PEX6 (peroxisomal biogenesis factor 6)

Gene

• Entrez ID: 5190
• Gene name: Peroxisomal biogenesis factor 6
• Gene symbol: PEX6
• Synonyms (NCBI Gene): HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 601498
• HGNC: 8859
• e!Ensembl: 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

Pathways

KEGG:

Peroxisome

Reactome:

Peroxisomal 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
Heimler syndrome 2	Likely pathogenic; Pathogenic	rs2114236937, rs267608223, rs2114242920, rs1388178333, rs1770400284, rs61753215, rs770055192, rs2114247458, rs754684285, rs2150239870, rs1408438094, rs375288192, rs2114241031, rs1364614470, rs398123305, rs267608219, rs2150236148, rs374549180, rs2481251449, rs61753210, rs786205580, rs267608241, rs2150239907, rs1769772582, rs745382616, rs2481210528, rs61753219, rs863225083, rs896144215, rs2481205811, rs2481277379, rs1770226537, rs61753224, rs267608216, rs886037781, rs886037780, rs112298166, rs886044436, rs2481195709, rs267608251, rs2481207964, rs2481196486, rs2481235015, rs1375371745, rs2481281348, rs2481283756, rs2481229568, rs61753223, rs2481217220, rs2150239329, rs2481281882, rs2481235367, rs1367344104, rs2481211868, rs1769988075, rs2481257723, rs2481257654, rs2481225707, rs1409234072, rs2481198115, rs2481210264, rs1160151083, rs2481234224, rs1287837850, rs2481199869, rs2481202893, rs1371143729, rs2481228800, rs2481216714, rs2481258611, rs2481202967, rs61753213, rs1212487109, rs1395477387, rs2481280811, rs2481208244, rs1241961364, rs1770433664, rs267608207, rs1258472160, rs763459576, rs267608227, rs1010184002, rs61753209, rs1554126965, rs751900826, rs267608229, rs1554128488, rs1554126955, rs61753229, rs1443107232, rs766483138, rs1554127415, rs1554127531, rs63749004, rs61753212, rs1554128461, rs1554128586, rs781475201, rs1561823098, rs62653602, rs1561831003, rs61753225, rs61752140, rs755716911, rs201306028, rs1581760572, rs1581760028, rs62641232, rs1478799269, rs61753231, rs398123303	RCV003473907 RCV005040235 RCV003473945 RCV003473933 RCV003473976 RCV005038178 RCV005038318 RCV003475092 RCV003475172 RCV005038378 RCV003475167 RCV003475125 RCV004571447 RCV005042576 RCV003475204 RCV003475132 RCV003475184 RCV005042690 RCV004572230 RCV003475484 RCV003475485 RCV003474921 RCV000763145 RCV004571349 RCV003475432 RCV003475446 RCV003475448 RCV000201297 RCV000201289 RCV003475460 RCV003475463 RCV003475468 RCV003475481 RCV000240689 RCV000240725 RCV000240675 RCV000240760 RCV003473057 RCV003475922 RCV003476825 RCV003476826 RCV003476827 RCV003476828 RCV003476829 RCV003476830 RCV003476831 RCV003476832 RCV003476833 RCV003476834 RCV003476835 RCV003476836 RCV003476837 RCV003476838 RCV003476839 RCV003476840 RCV003476841 RCV003476842 RCV003476843 RCV003476844 RCV003476845 RCV003476846 RCV003476847 RCV003476848 RCV003476849 RCV003476850 RCV003476851 RCV003476852 RCV003476853 RCV003476854 RCV003476855 RCV003476856 RCV003476857 RCV004574097 RCV005047756 RCV004574511 RCV004574513 RCV004574514 RCV004574515 RCV004574516 RCV004574517 RCV003476210 RCV003471937 RCV003471938 RCV003471954 RCV003471955 RCV003472051 RCV004568548 RCV003472068 RCV003472160 RCV003472106 RCV003472131 RCV003472076 RCV003472104 RCV005046881 RCV001268931 RCV003472136 RCV004568560 RCV003472119 RCV003472151 RCV003472225 RCV005034304 RCV003472271 RCV000766234 RCV003472310 RCV003472309 RCV003472314 RCV003472404 RCV003472350 RCV003473522 RCV000991437 RCV002479299 RCV003473766 RCV004796379 RCV005040100 RCV003473843 RCV003474676	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder	Pathogenic; Likely pathogenic	rs764227040, rs2114236937, rs267608223, rs1769988075, rs2114242547, rs1769875600, rs2114242920, rs1200299979, rs2114247385, rs2114248084, rs1388178333, rs1770400284, rs61753215, rs779526175, rs2150240574, rs770055192, rs2114247458, rs754684285, rs2114236281, rs2150239870, rs2114238399, rs2114242538, rs2114242907, rs1408438094, rs375288192, rs2114248372, rs2114236416, rs2114241031, rs267608218, rs1364614470, rs2114248288, rs267608205, rs367543282, rs398123305, rs2150239907, rs2114238521, rs267608219, rs2114244815, rs2150234919, rs2150240582, rs2114247797, rs2150239689, rs1189098622, rs1197432552, rs2150236148, rs2114237186, rs2150239487, rs374549180, rs1554128597, rs61753210, rs267608241, rs2481236055, rs2481228543, rs2481200159, rs2481258763, rs2481228587, rs1769772582, rs2481277519, rs2481258885, rs745382616, rs2481233298, rs2481277016, rs2481210528, rs2481280407, rs61753219, rs863225083, rs896144215, rs1554127968, rs2481205811, rs2481277379, rs2481200515, rs2481277081, rs2481232940, rs1183167782, rs2481217571, rs2481208968, rs2481277530, rs1770226537, rs61753224, rs267608216, rs267608213, rs112298166, rs886044436, rs2481281348, rs2481257723, rs1381041583, rs2481202821, rs2481281490, rs2481276451, rs2481224877, rs267608234, rs267608208, rs61753213, rs2481212042, rs762257184, rs2481202424, rs2481203023, rs2481279008, rs2481276205, rs2481282209, rs2481207693, rs2481217985, rs2481279237, rs1212487109, rs2481258932, rs2481283458, rs2481275322, rs2481277352, rs2481273398, rs2481216669, rs2481207905, rs2481210117, rs1227840515, rs2481225669, rs2481199616, rs897158533, rs1258472160, rs61753230, rs1554127491, rs763459576, rs267608227, rs1010184002, rs61753209, rs1554127533, rs267608242, rs1554127383, rs267608229, rs1554128501, rs1491384052, rs61753229, rs1443107232, rs766483138, rs1554127415, rs1554127531, rs63749004, rs61753212, rs1554128461, rs781475201, rs1561823098, rs267608249, rs62653602, rs61753225, rs755716911, rs1554126955, rs201306028, rs1581760572, rs61753211, rs62641232, rs1178535907, rs1769818844, rs267608212, rs1478799269, rs267608202, rs267608207, rs61753231, rs398123303	RCV001318814 RCV001377910 RCV001377541 RCV001378049 RCV001389528 RCV001385401 RCV001383499 RCV001386748 RCV001386346 RCV001383511 RCV001381534 RCV001387078 RCV001381388 RCV001388881 RCV001386566 RCV002034573 RCV002541207 RCV001919227 RCV001880629 RCV001876791 RCV001880559 RCV001924814 RCV001999915 RCV001947754 RCV001932286 RCV001946777 RCV001905894 RCV001905110 RCV001958910 RCV001988125 RCV001921537 RCV002007344 RCV002035357 RCV002035358 RCV002037741 RCV002035763 RCV001870863 RCV001942254 RCV001941955 RCV001957879 RCV002009367 RCV001946874 RCV001925730 RCV001949541 RCV001939115 RCV002029320 RCV001930915 RCV002021081 RCV001886330 RCV003037154 RCV003060040 RCV000802432 RCV002510467 RCV002825431 RCV002832807 RCV002819695 RCV002839447 RCV002861905 RCV002838233 RCV002880725 RCV002889547 RCV002876925 RCV002871835 RCV002866915 RCV002877342 RCV002918806 RCV001193476 RCV001853225 RCV003007712 RCV002994730 RCV003005564 RCV003025535 RCV003014547 RCV003029266 RCV003017460 RCV003034649 RCV003037955 RCV003035035 RCV003052236 RCV003064009 RCV001795343 RCV000781716 RCV001239904 RCV002512914 RCV002518133 RCV005100206 RCV003645963 RCV003530454 RCV003530508 RCV003530333 RCV003530468 RCV003531047 RCV003530931 RCV003530932 RCV003530933 RCV003531056 RCV003531200 RCV003531165 RCV003529883 RCV003529826 RCV003529919 RCV003529843 RCV003646260 RCV003646315 RCV003646531 RCV003646476 RCV003646490 RCV003646506 RCV003646647 RCV003646537 RCV003646566 RCV003646744 RCV003646685 RCV003646739 RCV003646711 RCV003646713 RCV003814308 RCV003829623 RCV003824599 RCV001231241 RCV000802431 RCV000589755 RCV000588951 RCV000586808 RCV001384063 RCV001384062 RCV001861831 RCV002530706 RCV003645866 RCV001280661 RCV001060445 RCV000780593 RCV001379858 RCV001043607 RCV001052376 RCV001868229 RCV004586868 RCV001861805 RCV001193475 RCV001868237 RCV000698404 RCV000694665 RCV000697638 RCV001243165 RCV002535657 RCV000780592 RCV000809512 RCV000796889 RCV000826126 RCV002549683 RCV001049060 RCV001038583 RCV001212521 RCV001210412 RCV001215764 RCV001226510 RCV001231570 RCV001236261 RCV001246113 RCV002570424 RCV001309121 RCV001854383 RCV001212193	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 1A (Zellweger)	Likely pathogenic; Pathogenic	rs61753229	RCV000857244	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 2B	Likely pathogenic	rs2481235131	RCV003128093	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 4A (Zellweger)	Likely pathogenic; Pathogenic	rs267608223, rs2114242920, rs61753215, rs770055192, rs2114247458, rs2150239870, rs2114236416, rs1364614470, rs267608219, rs374549180, rs267608243, rs2150236110, rs2481202482, rs2481205386, rs2481251449, rs2481210846, rs2481205819, rs2481258347, rs2481208048, rs2481251176, rs2481224131, rs2481199848, rs2481208620, rs2481233656, rs1435802052, rs2481207616, rs2481208712, rs2481229205, rs2481251243, rs2481210415, rs2481274937, rs2481207781, rs2481198087, rs61753210, rs267608241, rs61753219, rs863225083, rs61753224, rs267608216, rs267608213, rs112298166, rs62641231, rs2481208884, rs2481278028, rs61753223, rs1212487109, rs1769993888, rs1258472160, rs61753230, rs763459576, rs267608227, rs61753209, rs751900826, rs1554126798, rs1554127389, rs1554127533, rs267608242, rs1554127383, rs267608229, rs1554128501, rs1491384052, rs1554128488, rs1356280167, rs1554126955, rs61753229, rs1443107232, rs766483138, rs1554127415, rs1554127531, rs1554127968, rs63749004, rs61753212, rs1554128461, rs1554128476, rs1554128586, rs1554128597, rs781475201, rs1561823098, rs62653602, rs1561830903, rs61753225, rs61752140, rs61753211, rs62641232, rs1770436260, rs1769818844, rs267608212, rs1478799269, rs773056086, rs267608207, rs61753231, rs1769688206, rs398123303	RCV005040235 RCV005038187 RCV005038178 RCV005038318 RCV005038322 RCV005038378 RCV005924008 RCV005042576 RCV003339778 RCV005042690 RCV002277753 RCV002277754 RCV002306540 RCV002309856 RCV002309900 RCV002307904 RCV002307981 RCV002308105 RCV002308123 RCV002308241 RCV002308270 RCV002308289 RCV002309105 RCV002309255 RCV002309320 RCV002309440 RCV002309468 RCV002307051 RCV002307097 RCV002307192 RCV002310077 RCV002310209 RCV002468761 RCV005045178 RCV000763145 RCV000666553 RCV000674727 RCV002500674 RCV000410284 RCV000008592 RCV000008594 RCV000008596 RCV003219140 RCV003314428 RCV005047603 RCV005047756 RCV004576160 RCV005034056 RCV002248804 RCV005034154 RCV003336085 RCV000669270 RCV000672043 RCV000666131 RCV000674507 RCV000674014 RCV000667079 RCV000674127 RCV000665084 RCV000671385 RCV000665973 RCV000673737 RCV000669517 RCV000668786 RCV000670936 RCV000666129 RCV000668636 RCV000669019 RCV000672797 RCV000669488 RCV000671267 RCV000673874 RCV000669913 RCV000666808 RCV000672977 RCV000670830 RCV005034311 RCV004720277 RCV002279940 RCV000758199 RCV000779505 RCV000778791 RCV000987703 RCV002479299 RCV001197229 RCV004789478 RCV004789476 RCV004796379 RCV001250079 RCV001250531 RCV005038022 RCV005250173 RCV005042192	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 4B	Likely pathogenic; Pathogenic	rs267608223, rs2114242920, rs61753215, rs770055192, rs2114247458, rs2150239870, rs1364614470, rs267608219, rs374549180, rs61753210, rs267608241, rs61753219, rs863225083, rs61753224, rs267608216, rs1554128347, rs61753223, rs1212487109, rs2481281479, rs387906809, rs1258472160, rs763459576, rs267608227, rs1010184002, rs61753209, rs751900826, rs1554126798, rs1554127389, rs1554127533, rs267608242, rs1554127383, rs267608229, rs1554128501, rs1491384052, rs1554128488, rs1356280167, rs1554126955, rs61753229, rs1443107232, rs766483138, rs1554127415, rs1554127531, rs1554127968, rs63749004, rs61753212, rs1554128461, rs1554128476, rs1554128586, rs1554128597, rs781475201, rs1561823098, rs62653602, rs61752140, rs62641232, rs1478799269, rs773056086, rs267608207, rs61753231, rs398123303	RCV005040235 RCV005038187 RCV005038178 RCV005038318 RCV005038322 RCV005038378 RCV005042576 RCV005038401 RCV005042690 RCV005045178 RCV000667668 RCV000666553 RCV000674727 RCV002500674 RCV000411317 RCV000008598 RCV005047603 RCV005047756 RCV003989996 RCV000023114 RCV005034056 RCV005034154 RCV000665650 RCV000735223 RCV000669270 RCV000672043 RCV000666131 RCV000674507 RCV000674014 RCV000667079 RCV000674127 RCV000665084 RCV000671385 RCV000665973 RCV000673737 RCV000669517 RCV000668786 RCV000670936 RCV000666129 RCV000668636 RCV000669019 RCV000672797 RCV000669488 RCV000671267 RCV000673874 RCV000669913 RCV000666808 RCV000672977 RCV000670830 RCV005034311 RCV005034304 RCV005036073 RCV005036108 RCV002479299 RCV004796379 RCV001250079 RCV005040100 RCV005038022 RCV005042192	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEX6-related disorder	Likely pathogenic; Pathogenic	rs61753219, rs896144215, rs267608216, rs1160151083, rs1258472160, rs61753209, rs61753225, rs61752140, rs61753231, rs398123303	RCV004737319 RCV004725450 RCV004547505 RCV004738744 RCV004551655 RCV004737864 RCV004549856 RCV004549851 RCV001265583 RCV004737183	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Zellweger spectrum disorders	Pathogenic; Likely pathogenic	rs764227040, rs267608241, rs61753219, rs267608216, rs267608213, rs2481202893, rs1258472160, rs763459576, rs267608227, rs61753209, rs1443107232, rs61753212, rs61753225, rs62641232, rs61753231	RCV001830322 RCV001826877 RCV001276623 RCV001276616 RCV005606632 RCV005608970 RCV001276617 RCV001834834 RCV001834835 RCV001834884 RCV001276614 RCV001830460 RCV001825519 RCV001274622 RCV001830065	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM DEMYELINATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNS demyelination	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS ENAMEL HYPOPLASIA NAIL DEFECTS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME	—	Orphanet	★★☆☆☆ 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
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEIMLER SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megalencephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 4A	—	CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; -; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	25079577		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral microphthalmos	Microphthalmos	CLINVAR_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
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	29967001	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29967001	Associate	★☆☆☆☆ 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
Congenital small ears	Microtia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture of hamstring(s)	Contracture Of Hamstring	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness enamel hypoplasia nail defects	Deafness Enamel Hypoplasia Nail Defects	ORPHANET_DG	26387595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness enamel hypoplasia nail defects	Deafness enamel hypoplasia nail defects	Pubtator	26387595, 31831025, 40466212, 40725402	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness enamel hypoplasia nail defects	Deafness Enamel Hypoplasia Nail Defects	BEFREE	29676688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness enamel hypoplasia nail defects	Deafness Enamel Hypoplasia Nail Defects	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness-enamel hypoplasia-nail defects syndrome	Deafness Enamel Hypoplasia Nail Defects	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	26593283		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	32214787	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11873320, 15098231, 15098234, 17055079, 22871920, 26387595, 26593283, 8670792		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	39604887	Associate	★☆☆☆☆ 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			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing Loss	Hearing loss	Pubtator	32214787, 39604887	Associate	★☆☆☆☆ Found in Text Mining only
HEIMLER SYNDROME 2	Heimler Syndrome	CLINVAR_DG	11873320, 19105186, 19142205, 19877282, 21031596, 25079577, 26387595, 27302843		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEIMLER SYNDROME 2	Heimler Syndrome	GENOMICS_ENGLAND_DG	16530715		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HEIMLER SYNDROME 2	Heimler Syndrome	UNIPROT_DG	19105186, 26387595, 27302843		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	32214787, 39604887	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcification of dental enamel	Hypocalcification of dental enamel	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	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	9671729		★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34074205	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
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28033303		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34074205	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26593283		★☆☆☆☆ 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	CLINVAR_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
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	32214787	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9671729		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25079577		★☆☆☆☆ 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
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG	10408779, 11004248, 11355018, 15542397, 15858711, 19105186, 19142205, 19877282, 22894767, 24016303, 25079577, 25525159, 26287655, 26387595, 26700162, 26943801, 27302843, 8670792, 8940266		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	10408779, 16530715, 24357685, 25655951, 27604308, 8940266		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)	Zellweger Syndrome	UNIPROT_DG	10408779, 19105186, 21937992, 26593283, 8670792		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 4B	Zellweger Syndrome	CLINVAR_DG	10408779, 11355018, 15542397, 15858711, 19105186, 19142205, 19877282, 22894767, 24016303, 25079577, 25525159, 26275793, 26387595, 26700162, 8670792, 8940266		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 4B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	10408779, 16530715, 24357685, 25655951, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 4B	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	10408779, 11004248, 11330042, 11355018, 15858711, 31555682, 8670792, 8940266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CTD_human_DG	10408779, 8940266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CLINVAR_DG	11355018, 15542397, 19105186, 19142205, 19877282, 21031596, 21520333, 24016303, 26700162, 27302843, 29220678, 8670792, 8940266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	16257970, 19105186, 32214787, 8670792	Associate	★★☆☆☆ 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
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28033303		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28033303	Associate	★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	32214787, 40725402	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Secondary microcephaly	Microcephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	33213396	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3	Spinocerebellar Ataxia	ORPHANET_DG	26669662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28430524		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	11873320		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	LHGDN	11873320		★☆☆☆☆ 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	10408779, 8940266		★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	19877282, 27230853, 29220678, 9671729		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	10408779, 11330042, 22894767, 29047053, 8940266, 9671729		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	10408779, 8940266		★☆☆☆☆ 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	10408779, 8940266		★☆☆☆☆ Found in Text Mining only