RCV002309866 RCV002309973 RCV002308004 RCV002308019 RCV002308078 RCV002308097 RCV002308108 RCV002308145 RCV002308149 RCV002308157 RCV002308160 RCV002308312 RCV002308336 RCV002308364 RCV002309259 RCV002309516 RCV002306850 RCV002306888 RCV002306952 RCV002307046 RCV002307099 RCV002307108 RCV002307139 RCV002307142 RCV002307236 RCV002307305 RCV002307331 RCV002310093 RCV002310100 RCV002310133 RCV002310139 RCV002310198 RCV002310227 RCV002310229 RCV002310265 RCV002310278 RCV002310301 RCV002310437 RCV002310464 RCV002310558 RCV002308443 RCV001004312 RCV005031695 RCV001332473 RCV001004318 RCV005031690 RCV001004323 RCV001004516 RCV005031697 RCV001004520 RCV005031693 RCV000185569 RCV005034411 RCV002500626 RCV001004518 RCV005034580 RCV000345695 RCV000763597 RCV000850579 RCV001004317 RCV001004321 RCV000317622 RCV001004314 RCV005047599 RCV005047600 RCV005047601 RCV005036889 RCV005047742 RCV005036942 RCV000411053 RCV000409825 RCV000410489 RCV000411933 RCV000409017 RCV000410270 RCV000411996 RCV000410568 RCV000410777 RCV000412482 RCV000409416 RCV000411020 RCV000411755 RCV000410160 RCV000411506 RCV000410249 RCV000411651 RCV000410165 RCV000411204 RCV000412291 RCV000409232 RCV000411848 RCV000409269 RCV000409309 RCV000410009 RCV000412257 RCV000409648 RCV000410303 RCV000409071 RCV000409234 RCV000410602 RCV000411093 RCV000411994 RCV000409397 RCV000410137 RCV000410312 RCV000410357 RCV000409324 RCV000412347 RCV000411721 RCV000410262 RCV000409502 RCV000984292 RCV005034279 RCV003338727 RCV002499189 RCV005034275 RCV001004316 RCV005034273 RCV005901504 RCV002477500 RCV004796289 RCV005036036 RCV001004315 RCV005046985 RCV001004522 RCV001004313 RCV001004325 RCV001004517 RCV001004519 RCV001004521 RCV001004524 RCV001004525 RCV005047283
Peroxisome biogenesis disorder due to PEX1 defect	Likely pathogenic; Pathogenic	rs1403870448, rs61750426, rs61750420, rs778871894	RCV003225979 RCV002470783 RCV004786245 RCV002272339
Peroxisome biogenesis disorder type 1A	Pathogenic	rs267608180, rs766020928	RCV001250202 RCV001250203
PEX1-related disorder	Likely pathogenic; Pathogenic	rs1793398751, rs61750423, rs749067142, rs786204544, rs756876301, rs61750420, rs61750415, rs2484613304, rs1057517467, rs759183382, rs1057517518, rs762324548, rs267608176, rs61750409, rs1232449804	RCV004731210 RCV003937525 RCV005230030 RCV003947447 RCV003422106 RCV003398462 RCV003415676 RCV003416724 RCV004577330 RCV004752886 RCV003409567 RCV003418086 RCV003418087 RCV003420172 RCV003983849
Retinal dystrophy	Pathogenic; Likely pathogenic	rs61750423, rs370483961, rs61750420, rs61750415, rs1562846257	RCV004815259 RCV001075087 RCV001074120 RCV001073754 RCV001075088
See cases	Pathogenic	rs61750422	RCV002252071
Zellweger spectrum disorders	Likely pathogenic; Pathogenic	rs2116039871, rs267608181, rs771586413, rs1459743428, rs2116059303, rs2116059954, rs2116077400, rs1791439311, rs2116110975, rs2116132444, rs2116145117, rs2116209376, rs61750404, rs1585260993, rs2116156265 View all (204 more)	RCV001379471 RCV001377621 RCV001379083 RCV001382765 RCV001390901 RCV001380651 RCV001381979 RCV001380782 RCV001383329 RCV001387869 RCV001382123 RCV001380151 RCV001831471 RCV001859336 RCV001885166 RCV001885188 RCV003759075 RCV002034604 RCV001919330 RCV001997341 RCV001897674 RCV002017918 RCV002017935 RCV001941647 RCV001999185 RCV001953048 RCV001970110 RCV001901719 RCV001901725 RCV001996664 RCV001887181 RCV001997550 RCV001978162 RCV001892269 RCV001926506 RCV002007262 RCV002037863 RCV002035417 RCV002030082 RCV001949952 RCV001946843 RCV001956445 RCV001909010 RCV001909016 RCV001949325 RCV001949339 RCV001949361 RCV001932957 RCV001953622 RCV001902111 RCV001948822 RCV001998051 RCV003758700 RCV003594184 RCV003759100 RCV001201345 RCV001215871 RCV002228604 RCV001201389 RCV001376586 RCV001376602 RCV001220088 RCV001243745 RCV003593926 RCV002516532 RCV001201363 RCV001850395 RCV003593925 RCV002515240 RCV001852071 RCV002588310 RCV002598809 RCV002586445 RCV002583240 RCV002685400 RCV002659070 RCV002667291 RCV002794871 RCV002791984 RCV002838808 RCV002834478 RCV002838198 RCV002866194 RCV002857840 RCV002881032 RCV002917912 RCV002912654 RCV002899352 RCV002996430 RCV001377625 RCV001376605 RCV003010320 RCV003018639 RCV003014370 RCV003029094 RCV003030631 RCV003047646 RCV003046737 RCV003044847 RCV001376560 RCV001248383 RCV001376645 RCV002229187 RCV001383603 RCV003759773 RCV001376587 RCV001855178 RCV001214049 RCV003759874 RCV003759875 RCV003759876 RCV003759877 RCV003594692 RCV003759878 RCV003594693 RCV003594694 RCV005100305 RCV003594891 RCV003594838 RCV003594789 RCV003594957 RCV003595231 RCV003595189 RCV003593619 RCV003593499 RCV003593370 RCV003593732 RCV003594538 RCV003594416 RCV003760858 RCV003760849 RCV003760871 RCV003758239 RCV003758351 RCV003758472 RCV003758253 RCV003758368 RCV003758433 RCV003758359 RCV003759188 RCV003758640 RCV003758675 RCV003759222 RCV003759252 RCV003759558 RCV003759626 RCV003760242 RCV003825119 RCV003824134 RCV003874237 RCV003870490 RCV001865276 RCV001209618 RCV001376544 RCV001379134 RCV001376561 RCV001201668 RCV001861400 RCV003758761 RCV001213658 RCV005055950 RCV002523885 RCV001376588 RCV002230733 RCV001833495 RCV002523887 RCV002523889 RCV001212702 RCV002523884 RCV001865275 RCV001210281 RCV001383774 RCV001376604 RCV001861401 RCV002230732 RCV001232745 RCV001384497 RCV002232225 RCV000633315 RCV003758907 RCV001377626 RCV001201378 RCV001377622 RCV001214601 RCV002530739 RCV003594017 RCV001861851 RCV001868206 RCV001868283 RCV003767954 RCV001242973 RCV001277055 RCV003594015 RCV001229220 RCV001855537 RCV001384961 RCV000704649 RCV002233664 RCV001066600 RCV002535039 RCV002535064 RCV000798670 RCV001377624 RCV005614447 RCV002235449 RCV002234193 RCV001376612 RCV001830708 RCV001869414 RCV002551711 RCV001382274 RCV001378209 RCV001832328 RCV003594089 RCV002552037 RCV001067461 RCV001047697 RCV001047573 RCV001036555 RCV001380781 RCV001833751 RCV001377623 RCV001211999 RCV001206563 RCV001207439 RCV001226834 RCV001246328 RCV001246001 RCV001239730 RCV001854392

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs111535201	RCV005886236
Adrenocortical carcinoma, hereditary	Uncertain significance	rs758085238	RCV005913603
Cervical cancer	Benign; Likely benign	rs111535201	RCV005886240
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs35892336, rs111535201	RCV005917041 RCV005886245
Familial cancer of breast	Benign	rs35892336	RCV005917032
Familial pancreatic carcinoma	Benign; Likely benign	rs35892336, rs111535201	RCV005917034 RCV005886242
Gastric cancer	Benign	rs150576000	RCV005888440
Global developmental delay	Uncertain significance	rs757305859	RCV001254896
Hepatocellular carcinoma	Uncertain significance; Benign; Likely benign	rs201727361, rs111535201	RCV005932314 RCV005886237
Lymphoma	Benign	rs35892336	RCV005917036
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	rs372455445, rs111535201	RCV005897269 RCV005886238
Microcephaly	Conflicting classifications of pathogenicity	rs144825021	RCV001252811
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs111535201	RCV005886239
Ovarian cancer	Benign; Likely benign	rs35892336, rs111535201	RCV005917033 RCV005886241
Ovarian serous cystadenocarcinoma	Benign	rs35892336	RCV005917037
Penile hypospadias	Uncertain significance	rs757305859	RCV001254896
PEX1-related Peroxisomal Biogenesis Disorder	Conflicting classifications of pathogenicity	rs760316851	RCV005645295
Polymicrogyria	Uncertain significance	rs757305859	RCV001254896
Sarcoma	Benign; Likely benign	rs35892336, rs111535201	RCV005917035 RCV005886243
Seizure	Uncertain significance	rs757305859	RCV001254896
Thymoma	Benign	rs35892336	RCV005917039
Uterine carcinosarcoma	Benign	rs35892336	RCV005917038
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs35892336, rs111535201	RCV005917040 RCV005886244
Uveal melanoma	Conflicting classifications of pathogenicity	rs375062546	RCV005899271
Very long chain fatty acid accumulation	Uncertain significance	rs757305859	RCV001254896

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amelogenesis Imperfecta	Associate	40466212
Anodontia	Associate	40466212
Arachnodactyly	Associate	40466212
Deafness enamel hypoplasia nail defects	Associate	26387595, 31831025, 40466212
Hearing Loss Sensorineural	Associate	40466212
Nails Malformed	Associate	40466212
Neurologic Manifestations	Associate	9671729
Obesity	Associate	28508493
Peroxisomal Disorders	Associate	20212125
Peroxisome biogenesis disorders	Associate	11389485, 16141001, 16257970, 19105186
Radiculopathy	Associate	40466212
Refsum Disease Infantile	Associate	11389485, 9671729
Retinal Dystrophies	Associate	31831025, 36293220
Retinitis Pigmentosa	Associate	40466212
Zellweger Syndrome	Associate	11389485, 16141001, 19105186, 20212125, 21846392, 26319495, 26387595, 27090541, 31628608, 33545634, 40112482, 9671729

PEX1 (peroxisomal biogenesis factor 1)