Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5190
Gene name Gene Name - the full gene name approved by the HGNC.	Peroxisomal biogenesis factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PEX6
Synonyms (NCBI Gene) Gene synonyms aliases	HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisoma

Show/Hide all(82)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34324426	C>T	Uncertain-significance, likely-pathogenic, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs61732159	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs61752140	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61753209	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61753211	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61753212	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61753219	G>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs61753224	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61753225	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61753229	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61753230	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs62641231	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs62653602	TCCAGTTCATCAAAGAAGAT>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs63749004	CCAGTCCGTCAGCG>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs112298166	C>G,T	Pathogenic	Splice donor variant
rs140769712	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs140806942	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs142899308	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs142958800	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs183449855	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs191944205	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs201306028	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs202049230	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs267608203	C>A	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs267608213	C>T	Pathogenic	Splice donor variant, intron variant
rs267608216	CCAGGCCT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs267608227	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs267608229	C>T	Pathogenic	Splice acceptor variant
rs267608240	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs267608241	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs267608242	T>C	Likely-pathogenic	Splice acceptor variant
rs267608247	C>A,G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267608249	T>C,G	Pathogenic	Splice acceptor variant
rs375288192	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs387906809	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398123303	CA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs398123305	->CT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs533766104	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs727504083	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs748779475	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs751900826	C>T	Likely-pathogenic	Splice donor variant
rs755716911	AC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs763459576	C>T	Likely-pathogenic	Splice donor variant
rs766483138	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs769896492	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs772869377	GAAAGTGCGTGG>-	Likely-pathogenic, uncertain-significance	Intron variant
rs781475201	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs786205580	C>A	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs863225083	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886037779	G>C	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs886037780	A>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886037781	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886037782	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886043908	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs886044436	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1010184002	C>T	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1244339215	C>T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1258472160	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1356280167	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1416001981	A>G	Uncertain-significance, likely-pathogenic	Intron variant, splice donor variant
rs1437291000	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1443107232	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1491384052	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554126798	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554126955	C>-,CC	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554126965	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554127383	A>-	Likely-pathogenic	Intron variant, splice donor variant
rs1554127415	T>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554127491	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1554127533	C>A	Likely-pathogenic	Splice acceptor variant
rs1554127968	C>T	Likely-pathogenic	Splice donor variant
rs1554128347	TGAATTCTGAGCTCTCCCATTTCCAGGGGGTCACAGCCAAGATTAAAAGCCAAAGTGGCAGGGACAAGCGCCAGTCCGTCAGCGAGGGGCTCTCCCAGCGGTCCAGAGCCGGGTCCCAGTCTATCAGAGAGGTCCCAGCGAGGTTCTAGGACCTGCACCCTAGCCAAGTGCGGCTGTGAAGTGTTCGATGACTCTCTGGCCTGGGCCACCCACACCCATTCGCCCTGGAAGAGGCCAAGGCCACGGAGACAGCTC	Pathogenic	Intron variant, non coding transcript variant, splice donor variant, coding sequence variant
rs1554128461	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554128476	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554128488	G>AT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554128501	TCTC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554128586	->CG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554128597	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, initiator codon variant
rs1561830903	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561831003	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1581760028	A>C,G	Likely-pathogenic	Intron variant, splice donor variant
rs1581760572	C>T	Likely-pathogenic	Non coding transcript variant, splice donor variant

Show/Hide all(101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051925	hsa-let-7b-5p	CLASH	23622248
MIRT051759	hsa-let-7c-5p	CLASH	23622248
MIRT045684	hsa-miR-149-5p	CLASH	23622248
MIRT491362	hsa-miR-1207-3p	PAR-CLIP	23592263
MIRT491361	hsa-miR-1292-3p	PAR-CLIP	23592263
MIRT491360	hsa-miR-4667-5p	PAR-CLIP	23592263
MIRT491359	hsa-miR-4700-5p	PAR-CLIP	23592263
MIRT491358	hsa-miR-8089	PAR-CLIP	23592263
MIRT491356	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT491357	hsa-miR-937-3p	PAR-CLIP	23592263
MIRT491362	hsa-miR-1207-3p	PAR-CLIP	23592263
MIRT491361	hsa-miR-1292-3p	PAR-CLIP	23592263
MIRT491360	hsa-miR-4667-5p	PAR-CLIP	23592263
MIRT491359	hsa-miR-4700-5p	PAR-CLIP	23592263
MIRT491358	hsa-miR-8089	PAR-CLIP	23592263
MIRT491356	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT491357	hsa-miR-937-3p	PAR-CLIP	23592263
MIRT1226034	hsa-miR-1321	CLIP-seq
MIRT1226035	hsa-miR-1976	CLIP-seq
MIRT1226036	hsa-miR-2682	CLIP-seq
MIRT1226037	hsa-miR-3155	CLIP-seq
MIRT1226038	hsa-miR-3155b	CLIP-seq
MIRT1226039	hsa-miR-3184	CLIP-seq
MIRT1226040	hsa-miR-3689d	CLIP-seq
MIRT1226041	hsa-miR-3690	CLIP-seq
MIRT1226042	hsa-miR-423-5p	CLIP-seq
MIRT1226043	hsa-miR-4254	CLIP-seq
MIRT1226044	hsa-miR-4292	CLIP-seq
MIRT1226045	hsa-miR-4419a	CLIP-seq
MIRT1226046	hsa-miR-449c	CLIP-seq
MIRT1226047	hsa-miR-450b-3p	CLIP-seq
MIRT1226048	hsa-miR-4510	CLIP-seq
MIRT1226049	hsa-miR-4688	CLIP-seq
MIRT1226050	hsa-miR-4713-3p	CLIP-seq
MIRT1226051	hsa-miR-4722-5p	CLIP-seq
MIRT1226052	hsa-miR-4739	CLIP-seq
MIRT1226053	hsa-miR-4756-5p	CLIP-seq
MIRT1226054	hsa-miR-4768-3p	CLIP-seq
MIRT1226055	hsa-miR-4772-5p	CLIP-seq
MIRT1226056	hsa-miR-484	CLIP-seq
MIRT1226057	hsa-miR-638	CLIP-seq
MIRT1226058	hsa-miR-769-3p	CLIP-seq
MIRT1226059	hsa-miR-940	CLIP-seq
MIRT1552244	hsa-miR-4293	CLIP-seq
MIRT1226034	hsa-miR-1321	CLIP-seq
MIRT1226035	hsa-miR-1976	CLIP-seq
MIRT2591734	hsa-miR-3150b-3p	CLIP-seq
MIRT2591735	hsa-miR-3620	CLIP-seq
MIRT1226040	hsa-miR-3689d	CLIP-seq
MIRT1226041	hsa-miR-3690	CLIP-seq
MIRT2591736	hsa-miR-3940-5p	CLIP-seq
MIRT2591737	hsa-miR-4252	CLIP-seq
MIRT1226043	hsa-miR-4254	CLIP-seq
MIRT1226044	hsa-miR-4292	CLIP-seq
MIRT1552244	hsa-miR-4293	CLIP-seq
MIRT1226045	hsa-miR-4419a	CLIP-seq
MIRT2591738	hsa-miR-4507	CLIP-seq
MIRT1226047	hsa-miR-450b-3p	CLIP-seq
MIRT1226048	hsa-miR-4510	CLIP-seq
MIRT2591739	hsa-miR-4689	CLIP-seq
MIRT1226050	hsa-miR-4713-3p	CLIP-seq
MIRT1226052	hsa-miR-4739	CLIP-seq
MIRT1226053	hsa-miR-4756-5p	CLIP-seq
MIRT2591740	hsa-miR-4757-5p	CLIP-seq
MIRT2591741	hsa-miR-4784	CLIP-seq
MIRT2591742	hsa-miR-507	CLIP-seq
MIRT2591743	hsa-miR-544b	CLIP-seq
MIRT2591744	hsa-miR-557	CLIP-seq
MIRT1226057	hsa-miR-638	CLIP-seq
MIRT1226058	hsa-miR-769-3p	CLIP-seq
MIRT2591745	hsa-miR-885-3p	CLIP-seq
MIRT2687673	hsa-miR-1233	CLIP-seq
MIRT2687674	hsa-miR-129-3p	CLIP-seq
MIRT1226034	hsa-miR-1321	CLIP-seq
MIRT1226035	hsa-miR-1976	CLIP-seq
MIRT2591734	hsa-miR-3150b-3p	CLIP-seq
MIRT2591735	hsa-miR-3620	CLIP-seq
MIRT1226040	hsa-miR-3689d	CLIP-seq
MIRT1226041	hsa-miR-3690	CLIP-seq
MIRT2591736	hsa-miR-3940-5p	CLIP-seq
MIRT2591737	hsa-miR-4252	CLIP-seq
MIRT1226043	hsa-miR-4254	CLIP-seq
MIRT1226044	hsa-miR-4292	CLIP-seq
MIRT1552244	hsa-miR-4293	CLIP-seq
MIRT1226045	hsa-miR-4419a	CLIP-seq
MIRT2591738	hsa-miR-4507	CLIP-seq
MIRT1226047	hsa-miR-450b-3p	CLIP-seq
MIRT1226048	hsa-miR-4510	CLIP-seq
MIRT2591739	hsa-miR-4689	CLIP-seq
MIRT1226050	hsa-miR-4713-3p	CLIP-seq
MIRT1226052	hsa-miR-4739	CLIP-seq
MIRT1226053	hsa-miR-4756-5p	CLIP-seq
MIRT2591740	hsa-miR-4757-5p	CLIP-seq
MIRT2591741	hsa-miR-4784	CLIP-seq
MIRT2591742	hsa-miR-507	CLIP-seq
MIRT2591743	hsa-miR-544b	CLIP-seq
MIRT2591744	hsa-miR-557	CLIP-seq
MIRT1226057	hsa-miR-638	CLIP-seq
MIRT2687675	hsa-miR-765	CLIP-seq
MIRT1226058	hsa-miR-769-3p	CLIP-seq
MIRT2591745	hsa-miR-885-3p	CLIP-seq

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	9588209, 16257970, 16854980
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	16854980
GO:0005737	Component	Cytoplasm	IDA	8670792
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	11439091, 16854980
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	21362118
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16854980
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IMP	16854980
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	8940266
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:0016561	Process	Protein import into peroxisome matrix, translocation	IMP	8670792
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16314507, 16854980, 19208625, 21362118, 29884772
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	8670792, 16854980
GO:0042995	Component	Cell projection	IEA
GO:0043335	Process	Protein unfolding	IBA
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0043335	Process	Protein unfolding	IDA	16854980, 29884772
GO:0044877	Function	Protein-containing complex binding	IDA	16854980
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0050821	Process	Protein stabilization	IMP	8670792
GO:0097733	Component	Photoreceptor cell cilium	IDA	26593283
GO:0097733	Component	Photoreceptor cell cilium	IEA
GO:0140036	Function	Ubiquitin-modified protein reader activity	IDA	19208625, 29884772
GO:0140318	Function	Protein transporter activity	IDA	16854980, 21362118, 29884772

MIM	HGNC	e!Ensembl
601498	8859	ENSG00000124587

Protein

UniProt ID

Q13608

Protein name

Peroxisomal ATPase PEX6 (EC 3.6.4.-) (Peroxin-6) (Peroxisomal biogenesis factor 6) (Peroxisomal-type ATPase 1) (Peroxisome assembly factor 2) (PAF-2)

Protein function

Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:16314507, PubMed:16854980, PubMed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	466 → 595	ATPase family associated with various cellular activities (AAA)	Domain
PF00004	AAA	740 → 872	ATPase family associated with various cellular activities (AAA)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments. {ECO:0000269|PubMed:26593283}.

Sequence

MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAGESPAGPALLVAALEGP
DAGTEEQGPGPPQLLVSRALLRLLALGSGAWVRARAVRRPPALGWALLGTSLGPGLGPRV
GPLLVRRGETLPVPGPRVLETRPALQGLLGPGTRLAVTELRGRARLCPESGDSSRPPPPP
VVSSFAVSGTVRRLQGVLGGTGDSLGVSRSCLRGLGLFQGEWVWVAQARESSNTSQPHLA
RVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPATLAFNLGCDPLEMGELRIQRYLEGS
IAPEDKGSCSLLPGPPFARELHIEIVSSPHYSTNGNYDGVLYRHFQIPRVVQEGDVLCVP
TIGQVEILEGSPEKLPRWREMFFKVKKTVGEAPDGPASAYLADTTHTSLYMVGSTLSPVP
WLPSEESTLWSSLSPPGLEALVSELCAVLKPRLQPGGALLTGTSSVLLRGPPGCGKTTVV
AAACSHLGLHLLKVPCSSLCAESSGAVETKLQAIFSRARRCRPAVLLLTAVDLLGRDRDG
LGEDARVMAVLRHLLLNEDPLNSCPPLMVVATTSRAQDLPADVQTAFPHELEVPALSEGQ
RLSILRALTAHLPLGQEVNLAQLARRCAGFVVGDLYALLTHSSRAACTRIKNSGLAGGLT
EEDEGELCAAGFPLLAEDFGQALEQLQTAHSQAVGAPKIPSVSWHDVGGLQEVKKEILET
IQLPLEHPELLSLGLRRSGLLLHGPPGTGKTLLAKAVATECSLTFLSVKGPELINMYVGQ
SEENVREVFARARAAAPCIIFFDELDSLAPSRGRSGDSGGVMDRVVSQLLAELDGLHSTQ
DVFVIGATNRPDLLDPALLRPGRFDKLVFVGANEDRASQLRVLSAITRKFKLEPSVSLVN
VLDCCPPQLTGADLYSLCSDAMTAALKRRVHDLEEGLEPGSSALMLTMEDLLQAAARLQP
SVSEQELLRYKRIQRKFAAC

Sequence length

980

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Peroxisomal protein import

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Heimler Syndrome	heimler syndrome 2	rs1554128461, rs1010184002, rs1443107232, rs1554128586, rs886037781, rs1561831003, rs1554126955, rs62641232, rs781475201, rs886037780, rs766483138, rs763459576, rs398123303, rs863225083, rs61753209 View all (23 more)	N/A
Zellweger Syndrome	Zellweger spectrum disorders, Peroxisome biogenesis disorder, peroxisome biogenesis disorder 4b, peroxisome biogenesis disorder 4a (zellweger), peroxisome biogenesis disorder 1a (zellweger)	rs62641232, rs1443107232, rs1554127491, rs1554128347, rs61753219, rs267608216, rs1561830903, rs1554126955, rs267608229, rs763459576, rs387906809, rs61753209, rs1554128501, rs766483138, rs398123303 View all (32 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cerebellar Ataxia	autosomal recessive cerebellar ataxia-blindness-deafness syndrome	N/A	N/A	GenCC
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Basal Cell	Associate	29967001
Carcinoma Endometrioid	Associate	29967001
Deaf Blind Disorders	Associate	32214787
Deafness enamel hypoplasia nail defects	Associate	26387595, 31831025, 40466212, 40725402
Dental Enamel Hypoplasia	Associate	32214787
Facial Dysmorphism with Multiple Malformations	Associate	39604887
Hearing Loss	Associate	32214787, 39604887
Hypersensitivity Delayed	Associate	32214787, 39604887
Lymphoma	Associate	34074205
Lymphoma Non Hodgkin	Associate	29967001
Melanoma	Associate	34074205
Nails Malformed	Associate	40466212
Neoplasms	Associate	28033303
Nephrolithiasis	Associate	32214787
Neurologic Manifestations	Associate	9671729
Peroxisome biogenesis disorders	Associate	16257970, 19105186, 32214787, 8670792
Prostatic Neoplasms	Associate	28033303
Refsum Disease Infantile	Associate	9671729
Retinal Dystrophies	Associate	31831025
Retinitis Pigmentosa	Associate	32214787, 40725402
Sepsis	Associate	33213396
Spinocerebellar Degenerations	Associate	26669662
Zellweger Syndrome	Associate	11873320, 19105186, 19142205, 22894767, 26387595, 29220678, 32214787, 33213396, 39604887, 8670792, 9671729

PEX6 (peroxisomal biogenesis factor 6)