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	5191
Gene name	Peroxisomal biogenesis factor 7
Gene symbol	PEX7
Synonyms (NCBI Gene)	PBD9BPTS2RRCDP1RD
Chromosome	6
Chromosome location	6q23.3
Summary	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multipl

Show/Hide all (58)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805137	T>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, stop lost, terminator codon variant
rs61753233	A>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs61753236	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs61753237	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs61753238	C>A,G,T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs61753245	G>A	Pathogenic-likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs61753248	T>-	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs62636519	->TGCGGTG	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs62653604	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs62653611	A>G	Pathogenic	Coding sequence variant, missense variant
rs63535662	GGGACGCC>-,GGGACGCCGGGACGCC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs113268723	A>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs121909151	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909152	G>A	Pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909153	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs121909154	T>G	Pathogenic-likely-pathogenic, pathogenic	Intron variant, coding sequence variant, stop gained
rs148591292	G>C	Pathogenic	Splice donor variant
rs191969418	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs199552223	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs199648976	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs267608252	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs267608253	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs267608254	G>A,C	Pathogenic	Splice donor variant
rs267608255	A>G	Uncertain-significance, pathogenic, likely-pathogenic	Intron variant
rs267608257	->CAA	Likely-pathogenic	Coding sequence variant, inframe insertion
rs374668045	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs763514968	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs764346452	G>A,C,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs764924345	C>T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs769137963	G>A,T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained, missense variant
rs774131564	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs778862698	A>G,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs886061118	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs936175997	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs1057516574	->T	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516737	C>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, stop gained
rs1057516824	GGCCTCTTGCT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516827	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516882	C>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, stop gained
rs1057516961	ATGCTGCGGACGCCGGGACGCCACGG>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1057516989	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1057517059	T>C	Likely-pathogenic	Splice donor variant
rs1057517257	AGGAGGGTGAAAGTAAGTTTTCATCTTTT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1057517339	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1131691868	G>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1190462422	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1464766327	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554328790	A>G	Likely-pathogenic	Splice acceptor variant
rs1554328952	A>G	Likely-pathogenic	Splice acceptor variant
rs1554331461	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554333636	C>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554333880	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1554335926	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554335937	GGTT>-	Likely-pathogenic	Coding sequence variant, stop gained, frameshift variant
rs1582732852	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582744649	AACCAGAGGTGAACAGCTTGTGGTGTCTGGCTCATGGGATCAAACTGTCAAATTGGTATGTTAGCATTATTGTATTCAAAAACGAATATTCCCTTCTCTAGAGCTTCCACTAAATTTTCTTCTCTTTTTCCAACATACTTCTGTAGCTCTATGATTCGACAGCTGAGCTTTCTTTTAAAAAAAAAATTAAAACACTTATTAGAACTTAAAATTTTCTAATCTTTTGGCTGTGAACTAATAGTTAGCTCAGCATTA	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1582757650	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1582760004	->T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT543256	hsa-miR-548n	PAR-CLIP	21572407
MIRT543255	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT543254	hsa-miR-548ab	PAR-CLIP	21572407
MIRT543253	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT543252	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT543251	hsa-miR-548ak	PAR-CLIP	21572407
MIRT543250	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT543249	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT543248	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT543247	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT543246	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT543245	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT543244	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT543243	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT543242	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT543241	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT543240	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT543239	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT543238	hsa-miR-548i	PAR-CLIP	21572407
MIRT543237	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT543236	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT543235	hsa-miR-548w	PAR-CLIP	21572407
MIRT543234	hsa-miR-548y	PAR-CLIP	21572407
MIRT543233	hsa-miR-559	PAR-CLIP	21572407
MIRT543232	hsa-miR-4263	PAR-CLIP	21572407
MIRT543231	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT543256	hsa-miR-548n	PAR-CLIP	21572407
MIRT543255	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT543254	hsa-miR-548ab	PAR-CLIP	21572407
MIRT543253	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT543252	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT543251	hsa-miR-548ak	PAR-CLIP	21572407
MIRT543250	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT543249	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT543248	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT543247	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT543246	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT543245	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT543244	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT543243	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT543242	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT543241	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT543240	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT543239	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT543238	hsa-miR-548i	PAR-CLIP	21572407
MIRT543237	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT543236	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT543235	hsa-miR-548w	PAR-CLIP	21572407
MIRT543234	hsa-miR-548y	PAR-CLIP	21572407
MIRT543233	hsa-miR-559	PAR-CLIP	21572407
MIRT543232	hsa-miR-4263	PAR-CLIP	21572407
MIRT543231	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT1226060	hsa-miR-3074-3p	CLIP-seq
MIRT1226061	hsa-miR-34c-3p	CLIP-seq
MIRT1226062	hsa-miR-3646	CLIP-seq
MIRT1226063	hsa-miR-3662	CLIP-seq
MIRT1226064	hsa-miR-548c-3p	CLIP-seq
MIRT2293724	hsa-miR-3924	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0005053	Function	Peroxisome matrix targeting signal-2 binding	IBA
GO:0005053	Function	Peroxisome matrix targeting signal-2 binding	IDA	9090381, 9090383, 11931631, 22057399, 25538232
GO:0005053	Function	Peroxisome matrix targeting signal-2 binding	IEA
GO:0005515	Function	Protein binding	IPI	11546814, 25538232, 28514442, 30204880, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	9090382
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005782	Component	Peroxisomal matrix	IBA
GO:0005782	Component	Peroxisomal matrix	IDA	11546814, 25538232
GO:0005782	Component	Peroxisomal matrix	IDA	11931631
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	25538232
GO:0005829	Component	Cytosol	IDA	11931631
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0007031	Process	Peroxisome organization	IMP	10022913
GO:0008611	Process	Ether lipid biosynthetic process	IMP	9090383, 12522768
GO:0015031	Process	Protein transport	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IBA
GO:0016558	Process	Protein import into peroxisome matrix	IDA	9090381
GO:0016558	Process	Protein import into peroxisome matrix	IDA	11546814, 22057399, 25538232
GO:0016558	Process	Protein import into peroxisome matrix	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IMP	12522768
GO:0019899	Function	Enzyme binding	IPI	11931631
GO:0042803	Function	Protein homodimerization activity	IDA	11931631

MIM	HGNC	e!Ensembl
601757	8860	ENSG00000112357

O00628

Protein name

Peroxisomal targeting signal 2 receptor (PTS2 receptor) (Peroxin-7)

Protein function

Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381). Specifically binds to cargo proteins containing a PTS2 p

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	58 → 96	WD domain, G-beta repeat	Repeat
PF00400	WD40	101 → 141	WD domain, G-beta repeat	Repeat
PF00400	WD40	145 → 184	WD domain, G-beta repeat	Repeat
PF00400	WD40	232 → 271	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:9090381). Highest expression in pancreas, skeletal muscle and heart (PubMed:9090381). {ECO:0000269|PubMed:9090381}.

Sequence

MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRL
FRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWS
QTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTL
RIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLG
HTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPT
QVADCSWDETIKIYDPACLTIPA

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Peroxisomal 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 (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic	rs2115131765	RCV001814330	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic; Pathogenic	rs763514968	RCV002278634	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata	Likely pathogenic	rs2115216571	RCV001420996	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs780751870	RCV005925481	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs778862698	RCV005900634	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs267608256	RCV005931309	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder	Pathogenic	rs1774596232	RCV005637008	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 9B	Likely pathogenic; Pathogenic	rs2115129048, rs1774102216, rs2115170460, rs2115171634, rs2115273041, rs2115170536, rs1173171051, rs2115122515, rs774676095, rs2115171791, rs2115122957, rs2115216632, rs780751870, rs61753240, rs267608254 View all (67 more)	RCV001379182 RCV001380524 RCV001388002 RCV001389731 RCV001386552 View all (79 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEX7-related disorder	Likely pathogenic; Pathogenic	rs1185311207, rs1805137, rs121909151, rs148591292, rs61753238, rs1774594545	RCV004733521 RCV000352824 RCV004732537 RCV000388756 RCV000324320 RCV004723323 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Phytanic acid storage disease	Likely pathogenic; Pathogenic	rs267608254, rs1805137, rs121909151, rs61753238, rs763514968, rs267608252	RCV002485052 RCV005394139 RCV002504768 RCV000763558 RCV002502423 RCV000032114 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Pathogenic	rs1805137	RCV006253453	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhizomelic chondrodysplasia punctata	Likely pathogenic; Pathogenic	rs2115170536, rs121909151, rs121909152, rs121909153, rs148591292, rs121909154, rs61753238, rs62636519, rs763514968, rs61753248, rs267608254	RCV005606974 RCV001831555 RCV001831556 RCV001826452 RCV001027954 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhizomelic chondrodysplasia punctata type 1	Pathogenic; Likely pathogenic	rs1456007349, rs2115170536, rs773406384, rs1478244495, rs2548072230, rs2548068762, rs2548095379, rs2548082672, rs2548072023, rs2548095371, rs2548095308, rs2548068920, rs2548072160, rs267608254, rs764346452 View all (43 more)	RCV001822980 RCV001825096 RCV002271879 RCV002306468 RCV002306477 View all (55 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

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.
ADULT REFSUM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA PUNCTATA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (80)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	BEFREE	10527683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	30747064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	12522768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22378669, 23352163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	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
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	BEFREE	9090383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia Punctata Rhizomelic	Chondrodysplasia	Pubtator	12522768, 25439727, 34110102, 34229749, 8670791, 9472033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	BEFREE	10083738, 10227689, 10527683, 10673331, 11781871, 12054588, 12325024, 12522768, 17055079, 20145307, 20583171, 22008564, 23357221, 24989250, 25800479, 27616591, 9090381, 9090382 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	LHGDN	12325024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	CTD_human_DG	9090381		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18327563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	BEFREE	10527683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22378669		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mental Retardation	Mental retardation	BEFREE	22378669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia Degenerative	Myopia	Pubtator	30747064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	12522768, 8670791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome Biogenesis Disorder, Complementation Group 11	Zellweger Syndrome	CLINVAR_DG	10083738, 11756410, 11781871, 12325024, 12522768, 21990100, 22008564, 23572185, 25800479, 9090381, 9090382, 9090383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome Biogenesis Disorder, Complementation Group R	Zellweger Syndrome	CLINVAR_DG	10083738, 11756410, 11781871, 12325024, 12522768, 21990100, 22008564, 23572185, 25800479, 9090381, 9090382, 9090383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	10673331, 12325024, 17055079, 21465523, 9090381		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	22378669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	12522768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum Disease	GENOMICS_ENGLAND_DG	12325024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum Disease	BEFREE	12522768, 14974078, 17325280, 22378669, 9326939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum Disease	LHGDN	12522768, 14713215, 14974078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum Disease	CTD_human_DG	12522768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum disease	Pubtator	12522768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum disease	Refsum Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum Disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease, Adult, 2	Refsum Disease	CLINVAR_DG	10083738, 11756410, 11781871, 12325024, 12522768, 21990100, 22008564, 23572185, 25800479, 9090381, 9090382, 9090383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease, Adult, 2	Refsum Disease	UNIPROT_DG	12522768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease, Adult, 2	Refsum Disease	GENOMICS_ENGLAND_DG	24357685, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease, Adult, 2	Refsum Disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency	Refsum Disease	CTD_human_DG	12522768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelic chondrodysplasia punctata type 1	Rhizomelic chondrodysplasia punctata	Pubtator	12522768, 25800479	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhizomelic chondrodysplasia punctata type 1	Rhizomelic Chondrodysplasia Punctata	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	CLINVAR_DG	10083738, 10673331, 11756410, 11781871, 12325024, 12522768, 14974078, 17325280, 21465523, 22057399, 23352163, 23572185, 25851898, 26408048, 26587300, 9090381, 9090382, 9090383 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	GENOMICS_ENGLAND_DG	10083738, 12325024, 27604308, 7719337		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	BEFREE	11781871, 12522768, 21465523, 22378669, 23357221, 24989250, 26220973, 28742517		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	CTD_human_DG	11781871, 12522768		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	ORPHANET_DG	21990100		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	UNIPROT_DG	9090381		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	26220973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	10527683		★★★★★ ★☆☆☆☆ Found in Text Mining only

PEX7 (peroxisomal biogenesis factor 7)