PEX16 (peroxisomal biogenesis factor 16)

Gene

• Entrez ID: 9409
• Gene name: Peroxisomal biogenesis factor 16
• Gene symbol: PEX16
• Synonyms (NCBI Gene): PBD8A, PBD8B
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61752117	G>A	Pathogenic	Coding sequence variant, stop gained
rs144063598	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144897515	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, intron variant
rs146657010	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs149348130	C>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267608185	A>G	Pathogenic	Splice donor variant
rs397514472	T>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs567165324	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs754790425	GGC>-	Likely-pathogenic	Intron variant, inframe deletion, coding sequence variant
rs797045062	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, intron variant
rs1064794320	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1590793006	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022948	hsa-miR-124-3p	Microarray	18668037
MIRT713415	hsa-miR-4286	HITS-CLIP	19536157
MIRT713414	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT713413	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT713412	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713411	hsa-miR-1913	HITS-CLIP	19536157
MIRT713410	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713409	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713408	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713407	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713406	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT713415	hsa-miR-4286	HITS-CLIP	19536157
MIRT713414	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT713413	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT713412	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713411	hsa-miR-1913	HITS-CLIP	19536157
MIRT713410	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713409	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713408	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713407	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713406	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT1225696	hsa-miR-1226	CLIP-seq
MIRT1225697	hsa-miR-1285	CLIP-seq
MIRT1225698	hsa-miR-2278	CLIP-seq
MIRT1225699	hsa-miR-3157-5p	CLIP-seq
MIRT1225700	hsa-miR-3187-5p	CLIP-seq
MIRT1225701	hsa-miR-4640-5p	CLIP-seq
MIRT1225702	hsa-miR-4691-3p	CLIP-seq
MIRT1225703	hsa-miR-4726-5p	CLIP-seq
MIRT1225704	hsa-miR-4733-3p	CLIP-seq
MIRT1225705	hsa-miR-612	CLIP-seq
MIRT1225706	hsa-miR-885-3p	CLIP-seq
MIRT2065890	hsa-miR-135a	CLIP-seq
MIRT2065891	hsa-miR-135b	CLIP-seq
MIRT2065892	hsa-miR-3160-5p	CLIP-seq
MIRT2065893	hsa-miR-4315	CLIP-seq
MIRT2065894	hsa-miR-4648	CLIP-seq
MIRT2065895	hsa-miR-4652-3p	CLIP-seq
MIRT2065896	hsa-miR-4654	CLIP-seq
MIRT2065897	hsa-miR-4769-5p	CLIP-seq
MIRT2065898	hsa-miR-604	CLIP-seq
MIRT2065899	hsa-miR-646	CLIP-seq
MIRT2065900	hsa-miR-647	CLIP-seq
MIRT2293618	hsa-miR-106a	CLIP-seq
MIRT2293619	hsa-miR-106b	CLIP-seq
MIRT2293620	hsa-miR-17	CLIP-seq
MIRT2293621	hsa-miR-1909	CLIP-seq
MIRT2293622	hsa-miR-20a	CLIP-seq
MIRT2293623	hsa-miR-20b	CLIP-seq
MIRT2293624	hsa-miR-3158-3p	CLIP-seq
MIRT2293625	hsa-miR-3605-5p	CLIP-seq
MIRT2293626	hsa-miR-3609	CLIP-seq
MIRT2293627	hsa-miR-4796-3p	CLIP-seq
MIRT2293628	hsa-miR-513a-5p	CLIP-seq
MIRT2293629	hsa-miR-519d	CLIP-seq
MIRT2293630	hsa-miR-548ah	CLIP-seq
MIRT2293631	hsa-miR-760	CLIP-seq
MIRT2293632	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12096124, 14709540, 15713480, 16280322, 19114594, 20531392, 25416956, 29997244, 31467278, 32296183, 32814053, 33961781, 37398436, 38225382
GO:0005777	Component	Peroxisome	IDA	9837814, 15813749, 21768384
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	12223482
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	IMP	9922452
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	19479899, 21768384
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16717127
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IMP	9837814
GO:0007031	Process	Peroxisome organization	IBA
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	15813749, 19479899
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016557	Process	Peroxisome membrane biogenesis	IMP	9837814, 12223482
GO:0016558	Process	Protein import into peroxisome matrix	IMP	9922452
GO:0022615	Process	Protein to membrane docking	IDA	19114594
GO:0032581	Process	ER-dependent peroxisome organization	IDA	16717127
GO:0045046	Process	Protein import into peroxisome membrane	IMP	12223482
GO:0106101	Process	ER-dependent peroxisome localization	IDA	19479899

Other IDs

• MIM: 603360
• HGNC: 8857
• e!Ensembl: ENSG00000121680

Protein

• UniProt ID: Q9Y5Y5
• Protein name: Peroxisomal membrane protein PEX16 (Peroxin-16) (Peroxisomal biogenesis factor 16)
• Protein function: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08610	Pex16	9 → 329	Peroxisomal membrane protein (Pex16)	Family

• Sequence:

  MEKLRLLGLRYQEYVTRHPAATAQLETAVRGFSYLLAGRFADSHELSELVYSASNLLVLL
  NDGILRKELRKKLPVSLSQQKLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAK
  AVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPGNHEQSYVGKRSNRVVRTLQN
  TPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQ
  RSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRRTILLLYYLLRSPFYDRFSEARIL
  FLLQLLADHVPGVGLVTRPLMDYLPTWQKIYFYSWG

• Sequence length: 336

Pathways

KEGG:

Peroxisome

Reactome:

Class I peroxisomal membrane protein import

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2494905864	RCV005931350	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder	Likely pathogenic; Pathogenic	rs2134691627, rs2134699162, rs2134699707, rs2086772786, rs2134692559, rs2134695309, rs1218545995, rs2086807269, rs2134692847, rs1590798080, rs1355804755, rs778478085, rs1447178623, rs61752117, rs2494905042, rs2494905864, rs765872761, rs770726448, rs2494894653, rs2494908941, rs2494917564, rs2494892546, rs1244471687, rs2086814554, rs2494894758, rs530880623, rs1064794320, rs769772100	RCV001379404 RCV001385073 RCV001381763 RCV002021992 RCV001921085 RCV001962027 RCV001953436 RCV001946580 RCV002014184 RCV002018533 RCV002625702 RCV002775019 RCV002851073 RCV001851705 RCV003057397 RCV003530653 RCV003530837 RCV003530784 RCV003531377 RCV003529837 RCV003646350 RCV003646551 RCV003646682 RCV003859811 RCV003860307 RCV003873896 RCV002525833 RCV001236014	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 8A (Zellweger)	Pathogenic; Likely pathogenic	rs61752117, rs267608185, rs769772100	RCV000006837 RCV000006839 RCV003152611	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 8B	Likely pathogenic; Pathogenic	rs797045062, rs1064794320, rs1590793006, rs397514472, rs2494874800, rs769772100	RCV000191117 RCV003229529 RCV000023293 RCV000023295 RCV000023297 RCV000680059	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ATAXIA DUE TO PEX16 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 8A	—	CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO CTD, ClinVar, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder due to PEX16 defect	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEX16-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZELLWEGER SPECTRUM DISORDERS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29703930	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24727161		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	29280852	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29280852		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	16049284	Associate	★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	BEFREE	27679996		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Refsum disease	Refsum Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Infantile Refsum Disease (disorder)	Infantile Refsum Disease	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal adrenoleukodystrophy	Adrenoleukodystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	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
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	29703930	Associate	★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	20647552	Associate	★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)	Zellweger Syndrome	GENOMICS_ENGLAND_DG	11890679, 20647552, 24357685, 27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)	Zellweger Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)	Zellweger Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEROXISOME BIOGENESIS DISORDER 8B	Zellweger Syndrome	UNIPROT_DG	20647552		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 8B	Zellweger Syndrome	GENOMICS_ENGLAND_DG	24357685		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 8B	Zellweger Syndrome	CLINVAR_DG	26633545		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEROXISOME BIOGENESIS DISORDER 8B	Zellweger Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	11890679, 30078639, 9837814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Zellweger Syndrome	CTD_human_DG	11890679, 12223482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	20647552, 27679996	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
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	27679996	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ 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	11890679		★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	GENOMICS_ENGLAND_DG	20647552, 27604308		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	11890679, 25287621, 9837814, 9922452		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	LHGDN	11890679		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	11890679		★☆☆☆☆ Found in Text Mining only
Zellweger syndrome	Zellweger Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	GENOMICS_ENGLAND_DG	20647552, 27604308		★☆☆☆☆ Found in Text Mining only
Zellweger-Like Syndrome	Zellweger-Like Syndrome	CTD_human_DG	11890679		★☆☆☆☆ Found in Text Mining only