INPP5K (inositol polyphosphate-5-phosphatase K)

Gene

• Entrez ID: 51763
• Gene name: Inositol polyphosphate-5-phosphatase K
• Gene symbol: INPP5K
• Synonyms (NCBI Gene): MDCCAID, PPS, SKIP
• Chromosome: 17
• Chromosome location: 17p13.3
• Summary: This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternative

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749383757	C>T	Pathogenic	Coding sequence variant, missense variant, initiator codon variant
rs750781027	C>A,T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs761612652	C>T	Pathogenic	Coding sequence variant, missense variant
rs766046008	T>C	Pathogenic	Coding sequence variant, missense variant
rs1060505038	A>G	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1060505039	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, initiator codon variant
rs1060505040	GT>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029506	hsa-miR-26b-5p	Microarray	19088304
MIRT1067460	hsa-miR-299-3p	CLIP-seq
MIRT1067461	hsa-miR-3138	CLIP-seq
MIRT1067462	hsa-miR-3614-5p	CLIP-seq
MIRT1067463	hsa-miR-4491	CLIP-seq
MIRT1067464	hsa-miR-4657	CLIP-seq
MIRT1067465	hsa-miR-4672	CLIP-seq
MIRT1067466	hsa-miR-4800-5p	CLIP-seq
MIRT1067467	hsa-miR-485-3p	CLIP-seq
MIRT1067468	hsa-miR-765	CLIP-seq
MIRT2016387	hsa-miR-3668	CLIP-seq
MIRT2016388	hsa-miR-4719	CLIP-seq
MIRT2248637	hsa-miR-2117	CLIP-seq
MIRT2451883	hsa-miR-4766-5p	CLIP-seq
MIRT2451884	hsa-miR-605	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001726	Component	Ruffle	IBA
GO:0001726	Component	Ruffle	IDA	12536145
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP	28190456
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IEA
GO:0005000	Function	Vasopressin receptor activity	IEA
GO:0005000	Function	Vasopressin receptor activity	ISS
GO:0005515	Function	Protein binding	IPI	16002321, 16189514, 21712384, 25416956, 26940976, 29892012, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	18774950
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	12536145, 18774950, 26940976, 28190456
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005802	Component	Trans-Golgi network	IDA	12556481
GO:0005829	Component	Cytosol	IDA	10753883, 21712384
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12556481, 21712384
GO:0005979	Process	Regulation of glycogen biosynthetic process	IEA
GO:0005979	Process	Regulation of glycogen biosynthetic process	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0010829	Process	Negative regulation of D-glucose transmembrane transport	IDA	12556481
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	12536145
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IBA
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IDA	10753883, 18573875
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030036	Process	Actin cytoskeleton organization	NAS	10753883
GO:0032587	Component	Ruffle membrane	IDA	12556481
GO:0032868	Process	Response to insulin	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IDA	12556481
GO:0032870	Process	Cellular response to hormone stimulus	IEA
GO:0032870	Process	Cellular response to hormone stimulus	ISS
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IBA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IDA	21712384
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0034594	Function	Phosphatidylinositol trisphosphate phosphatase activity	IDA	12556481
GO:0034595	Function	Phosphatidylinositol phosphate 5-phosphatase activity	IMP	18774950
GO:0035305	Process	Negative regulation of dephosphorylation	IEA
GO:0035305	Process	Negative regulation of dephosphorylation	ISS
GO:0035810	Process	Positive regulation of urine volume	IEA
GO:0035810	Process	Positive regulation of urine volume	ISS
GO:0042577	Function	Lipid phosphatase activity	NAS	10753883
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IDA	10753883
GO:0043922	Process	Host-mediated suppression of viral transcription	IDA	18774950
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IBA
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IDA	12556481
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IEA
GO:0045869	Process	Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA	18774950
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0046030	Function	Inositol trisphosphate phosphatase activity	IBA
GO:0046030	Function	Inositol trisphosphate phosphatase activity	IDA	10753883, 18573875
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IBA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	12556481
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	12536145
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	12556481
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18774950, 21712384
GO:0051049	Process	Regulation of transport	IEA
GO:0051497	Process	Negative regulation of stress fiber assembly	IDA	12556481
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	12556481
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051926	Process	Negative regulation of calcium ion transport	IDA	12556481
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0052659	Function	Inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	21712384
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IDA	21712384
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0090315	Process	Negative regulation of protein targeting to membrane	IDA	12556481
GO:0097178	Process	Ruffle assembly	IDA	12556481
GO:1901701	Process	Cellular response to oxygen-containing compound	IEA
GO:1902679	Process	Negative regulation of RNA biosynthetic process	IEA
GO:2001153	Process	Positive regulation of renal water transport	IEA
GO:2001153	Process	Positive regulation of renal water transport	ISS

Other IDs

• MIM: 607875
• HGNC: 33882
• e!Ensembl: ENSG00000132376

Protein

• UniProt ID: Q9BT40
• Protein name: Inositol polyphosphate 5-phosphatase K (EC 3.1.3.56) (Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase) (EC 3.1.3.86) (Phosphatidylinositol-4,5-bisphosphate 5-phosphatase) (EC 3.1.3.36) (Skeletal muscle and kidney-enriched inositol phosphatase)
• Protein function: Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03372	Exo_endo_phos	19 → 311	Endonuclease/Exonuclease/phosphatase family	Domain
  PF17751	SKICH	331 → 431	SKICH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in skeletal muscle, heart and kidney. {ECO:0000269|PubMed:10753883}.
• Sequence:

  MSSRKLSGPKGRRLSIHVVTWNVASAAPPLDLSDLLQLNNRNLNLDIYVIGLQELNSGII
  SLLSDAAFNDSWSSFLMDVLSPLSFIKVSHVRMQGILLLVFAKYQHLPYIQILSTKSTPT
  GLFGYWGNKGGVNICLKLYGYYVSIINCHLPPHISNNYQRLEHFDRILEMQNCEGRDIPN
  ILDHDLIIWFGDMNFRIEDFGLHFVRESIKNRCYGGLWEKDQLSIAKKHDPLLREFQEGR
  LLFPPTYKFDRNSNDYDTSEKKRKPAWTDRILWRLKRQPCAGPDTPIPPASHFSLSLRGY
  SSHMTYGISDHKPVSGTFDLELKPLVSAPLIVLMPEDLWTVENDMMVSYSSTSDFPSSPW
  DWIGLYKVGLRDVNDYVSYAWVGDSKVSCSDNLNQVYIDISNIPTTEDEFLLCYYSNSLR
  SVVGISRPFQIPPGSLREDPLGEAQPQI

• Sequence length: 448

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways

Reactome:

Synthesis of PIPs at the plasma membrane

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
Congenital muscular dystrophy with cataracts and intellectual disability	Likely pathogenic; Pathogenic	rs2075207934, rs779061835, rs2075357811, rs2543926238, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757	RCV002287624 RCV002287625 RCV002291261 RCV002291262 RCV000477672 RCV000477699 RCV000477733 RCV000477679 RCV000477707 RCV000477730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Congenital muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY-CATARACT-INTELLECTUAL DISABILITY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INPP5K-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARINESCO-SJOGREN SYNDROME	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor Cell Lymphoblastic Leukemia-Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Cerebrovascular Accidents	Stroke	BEFREE	30924762		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	18636107		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29434563		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29434563		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30601470		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30601470		★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24817966		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24150787		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32420386	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24817966		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28600978		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28940338		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	28940338		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	28190459		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28350812		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	24917043		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29971948		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29434563		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33168985	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28190459		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36805217	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29971948		★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal Dysplasia	BEFREE	24376213		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	31150494		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25241900, 30695232		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25241900, 30695232		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28190459, 28940338		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36599086	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23696020		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22862891		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31380415		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24817966		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	ORPHANET_DG	28190459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Marinesco-Sjogren Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23443536, 24917043		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29434563		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29653377		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	28940338		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY	Congenital Muscular dystrophy, with cataracts and intellectual disability	GENOMICS_ENGLAND_DG	28190456		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY	Congenital Muscular dystrophy, with cataracts and intellectual disability	UNIPROT_DG	28190456, 28190459		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY	Congenital Muscular dystrophy, with cataracts and intellectual disability	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY	Congenital Muscular dystrophy, with cataracts and intellectual disability	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23443536, 25241900		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	7761412, 9593760		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26284320		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29607885	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29971948		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	26103569		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31380415		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31632241		★☆☆☆☆ Found in Text Mining only