PLAA (phospholipase A2 activating protein)

Gene

• Entrez ID: 9373
• Gene name: Phospholipase A2 activating protein
• Gene symbol: PLAA
• Synonyms (NCBI Gene): DOA1, NDMSBA, PLA2P, PLAP
• Chromosome: 9
• Chromosome location: 9p21.2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1114167457	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1426488816	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1587143858	C>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1587185107	->CTA	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT700756	hsa-miR-552-3p	HITS-CLIP	23313552
MIRT700755	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT700754	hsa-miR-4698	HITS-CLIP	23313552
MIRT700753	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT700752	hsa-miR-1281	HITS-CLIP	23313552
MIRT700751	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT700750	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT700749	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT700748	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT700747	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT700746	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT700745	hsa-miR-5095	HITS-CLIP	23313552
MIRT700744	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT700743	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT709328	hsa-miR-4800-3p	HITS-CLIP	19536157
MIRT700756	hsa-miR-552-3p	HITS-CLIP	23313552
MIRT700755	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT700754	hsa-miR-4698	HITS-CLIP	23313552
MIRT700753	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT700752	hsa-miR-1281	HITS-CLIP	23313552
MIRT700751	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT700750	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT700749	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT700748	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT700747	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT700746	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT700745	hsa-miR-5095	HITS-CLIP	23313552
MIRT700744	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT700743	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT1238864	hsa-miR-1265	CLIP-seq
MIRT1238865	hsa-miR-154	CLIP-seq
MIRT1238866	hsa-miR-2392	CLIP-seq
MIRT1238867	hsa-miR-302f	CLIP-seq
MIRT1238868	hsa-miR-3163	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT1238870	hsa-miR-377	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT1238872	hsa-miR-489	CLIP-seq
MIRT1238873	hsa-miR-548c-3p	CLIP-seq
MIRT1238874	hsa-miR-556-3p	CLIP-seq
MIRT1238875	hsa-miR-561	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238877	hsa-miR-888	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238864	hsa-miR-1265	CLIP-seq
MIRT1238866	hsa-miR-2392	CLIP-seq
MIRT1238870	hsa-miR-377	CLIP-seq
MIRT1922925	hsa-miR-4677-3p	CLIP-seq
MIRT1922926	hsa-miR-4679	CLIP-seq
MIRT2070267	hsa-miR-361-5p	CLIP-seq
MIRT2070268	hsa-miR-3653	CLIP-seq
MIRT2070269	hsa-miR-3658	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT2070270	hsa-miR-4438	CLIP-seq
MIRT2070271	hsa-miR-4519	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT2070272	hsa-miR-4704-3p	CLIP-seq
MIRT2070273	hsa-miR-4742-5p	CLIP-seq
MIRT2070274	hsa-miR-4753-3p	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238877	hsa-miR-888	CLIP-seq
MIRT2070275	hsa-miR-944	CLIP-seq
MIRT1238868	hsa-miR-3163	CLIP-seq
MIRT2297530	hsa-miR-3622a-3p	CLIP-seq
MIRT2297531	hsa-miR-3622b-3p	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT2297532	hsa-miR-380	CLIP-seq
MIRT2297533	hsa-miR-3924	CLIP-seq
MIRT2297534	hsa-miR-4495	CLIP-seq
MIRT1238871	hsa-miR-4676-5p	CLIP-seq
MIRT1238876	hsa-miR-575	CLIP-seq
MIRT1238877	hsa-miR-888	CLIP-seq
MIRT1238869	hsa-miR-376c	CLIP-seq
MIRT2594914	hsa-miR-1279	CLIP-seq
MIRT2594915	hsa-miR-3685	CLIP-seq
MIRT2594916	hsa-miR-384	CLIP-seq
MIRT2594917	hsa-miR-4272	CLIP-seq
MIRT2594918	hsa-miR-4471	CLIP-seq
MIRT2594919	hsa-miR-452	CLIP-seq
MIRT2594920	hsa-miR-4528	CLIP-seq
MIRT2594921	hsa-miR-4676-3p	CLIP-seq
MIRT2594922	hsa-miR-4709-3p	CLIP-seq
MIRT2594923	hsa-miR-4715-3p	CLIP-seq
MIRT2594924	hsa-miR-548m	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	18291623

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18775313, 22190034, 25416956, 27753622, 32296183, 35271311, 37776851
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28007986
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	27753622, 28007986
GO:0005737	Component	Cytoplasm	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	TAS	9931468
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	TAS	9931468
GO:0007399	Process	Nervous system development	IEA
GO:0010992	Process	Ubiquitin recycling	IBA
GO:0016005	Function	Phospholipase A2 activator activity	IEA
GO:0016005	Function	Phospholipase A2 activator activity	IMP	28007986
GO:0016005	Function	Phospholipase A2 activator activity	TAS	9931468
GO:0016236	Process	Macroautophagy	IMP	27753622
GO:0031394	Process	Positive regulation of prostaglandin biosynthetic process	IEA
GO:0031394	Process	Positive regulation of prostaglandin biosynthetic process	ISS
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	ISS
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0070062	Component	Extracellular exosome	IDA	17076679
GO:0071222	Process	Cellular response to lipopolysaccharide	IMP	28007986
GO:1900045	Process	Negative regulation of protein K63-linked ubiquitination	IEA
GO:1900045	Process	Negative regulation of protein K63-linked ubiquitination	ISS
GO:1903423	Process	Positive regulation of synaptic vesicle recycling	IEA
GO:1903423	Process	Positive regulation of synaptic vesicle recycling	ISS
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:1903861	Process	Positive regulation of dendrite extension	ISS
GO:2001224	Process	Positive regulation of neuron migration	IEA
GO:2001224	Process	Positive regulation of neuron migration	ISS

Other IDs

• MIM: 603873
• HGNC: 9043
• e!Ensembl: ENSG00000137055

Protein

• UniProt ID: Q9Y263
• Protein name: Phospholipase A-2-activating protein (PLA2P) (PLAP)
• Protein function: Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a ro
• PDB: 2K89, 2K8A, 2K8B, 2K8C, 3EBB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	55 → 98	WD domain, G-beta repeat	Repeat
  PF00400	WD40	103 → 138	WD domain, G-beta repeat	Repeat
  PF00400	WD40	141 → 179	WD domain, G-beta repeat	Repeat
  PF00400	WD40	181 → 218	WD domain, G-beta repeat	Repeat
  PF00400	WD40	221 → 259	WD domain, G-beta repeat	Repeat
  PF00400	WD40	261 → 298	WD domain, G-beta repeat	Repeat
  PF09070	PFU	345 → 459	PFU (PLAA family ubiquitin binding)	Domain
  PF08324	PUL	535 → 789	PUL domain	Domain

• Sequence:

  MTSGATRYRLSCSLRGHELDVRGLVCCAYPPGAFVSVSRDRTTRLWAPDSPNRSFTEMHC
  MSGHSNFVSCVCIIPSSDIYPHGLIATGGNDHNICIFSLDSPMPLYILKGHKNTVCSLSS
  GKFGTLLSGSWDTTAKVWLNDKCMMTLQGHTAAVWAVKILPEQGLMLTGSADKTVKLWKA
  GRCERTFSGHEDCVRGLAILSETEFLSCANDASIRRWQITGECLEVYYGHTNYIYSISVF
  PNCRDFVTTAEDRSLRIWKHGECAQTIRLPAQSIWCCCVLDNGDIVVGASDGIIRVFTES
  EDRTASAEEIKAFEKELSHATIDSKTGDLGDINAEQLPGREHLNEPGTREGQTRLIRDGE
  KVEAYQWSVSEGRWIKIGDVVGSSGANQQTSGKVLYEGKEFDYVFSIDVNEGGPSYKLPY
  NTSDDPWLTAYNFLQKNDLNPMFLDQVAKFIIDNTKGQMLGLGNPSFSDPFTGGGRYVPG
  SSGSSNTLPTADPFTGAGRYVPGSASMGTTMAGVDPFTGNSAYRSAASKTMNIYFPKKEA
  VTFDQANPTQILGKLKELNGTAPEEKKLTEDDLILLEKILSLICNSSSEKPTVQQLQILW
  KAINCPEDIVFPALDILRLSIKHPSVNENFCNEKEGAQFSSHLINLLNPKGKPANQLLAL
  RTFCNCFVGQAGQKLMMSQRESLMSHAIELKSGSNKNIHIALATLALNYSVCFHKDHNIE
  GKAQCLSLISTILEVVQDLEATFRLLVALGTLISDDSNAVQLAKSLGVDSQIKKYSSVSE
  PAKVSECCRFILNLL

• Sequence length: 795

Pathways

KEGG:

Protein processing in endoplasmic reticulum

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
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	Likely pathogenic; Pathogenic	rs2131392225, rs1241511703, rs2489161312, rs1114167457, rs747956857, rs1554662408, rs1587143858, rs1587185107, rs1587205406, rs1824723269, rs1824935807	RCV001808293 RCV002470549 RCV003214127 RCV000491779 RCV000491007 RCV000491458 RCV000855728 RCV000995608 RCV001027887 RCV001251445 RCV001251446	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLAA-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10571045		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	1420999	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Cerebellar cortical atrophy	Cerebellar cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	40243517	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26242403		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	10380373		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10380373, 26242403		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8703954		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	1596896		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	10571045, 10644453		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28007986		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28413018		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperhidrosis Palmaris Et Plantaris	Hyperhidrosis Palmaris Et Plantaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	9014769		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	30796134		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	28007986		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26242403		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	1596896		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10571045, 10644453		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10644453, 1596896, 21692598, 26242403, 26956263, 3325192		★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	Neurodevelopmental Disorder With Microcephaly, Spasticity, And Brain Anomalies	UNIPROT_DG	28007986, 28413018		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	Neurodevelopmental Disorder With Microcephaly, Spasticity, And Brain Anomalies	GENOMICS_ENGLAND_DG	28007986, 28413018		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	Neurodevelopmental Disorder With Microcephaly, Spasticity, And Brain Anomalies	ORPHANET_DG	28007986, 28413018		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	Neurodevelopmental Disorder With Microcephaly, Spasticity, And Brain Anomalies	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
PLAA-associated neurodevelopmental disorder	Neurodevelopmental Disorders	Orphanet			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	GWASDB_DG	23164818		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	36232302	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20185149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20185149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20185149	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21791550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	28526340		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	3325192		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	10644453		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28526340		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	26306513		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only