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	5193
Gene name	Peroxisomal biogenesis factor 12
Gene symbol	PEX12
Synonyms (NCBI Gene)	PAF-3PBD3A
Chromosome	17
Chromosome location	17q12
Summary	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal disease

Show/Hide all (50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936697	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs28936698	T>A	Pathogenic	Missense variant, coding sequence variant
rs61752097	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs61752100	CTTT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs61752102	TGT>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs61752103	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs61752105	G>A	Pathogenic	Stop gained, coding sequence variant
rs61752106	G>A,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs61752107	->GGCA	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs61752108	->A	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs61752112	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62642859	TAAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs104894616	T>A	Pathogenic	Stop gained, coding sequence variant
rs139417458	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144259891	C>A,T	Pathogenic	Splice donor variant
rs150186509	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs187526749	T>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Splice acceptor variant
rs200283718	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs200641558	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs267608184	TGT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs398123301	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123302	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs747099919	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs749650201	CCAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs751058068	GAA>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs754193088	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs758132842	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760739894	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs765404768	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs767447750	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs776731688	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs786205502	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs886041458	CTGG>-,CTGGCTGG	Pathogenic	Coding sequence variant, frameshift variant
rs888633730	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs904972651	C>T	Likely-pathogenic	Splice donor variant
rs941358133	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057519507	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1199283977	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1214971073	GAGTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1238451790	->GTGCTACC	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained
rs1555549754	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555549769	CACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555549841	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555549855	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555549876	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555549902	A>T	Likely-pathogenic	Splice donor variant
rs1555549909	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555549923	TA>-	Likely-pathogenic	Frameshift variant, initiator codon variant, 5 prime UTR variant
rs1567730901	CGGGAAGAAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567731767	A>C	Pathogenic	Stop gained, coding sequence variant

129

Show/Hide all (129)

miRTarBase ID	miRNA	Experiments	Reference
MIRT726974	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726975	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726973	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726972	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT1225448	hsa-miR-1208	CLIP-seq
MIRT1225449	hsa-miR-1237	CLIP-seq
MIRT1225450	hsa-miR-1248	CLIP-seq
MIRT1225451	hsa-miR-1273e	CLIP-seq
MIRT1225452	hsa-miR-141	CLIP-seq
MIRT1225453	hsa-miR-15a	CLIP-seq
MIRT1225454	hsa-miR-15b	CLIP-seq
MIRT1225455	hsa-miR-16	CLIP-seq
MIRT1225456	hsa-miR-1910	CLIP-seq
MIRT1225457	hsa-miR-194	CLIP-seq
MIRT1225458	hsa-miR-195	CLIP-seq
MIRT1225459	hsa-miR-200a	CLIP-seq
MIRT1225460	hsa-miR-2278	CLIP-seq
MIRT1225461	hsa-miR-296-3p	CLIP-seq
MIRT1225462	hsa-miR-3117-5p	CLIP-seq
MIRT1225463	hsa-miR-3133	CLIP-seq
MIRT1225464	hsa-miR-3607-3p	CLIP-seq
MIRT1225465	hsa-miR-3686	CLIP-seq
MIRT1225466	hsa-miR-424	CLIP-seq
MIRT1225467	hsa-miR-425	CLIP-seq
MIRT1225468	hsa-miR-4317	CLIP-seq
MIRT1225469	hsa-miR-433	CLIP-seq
MIRT1225470	hsa-miR-4477a	CLIP-seq
MIRT1225471	hsa-miR-4511	CLIP-seq
MIRT1225472	hsa-miR-4524	CLIP-seq
MIRT1225473	hsa-miR-4690-5p	CLIP-seq
MIRT1225474	hsa-miR-4760-3p	CLIP-seq
MIRT1225475	hsa-miR-4766-3p	CLIP-seq
MIRT1225476	hsa-miR-4777-5p	CLIP-seq
MIRT1225477	hsa-miR-491-3p	CLIP-seq
MIRT1225478	hsa-miR-497	CLIP-seq
MIRT1225479	hsa-miR-503	CLIP-seq
MIRT1225480	hsa-miR-518d-5p	CLIP-seq
MIRT1225481	hsa-miR-519b-5p	CLIP-seq
MIRT1225482	hsa-miR-519c-5p	CLIP-seq
MIRT1225483	hsa-miR-520c-5p	CLIP-seq
MIRT1225484	hsa-miR-526a	CLIP-seq
MIRT1225485	hsa-miR-548p	CLIP-seq
MIRT1225486	hsa-miR-646	CLIP-seq
MIRT1225453	hsa-miR-15a	CLIP-seq
MIRT1225454	hsa-miR-15b	CLIP-seq
MIRT1225455	hsa-miR-16	CLIP-seq
MIRT1225458	hsa-miR-195	CLIP-seq
MIRT1225462	hsa-miR-3117-5p	CLIP-seq
MIRT1225466	hsa-miR-424	CLIP-seq
MIRT1225472	hsa-miR-4524	CLIP-seq
MIRT1225475	hsa-miR-4766-3p	CLIP-seq
MIRT2065827	hsa-miR-495	CLIP-seq
MIRT1225478	hsa-miR-497	CLIP-seq
MIRT1225479	hsa-miR-503	CLIP-seq
MIRT1225485	hsa-miR-548p	CLIP-seq
MIRT2065828	hsa-miR-576-3p	CLIP-seq
MIRT1225486	hsa-miR-646	CLIP-seq
MIRT2065829	hsa-miR-668	CLIP-seq
MIRT2293566	hsa-miR-1185	CLIP-seq
MIRT2293567	hsa-miR-1294	CLIP-seq
MIRT1225452	hsa-miR-141	CLIP-seq
MIRT1225453	hsa-miR-15a	CLIP-seq
MIRT1225454	hsa-miR-15b	CLIP-seq
MIRT1225455	hsa-miR-16	CLIP-seq
MIRT1225457	hsa-miR-194	CLIP-seq
MIRT1225458	hsa-miR-195	CLIP-seq
MIRT1225459	hsa-miR-200a	CLIP-seq
MIRT1225462	hsa-miR-3117-5p	CLIP-seq
MIRT1225463	hsa-miR-3133	CLIP-seq
MIRT2293568	hsa-miR-323-3p	CLIP-seq
MIRT2293569	hsa-miR-3605-5p	CLIP-seq
MIRT2293570	hsa-miR-3617	CLIP-seq
MIRT2293571	hsa-miR-3679-5p	CLIP-seq
MIRT1225466	hsa-miR-424	CLIP-seq
MIRT2293572	hsa-miR-4267	CLIP-seq
MIRT2293573	hsa-miR-4316	CLIP-seq
MIRT1225470	hsa-miR-4477a	CLIP-seq
MIRT2293574	hsa-miR-4504	CLIP-seq
MIRT1225471	hsa-miR-4511	CLIP-seq
MIRT1225472	hsa-miR-4524	CLIP-seq
MIRT2293575	hsa-miR-4677-3p	CLIP-seq
MIRT2293576	hsa-miR-4679	CLIP-seq
MIRT1225475	hsa-miR-4766-3p	CLIP-seq
MIRT1225478	hsa-miR-497	CLIP-seq
MIRT1225479	hsa-miR-503	CLIP-seq
MIRT2293577	hsa-miR-542-3p	CLIP-seq
MIRT1225485	hsa-miR-548p	CLIP-seq
MIRT2293578	hsa-miR-641	CLIP-seq
MIRT1225486	hsa-miR-646	CLIP-seq
MIRT1225448	hsa-miR-1208	CLIP-seq
MIRT2591605	hsa-miR-1264	CLIP-seq
MIRT1225453	hsa-miR-15a	CLIP-seq
MIRT1225454	hsa-miR-15b	CLIP-seq
MIRT1225455	hsa-miR-16	CLIP-seq
MIRT1225458	hsa-miR-195	CLIP-seq
MIRT1225462	hsa-miR-3117-5p	CLIP-seq
MIRT1225463	hsa-miR-3133	CLIP-seq
MIRT2591606	hsa-miR-3160-5p	CLIP-seq
MIRT1225466	hsa-miR-424	CLIP-seq
MIRT2591607	hsa-miR-4263	CLIP-seq
MIRT2591608	hsa-miR-431	CLIP-seq
MIRT1225470	hsa-miR-4477a	CLIP-seq
MIRT1225471	hsa-miR-4511	CLIP-seq
MIRT2591609	hsa-miR-4514	CLIP-seq
MIRT1225472	hsa-miR-4524	CLIP-seq
MIRT2591610	hsa-miR-4692	CLIP-seq
MIRT2591611	hsa-miR-4736	CLIP-seq
MIRT1225475	hsa-miR-4766-3p	CLIP-seq
MIRT2591612	hsa-miR-4799-5p	CLIP-seq
MIRT2591613	hsa-miR-490-3p	CLIP-seq
MIRT1225477	hsa-miR-491-3p	CLIP-seq
MIRT1225478	hsa-miR-497	CLIP-seq
MIRT1225479	hsa-miR-503	CLIP-seq
MIRT1225485	hsa-miR-548p	CLIP-seq
MIRT2591614	hsa-miR-576-5p	CLIP-seq
MIRT2591615	hsa-miR-629	CLIP-seq
MIRT1225486	hsa-miR-646	CLIP-seq
MIRT2591616	hsa-miR-649	CLIP-seq
MIRT2591617	hsa-miR-940	CLIP-seq
MIRT2591605	hsa-miR-1264	CLIP-seq
MIRT2591606	hsa-miR-3160-5p	CLIP-seq
MIRT2591607	hsa-miR-4263	CLIP-seq
MIRT2591608	hsa-miR-431	CLIP-seq
MIRT2591609	hsa-miR-4514	CLIP-seq
MIRT2591610	hsa-miR-4692	CLIP-seq
MIRT2591611	hsa-miR-4736	CLIP-seq
MIRT2591612	hsa-miR-4799-5p	CLIP-seq
MIRT2591614	hsa-miR-576-5p	CLIP-seq
MIRT2591617	hsa-miR-940	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	24662292
GO:0000209	Process	Protein polyubiquitination	IDA	24662292
GO:0000425	Process	Pexophagy	IDA	26344566, 27597759
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0005515	Function	Protein binding	IPI	10562279, 10704444, 10837480, 12096124, 32296183
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	9922452, 12751901
GO:0005778	Component	Peroxisomal membrane	IDA	9090384, 9354782
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS	10562279
GO:0005829	Component	Cytosol	TAS
GO:0006513	Process	Protein monoubiquitination	IBA
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:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	ISS	35768507
GO:0006625	Process	Protein targeting to peroxisome	NAS	12096124
GO:0007031	Process	Peroxisome organization	IDA	9354782
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	17534573
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	IMP	10562279
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	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IMP	9090384, 10562279
GO:0016558	Process	Protein import into peroxisome matrix	NAS	12456682
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: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: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
GO:1990429	Component	Peroxisomal importomer complex	IBA
GO:1990757	Function	Ubiquitin ligase activator activity	IDA	24662292

MIM	HGNC	e!Ensembl
601758	8854	ENSG00000108733

O00623

Protein name

Peroxisome assembly protein 12 (Peroxin-12) (Peroxisome assembly factor 3) (PAF-3)

Protein function

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, PubMed:9354782, PubMed:9632816). The retr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04757	Pex2_Pex12	26 → 267	Pex2 / Pex12 amino terminal region	Family

Sequence

MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFD
EIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFL
VLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLR
YILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAV
GGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKM
KTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN

Sequence length

359

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		E3 ubiquitin ligases ubiquitinate target proteins Peroxisomal protein import Class I peroxisomal membrane protein import

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs144259891	RCV005900642	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisomal biogenesis disorder 3b	Pathogenic; Likely pathogenic	rs61752103, rs28936697, rs61752097, rs28936698	RCV000032926 RCV000008217 RCV000008218 RCV000008220	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder	Likely pathogenic; Pathogenic	rs867245161, rs61752109, rs61752103, rs28936697, rs61752107, rs144259891, rs61752102, rs61752100, rs764657253, rs61752108, rs61752106, rs1567730901, rs398123301	RCV004017827 RCV005636691 RCV001193474 RCV002281700 RCV000781710 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 3A (Zellweger)	Pathogenic; Likely pathogenic	rs2142228734, rs2072781707, rs2142228928, rs867245161, rs2142228982, rs1056238409, rs61752099, rs2142231201, rs2142231221, rs61752101, rs144259891, rs2072782816, rs2142231111, rs1429126106, rs923109489 View all (80 more)	RCV001377791 RCV001381260 RCV001380807 RCV001381697 RCV001383266 View all (92 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder type 3B	Likely pathogenic; Pathogenic	rs923109489, rs776731688, rs2509168104, rs61752103, rs28936697, rs2072790040, rs61752107, rs62642859, rs144259891, rs61752102, rs760739894, rs61752100, rs941358133, rs749650201, rs1555549841 View all (23 more)	RCV005016764 RCV000675037 RCV005008774 RCV000666018 RCV005394138 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEX12-related disorder	Likely pathogenic; Pathogenic	rs776731688, rs2509169676, rs61752107, rs61752100, rs1555549855, rs398123301, rs398123302	RCV004552945 RCV004554281 RCV003335311 RCV003336090 RCV004547837 RCV004739344 RCV004724797 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

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.
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ 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; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 3A	—	CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 3B	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZELLWEGER SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Addison Disease	Addison`s Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	ORPHANET_DG			★★★★★ ★☆☆☆☆ 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
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
Dwarfism	Dwarfism	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
Hypocholesterolemia	Hypocholesterolemia	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	BEFREE	14571262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	LHGDN	15241794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ 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
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	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
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
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG	10562279, 10837480, 11370741, 14571262, 15542397, 19105186, 20681997, 21031596, 22471590, 27124789, 27763634, 9090384, 9632816, 9792857		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)	Zellweger Syndrome	UNIPROT_DG	19105186, 9090384		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	24357685, 25655951, 27604308, 9354782		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)	Zellweger Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 3B	Zellweger Syndrome	CLINVAR_DG	10562279, 10837480, 11370741, 14571262, 15542397, 19105186, 20681997, 21031596, 22471590, 27124789, 27763634, 9090384, 9792857		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 3B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	24357685, 25655951, 27604308, 9354782		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 3B	Zellweger Syndrome	UNIPROT_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CLINVAR_DG	10527683, 14630978, 15542397, 19105186, 19877282, 21031596, 25287621, 29389947, 9792857		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	11330042, 14571262, 26947510, 9090384, 9792857		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	19105186, 9792857	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CTD_human_DG	9090384		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ 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
Ptosis	Ptosis	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
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	26319495, 9090384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	27230853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger syndrome	Zellweger Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	24627108, 25287621, 9632816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	26319495, 9090384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger-Like Syndrome	Zellweger-Like Syndrome	CTD_human_DG	26319495, 9090384		★★★★★ ★☆☆☆☆ Found in Text Mining only

PEX12 (peroxisomal biogenesis factor 12)