PEX14 (peroxisomal biogenesis factor 14)

Gene

• Entrez ID: 5195
• Gene name: Peroxisomal biogenesis factor 14
• Gene symbol: PEX14
• Synonyms (NCBI Gene): NAPP2, PBD13A, Pex14p, dJ734G22.2
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxiso

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12068754	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs61752116	C>T	Pathogenic	Stop gained, coding sequence variant
rs112851814	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs142285791	A>C,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145899844	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146359055	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs147043673	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs147210317	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148479162	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149856184	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372630614	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781098256	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031741	hsa-miR-16-5p	Proteomics	18668040
MIRT052548	hsa-let-7a-5p	CLASH	23622248
MIRT040066	hsa-miR-615-3p	CLASH	23622248
MIRT529163	hsa-miR-4293	PAR-CLIP	22012620
MIRT529162	hsa-miR-330-3p	PAR-CLIP	22012620
MIRT529161	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT529163	hsa-miR-4293	PAR-CLIP	22012620
MIRT529162	hsa-miR-330-3p	PAR-CLIP	22012620
MIRT529161	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT1225664	hsa-miR-1207-5p	CLIP-seq
MIRT1225665	hsa-miR-1266	CLIP-seq
MIRT1225666	hsa-miR-1321	CLIP-seq
MIRT1225667	hsa-miR-1827	CLIP-seq
MIRT1225668	hsa-miR-1915	CLIP-seq
MIRT1225669	hsa-miR-214	CLIP-seq
MIRT1225670	hsa-miR-3127-5p	CLIP-seq
MIRT1225671	hsa-miR-3135b	CLIP-seq
MIRT1225672	hsa-miR-3612	CLIP-seq
MIRT1225673	hsa-miR-3619-5p	CLIP-seq
MIRT1225674	hsa-miR-3652	CLIP-seq
MIRT1225675	hsa-miR-3918	CLIP-seq
MIRT1225676	hsa-miR-4419a	CLIP-seq
MIRT1225677	hsa-miR-4430	CLIP-seq
MIRT1225678	hsa-miR-4443	CLIP-seq
MIRT1225679	hsa-miR-4446-3p	CLIP-seq
MIRT1225680	hsa-miR-4492	CLIP-seq
MIRT1225681	hsa-miR-4498	CLIP-seq
MIRT1225682	hsa-miR-4510	CLIP-seq
MIRT1225683	hsa-miR-4518	CLIP-seq
MIRT1225684	hsa-miR-4640-5p	CLIP-seq
MIRT1225685	hsa-miR-4685-5p	CLIP-seq
MIRT1225686	hsa-miR-4690-5p	CLIP-seq
MIRT1225687	hsa-miR-4726-3p	CLIP-seq
MIRT1225688	hsa-miR-4726-5p	CLIP-seq
MIRT1225689	hsa-miR-4739	CLIP-seq
MIRT1225690	hsa-miR-4756-5p	CLIP-seq
MIRT1225691	hsa-miR-4763-3p	CLIP-seq
MIRT1225692	hsa-miR-650	CLIP-seq
MIRT1225693	hsa-miR-761	CLIP-seq
MIRT1225694	hsa-miR-762	CLIP-seq
MIRT1225695	hsa-miR-940	CLIP-seq
MIRT1552239	hsa-miR-3126-5p	CLIP-seq
MIRT1552240	hsa-miR-4268	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT1552242	hsa-miR-4691-5p	CLIP-seq
MIRT2065885	hsa-miR-3138	CLIP-seq
MIRT2065886	hsa-miR-4505	CLIP-seq
MIRT2065887	hsa-miR-4520a-3p	CLIP-seq
MIRT2065888	hsa-miR-4715-3p	CLIP-seq
MIRT2065889	hsa-miR-4733-3p	CLIP-seq
MIRT1225667	hsa-miR-1827	CLIP-seq
MIRT1225672	hsa-miR-3612	CLIP-seq
MIRT1225675	hsa-miR-3918	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT2065888	hsa-miR-4715-3p	CLIP-seq
MIRT1225692	hsa-miR-650	CLIP-seq
MIRT2439399	hsa-miR-4297	CLIP-seq
MIRT2439400	hsa-miR-639	CLIP-seq
MIRT2439399	hsa-miR-4297	CLIP-seq
MIRT2439400	hsa-miR-639	CLIP-seq
MIRT1552239	hsa-miR-3126-5p	CLIP-seq
MIRT2591628	hsa-miR-3150b-3p	CLIP-seq
MIRT1552240	hsa-miR-4268	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT2591629	hsa-miR-4689	CLIP-seq
MIRT1552242	hsa-miR-4691-5p	CLIP-seq
MIRT2591630	hsa-miR-4784	CLIP-seq
MIRT2591631	hsa-miR-4785	CLIP-seq
MIRT1225667	hsa-miR-1827	CLIP-seq
MIRT2687618	hsa-miR-2682	CLIP-seq
MIRT1552239	hsa-miR-3126-5p	CLIP-seq
MIRT2591628	hsa-miR-3150b-3p	CLIP-seq
MIRT1225672	hsa-miR-3612	CLIP-seq
MIRT1552240	hsa-miR-4268	CLIP-seq
MIRT2687619	hsa-miR-449c	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT2591629	hsa-miR-4689	CLIP-seq
MIRT1552242	hsa-miR-4691-5p	CLIP-seq
MIRT2591630	hsa-miR-4784	CLIP-seq
MIRT2591631	hsa-miR-4785	CLIP-seq
MIRT1225692	hsa-miR-650	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003714	Function	Transcription corepressor activity	IDA	11863372
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	10022913, 21525035
GO:0005515	Function	Protein binding	IPI	9653144, 10562279, 10704444, 11863372, 12096124, 12488033, 19197237, 19584060, 21525035, 21976670, 24235149, 29997244, 31467278, 32296183, 37398436
GO:0005634	Component	Nucleus	NAS	11863372
GO:0005777	Component	Peroxisome	IDA	16449325, 17881773, 19197237, 21375735
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	19197237, 28765278
GO:0005778	Component	Peroxisomal membrane	IDA	10022913, 11669066, 16449325, 18346465
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	ISS
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006513	Process	Protein monoubiquitination	ISS	35768507
GO:0007031	Process	Peroxisome organization	IGI	10022913
GO:0007031	Process	Peroxisome organization	ISS
GO:0008017	Function	Microtubule binding	IDA	21525035
GO:0008320	Function	Protein transmembrane transporter activity	IDA	28765278
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016558	Process	Protein import into peroxisome matrix	IDA	21976670
GO:0016558	Process	Protein import into peroxisome matrix	IMP	15146459
GO:0016560	Process	Protein import into peroxisome matrix, docking	IBA
GO:0016560	Process	Protein import into peroxisome matrix, docking	IDA	11438541, 25538232, 28765278
GO:0016561	Process	Protein import into peroxisome matrix, translocation	IDA	28765278
GO:0016561	Process	Protein import into peroxisome matrix, translocation	IDA	21525035, 28765278
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980, 19208625, 24662292
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	11438541, 24235149, 28765278
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0032091	Process	Negative regulation of protein binding	IDA	21976670
GO:0032991	Component	Protein-containing complex	IDA	19584060
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0034453	Process	Microtubule anchoring	IDA	21525035
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0036250	Process	Peroxisome transport along microtubule	IDA	21525035
GO:0042802	Function	Identical protein binding	IPI	12488033
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	11863372
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	IDA	21976670
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS	35768507
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11863372
GO:0048487	Function	Beta-tubulin binding	IPI	21525035
GO:0065003	Process	Protein-containing complex assembly	IDA	21525035
GO:1990429	Component	Peroxisomal importomer complex	IBA

Other IDs

• MIM: 601791
• HGNC: 8856
• e!Ensembl: ENSG00000142655

Protein

• UniProt ID: O75381
• Protein name: Peroxisomal membrane protein PEX14 (PTS1 receptor-docking protein) (Peroxin-14) (Peroxisomal membrane anchor protein PEX14)
• Protein function: Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:24235149, PubMed:28765278, PubMed:9653144). The PEX13-PEX14 docking complex for
• PDB: 2W84, 2W85, 4BXU, 9GAG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04695	Pex14_N	24 → 69	Pex14 N-terminal domain	Domain

• Sequence:

  MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD
  EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA
  FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ
  QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS
  WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE
  GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ
  VEKLRRPEGASNESERD

• Sequence length: 377

Pathways

KEGG:

Peroxisome

Reactome:

E3 ubiquitin ligases ubiquitinate target proteins
Peroxisomal protein import
Class I peroxisomal membrane 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
Peroxisome biogenesis disorder 13A (Zellweger)	Pathogenic	rs61752116	RCV000008140	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder, complementation group K	Likely pathogenic; Pathogenic	rs2521665871, rs370090221, rs2521826589, rs1391484758, rs1641167602	RCV003595072 RCV003593762 RCV003594545 RCV003823950 RCV001068867	★★★★★ 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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 13A	—	CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★☆☆☆ 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 DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEX14-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ 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	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZELLWEGER SPECTRUM DISORDERS	—	GWAS catalog	★★☆☆☆ 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	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	27182965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	23535729, 23535733, 25751625, 27117709, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	24325915, 27604554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24325915, 26472073, 27859137	Associate	★☆☆☆☆ 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
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33787596	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Crystalline of Schnyder	Corneal dystrophy	Pubtator	16163269	Associate	★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ 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
Glioma	Glioma	Pubtator	20378009	Associate	★☆☆☆☆ 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	BEFREE	10716247		★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	ORPHANET_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
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	23535729, 23535733		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24325915, 27604554		★☆☆☆☆ 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
Neoplasms	Neoplasms	BEFREE	17044048		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10980605, 17044048		★☆☆☆☆ 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
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	15146459, 18285423, 24357685, 26627464, 27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)	Zellweger Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	15146459, 15921234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CTD_human_DG	15146459, 18285423, 20647552		★★☆☆☆ 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
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	25217961, 29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ 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
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24325915	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28770278		★☆☆☆☆ 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	15146459, 18285423		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	15146459, 18285423		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	15146459, 18285423		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	LHGDN	18285423		★☆☆☆☆ Found in Text Mining only
Zellweger syndrome	Zellweger Syndrome	Orphanet			★☆☆☆☆ 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	15146459, 18285423		★☆☆☆☆ Found in Text Mining only