PORCN (porcupine O-acyltransferase)

Gene

• Entrez ID: 64840
• Gene name: Porcupine O-acyltransferase
• Gene symbol: PORCN
• Synonyms (NCBI Gene): DHOF, FODH, MG61, PORC, PPN
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852218	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852219	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606973	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs387906723	G>A	Pathogenic	Missense variant, coding sequence variant
rs398124617	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776737	->CCTGGCTTTTATC	Pathogenic	Frameshift variant, coding sequence variant
rs1057517951	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057519006	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524593	A>C	Pathogenic	Splice acceptor variant
rs1064795419	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307706	->TGG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1114167283	C>T	Pathogenic	Coding sequence variant, stop gained
rs1556974682	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556974804	CGGTGTCCAAGCCACTGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1556975151	T>A	Pathogenic	Splice donor variant
rs1569477854	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1602070472	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602070594	G>A	Likely-pathogenic	Splice donor variant
rs1602078393	T>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023034	hsa-miR-124-3p	Microarray	18668037
MIRT529240	hsa-miR-3650	PAR-CLIP	22012620
MIRT529239	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT529238	hsa-miR-8070	PAR-CLIP	22012620
MIRT529237	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	PAR-CLIP	22012620
MIRT529235	hsa-miR-2113	PAR-CLIP	22012620
MIRT529234	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT529233	hsa-miR-4455	PAR-CLIP	22012620
MIRT529232	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	HITS-CLIP	27418678
MIRT529235	hsa-miR-2113	HITS-CLIP	27418678
MIRT529233	hsa-miR-4455	HITS-CLIP	27418678
MIRT529234	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT529232	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT529237	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT529239	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT529240	hsa-miR-3650	PAR-CLIP	22012620
MIRT529239	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT529238	hsa-miR-8070	PAR-CLIP	22012620
MIRT529237	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	PAR-CLIP	22012620
MIRT529235	hsa-miR-2113	PAR-CLIP	22012620
MIRT529234	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT529233	hsa-miR-4455	PAR-CLIP	22012620
MIRT529232	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq
MIRT2597586	hsa-miR-1275	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2597587	hsa-miR-2392	CLIP-seq
MIRT2597588	hsa-miR-3147	CLIP-seq
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT2597589	hsa-miR-4425	CLIP-seq
MIRT2597590	hsa-miR-4534	CLIP-seq
MIRT2597591	hsa-miR-4665-5p	CLIP-seq
MIRT2597592	hsa-miR-4802-5p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq
MIRT2597586	hsa-miR-1275	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2597587	hsa-miR-2392	CLIP-seq
MIRT2597588	hsa-miR-3147	CLIP-seq
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT2597589	hsa-miR-4425	CLIP-seq
MIRT2597590	hsa-miR-4534	CLIP-seq
MIRT2597591	hsa-miR-4665-5p	CLIP-seq
MIRT2597592	hsa-miR-4802-5p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006497	Process	Protein lipidation	ISS
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0030258	Process	Lipid modification	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0045234	Process	Protein palmitoleylation	ISS
GO:0061355	Process	Wnt protein secretion	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:1990698	Function	Palmitoleoyltransferase activity	IBA
GO:1990698	Function	Palmitoleoyltransferase activity	IEA
GO:1990698	Function	Palmitoleoyltransferase activity	ISS

Other IDs

• MIM: 300651
• HGNC: 17652
• e!Ensembl: ENSG00000102312

Protein

• UniProt ID: Q9H237
• Protein name: Protein-serine O-palmitoleoyltransferase porcupine (EC 2.3.1.250) (Protein MG61)
• Protein function: Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1(9Z)), to Wnt proteins. Serine palmitoleoylation of WNT
• PDB: 7URA, 7URC, 7URD, 7URE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03062	MBOAT	60 → 371	MBOAT, membrane-bound O-acyltransferase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus, cerebellum, hippocampus, pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is expressed in amygdala, corpus callosum, hippocampus, spinal cord, ki
• Sequence:

  MATFSRQEFFQQLLQGCLLPTAQQGLDQIWLLLAICLACRLLWRLGLPSYLKHASTVAGG
  FFSLYHFFQLHMVWVVLLSLLCYLVLFLCRHSSHRGVFLSVTILIYLLMGEMHMVDTVTW
  HKMRGAQMIVAMKAVSLGFDLDRGEVGTVPSPVEFMGYLYFVGTIVFGPWISFHSYLQAV
  QGRPLSCRWLQKVARSLALALLCLVLSTCVGPYLFPYFIPLNGDRLLRNKKRKARGTMVR
  WLRAYESAVSFHFSNYFVGFLSEATATLAGAGFTEEKDHLEWDLTVSKPLNVELPRSMVE
  VVTSWNLPMSYWLNNYVFKNALRLGTFSAVLVTYAASALLHGFSFHLAAVLLSLAFITYV
  EHVLRKRLARILSACVLSKRCPPDCSHQHRLGLGVRALNLLFGALAIFHLAYLGSLFDVD
  VDDTTEEQGYGMAYTVHKWSELSWASHWVTFGCWIFYRLIG

• Sequence length: 461

Pathways

KEGG:

Wnt signaling pathway

Reactome:

WNT ligand secretion is abrogated by the PORCN inhibitor LGK974

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
Anophthalmia-microphthalmia syndrome	Pathogenic	rs267606973	RCV003483430	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal dermal hypoplasia	Likely pathogenic; Pathogenic	rs2147130188, rs2147123496, rs2147131642, rs2147139830, rs2519467926, rs2519447958, rs1114167283, rs2519442928, rs2519481658, rs587776737, rs267606973, rs137852218, rs137852219, rs1602072227, rs2519471074, rs2519492005, rs2519481642, rs1057519006, rs1556975151, rs1602085557, rs2061661896, rs1602070472, rs1602070594, rs2061701575, rs2061714949, rs2061661681	RCV001726710 RCV001766049 RCV001784874 RCV001823429 RCV003147767 RCV002468767 RCV000491111 RCV003228718 RCV003228729 RCV000011446 RCV000011447 RCV000011448 RCV000011449 RCV003397201 RCV003397202 RCV003444073 RCV003455823 RCV000414798 RCV000664204 RCV000853254 RCV001095366 RCV001004914 RCV001028047 RCV001264757 RCV000022872 RCV001293723	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs2519454937	RCV001255387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs137852218, rs1602072227	RCV005887429 RCV005932754	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PORCN-related disorder	Pathogenic; Likely pathogenic	rs2519455254, rs2519511864, rs2519481658	RCV003404466 RCV003896945 RCV003971621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1602070594	RCV005912403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA AND MENTAL DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS CO-OCCURRENT WITH CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18193088		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32104684	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	BEFREE	19309688		★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35101074	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	GENOMICS_ENGLAND_DG	13948891, 17546030, 18325042, 19309688, 19863546		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	LHGDN	17546030, 17546031, 18325042		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	UNIPROT_DG	17546030, 17546031, 18325042, 19277062, 19309688, 19586929, 19863546, 21472892		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	CTD_human_DG	17546030, 17546031		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	BEFREE	17546031, 17951029, 18325042, 19277062, 19292719, 19309688, 19586929, 19863546, 20626533, 20854095, 21484999, 21768372, 22250236, 22412863, 23399492, 23696273, 24223895, 25026905, 25040319, 25464842, 26799923, 26834080, 26843121, 26858134, 27001925, 29525789, 30693654		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Dermal Hypoplasia	Focal dermal hypoplasia	Pubtator	19277062, 24698628, 25026905, 25040319, 25464842, 30693654, 33557041, 35101074, 36313953, 37859990	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	ORPHANET_DG	19586929		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal dermal hypoplasia	Focal Dermal Hypoplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	28960167		★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroxinemia, Familial Dysalbuminemic	Hyperthyroxinemia, Dysalbuminemic	GENOMICS_ENGLAND_DG	17546030		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	28960167		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32104684	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18193088		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18193088		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31391551		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18193088		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35101074	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	19277062		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	25026905		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	25026905	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35905688	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28011678		★☆☆☆☆ 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
Neoplasms	Neoplasms	BEFREE	30925992, 31709622		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30790642		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopathia striata	Osteopathia striata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	24223895		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35536676	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pentalogy of Cantrell	Pentalogy Of Cantrell	BEFREE	19586929		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	19863546		★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	35101074	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	28960167		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37859990	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21332693		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	29476797		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only