PEX10 (peroxisomal biogenesis factor 10)

Gene

• Entrez ID: 5192
• Gene name: Peroxisomal biogenesis factor 10
• Gene symbol: PEX10
• Synonyms (NCBI Gene): NALD, PBD6A, PBD6B, RNF69
• Chromosome: 1
• Chromosome location: 1p36.32
• Summary: This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61750434	G>A	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs61750435	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant
rs61752092	G>A,C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs61752093	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant
rs61752095	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs62641225	C>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs75377471	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs78620392	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs140133667	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs140340426	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs144264865	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, downstream transcript variant, missense variant
rs144440263	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs199934621	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs267608183	C>T	Pathogenic	Intron variant, splice donor variant
rs369965266	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs724159999	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs724160000	A>G	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs762783424	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs768893724	GCAGCCCCATGG>-	Likely-pathogenic	Inframe indel, coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, stop gained
rs769251149	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, stop gained
rs775772867	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant
rs797044762	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs867305222	C>T	Likely-pathogenic	Splice acceptor variant
rs869312935	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs878853044	A>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1325771720	TG>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant
rs1335685844	A>G,T	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1553231739	C>G,T	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1553231783	A>-	Likely-pathogenic	Downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553231787	TC>-	Likely-pathogenic	Downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553231820	C>-	Likely-pathogenic, pathogenic	Downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553231875	TC>-	Likely-pathogenic	Intron variant, downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553231888	CA>GAG	Likely-pathogenic	Intron variant, downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553231896	AG>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, 3 prime UTR variant
rs1553232077	C>-	Likely-pathogenic	Intron variant, splice donor variant
rs1557910651	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT490349	hsa-miR-4318	PAR-CLIP	23592263
MIRT490350	hsa-miR-3614-5p	PAR-CLIP	23592263
MIRT490348	hsa-miR-4494	PAR-CLIP	23592263
MIRT490347	hsa-miR-499b-5p	PAR-CLIP	23592263
MIRT490346	hsa-miR-4330	PAR-CLIP	23592263
MIRT490345	hsa-miR-7114-5p	PAR-CLIP	23592263
MIRT490343	hsa-miR-4320	PAR-CLIP	23592263
MIRT490344	hsa-miR-3138	PAR-CLIP	23592263
MIRT490342	hsa-miR-4800-5p	PAR-CLIP	23592263
MIRT490341	hsa-miR-4520-3p	PAR-CLIP	23592263
MIRT490340	hsa-miR-450b-3p	PAR-CLIP	23592263
MIRT490339	hsa-miR-769-3p	PAR-CLIP	23592263
MIRT490338	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT490337	hsa-miR-5089-5p	PAR-CLIP	23592263
MIRT490336	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT490349	hsa-miR-4318	PAR-CLIP	23592263
MIRT490350	hsa-miR-3614-5p	PAR-CLIP	23592263
MIRT490348	hsa-miR-4494	PAR-CLIP	23592263
MIRT490347	hsa-miR-499b-5p	PAR-CLIP	23592263
MIRT490346	hsa-miR-4330	PAR-CLIP	23592263
MIRT490345	hsa-miR-7114-5p	PAR-CLIP	23592263
MIRT490343	hsa-miR-4320	PAR-CLIP	23592263
MIRT490344	hsa-miR-3138	PAR-CLIP	23592263
MIRT490342	hsa-miR-4800-5p	PAR-CLIP	23592263
MIRT490341	hsa-miR-4520-3p	PAR-CLIP	23592263
MIRT490340	hsa-miR-450b-3p	PAR-CLIP	23592263
MIRT490339	hsa-miR-769-3p	PAR-CLIP	23592263
MIRT490338	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT490337	hsa-miR-5089-5p	PAR-CLIP	23592263
MIRT490336	hsa-miR-6513-5p	PAR-CLIP	23592263
MIRT1225307	hsa-miR-105	CLIP-seq
MIRT1225308	hsa-miR-1200	CLIP-seq
MIRT1225309	hsa-miR-1321	CLIP-seq
MIRT1225310	hsa-miR-150	CLIP-seq
MIRT1225311	hsa-miR-154	CLIP-seq
MIRT1225312	hsa-miR-1915	CLIP-seq
MIRT1225313	hsa-miR-2052	CLIP-seq
MIRT1225314	hsa-miR-2110	CLIP-seq
MIRT1225315	hsa-miR-2117	CLIP-seq
MIRT1225316	hsa-miR-3150a-3p	CLIP-seq
MIRT1225317	hsa-miR-3160-5p	CLIP-seq
MIRT1225318	hsa-miR-3162-5p	CLIP-seq
MIRT1225319	hsa-miR-3170	CLIP-seq
MIRT1225320	hsa-miR-3183	CLIP-seq
MIRT1225321	hsa-miR-3202	CLIP-seq
MIRT1225322	hsa-miR-326	CLIP-seq
MIRT1225323	hsa-miR-330-5p	CLIP-seq
MIRT1225324	hsa-miR-3672	CLIP-seq
MIRT1225325	hsa-miR-3937	CLIP-seq
MIRT1225326	hsa-miR-4251	CLIP-seq
MIRT1225327	hsa-miR-4260	CLIP-seq
MIRT1225328	hsa-miR-4261	CLIP-seq
MIRT1225329	hsa-miR-4271	CLIP-seq
MIRT1225330	hsa-miR-4273	CLIP-seq
MIRT1225331	hsa-miR-4314	CLIP-seq
MIRT1225332	hsa-miR-4324	CLIP-seq
MIRT1225333	hsa-miR-4328	CLIP-seq
MIRT1225334	hsa-miR-4329	CLIP-seq
MIRT1225335	hsa-miR-4446-3p	CLIP-seq
MIRT1225336	hsa-miR-4652-3p	CLIP-seq
MIRT1225337	hsa-miR-4656	CLIP-seq
MIRT1225338	hsa-miR-4666-5p	CLIP-seq
MIRT1225339	hsa-miR-4680-5p	CLIP-seq
MIRT1225340	hsa-miR-4685-5p	CLIP-seq
MIRT1225341	hsa-miR-4694-3p	CLIP-seq
MIRT1225342	hsa-miR-4713-5p	CLIP-seq
MIRT1225343	hsa-miR-4723-3p	CLIP-seq
MIRT1225344	hsa-miR-4725-3p	CLIP-seq
MIRT1225345	hsa-miR-4726-3p	CLIP-seq
MIRT1225346	hsa-miR-4728-5p	CLIP-seq
MIRT1225347	hsa-miR-4739	CLIP-seq
MIRT1225348	hsa-miR-4747-5p	CLIP-seq
MIRT1225349	hsa-miR-4749-3p	CLIP-seq
MIRT1225350	hsa-miR-4756-5p	CLIP-seq
MIRT1225351	hsa-miR-4768-5p	CLIP-seq
MIRT1225352	hsa-miR-4802-5p	CLIP-seq
MIRT1225353	hsa-miR-490-3p	CLIP-seq
MIRT1225354	hsa-miR-494	CLIP-seq
MIRT1225355	hsa-miR-500a	CLIP-seq
MIRT1225356	hsa-miR-518a-3p	CLIP-seq
MIRT1225357	hsa-miR-518b	CLIP-seq
MIRT1225358	hsa-miR-518c	CLIP-seq
MIRT1225359	hsa-miR-518d-3p	CLIP-seq
MIRT1225360	hsa-miR-518f	CLIP-seq
MIRT1225361	hsa-miR-532-3p	CLIP-seq
MIRT1225362	hsa-miR-539	CLIP-seq
MIRT1225363	hsa-miR-544b	CLIP-seq
MIRT1225364	hsa-miR-570	CLIP-seq
MIRT1225365	hsa-miR-600	CLIP-seq
MIRT1225366	hsa-miR-619	CLIP-seq
MIRT1225367	hsa-miR-657	CLIP-seq
MIRT1225368	hsa-miR-769-5p	CLIP-seq
MIRT1225369	hsa-miR-873	CLIP-seq
MIRT1225370	hsa-miR-875-3p	CLIP-seq
MIRT1225310	hsa-miR-150	CLIP-seq
MIRT1225312	hsa-miR-1915	CLIP-seq
MIRT1225315	hsa-miR-2117	CLIP-seq
MIRT1225330	hsa-miR-4273	CLIP-seq
MIRT1225336	hsa-miR-4652-3p	CLIP-seq
MIRT1225342	hsa-miR-4713-5p	CLIP-seq
MIRT1225345	hsa-miR-4726-3p	CLIP-seq
MIRT1225351	hsa-miR-4768-5p	CLIP-seq
MIRT1225361	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	24662292
GO:0000425	Process	Pexophagy	IDA	26344566, 27597759
GO:0005515	Function	Protein binding	IPI	10562279, 10837480
GO:0005777	Component	Peroxisome	IDA	9922452
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	9090384, 9922452, 12751901
GO:0005778	Component	Peroxisomal membrane	IDA	9700193
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0006513	Process	Protein monoubiquitination	IDA	27597759
GO:0006513	Process	Protein monoubiquitination	ISS	35768507
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	ISS	35768507
GO:0007031	Process	Peroxisome organization	IDA	9700193
GO:0007031	Process	Peroxisome organization	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	10862081
GO:0008320	Function	Protein transmembrane transporter activity	ISS	35768507
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	IDA	9683594
GO:0016558	Process	Protein import into peroxisome matrix	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IMP	10862081
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980, 19208625
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	24662292
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	35768507
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	IDA	26344566
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS	35768507
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS	35768507
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	24662292

Other IDs

• MIM: 602859
• HGNC: 8851
• e!Ensembl: ENSG00000157911

Protein

• UniProt ID: O60683
• Protein name: Peroxisome biogenesis factor 10 (EC 2.3.2.27) (Peroxin-10) (Peroxisomal biogenesis factor 10) (Peroxisome assembly protein 10) (RING finger protein 69)
• Protein function: E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotra
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04757	Pex2_Pex12	18 → 243	Pex2 / Pex12 amino terminal region	Family
  PF13920	zf-C3HC4_3	269 → 315		Domain

• Sequence:

  MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGL
  TTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQAD
  PDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVA
  WFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYRLLGVISLLHLVLSMGLQLYGFR
  QRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAW
  CSSKAECPLCREKFPPQKLIYLRHYR

• Sequence length: 326

Pathways

KEGG:

Peroxisome

Reactome:

E3 ubiquitin ligases ubiquitinate target proteins
Peroxisomal protein import

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Lymphoma	Pathogenic	rs267608183	RCV005887335	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder	Likely pathogenic; Pathogenic	rs2100429450, rs1557910161, rs724160002, rs61752092, rs267608183, rs61750434, rs61750435, rs878853044, rs2522256588, rs62641225, rs61752093, rs2522278322, rs369965266, rs62636524	RCV002271928 RCV002283435 RCV003155088 RCV001844050 RCV001174563 RCV002222345 RCV000781707 RCV006268683 RCV003123553 RCV003155147 RCV000590803 RCV004765848 RCV001290646 RCV001290599	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 6A (Zellweger)	Likely pathogenic; Pathogenic	rs770937339, rs531987102, rs1295555837, rs1384671249, rs2100429011, rs1553232917, rs1414973726, rs1557910161, rs724159999, rs724160000, rs724160002, rs61752092, rs749637005, rs2522280332, rs2522292110, rs2522260956, rs2522276946, rs2522275908, rs869312935, rs267608183, rs61750434, rs61750435, rs878853044, rs886041314, rs62641225, rs61752093, rs2522280632, rs2522278322, rs2522256772, rs1257198952, rs2522257720, rs773164888, rs1169822437, rs2522280016, rs571178917, rs2522277492, rs2522257319, rs1643028584, rs2522292002, rs61752096, rs2522277539, rs2522292254, rs2522278305, rs2522256568, rs2522256455, rs752506584, rs1357189926, rs369965266, rs62636524, rs768893724, rs1553231888, rs1553232077, rs1553232926, rs1553231820, rs1325771720, rs1553231875, rs1553231739, rs769251149, rs1335685844, rs1553231896, rs867305222, rs1553231783, rs1553231787, rs1557910651, rs1557910202	RCV004570798 RCV003475123 RCV003473942 RCV003473984 RCV003475128 RCV004571723 RCV002250185 RCV003475327 RCV003474798 RCV000675117 RCV000665679 RCV000677268 RCV002306503 RCV002306677 RCV002306705 RCV002309587 RCV002307891 RCV002309503 RCV003475416 RCV000007172 RCV000670577 RCV000007176 RCV003475051 RCV000666568 RCV003475892 RCV000411962 RCV003476786 RCV003476787 RCV003476788 RCV003476789 RCV003476790 RCV003476791 RCV003476792 RCV003476793 RCV003476794 RCV003476795 RCV003476780 RCV003476781 RCV003476782 RCV003476783 RCV003476784 RCV003476785 RCV004573231 RCV004573261 RCV004574499 RCV004574500 RCV004574501 RCV000410037 RCV003476216 RCV000673610 RCV000664674 RCV000668691 RCV000670331 RCV000670303 RCV000665115 RCV000667148 RCV000669958 RCV000673106 RCV000674714 RCV000669210 RCV000670741 RCV000672634 RCV000668368 RCV000671772 RCV000671093 RCV000668448 RCV000668740 RCV003472269 RCV000778225	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 6B	Likely pathogenic; Pathogenic	rs1553232917, rs724159999, rs724160000, rs724160002, rs61752092, rs749637005, rs2522280332, rs2522292110, rs2522260956, rs2522276946, rs2522275908, rs2522260588, rs267608183, rs61752095, rs61750434, rs61750435, rs886041314, rs61752093, rs369965266, rs62636524, rs768893724, rs1553231888, rs1553232077, rs1553232926, rs1553231820, rs1325771720, rs1553231875, rs1553231739, rs1414973726, rs769251149, rs1335685844, rs1553231896, rs867305222, rs1553231783, rs1553231787	RCV005006320 RCV000149809 RCV000149810 RCV000149812 RCV000149813 RCV002306503 RCV002306677 RCV002306705 RCV002309587 RCV002307891 RCV002309503 RCV002471396 RCV000983989 RCV000007173 RCV000007174 RCV000149808 RCV000666568 RCV000409050 RCV000411504 RCV000665998 RCV000673610 RCV000664674 RCV000668691 RCV000670331 RCV000670303 RCV000665115 RCV000667148 RCV000669958 RCV000673106 RCV000674714 RCV000669210 RCV000670741 RCV000672634 RCV000668368 RCV000671772 RCV000671093 RCV000668448 RCV000668740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder, complementation group 7	Likely pathogenic; Pathogenic	rs770937339, rs531987102, rs1295555837, rs2100423250, rs1643083325, rs2100428321, rs2100428385, rs2100429148, rs1384671249, rs2100419143, rs2100428583, rs1291325133, rs2100422652, rs2100428812, rs2100429011, rs2100422532, rs1553232917, rs1643027426, rs1643028060, rs886041314, rs724160000, rs724160002, rs61752092, rs749637005, rs869312935, rs867305222, rs1643015669, rs2522259655, rs1357189926, rs2522259217, rs2522260496, rs752180749, rs2522261938, rs2522276086, rs776590711, rs267608183, rs61750434, rs61750435, rs1643085902, rs878853044, rs2522256588, rs62641225, rs61752093, rs1257198952, rs571178917, rs2522277539, rs2522276966, rs2522280663, rs1393899190, rs748299996, rs2522292383, rs2522275393, rs2522256413, rs2522256932, rs2522280068, rs2522256235, rs138489241, rs1643006514, rs2522280479, rs2522278305, rs2522256568, rs2522292124, rs757974161, rs2522256455, rs369965266, rs62636524, rs768893724, rs1553231820, rs1325771720, rs1553231739, rs1414973726, rs1553231896, rs1553231787, rs1557910651, rs1557910202, rs1643093232, rs1643275394, rs369643163	RCV002546251 RCV001904736 RCV001382957 RCV001383081 RCV001384157 RCV001384191 RCV001386364 RCV001384323 RCV001388074 RCV001979377 RCV001967792 RCV001960614 RCV001946688 RCV001953804 RCV001934665 RCV001935421 RCV001962951 RCV001960739 RCV001951012 RCV001920345 RCV001206752 RCV001850029 RCV001208724 RCV003534855 RCV002706604 RCV002796931 RCV002791682 RCV002834048 RCV002871909 RCV002899346 RCV002933014 RCV002921976 RCV003016545 RCV003038657 RCV003047520 RCV000817369 RCV001058978 RCV000644606 RCV003036408 RCV002515587 RCV000799781 RCV003649424 RCV001385998 RCV001381855 RCV000800883 RCV003535028 RCV003779067 RCV003649459 RCV003536259 RCV003537532 RCV003535141 RCV003535510 RCV003536570 RCV003536862 RCV003538229 RCV003536964 RCV003538133 RCV003538142 RCV003538237 RCV003649529 RCV003649501 RCV003652319 RCV003653991 RCV003650225 RCV003650103 RCV003858458 RCV005100917 RCV002523888 RCV001386846 RCV001048988 RCV002531247 RCV002532039 RCV003653256 RCV001377362 RCV001043785 RCV002530744 RCV002532113 RCV001861767 RCV002536510 RCV001382724 RCV001222422 RCV001223596 RCV001210644 RCV001242136	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEX10-related disorder	Pathogenic	rs61750435, rs62636524	RCV004751207 RCV003900086	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic; Pathogenic	rs770937339	RCV001647252	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Zellweger spectrum disorders	Pathogenic; Likely pathogenic	rs61752092, rs267608183, rs61750435, rs886041314, rs62641225, rs61752093, rs62636524	RCV001831930 RCV001273137 RCV001273135 RCV001828171 RCV001833319 RCV001272085 RCV001273141	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX10 DEFICIENCY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERICARDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 6A	—	CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	BEFREE	28320181, 9683594		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	27232852		★☆☆☆☆ Found in Text Mining only
Autosomal recessive ataxia due to PEX10 deficiency	Ataxia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	Pubtator	24303009	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	30863997	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	24648396, 30863997		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	26911678	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Refsum disease	Refsum Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	27232852, 30863997	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	9700193		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal adrenoleukodystrophy	Adrenoleukodystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	22197933, 25505198		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	28784167	Associate	★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	BEFREE	10862081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 2B	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG	10862081, 12794690, 15542397, 17041890, 17702006, 19142205, 20695019, 21031596, 25179809, 25525159, 7565793, 9683594, 9700193		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	20695019, 27604308, 28784167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 6B	Zellweger Syndrome	CLINVAR_DG	10862081, 12794690, 15542397, 17041890, 17702006, 20695019, 21031596, 21465523, 25179809, 25525159, 7565793, 9683594		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 6B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	20695019, 24357685, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 6B	Zellweger Syndrome	UNIPROT_DG	9683594		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 6B	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome Biogenesis Disorder, Complementation Group 7	Zellweger Syndrome	CLINVAR_DG	10862081, 12794690, 17041890, 19105186, 19142205, 20695019, 21031596, 9683594, 9700193		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome Biogenesis Disorder, Complementation Group 7	Zellweger Syndrome	BEFREE	9683594		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	10862081, 12794690, 25176044, 28320181, 30640048, 9683594, 9700193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CLINVAR_DG	10862081, 12794690, 17702006, 21031596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CTD_human_DG	10862081, 9683594, 9700193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	19105186	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	28784167	Associate	★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	CTD_human_DG	10862081, 26319495, 9683594, 9700193		★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	27230853		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	10862081, 28320181		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	10862081, 26319495, 9683594, 9700193		★☆☆☆☆ Found in Text Mining only
Zellweger syndrome	Zellweger Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	GENOMICS_ENGLAND_DG	25655951		★☆☆☆☆ Found in Text Mining only
Zellweger-Like Syndrome	Zellweger-Like Syndrome	CTD_human_DG	10862081, 26319495, 9683594, 9700193		★☆☆☆☆ Found in Text Mining only