PEX11B (peroxisomal biogenesis factor 11 beta)

Gene

• Entrez ID: 8799
• Gene name: Peroxisomal biogenesis factor 11 beta
• Gene symbol: PEX11B
• Synonyms (NCBI Gene): PEX11-BETA, PEX11beta, PEX14B
• Chromosome: 1
• Chromosome location: 1q21.1
• Summary: The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199515730	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs200094067	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs781939614	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs781984979	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005144	hsa-miR-30a-5p	pSILAC	18668040
MIRT016374	hsa-miR-193b-3p	Microarray	20304954
MIRT019825	hsa-miR-375	Microarray	20215506
MIRT005144	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT032298	hsa-let-7b-5p	Proteomics	18668040
MIRT266212	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT266228	hsa-miR-4500	PAR-CLIP	21572407
MIRT266227	hsa-miR-4458	PAR-CLIP	21572407
MIRT266217	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT266216	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT266211	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT266210	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT032298	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT266209	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT266213	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT266215	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT555695	hsa-miR-4475	PAR-CLIP	21572407
MIRT266223	hsa-miR-3125	PAR-CLIP	21572407
MIRT266225	hsa-miR-3916	PAR-CLIP	21572407
MIRT266236	hsa-miR-6859-5p	PAR-CLIP	21572407
MIRT555694	hsa-miR-4496	PAR-CLIP	21572407
MIRT266222	hsa-miR-1321	PAR-CLIP	21572407
MIRT266231	hsa-miR-4739	PAR-CLIP	21572407
MIRT266232	hsa-miR-4756-5p	PAR-CLIP	21572407
MIRT266226	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT266235	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT555693	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT555692	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT266218	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT266234	hsa-miR-6086	PAR-CLIP	21572407
MIRT555691	hsa-miR-381-5p	PAR-CLIP	21572407
MIRT555690	hsa-miR-4261	PAR-CLIP	21572407
MIRT266233	hsa-miR-6077	PAR-CLIP	21572407
MIRT266220	hsa-miR-766-5p	PAR-CLIP	21572407
MIRT266238	hsa-miR-7106-5p	PAR-CLIP	21572407
MIRT266230	hsa-miR-3529-5p	PAR-CLIP	21572407
MIRT266219	hsa-miR-379-5p	PAR-CLIP	21572407
MIRT555689	hsa-miR-4792	PAR-CLIP	21572407
MIRT266229	hsa-miR-4710	PAR-CLIP	21572407
MIRT266221	hsa-miR-1294	PAR-CLIP	21572407
MIRT266237	hsa-miR-6892-5p	PAR-CLIP	21572407
MIRT555688	hsa-miR-5708	PAR-CLIP	21572407
MIRT266239	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT555687	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT266212	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT266228	hsa-miR-4500	PAR-CLIP	21572407
MIRT266227	hsa-miR-4458	PAR-CLIP	21572407
MIRT266217	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT266216	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT266211	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT266210	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT032298	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT266209	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT266213	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT266215	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT555695	hsa-miR-4475	PAR-CLIP	21572407
MIRT266223	hsa-miR-3125	PAR-CLIP	21572407
MIRT266225	hsa-miR-3916	PAR-CLIP	21572407
MIRT266236	hsa-miR-6859-5p	PAR-CLIP	21572407
MIRT555694	hsa-miR-4496	PAR-CLIP	21572407
MIRT266222	hsa-miR-1321	PAR-CLIP	21572407
MIRT266231	hsa-miR-4739	PAR-CLIP	21572407
MIRT266232	hsa-miR-4756-5p	PAR-CLIP	21572407
MIRT266226	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT266235	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT555693	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT555692	hsa-miR-202-3p	PAR-CLIP	21572407
MIRT266218	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT266234	hsa-miR-6086	PAR-CLIP	21572407
MIRT555691	hsa-miR-381-5p	PAR-CLIP	21572407
MIRT555690	hsa-miR-4261	PAR-CLIP	21572407
MIRT266233	hsa-miR-6077	PAR-CLIP	21572407
MIRT266220	hsa-miR-766-5p	PAR-CLIP	21572407
MIRT266238	hsa-miR-7106-5p	PAR-CLIP	21572407
MIRT266230	hsa-miR-3529-5p	PAR-CLIP	21572407
MIRT266219	hsa-miR-379-5p	PAR-CLIP	21572407
MIRT555689	hsa-miR-4792	PAR-CLIP	21572407
MIRT266229	hsa-miR-4710	PAR-CLIP	21572407
MIRT266221	hsa-miR-1294	PAR-CLIP	21572407
MIRT266237	hsa-miR-6892-5p	PAR-CLIP	21572407
MIRT555688	hsa-miR-5708	PAR-CLIP	21572407
MIRT266239	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT555687	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT1225376	hsa-let-7a	CLIP-seq
MIRT1225377	hsa-let-7b	CLIP-seq
MIRT1225378	hsa-let-7c	CLIP-seq
MIRT1225379	hsa-let-7d	CLIP-seq
MIRT1225380	hsa-let-7e	CLIP-seq
MIRT1225381	hsa-let-7f	CLIP-seq
MIRT1225382	hsa-let-7g	CLIP-seq
MIRT1225383	hsa-let-7i	CLIP-seq
MIRT1225384	hsa-miR-1236	CLIP-seq
MIRT1225385	hsa-miR-1261	CLIP-seq
MIRT1225386	hsa-miR-1272	CLIP-seq
MIRT1225387	hsa-miR-1273c	CLIP-seq
MIRT1225388	hsa-miR-1275	CLIP-seq
MIRT1225389	hsa-miR-1299	CLIP-seq
MIRT1225390	hsa-miR-202	CLIP-seq
MIRT1225391	hsa-miR-2110	CLIP-seq
MIRT1225392	hsa-miR-2467-5p	CLIP-seq
MIRT1225393	hsa-miR-3188	CLIP-seq
MIRT1225394	hsa-miR-320a	CLIP-seq
MIRT1225395	hsa-miR-320b	CLIP-seq
MIRT1225396	hsa-miR-320c	CLIP-seq
MIRT1225397	hsa-miR-320d	CLIP-seq
MIRT1225398	hsa-miR-3529	CLIP-seq
MIRT1225399	hsa-miR-379	CLIP-seq
MIRT1225400	hsa-miR-3926	CLIP-seq
MIRT1225401	hsa-miR-3927	CLIP-seq
MIRT1225402	hsa-miR-3941	CLIP-seq
MIRT1225403	hsa-miR-3973	CLIP-seq
MIRT1225404	hsa-miR-3975	CLIP-seq
MIRT1225405	hsa-miR-4271	CLIP-seq
MIRT1225406	hsa-miR-4289	CLIP-seq
MIRT1225407	hsa-miR-4429	CLIP-seq
MIRT1225408	hsa-miR-4463	CLIP-seq
MIRT1225409	hsa-miR-4494	CLIP-seq
MIRT1225410	hsa-miR-4511	CLIP-seq
MIRT1225411	hsa-miR-4525	CLIP-seq
MIRT1225412	hsa-miR-4642	CLIP-seq
MIRT1225413	hsa-miR-4643	CLIP-seq
MIRT1225414	hsa-miR-466	CLIP-seq
MIRT1225415	hsa-miR-4665-5p	CLIP-seq
MIRT1225416	hsa-miR-4667-5p	CLIP-seq
MIRT1225417	hsa-miR-4672	CLIP-seq
MIRT1225418	hsa-miR-4691-5p	CLIP-seq
MIRT1225419	hsa-miR-4699-3p	CLIP-seq
MIRT1225420	hsa-miR-4700-3p	CLIP-seq
MIRT1225421	hsa-miR-4700-5p	CLIP-seq
MIRT1225422	hsa-miR-4717-3p	CLIP-seq
MIRT1225423	hsa-miR-4717-5p	CLIP-seq
MIRT1225424	hsa-miR-4723-5p	CLIP-seq
MIRT1225425	hsa-miR-4725-3p	CLIP-seq
MIRT1225426	hsa-miR-4766-5p	CLIP-seq
MIRT1225427	hsa-miR-4773	CLIP-seq
MIRT1225428	hsa-miR-4782-5p	CLIP-seq
MIRT1225429	hsa-miR-4789-3p	CLIP-seq
MIRT1225430	hsa-miR-485-5p	CLIP-seq
MIRT1225431	hsa-miR-488	CLIP-seq
MIRT1225432	hsa-miR-494	CLIP-seq
MIRT1225433	hsa-miR-516b	CLIP-seq
MIRT1225434	hsa-miR-520g	CLIP-seq
MIRT1225435	hsa-miR-520h	CLIP-seq
MIRT1225436	hsa-miR-548b-3p	CLIP-seq
MIRT1225437	hsa-miR-548c-3p	CLIP-seq
MIRT1225438	hsa-miR-625	CLIP-seq
MIRT1225439	hsa-miR-98	CLIP-seq
MIRT1225385	hsa-miR-1261	CLIP-seq
MIRT1225387	hsa-miR-1273c	CLIP-seq
MIRT1225389	hsa-miR-1299	CLIP-seq
MIRT1225440	hsa-miR-221	CLIP-seq
MIRT1225441	hsa-miR-222	CLIP-seq
MIRT1225442	hsa-miR-2467-3p	CLIP-seq
MIRT1225443	hsa-miR-3120-3p	CLIP-seq
MIRT1225444	hsa-miR-3678-3p	CLIP-seq
MIRT1225408	hsa-miR-4463	CLIP-seq
MIRT1225409	hsa-miR-4494	CLIP-seq
MIRT1225410	hsa-miR-4511	CLIP-seq
MIRT1225445	hsa-miR-451b	CLIP-seq
MIRT1225413	hsa-miR-4643	CLIP-seq
MIRT1225414	hsa-miR-466	CLIP-seq
MIRT1225446	hsa-miR-4756-3p	CLIP-seq
MIRT1225427	hsa-miR-4773	CLIP-seq
MIRT1225428	hsa-miR-4782-5p	CLIP-seq
MIRT1225429	hsa-miR-4789-3p	CLIP-seq
MIRT1225432	hsa-miR-494	CLIP-seq
MIRT1225433	hsa-miR-516b	CLIP-seq
MIRT1225436	hsa-miR-548b-3p	CLIP-seq
MIRT1225437	hsa-miR-548c-3p	CLIP-seq
MIRT1225447	hsa-miR-548v	CLIP-seq
MIRT2065826	hsa-miR-4307	CLIP-seq
MIRT1225437	hsa-miR-548c-3p	CLIP-seq
MIRT1225402	hsa-miR-3941	CLIP-seq
MIRT2065826	hsa-miR-4307	CLIP-seq
MIRT2432108	hsa-miR-4528	CLIP-seq
MIRT1225412	hsa-miR-4642	CLIP-seq
MIRT1225414	hsa-miR-466	CLIP-seq
MIRT1225417	hsa-miR-4672	CLIP-seq
MIRT1225419	hsa-miR-4699-3p	CLIP-seq
MIRT1225423	hsa-miR-4717-5p	CLIP-seq
MIRT1225426	hsa-miR-4766-5p	CLIP-seq
MIRT2432109	hsa-miR-4775	CLIP-seq
MIRT1225431	hsa-miR-488	CLIP-seq
MIRT1225437	hsa-miR-548c-3p	CLIP-seq
MIRT2456263	hsa-miR-3133	CLIP-seq
MIRT1225427	hsa-miR-4773	CLIP-seq
MIRT2456264	hsa-miR-583	CLIP-seq
MIRT2591560	hsa-miR-1229	CLIP-seq
MIRT2591561	hsa-miR-1252	CLIP-seq
MIRT1225388	hsa-miR-1275	CLIP-seq
MIRT2591562	hsa-miR-1972	CLIP-seq
MIRT2591563	hsa-miR-2682	CLIP-seq
MIRT2591564	hsa-miR-3144-3p	CLIP-seq
MIRT2591565	hsa-miR-3148	CLIP-seq
MIRT2591566	hsa-miR-3173-3p	CLIP-seq
MIRT2591567	hsa-miR-3191	CLIP-seq
MIRT2591568	hsa-miR-3198	CLIP-seq
MIRT2591569	hsa-miR-3613-3p	CLIP-seq
MIRT2591570	hsa-miR-3714	CLIP-seq
MIRT1225400	hsa-miR-3926	CLIP-seq
MIRT2065826	hsa-miR-4307	CLIP-seq
MIRT2591571	hsa-miR-4309	CLIP-seq
MIRT2591572	hsa-miR-4438	CLIP-seq
MIRT2591573	hsa-miR-449c	CLIP-seq
MIRT1225411	hsa-miR-4525	CLIP-seq
MIRT2591574	hsa-miR-4653-3p	CLIP-seq
MIRT1225415	hsa-miR-4665-5p	CLIP-seq
MIRT2591575	hsa-miR-4667-3p	CLIP-seq
MIRT2591576	hsa-miR-4677-3p	CLIP-seq
MIRT2591577	hsa-miR-4679	CLIP-seq
MIRT1225422	hsa-miR-4717-3p	CLIP-seq
MIRT1225424	hsa-miR-4723-5p	CLIP-seq
MIRT2591578	hsa-miR-4727-5p	CLIP-seq
MIRT2591579	hsa-miR-4769-3p	CLIP-seq
MIRT2591580	hsa-miR-486-5p	CLIP-seq
MIRT2591581	hsa-miR-5095	CLIP-seq
MIRT2591582	hsa-miR-539	CLIP-seq
MIRT2591583	hsa-miR-548a-5p	CLIP-seq
MIRT2591584	hsa-miR-548ab	CLIP-seq
MIRT2591585	hsa-miR-548ak	CLIP-seq
MIRT2591586	hsa-miR-548b-5p	CLIP-seq
MIRT1225437	hsa-miR-548c-3p	CLIP-seq
MIRT2591587	hsa-miR-548c-5p	CLIP-seq
MIRT2591588	hsa-miR-548d-5p	CLIP-seq
MIRT2591589	hsa-miR-548h	CLIP-seq
MIRT2591590	hsa-miR-548i	CLIP-seq
MIRT2591591	hsa-miR-548j	CLIP-seq
MIRT2591592	hsa-miR-548n	CLIP-seq
MIRT2591593	hsa-miR-548w	CLIP-seq
MIRT2591594	hsa-miR-548y	CLIP-seq
MIRT2591595	hsa-miR-559	CLIP-seq
MIRT2591596	hsa-miR-600	CLIP-seq
MIRT1225438	hsa-miR-625	CLIP-seq
MIRT2591597	hsa-miR-875-5p	CLIP-seq
MIRT2591560	hsa-miR-1229	CLIP-seq
MIRT2591561	hsa-miR-1252	CLIP-seq
MIRT1225388	hsa-miR-1275	CLIP-seq
MIRT2591562	hsa-miR-1972	CLIP-seq
MIRT2591563	hsa-miR-2682	CLIP-seq
MIRT2591564	hsa-miR-3144-3p	CLIP-seq
MIRT2591565	hsa-miR-3148	CLIP-seq
MIRT2591566	hsa-miR-3173-3p	CLIP-seq
MIRT2591567	hsa-miR-3191	CLIP-seq
MIRT2591568	hsa-miR-3198	CLIP-seq
MIRT2591569	hsa-miR-3613-3p	CLIP-seq
MIRT2591570	hsa-miR-3714	CLIP-seq
MIRT1225400	hsa-miR-3926	CLIP-seq
MIRT2065826	hsa-miR-4307	CLIP-seq
MIRT2591571	hsa-miR-4309	CLIP-seq
MIRT2591572	hsa-miR-4438	CLIP-seq
MIRT2591573	hsa-miR-449c	CLIP-seq
MIRT1225411	hsa-miR-4525	CLIP-seq
MIRT2687607	hsa-miR-4539	CLIP-seq
MIRT2591574	hsa-miR-4653-3p	CLIP-seq
MIRT1225415	hsa-miR-4665-5p	CLIP-seq
MIRT2591575	hsa-miR-4667-3p	CLIP-seq
MIRT2591576	hsa-miR-4677-3p	CLIP-seq
MIRT2591577	hsa-miR-4679	CLIP-seq
MIRT1225422	hsa-miR-4717-3p	CLIP-seq
MIRT1225424	hsa-miR-4723-5p	CLIP-seq
MIRT2687608	hsa-miR-4724-5p	CLIP-seq
MIRT2591578	hsa-miR-4727-5p	CLIP-seq
MIRT2591579	hsa-miR-4769-3p	CLIP-seq
MIRT2432109	hsa-miR-4775	CLIP-seq
MIRT2591580	hsa-miR-486-5p	CLIP-seq
MIRT2591581	hsa-miR-5095	CLIP-seq
MIRT2591582	hsa-miR-539	CLIP-seq
MIRT2591583	hsa-miR-548a-5p	CLIP-seq
MIRT2591584	hsa-miR-548ab	CLIP-seq
MIRT2591585	hsa-miR-548ak	CLIP-seq
MIRT2591586	hsa-miR-548b-5p	CLIP-seq
MIRT1225437	hsa-miR-548c-3p	CLIP-seq
MIRT2591587	hsa-miR-548c-5p	CLIP-seq
MIRT2591588	hsa-miR-548d-5p	CLIP-seq
MIRT2591589	hsa-miR-548h	CLIP-seq
MIRT2591590	hsa-miR-548i	CLIP-seq
MIRT2591591	hsa-miR-548j	CLIP-seq
MIRT2591592	hsa-miR-548n	CLIP-seq
MIRT2591593	hsa-miR-548w	CLIP-seq
MIRT2591594	hsa-miR-548y	CLIP-seq
MIRT2591595	hsa-miR-559	CLIP-seq
MIRT2591596	hsa-miR-600	CLIP-seq
MIRT1225438	hsa-miR-625	CLIP-seq
MIRT2591597	hsa-miR-875-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10704444, 12096124, 14709540, 17408615, 18782765, 20531392, 20826455, 25416956, 29997244, 31467278, 32814053, 37398436
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IDA	9922452, 10704444, 20826455
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	9792670, 14709540
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	ISS
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0007031	Process	Peroxisome organization	IDA	9792670
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	ISS
GO:0007165	Process	Signal transduction	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016559	Process	Peroxisome fission	IBA
GO:0016559	Process	Peroxisome fission	IDA	9792670, 17408615, 20826455
GO:0016559	Process	Peroxisome fission	IEA
GO:0032991	Component	Protein-containing complex	IDA	17408615, 20826455
GO:0042802	Function	Identical protein binding	IPI	17408615
GO:0042803	Function	Protein homodimerization activity	IDA	20826455
GO:0044375	Process	Regulation of peroxisome size	IDA	20826455

Other IDs

• MIM: 603867
• HGNC: 8853
• e!Ensembl: ENSG00000131779

Protein

• UniProt ID: O96011
• Protein name: Peroxisomal membrane protein 11B (Peroxin-11B) (Peroxisomal biogenesis factor 11B) (Protein PEX11 homolog beta) (PEX11-beta)
• Protein function: Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05648	PEX11	1 → 251	Peroxisomal biogenesis factor 11 (PEX11)	Family

• Sequence:

  MDAWVRFSAQSQARERLCRAAQYACSLLGHALQRHGASPELQKQIRQLESHLSLGRKLLR
  LGNSADALESAKRAVHLSDVVLRFCITVSHLNRALYFACDNVLWAGKSGLAPRVDQEKWA
  QRSFRYYLFSLIMNLSRDAYEIRLLMEQESSACSRRLKGSGGGVPGGSETGGLGGPGTPG
  GGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDKLGLWRCGPGIVGLCGL
  VSSILSILTLIYPWLRLKP

• Sequence length: 259

Pathways

KEGG:

Peroxisome

Reactome:

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	Likely pathogenic	rs1553753994	RCV002281809	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 14B	Likely pathogenic; Pathogenic	rs782262926, rs1553754148, rs781984979, rs781939614, rs397515419	RCV002250187 RCV003340829 RCV000537988 RCV000525555 RCV000032935	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEX11B-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Radial aplasia-thrombocytopenia syndrome	Conflicting classifications of pathogenicity	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
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	Pubtator	28129423, 38423277	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	36582228	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	28129423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28129423, 38423277	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	38423277	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	38423277	Associate	★☆☆☆☆ 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
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
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28129423		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38423277	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
Lymphoma	Lymphoma	Pubtator	28731463	Associate	★☆☆☆☆ 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
Migraine Disorders	Migraine	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
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	38423277	Associate	★☆☆☆☆ 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
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 14B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	22581968, 24357685, 26233629, 28129423		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 14B	Zellweger Syndrome	BEFREE	28129423, 31724321		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 14B	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 14B	Zellweger Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	28129423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	28129423, 31724321, 38423277	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	39324181	Associate	★☆☆☆☆ 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
Sleep Apnea Syndromes	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	38423277	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	12024045		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	ORPHANET_DG	22581968		★☆☆☆☆ Found in Text Mining only
Zellweger syndrome	Zellweger Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only