PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

Gene

• Entrez ID: 5290
• Gene name: Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
• Gene symbol: PIK3CA
• Synonyms (NCBI Gene): CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP, MCM, MCMTC, PI3K, PI3K-alpha, p110-alpha
• Chromosome: 3
• Chromosome location: 3q26.32
• Summary: Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104886003	G>A,C	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, drug-response, not-provided	Missense variant, coding sequence variant
rs121913272	T>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913273	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913274	A>C,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913275	G>A,C,T	Pathogenic, likely-pathogenic, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs121913277	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913279	A>G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913281	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913282	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913283	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913284	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913285	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913286	C>A,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913287	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913288	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs201884756	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397514565	G>A	Pathogenic	Missense variant, coding sequence variant
rs397517200	AGATTTGCTGAACCC>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs397517201	A>C,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397517202	A>G	Pathogenic	Missense variant, coding sequence variant
rs587776802	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587776932	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587776933	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs587777790	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777791	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777792	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777793	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777794	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587777795	GT>C	Pathogenic	Coding sequence variant, frameshift variant
rs587777796	T>G	Pathogenic	Stop gained, coding sequence variant
rs749415085	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs772110575	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225060	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs863225460	T>A	Pathogenic	Missense variant, coding sequence variant
rs867262025	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886042002	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057518041	->GTC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1057519699	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057519925	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1057519926	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519927	A>C,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519928	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519929	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519930	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519931	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519932	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519933	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519934	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519935	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519936	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519937	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519938	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519939	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519940	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519941	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519942	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1064793349	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793663	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064793732	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064793838	A>G	Pathogenic	Missense variant, coding sequence variant
rs1064795304	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553820381	CAGTAGGCAACC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1553825266	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553826166	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553826184	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1560137208	T>C	Pathogenic	Missense variant, coding sequence variant
rs1560137609	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576935161	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1576947658	T>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006837	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	22940133
MIRT006837	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	22940133
MIRT007316	hsa-miR-148b-3p	Western blot	23238785
MIRT007316	hsa-miR-148b-3p	Western blot	23238785
MIRT017306	hsa-miR-335-5p	Microarray	18185580
MIRT050839	hsa-miR-17-5p	CLASH	23622248
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054839	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Quantitative proteomic approach, Western blot	24440701
MIRT054889	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	24486107
MIRT007316	hsa-miR-148b-3p	Luciferase reporter assay	23233531
MIRT007316	hsa-miR-148b-3p	Luciferase reporter assay	23233531
MIRT007316	hsa-miR-148b-3p	Luciferase reporter assay	23233531
MIRT438492	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24996183
MIRT438492	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24996183
MIRT161793	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT161793	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT731192	hsa-miR-373-3p	Western blot, Luciferase reporter assay, Microarray	25591738
MIRT731192	hsa-miR-373-3p	Western blot, Luciferase reporter assay, Microarray	25591738
MIRT161796	hsa-miR-490-5p	Luciferase reporter assay, qRT-PCR	26559013
MIRT161796	hsa-miR-490-5p	Luciferase reporter assay, qRT-PCR	26559013
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, Western blot	26617776
MIRT007316	hsa-miR-148b-3p	ELISA, Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	32506974
MIRT007316	hsa-miR-148b-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blotting	32506974
MIRT734735	hsa-miR-320a	Luciferase reporter assay, Western blotting, qRT-PCR	34194551
MIRT734735	hsa-miR-320a	Western blotting, qRT-PCR, ELISA	34194551
MIRT755609	hsa-miR-29a-3p	Luciferase reporter assay, Western blotting, Immunofluorescence	35288486
MIRT755929	hsa-miR-142-5p	Western blotting, qRT-PCR, in vitro cullelar assays	35194440
MIRT006837	hsa-miR-124-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34747105
MIRT209229	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR	38179473
MIRT2068971	hsa-miR-4264	CLIP-seq
MIRT2068972	hsa-miR-4797-3p	CLIP-seq
MIRT2068973	hsa-miR-520a-5p	CLIP-seq
MIRT2068974	hsa-miR-525-5p	CLIP-seq
MIRT2068975	hsa-miR-579	CLIP-seq
MIRT2068976	hsa-miR-759	CLIP-seq
MIRT2068977	hsa-miR-935	CLIP-seq
MIRT2295970	hsa-miR-1206	CLIP-seq
MIRT2295971	hsa-miR-1246	CLIP-seq
MIRT2295972	hsa-miR-19a	CLIP-seq
MIRT2295973	hsa-miR-19b	CLIP-seq
MIRT2295974	hsa-miR-302a	CLIP-seq
MIRT2295975	hsa-miR-302b	CLIP-seq
MIRT2295976	hsa-miR-302c	CLIP-seq
MIRT2295977	hsa-miR-302d	CLIP-seq
MIRT2295978	hsa-miR-302e	CLIP-seq
MIRT2295979	hsa-miR-3152-5p	CLIP-seq
MIRT2295980	hsa-miR-337-3p	CLIP-seq
MIRT2295981	hsa-miR-370	CLIP-seq
MIRT2295982	hsa-miR-372	CLIP-seq
MIRT2295983	hsa-miR-373	CLIP-seq
MIRT2295984	hsa-miR-4663	CLIP-seq
MIRT2295985	hsa-miR-4693-3p	CLIP-seq
MIRT2295986	hsa-miR-4763-5p	CLIP-seq
MIRT2295987	hsa-miR-4774-3p	CLIP-seq
MIRT2295988	hsa-miR-519a	CLIP-seq
MIRT2295989	hsa-miR-519b-3p	CLIP-seq
MIRT2295990	hsa-miR-519c-3p	CLIP-seq
MIRT2295991	hsa-miR-520a-3p	CLIP-seq
MIRT2295992	hsa-miR-520b	CLIP-seq
MIRT2295993	hsa-miR-520c-3p	CLIP-seq
MIRT2295994	hsa-miR-520d-3p	CLIP-seq
MIRT2295995	hsa-miR-520e	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXO3	Unknown	19299143
HIF1A	Unknown	23060442

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001889	Process	Liver development	IEA
GO:0001944	Process	Vasculature development	TAS	19200708
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	10490823, 16043515, 17475214, 18079394, 19380743, 19411071, 19574958, 19805105, 20018188, 20713702, 21706016, 22402981, 23643389, 23676467, 24189400, 25253337, 25814554, 26496610, 28514442, 30568254, 32814053, 33961781, 34591612, 34591642, 35271311, 35512704
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IEA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	ISS
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IBA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IDA	22402981
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IPI	19805105
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	NAS	20379207, 22402981
GO:0005944	Component	Phosphatidylinositol 3-kinase complex, class IB	IBA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008286	Process	Insulin receptor signaling pathway	TAS	19200708
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0014823	Process	Response to activity	IEA
GO:0014870	Process	Response to muscle inactivity	IEA
GO:0016242	Process	Negative regulation of macroautophagy	NAS	23778976
GO:0016301	Function	Kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IBA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IDA	2174051
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	ISS
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	TAS	19200708
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030168	Process	Platelet activation	TAS	21035500
GO:0030295	Function	Protein kinase activator activity	IEA
GO:0030835	Process	Negative regulation of actin filament depolymerization	IEA
GO:0030835	Process	Negative regulation of actin filament depolymerization	ISS
GO:0032008	Process	Positive regulation of TOR signaling	NAS	23778976
GO:0032869	Process	Cellular response to insulin stimulus	IDA	24529379
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA
GO:0035994	Process	Response to muscle stretch	IEA
GO:0035994	Process	Response to muscle stretch	ISS
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IBA
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IGI	30496354
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0043201	Process	Response to L-leucine	IEA
GO:0043276	Process	Anoikis	NAS	23778976
GO:0043457	Process	Regulation of cellular respiration	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	30496354
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS	30568254
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043542	Process	Endothelial cell migration	TAS	19200708
GO:0043560	Function	Insulin receptor substrate binding	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	ISS
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IBA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IDA	28676499
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	30496354
GO:0055119	Process	Relaxation of cardiac muscle	IEA
GO:0055119	Process	Relaxation of cardiac muscle	ISS
GO:0060048	Process	Cardiac muscle contraction	TAS	19147653
GO:0060612	Process	Adipose tissue development	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071464	Process	Cellular response to hydrostatic pressure	IEA
GO:0071464	Process	Cellular response to hydrostatic pressure	ISS	30568254
GO:0071548	Process	Response to dexamethasone	IEA
GO:0086003	Process	Cardiac muscle cell contraction	IEA
GO:0086003	Process	Cardiac muscle cell contraction	ISS
GO:0097009	Process	Energy homeostasis	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0110053	Process	Regulation of actin filament organization	IEA
GO:0110053	Process	Regulation of actin filament organization	ISS
GO:0141068	Process	Autosome genomic imprinting	IEA
GO:1903544	Process	Response to butyrate	IEA
GO:1905477	Process	Positive regulation of protein localization to membrane	IDA	28676499
GO:2000270	Process	Negative regulation of fibroblast apoptotic process	IEA
GO:2000811	Process	Negative regulation of anoikis	IMP	22402981
GO:2000811	Process	Negative regulation of anoikis	NAS	22402981

Other IDs

• MIM: 171834
• HGNC: 8975
• e!Ensembl: ENSG00000121879

Protein

• UniProt ID: P42336
• Protein name: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform (PI3-kinase subunit alpha) (PI3K-alpha) (PI3Kalpha) (PtdIns-3-kinase subunit alpha) (EC 2.7.1.137) (EC 2.7.1.153) (Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa cataly
• Protein function: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdI
• PDB: 2ENQ, 2RD0, 3HHM, 3HIZ, 3ZIM, 4JPS, 4L1B, 4L23, 4L2Y, 4OVU, 4OVV, 4TUU, 4TV3, 4WAF, 4YKN, 4ZOP, 5DXH, 5DXT, 5FI4, 5ITD, 5SW8, 5SWG, 5SWO, 5SWP, 5SWR, 5SWT, 5SX8, 5SX9, 5SXA, 5SXB, 5SXC, 5SXD, 5SXE, 5SXF, 5SXI, 5SXJ, 5SXK, 5UBR, 5UK8, 5UKJ, 5UL1, 5XGH, 5XGI, 5XGJ, 6GVF, 6GVG, 6GVH, 6GVI, 6NCT, 6OAC, 6PYS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02192	PI3K_p85B	32 → 107	PI3-kinase family, p85-binding domain	Family
  PF00794	PI3K_rbd	173 → 292	PI3-kinase family, ras-binding domain	Domain
  PF00792	PI3K_C2	350 → 485	Phosphoinositide 3-kinase C2	Domain
  PF00613	PI3Ka	519 → 704	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
  PF00454	PI3_PI4_kinase	796 → 1015	Phosphatidylinositol 3- and 4-kinase	Family

• Sequence:

  MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQ
  LLQDESSYIFVSVTQEAEREEFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFA
  IGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPHSRAMYVYPPNVESSPELPKH
  IYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
  LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMD
  CFTMPSYSRRISTATPYMNGETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGI
  YHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAARLCLSICSVKGRKGAKEEHC
  PLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
  SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPL
  SEITEQEKDFLWSHRHYCVTIPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAME
  LLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLKYEQYLDNLLVRFLLKKALTN
  QRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
  QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLW
  LNWENPDIMSELLFQNNEIIFKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLS
  IGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQWLKDKNKGEIYDAAIDLFTRS
  CAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
  LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIA
  YIRKTLALDKTEQEALEYFMKQMNDAHHGGWTTKMDWIFHTIKQHALN

• Sequence length: 1068

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
Platinum drug resistance
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phosphatidylinositol signaling system
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Apoptosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Cellular senescence
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
Focal adhesion
Signaling pathways regulating pluripotency of stem cells
Platelet activation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
TNF signaling pathway
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Cholinergic synapse
Inflammatory mediator regulation of TRP channels
Regulation of actin cytoskeleton
Insulin signaling pathway
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Prolactin signaling pathway
Thyroid hormone signaling pathway
Regulation of lipolysis in adipocytes
Relaxin signaling pathway
GnRH secretion
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Carbohydrate digestion and absorption
Alzheimer disease
Spinocerebellar ataxia
Prion disease
Bacterial invasion of epithelial cells
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Amoebiasis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Melanoma
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

PI3K Cascade
IRS-mediated signalling
GPVI-mediated activation cascade
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
PI3K events in ERBB4 signaling
PIP3 activates AKT signaling
Signaling by SCF-KIT
Synthesis of PIPs at the plasma membrane
GAB1 signalosome
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
PI3K events in ERBB2 signaling
PI3K/AKT activation
Downstream TCR signaling
Role of phospholipids in phagocytosis
Tie2 Signaling
Constitutive Signaling by Aberrant PI3K in Cancer
DAP12 signaling
Role of LAT2/NTAL/LAB on calcium mobilization
Costimulation by the CD28 family
CD28 dependent PI3K/Akt signaling
G alpha (q) signalling events
VEGFA-VEGFR2 Pathway
Interleukin-3, Interleukin-5 and GM-CSF signaling
Constitutive Signaling by EGFRvIII
PI-3K cascade:FGFR1
PI-3K cascade:FGFR2
PI-3K cascade:FGFR3
PI-3K cascade:FGFR4
Signaling by FGFR2 in disease
Signaling by FGFR4 in disease
Signaling by FGFR1 in disease
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
MET activates PI3K/AKT signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants in cancer
RET signaling
Extra-nuclear estrogen signaling
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Interleukin receptor SHC signaling
Regulation of signaling by CBL
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 ECD mutants
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
Signaling by PDGFRA extracellular domain mutants

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
CLOVES Syndrome	cloves syndrome	rs121913273, rs397517202, rs121913287, rs1057519929, rs121913272, rs397517199, rs1057519925, rs121913279	N/A
Cowden Syndrome	cowden syndrome 5, cowden syndrome, Cowden syndrome 1	rs1057519942, rs121913287, rs863225060, rs1064793663, rs397514565, rs121913279, rs867262025, rs121913283, rs587777790, rs1064793732, rs121913275, rs121913281, rs587777791, rs1064793838, rs587777792, rs1057519929, rs121913272, rs121913288, rs587776933, rs587777793, rs886042002, rs587777796, rs1576947658, rs587776932, rs1057519925	N/A
Endometrial carcinoma	endometrial carcinoma	rs1553826166	N/A
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	megalencephaly-capillary malformation-polymicrogyria syndrome	rs121913283, rs397514565, rs1064793349, rs121913281, rs121913279, rs867262025, rs121913275, rs1057519929, rs1064793732, rs121913285, rs863225460, rs587776933, rs886042002, rs104886003, rs121913277, rs1057519925, rs587776932, rs1576935161, rs121913287, rs1724674149	N/A
neoplasm	Neoplasm	rs1724674149, rs121913287, rs121913284, rs121913285, rs1057519929, rs772110575, rs886042002, rs121913272, rs397517199, rs1057519941, rs397517201	N/A
Breast Adenocarcinoma	breast adenocarcinoma	rs121913286, rs104886003, rs121913279	N/A
CLAPO Syndrome	clapo syndrome	rs121913279, rs121913273, rs121913272, rs1560137208	N/A
gastric cancer	Gastric cancer	rs587776802	N/A
hepatocellular carcinoma	Hepatocellular carcinoma	rs121913274, rs121913279, rs587776802	N/A
Lip and Oral Cavity Carcinoma	lip and oral cavity carcinoma	rs1057519927, rs121913273	N/A
Lung carcinoma	non-small cell lung carcinoma	rs397517202, rs121913273, rs121913281, rs104886003, rs121913283, rs121913279, rs397517200	N/A
Sarcoma	sarcoma	rs104886003	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Breast Carcinoma	hereditary breast carcinoma	N/A	N/A	GenCC
colorectal cancer	Colorectal cancer	N/A	N/A	ClinVar
Ovarian cancer	familial ovarian cancer	N/A	N/A	GenCC
polycystic kidney disease	Polycystic kidney disease	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	22363598
Abdominal Injuries	Associate	27033063
Abdominal Pain	Associate	35787784
Acidemia isovaleric	Associate	30075505
ACTH Secreting Pituitary Adenoma	Associate	22782554
Adenocarcinoma	Associate	22430133, 22450065, 23196793, 23525077, 24299561, 24533074, 24823994, 25220666, 25426553, 25473901, 26197069, 26317919, 26536055, 26884879, 26998897, 27007084, 27080983, 27224988, 28617917, 28731050, 28845578, 29224720, 32756609, 33186471, 33300112, 33500480, 36333792, 36788068, 36898331, 38092180
Adenocarcinoma Follicular	Associate	34171097, 39336800
Adenocarcinoma Mucinous	Associate	27982025, 29793804
Adenocarcinoma of Lung	Associate	17487277, 20855837, 22135231, 22975805, 23802852, 24453288, 24700479, 25546673, 26066407, 26098749, 26334752, 27007084, 27060149, 27151654, 27304188, 27342566, 27554588, 27734950, 28755461, 29518290, 30744664, 31386689, 31387567, 32186774, 33219256, 33997043, 35140701, 35212617, 35474604, 35521981, 36583000, 37000102, 37061713, 40457363
Adenocarcinoma Papillary	Associate	21423156
Adenoma	Associate	21263251, 25551625, 26019684, 26884879, 27224988
Adenoma Pleomorphic	Associate	36243681
Adenoma Villous	Stimulate	26884879
Adenomyoepithelioma	Associate	29739933, 32355271
Adrenal Gland Neoplasms	Associate	21225506
Adrenocortical Carcinoma	Associate	25078331
Agnosia	Associate	40536266
Aicardi Syndrome	Associate	26011570
Alcohol Related Disorders	Associate	35526022, 35778969, 35857185, 38136956
Ameloblastoma	Associate	29388014, 35689405
Androgen Insensitivity Syndrome	Associate	35732329
Aneuploidy	Associate	34303217
Anhedonia	Associate	31290289
Anodontia	Associate	33457080, 36835617
Anus Neoplasms	Associate	27219019
Apparent mineralocorticoid excess	Associate	32355271
Appendiceal Neoplasms	Associate	30692096, 33295976
Argininosuccinic Aciduria	Associate	31796844
Arnold Chiari Malformation	Associate	32778138
Arteriovenous Malformations	Associate	34887309
Arthritis Rheumatoid	Associate	25880754
Asthma	Associate	35501805
Astrocytoma	Associate	25047029, 26680641, 34193285, 37667984
Atypical Squamous Cells of the Cervix	Associate	21829508, 22271473, 33503190, 34436017
Autonomic Nervous System Diseases	Associate	26593112, 32500425
Biliary Tract Neoplasms	Associate	26498688, 30908307, 36089135, 36715178, 37341068
Blood Coagulation Disorders	Associate	30063105
Bohring syndrome	Associate	33772212
Bone Diseases	Associate	23248156
Bone Marrow Diseases	Associate	36567775
Brain Diseases	Associate	23248156, 27631024, 28151489, 35857185
Brain Neoplasms	Associate	20604919, 25970776, 31882734, 34499316
Breast Carcinoma In Situ	Associate	24186142, 26643573, 28095868, 31932682
Breast Neoplasms	Associate	15254419, 16168105, 16278669, 16582596, 17224074, 17314276, 17936563, 17990317, 18371219, 18676830, 19027487, 19366795, 19435916, 19573809, 19633047, 19706770, 19844788, 19898424, 20007781, 20169162, 20177704, 20479250, 20551053, 20581867, 20940279, 21124076, 21209903, 21708979, 22033276, 22172323, 22271473, 22302350, 22330809, 22421194, 22460814, 22538770, 22736407, 22938585, 23000897, 23049944, 23063927, 23085752, 23092874, 23184205, 23301057, 23317280, 23541593, 23612454, 23613387, 23895914, 23982433, 24175777, 24229379, 24416132, 24444464, 24467828, 24634376, 24722917, 24782652, 24883302, 24887297, 24918944, 24947048, 24981670, 25056500, 25195596, 25422220, 25467032, 25539732, 25542038, 25583473, 25757876, 25816324, 25993174, 26011570, 26099045, 26181325, 26208487, 26238439, 26301495, 26353837, 26452060, 26474971, 26527317, 26600545, 26630576, 26686201, 26708016, 26743283, 26810975, 26813108, 26915040, 27028851, 27070496, 27108388, 27126994, 27161491, 27177864, 27197157, 27220763, 27283966, 27334837, 27491860, 27491861, 27512948, 27581127, 27604488, 27771839, 27806348, 27811364, 27852271, 27925203, 28027327, 28029147, 28060271, 28196852, 28223411, 28247844, 28269754, 28330468, 28392480, 28393905, 28427202, 28472234, 28486103, 28858218, 28874413, 28902361, 28923573, 28945826, 29110152, 29177603, 29259101, 29322935, 29454754, 29470143, 29482551, 29523855, 29537649, 29540052, 29559730, 29603332, 29636477, 29689598, 29689710, 29739401, 29807833, 29906308, 30212483, 30239581, 30305115, 30426328, 30443844, 30518672, 30543347, 30652258, 30715161, 30723140, 30776175, 30805870, 30806788, 30811755, 30860570, 30867034, 30991934, 31018950, 31088410, 31254443, 31270600, 31277699, 31385461, 31420779, 31554385, 31575382, 31638213, 31693690, 31699932, 31704974, 31754145, 31799667, 31801599, 31867841, 31980592, 32019278, 32067679, 32079541, 32088208, 32091409, 32123305, 32165708, 32176735, 32213086, 32326897, 32352244, 32404150, 32410843, 32441016, 32558176, 32591580, 32620236, 32638235, 32671987, 32707446, 32811538, 32864625, 32881420, 32929011, 32958578, 33024087, 33047659, 33051521, 33059724, 33082214, 33148628, 33166334, 33168657, 33186740, 33191115, 33246021, 33274848, 33293374, 33303839, 33386585, 33441174, 33455095, 33529175, 33541297, 33596424, 33602685, 33632156, 33669698, 33692304, 33692409, 33723724, 33780274, 33782032, 33854067, 33854152, 33893247, 33893289, 33922925, 33947692, 34016182, 34097174, 34268930, 34287479, 34327780, 34364397, 34408553, 34415239, 34453076, 34454403, 34499316, 34754095, 34762647, 34779146, 34842356, 34849446, 34876496, 34876602, 34888385, 35053185, 35101884, 35121623, 35138919, 35383130, 35438321, 35442400, 35450798, 35465733, 35468270, 35562750, 35621626, 35682999, 35702891, 35732329, 35739315, 35778737, 36038884, 36088510, 36097803, 36279023, 36292649, 36321996, 36323880, 36367572, 36404592, 36446041, 36595567, 36626159, 36709040, 36805828, 36826152, 36892268, 36913051, 36934165, 36970726, 37086897, 37094468, 37101291, 37106324, 37195967, 37239898, 37344660, 37348428, 37463468, 37501598, 37511178, 37600707, 37658527, 37682166, 37715134, 37747019, 37784176, 37834269, 37902422, 37925055, 37965796, 38017109, 38042496, 38087296, 38117494, 38159086, 38229073, 38231165, 38403109, 38518529, 38523186, 38531793, 38582077, 38603927, 39197004, 39208653, 39235099, 39336800, 39342926, 39596311, 39742376, 39849870, 40121945, 40305907, 40327992, 40403210, 40472482, 40513140, 40536266, 40597213
Breast Neoplasms Male	Associate	23971979, 25490678, 26960396, 27765917, 31340200
Brenner Tumor	Associate	23887305
Calcinosis Cutis	Associate	20940279, 22421194, 22454081, 22550168, 23384718, 26796526, 27662660, 31254443, 32326897, 32811538, 33154551, 33168657, 35682999, 38231165
Cap Myopathy	Associate	29453410
Carcinogenesis	Associate	11351043, 15254419, 16533766, 16582596, 17990317, 18221484, 18782444, 19237633, 19573809, 22258409, 22357840, 23449277, 24642661, 25415225, 26019684, 26889984, 27998038, 28196852, 29206892, 29636477, 29902261, 30229897, 33247697, 35474604, 36843384, 37463468, 37591832
Carcinoid Tumor	Associate	22949056
Carcinoma	Associate	26339434, 28731042
Carcinoma Adenoid Cystic	Associate	17669465
Carcinoma Adenosquamous	Associate	26080840, 26923333
Carcinoma Basal Cell	Associate	25473901, 31896809
Carcinoma Ductal	Associate	19898424, 22252965, 23589849, 27108388, 30652258, 30813596, 33263939, 33443130
Carcinoma Ductal Breast	Associate	28269754
Carcinoma Endometrioid	Associate	18084252, 19234438, 22653804, 23174937, 28002804, 30315273, 32187665, 33256706, 33475035, 35278272, 35699480, 37773079
Carcinoma Hepatocellular	Associate	21667306, 22190283, 22258409, 23709421, 24931142, 26708293, 26823876, 27602769, 27955658, 28302680, 29285854, 29487225, 31132019, 31363003, 31796844, 32298608, 35277182, 35812416, 37769223
Carcinoma Intraductal Noninfiltrating	Associate	22252965, 23541593, 24186142, 24634376, 26249178, 26718977, 27581127, 28338653, 31420779, 31989433, 33263939, 33443130, 33795819, 38523186, 40629431
Carcinoma Large Cell	Associate	22949056, 23196793, 26317919, 26430808, 30978501
Carcinoma Lobular	Associate	24186142, 26643573, 33441174, 35477749, 37341201
Carcinoma Merkel Cell	Associate	22261808, 22363598, 26238782, 26743471, 26981779, 36602798
Carcinoma Mucoepidermoid	Associate	28327999
Carcinoma Neuroendocrine	Associate	26226847, 32854635, 34247193, 35590107, 36807750
Carcinoma Non Small Cell Lung	Associate	18757405, 20447721, 20881644, 21258250, 21408138, 21507233, 22095222, 22355357, 22363436, 22430133, 23154547, 23277484, 24444464, 24533074, 24736592, 24823994, 25473901, 25629635, 26125431, 26301800, 26536195, 26582655, 26752307, 26777916, 27007084, 27105513, 27659017, 27765909, 27791985, 28085233, 29186353, 29454261, 29956783, 30550363, 30896962, 31952518, 32342665, 32729257, 32756609, 33407425, 34210314, 34860166, 36256645, 36898331, 37553597, 37933017, 40591555
Carcinoma Ovarian Epithelial	Associate	19638206, 22635024, 32599986, 33475035, 33834328, 34615547
Carcinoma Pancreatic Ductal	Associate	30836094, 34033220
Carcinoma Papillary	Associate	19898424, 22025283, 27913435, 28731042, 31028363, 36812689
Carcinoma Renal Cell	Associate	19349352, 21834980, 25081752, 26043110, 27174587, 27581127, 28029662, 28718916, 29353061, 29506494, 32279409, 33023600, 34615547, 36857998, 36932108
Carcinoma Signet Ring Cell	Associate	31406299
Carcinoma Small Cell	Associate	24422746, 28951314, 30717682, 33888337, 33980813, 34952423, 36812376
Carcinoma Squamous Cell	Associate	11959846, 18757405, 20557351, 20881644, 22067401, 22228640, 22768234, 23196793, 23451093, 24299561, 24323028, 24500884, 24533074, 24642661, 25072932, 25220666, 25384882, 25426553, 25473901, 25589618, 25724524, 25738363, 26030731, 26080840, 26197069, 26358014, 26430808, 26479420, 26670666, 27007084, 27145277, 27219019, 27374168, 27834349, 28581676, 28954785, 29186353, 29902261, 29980281, 30446465, 30978501, 31158500, 31299995, 31481045, 31911548, 31952518, 32098697, 33219256, 34650187, 34779821, 35253909, 36333792, 36357817, 36562592, 36869079, 37249797, 37316414, 37469197, 37565840, 37821306, 37908048, 38086165, 38150257, 39333222
Carcinoma Squamous Cell	Inhibit	39222919
Carcinoma Verrucous	Associate	32792599, 37658401, 37768009
Carcinosarcoma	Associate	22653804, 25078343, 28940304, 30194005, 32114514, 37530323
Cardiac Output Low	Associate	39596311
Cardiovascular Diseases	Associate	32352244
Carnitine Palmitoyltransferase II Deficiency Infantile	Associate	28566443, 37974153
Celiac Disease	Associate	35208504
Central Nervous System Vascular Malformations	Associate	32711543, 35343049, 35997716
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	40536266
Cerebral Infarction	Associate	38013375
Charles Bonnet Syndrome	Associate	34887309
Cholangiocarcinoma	Associate	24563076, 24867389, 24889489, 28694672, 30908307, 35070505, 35986087
Cholangitis Sclerosing	Associate	35897137, 36252869
Cholesteatoma	Associate	37272638
Cholesteatoma Middle Ear	Associate	37272638
Chordoma	Associate	23533570, 24983247
Chromosomal Instability	Associate	23165447
Chronobiology Disorders	Associate	24782230
CLAPO Syndrome	Associate	29446767
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	27108388
Clear cell metastatic renal cell carcinoma	Associate	25962440, 39366934
Cognition Disorders	Associate	36229517
Colitis Ulcerative	Associate	28524162
Colonic Diseases	Associate	28755461
Colonic Neoplasms	Associate	20551061, 28755461, 31876604, 35731998, 36812376
Colonic Polyps	Associate	18782444
Colorectal Neoplasms	Associate	15254419, 16150444, 17990317, 18339877, 18516290, 18782444, 19237633, 19603024, 19789368, 19806185, 20098682, 20233444, 20652941, 21103049, 21216929, 21283802, 21425139, 21439039, 21473780, 21704278, 21712828, 21738740, 21829508, 22014273, 22026957, 22285706, 22357840, 22569004, 22586484, 22665543, 22675430, 22798500, 22807617, 22810696, 22828149, 22851869, 22911782, 22931052, 22936063, 23125007, 23165447, 23374602, 23548132, 23617638, 23660947, 23671647, 23728594, 23785428, 23992303, 24006859, 24092809, 24231454, 24339949, 24440976, 24500024, 24599305, 24737664, 24755613, 24930890, 24970817, 25250560, 25337237, 25367198, 25491172, 25501831, 25541970, 25549537, 25550888, 25617745, 25641861, 25714871, 25834816, 25835181, 25851630, 25886136, 25943333, 25994739, 26010451, 26019684, 26134512, 26184520, 26226847, 26375816, 26486455, 26517354, 26553611, 26691448, 26909603, 26915040, 26991109, 27033063, 27050078, 27074743, 27095166, 27146902, 27302833, 27384156, 27405731, 27461218, 27511117, 27602501, 27737711, 27863403, 27982025, 28068936, 28199979, 28222664, 28268248, 28424201, 28513830, 28551381, 28618197, 28746882, 28936923, 29027537, 29045518, 29138025, 29169325, 29180604, 29222441, 29434452, 29546405, 29556349, 29599344, 29666387, 29718453, 29914973, 29945573, 29970892, 30018674, 30085422, 30689692, 30840064, 30854932, 30963391, 30985693, 31036005, 31127692, 31255173, 31548566, 31704733, 31782259, 31802830, 31805970, 32000660, 32066410, 32166754, 32733937, 32810930, 33031197, 33066758, 33177794, 33237662, 33547199, 33714943, 33753628, 33836681, 34111531, 34377593, 34403504, 34433650, 34843402, 34851763, 35173208, 35176763, 35338148, 35435290, 35438321, 35459861, 35641204, 35668106, 35709138, 35718818, 35785488, 35978873, 36017985, 36202073, 36221415, 36295658, 36416825, 36520636, 36652260, 36661655, 36930789, 36963484, 37096801, 37176143, 37326340, 37370046, 37394872, 37621144, 37628868, 37737217, 37750623, 38185290, 39191495, 39220126, 39289671, 39333321, 39342926, 39350061, 39390564, 40082818, 40107157
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	23760948
Compassion Fatigue	Associate	25135958
Complement Component 7 Deficiency	Associate	32384877
Composite Lymphoma	Associate	34791601
Congenital Abnormalities	Associate	31290289
Congenital Hyperinsulinism	Associate	37974153
Congenital Lipomatous Overgrowth Vascular Malformations and Epidermal Nevi	Associate	22658544, 24782230, 25044986, 25557259, 25681199, 25915946, 27438212, 28502725, 29231959, 29549527, 30761771, 31490637, 34074347, 34112235, 34887309, 35146800, 37067587
Connective Tissue Diseases	Associate	31371346
Connective Tissue Nevus	Associate	31371346
Corneal Perforation	Associate	21890452
Cough	Inhibit	39465738
COVID 19	Associate	36229517, 37628961
Cowden Like Syndrome	Associate	23246288
Craniodiaphyseal Dysplasia Autosomal Dominant	Associate	27955658
Cystadenoma Serous	Associate	39336800
Cysts	Associate	26253305
Death	Associate	24440976, 36932108
Death	Inhibit	33455095
Desmoplastic Small Round Cell Tumor	Associate	25119929, 27016421
Developmental Disabilities	Associate	27631024, 30919936, 31290289
Diabetic Retinopathy	Associate	36484399, 38194422
Diarrhea	Associate	35138919
Diffuse Intrinsic Pontine Glioma	Associate	26727948
Disease	Associate	34649969, 35038823, 36229517
Disease Progression	Associate	29700339
Disease Resistance	Associate	35157996
Drug Related Side Effects and Adverse Reactions	Associate	20447721, 28143957, 29549527, 37380669
Dwarfism Pituitary	Associate	31729162
Dysplastic Nevus Syndrome	Associate	32098697
Eccrine Porocarcinoma	Associate	21423156
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	30569174
Emphysema	Associate	30532529
Endocrine System Diseases	Associate	34097174, 35121623, 36518248
Endometrial Hyperplasia	Associate	24186142, 32187665
Endometrial Neoplasms	Associate	16681770, 17924977, 18084252, 18221484, 19234438, 20173732, 20218740, 20398348, 20681032, 21093899, 21266528, 21478295, 22146979, 22271473, 22383975, 22653804, 22923510, 23013731, 23300780, 23674493, 23760948, 23949151, 25078343, 25588929, 27302833, 28002804, 28485815, 30289582, 30442683, 30569174, 31472672, 31714586, 31880826, 32376737, 32473611, 32652986, 33622519, 34831139, 35128859, 37730563, 38536067, 39296440, 39776897
Endometrial Neoplasms	Inhibit	22146979
Endometriosis	Associate	25692284, 30428062, 32473611
Ependymoma	Associate	32612806
Epidermal Nevus	Associate	25928347, 28434888, 37452404
Epilepsies Partial	Associate	23066039
Epilepsy	Associate	34102393, 35355055
Epstein Barr Virus Infections	Associate	26701847, 28453696, 37493631
Erdheim Chester Disease	Associate	25150293
Esophageal Achalasia	Associate	20163722
Esophageal Neoplasms	Associate	24241346, 25106743, 27107065, 29127303, 30115035, 33655918, 34663841, 39560927
Esophageal Squamous Cell Carcinoma	Associate	15761962, 22870241, 24945674, 25054828, 25337715, 25839328, 26528858, 26823766, 27095573, 27749841, 28068934, 28465643, 28731047, 31754291, 33054840, 34663841, 35604910, 36119057
Esophagitis	Associate	22870241
Essential Tremor	Associate	36183486
Esthesioneuroblastoma Olfactory	Associate	28495808
Exanthema	Associate	21283802, 30543347
Facial Hemihypertrophy	Associate	31481664
Familial capillaro venous leptomeningeal angiomatosis	Associate	37667289
Familial cylindromatosis	Associate	26336083
Fatigue	Associate	35138919
Fetal Macrosomia	Associate	26593112
Fever	Associate	27033063
Fibroadenoma	Associate	20616362, 33727697
Fibrocystic Breast Disease	Associate	17669465, 26806567, 31605313, 33382535
Focal Cortical Dysplasia	Associate	35355055
Focal cortical dysplasia of Taylor	Associate	25722288
Fused Teeth	Associate	29975246
Gallbladder Neoplasms	Associate	21303542, 24739824
Ganglioneuroblastoma	Associate	31698611
Ganglioneuroma	Associate	31698611
Gastroesophageal Reflux	Associate	21212151
Gastrointestinal Diseases	Associate	32352244
Gastrointestinal Stromal Tumors	Associate	23470635, 26796526, 31553483, 31570771, 32236636
Genetic Diseases Inborn	Associate	26540293, 27283966
Genomic Instability	Associate	27283966
Gigantism	Associate	29301794
Gingival Diseases	Associate	31743516
Gingival Overgrowth	Associate	23803025, 24782230, 34170046
Glioblastoma	Associate	11351043, 14655756, 15605984, 17050665, 22064833, 25256166, 25943352, 26191234, 27426982, 29454261, 29975751, 31036078, 33237934
Glioma	Associate	19671762, 25934342, 29272522, 29454261, 30403311, 30542720, 30950448, 33318517, 34102393, 37524847, 37713468
Glucosephosphate Dehydrogenase Deficiency	Associate	18221484, 26366417
Glutaric Acidemia I	Associate	35294031
Goiter Multinodular 2	Associate	39336800
Growth Disorders	Associate	35272946
GSD IV Neuromuscular Form Fatal Perinatal	Associate	31250151
HAIR AN syndrome	Associate	23543667
Hamartoma Syndrome Multiple	Associate	23246288, 30180809, 35931053, 39336800
Head and Neck Neoplasms	Associate	11959846, 16533766, 17990317, 24599934, 25589618, 25855885, 27091409, 34247193, 36066547, 39684472
Heart Arrest	Associate	31158500
Hemangioma Cavernous Central Nervous System	Associate	33891857, 37919320, 40401429
Hemangiosarcoma	Associate	22648906, 23599148, 31305404, 32123305, 34397726
Hemihyperplasia Isolated	Associate	24782230, 25557259, 25915946, 29549527, 37452404
Hemimegalencephaly	Associate	22729223, 25722288, 31444548, 34170046, 35355055, 35483878, 37452404
Hepatitis B	Associate	21667306, 38117494
Hereditary Breast and Ovarian Cancer Syndrome	Associate	20177704, 20398348, 21209903, 21216929, 22271473, 22460814, 24186142, 24782652, 25688711, 27108388, 27581127, 29454754, 29537649, 30394935, 32088208, 35273332, 39336800, 40437613
Heredodegenerative Disorders Nervous System	Associate	36183486
Herpes Simplex	Associate	32088246
Histiocytosis Langerhans Cell	Associate	38037140
Hyperglycemia	Associate	30543347, 35138919
Hyperglycinemia Nonketotic	Associate	28566443
Hyperphagia	Associate	30180809
Hyperplasia	Associate	22729222, 25557259, 30591517, 34606700
Hypotension	Associate	22949056
Hypoxia	Associate	27771839
Idiopathic Pulmonary Fibrosis	Associate	32426915
IGHM protein human	Associate	23174937
Ileal Neoplasms	Associate	39966961
Immunodeficiency without anhidrotic ectodermal dysplasia	Associate	25831047
Inflammation	Associate	17541179, 37170094, 38002360, 38194422
Inflammatory Bowel Diseases	Associate	28617917
Inflammatory Breast Neoplasms	Associate	27581127, 28271309, 30086764, 31854063, 34911971
Insulin Resistance	Inhibit	17986714
Insulin Resistance	Associate	23826284
Intellectual Disability	Associate	31290289
Iridogoniodysgenesis and skeletal anomalies	Associate	25915946, 29549527
Keratoacanthoma	Associate	26319365
Keratosis	Associate	26319365
Keratosis Seborrheic	Associate	17673550, 21078999, 28410231
Kidney Neoplasms	Associate	35778737, 38002360
Klippel Trenaunay Weber Syndrome	Associate	25681199, 33918633, 37667289
Kniest dysplasia	Associate	32088208
Laron Syndrome	Associate	26353837
Laryngeal papillomatosis	Associate	32088208, 33263939
Laryngitis	Associate	29700339
Left sided gallbladder	Associate	26019684
Leukemia	Associate	30666840
Leukemia Lymphocytic Chronic B Cell	Associate	22623730, 33539671
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	29934492
Leukemia Myeloid Acute	Associate	22828407, 23526884
Leukemic Infiltration	Associate	25557259, 26497122, 28665924, 36066547, 37452404
Leukoplakia	Associate	37088660
Light Fixation Seizure Syndrome	Associate	25557259
Lipomatosis	Associate	31481664, 37452404
Liposarcoma	Associate	24695632, 27016421
Liposarcoma Myxoid	Associate	20601955, 22020193
Liver Neoplasms	Associate	27090685
Lown Ganong Levine Syndrome	Associate	22675430
Lung Diseases	Associate	23248156, 25491172, 26708016, 34409758
Lung Neoplasms	Associate	17409929, 18757405, 22363436, 22430133, 22696596, 24533074, 24743704, 25473901, 25477232, 25745045, 26163898, 26176612, 26334752, 26486080, 26645682, 28285689, 28475299, 28584208, 28634123, 28662101, 29106415, 32441866, 32756609, 33219256, 33602172, 34217313, 35709927, 36499051, 37009714, 38245692
Lupus Nephritis	Associate	36335193
Lymphangioma	Associate	26191320
Lymphangioma Cystic	Associate	26191320
Lymphatic Abnormalities	Associate	30591517, 34112235
Lymphatic Metastasis	Stimulate	20954287
Lymphatic Metastasis	Associate	22033276, 25550888, 28453696, 29704890, 29901149, 31638213, 33127935, 34454403, 37628868
Lymphedema	Associate	25424831, 25681199, 26637981, 30947262, 33964933, 34112235, 34170046, 34887309, 35094709, 35787784, 37705207
Lymphoma	Associate	25096023, 34325497
Lymphoma B Cell Marginal Zone	Associate	21660567
Lymphoma Follicular	Associate	30569174
Lymphoma Large B Cell Diffuse	Associate	24418330, 35483878, 36567775
Lymphoma Mantle Cell	Associate	23341541
Lymphoma Non Hodgkin	Associate	34483300, 34597458
Lymphoma Primary Effusion	Associate	19608668
Lymphoma T Cell	Associate	35562412
Malignant Teratocarcinosarcoma	Associate	34667073
Mammary Neoplasms Animal	Associate	20581867, 27629725, 32929011
MASS syndrome	Associate	33023600
Median Neuropathy	Associate	37067587
Medulloblastoma	Associate	25915540
Megalancephaly Polymicrogyria Polydactyly Hydrocephalus Syndrome	Associate	22729224, 32778138, 33958329, 34969807
Megalencephaly	Associate	22729224, 24497998, 24782230, 24939587, 25557259, 25722288, 25915946, 26593112, 28502725, 29296277, 29549527, 30231930, 31290289, 31729162, 32778138, 33958329, 34887308, 34969807, 35483878, 35551640, 35857185, 37974153
Megalodactyly	Associate	23100325, 24782230, 25557259, 26851524, 31481664, 32632138, 33054853, 37067587, 37452404
Melanoma	Associate	19383818, 21169255, 22475322, 25627962, 28870692, 31277584
Melanoma Cutaneous Malignant	Associate	26744134
Melorheostosis	Associate	28434888
Meningeal Neoplasms	Associate	32605662
Meningioma	Associate	26826201, 27548314, 29206892, 33087175
Mesenteric Cyst	Associate	24903541
Mesothelioma Malignant	Associate	20839315, 25514803
Metaplasia	Associate	28731047
Methylcobalamin Deficiency CblG Type	Stimulate	29259101
Microsatellite Instability	Associate	18782444, 25641861, 33054840
Mixed Tumor Mesodermal	Associate	25078343
Mouth Diseases	Associate	24186142, 27834349, 31036078, 32473611, 32792599, 36812689
Mouth Neoplasms	Associate	25631445, 26191320, 29037125
Mucolipidoses	Associate	22460814
Multiple Myeloma	Associate	24405121, 27559096
Multiple Sclerosis Relapsing Remitting	Associate	37047371
Muscle Neoplasms	Associate	30919936, 34606700
Musculoskeletal Diseases	Associate	37452404
Myelodysplastic Syndromes	Associate	40442218
Nasopharyngeal Carcinoma	Associate	19027487, 19735264, 25963410, 26581613, 28581676, 30950204, 35562651
Nausea	Associate	35138919
Neoplasm Invasiveness	Associate	18084252, 18829572, 22460814, 24186142, 24887297, 27512948, 32098697, 35877198
Neoplasm Metastasis	Associate	19735264, 20604919, 20954287, 21490305, 22330809, 23248156, 24175786, 24229379, 24500602, 24863535, 24947048, 26358014, 26943031, 26991109, 27220763, 27756406, 28446508, 28637905, 29106415, 29666387, 30029640, 30054102, 30085422, 31221662, 31341365, 31982351, 32326897, 33031197, 33441174, 33539547, 33722295, 34033220, 34183353, 34268930, 34454403, 34876602, 34997317, 35614407, 36800542, 37394872, 37469254, 37715134, 37784176, 37980588, 39197004, 40536266
Neoplasms	Associate	11438664, 15784156, 16150444, 16168105, 16533766, 16721043, 16778113, 17050665, 17052259, 17314276, 17409929, 17541179, 17669465, 17673550, 17990317, 18371219, 18376308, 18676830, 18757405, 18782444, 18829572, 19027487, 19029838, 19234438, 19237633, 19261849, 19357772, 19573809, 19603024, 19706770, 19729658, 19735264, 19844234, 19962660, 20042122, 20098682, 20124458, 20169162, 20173732, 20398348, 20551053, 20551061, 20581867, 20616362, 20664172, 20664174, 20855837, 20866085, 21072204, 21103049, 21209903, 21216929, 21225506, 21303542, 21331593, 21335596, 21425139, 21430269, 21473780, 21490305, 21563232, 21667306, 21708979, 21829508, 21876152, 21909130, 21990951, 22020193, 22064833, 22071650, 22090358, 22095222, 22135231, 22285706, 22292935, 22330809, 22357840, 22363436, 22421194, 22454081, 22460814, 22495314, 22522847, 22536362, 22538770, 22550168, 22552288, 22658544, 22675565, 22729222, 22736407, 22798500, 22949056, 22975805, 22994622, 23013731, 23028762, 23049944, 23056620, 23066039, 23085752, 23125007, 23144797, 23196793, 23233531, 23248156, 23300780, 23319332, 23374602, 23384718, 23392229, 23408974, 23470635, 23526884, 23533233, 23541593, 23612454, 23619167, 23636398, 23643389, 23674493, 23709421, 23778141, 23785428, 23892273, 23895914, 23907151, 23971979, 23982433, 23992303, 24006859, 24092809, 24107445, 24175777, 24186142, 24231454, 24241346, 24258618, 24339949, 24440717, 24467828, 24498881, 24504125, 24518503, 24533074, 24599934, 24663045, 24664487, 24671188, 24722917, 24737664, 24835989, 24846037, 24867389, 24874471, 24885062, 24889489, 24910434, 24943349, 24947048, 24981670, 24983247, 25007143, 25054828, 25056374, 25079317, 25096023, 25120743, 25220666, 25340423, 25343854, 25367220, 25394778, 25404506, 25422220, 25424831, 25473901, 25490678, 25539732, 25549537, 25550888, 25559813, 25576899, 25583473, 25623215, 25712460, 25714871, 25722288, 25738363, 25757876, 25816324, 25835181, 25839328, 25851630, 25970776, 25985019, 25994739, 26004083, 26080840, 26085511, 26099045, 26122737, 26125431, 26184520, 26197069, 26271341, 26301495, 26317216, 26334097, 26336887, 26353837, 26392535, 26400668, 26435479, 26452060, 26498688, 26525104, 26625196, 26637981, 26645239, 26655088, 26691984, 26701847, 26722541, 26743283, 26743471, 26759717, 26791794, 26796526, 26810975, 26823766, 26864072, 26873401, 26889984, 26922062, 26992457, 27057633, 27060149, 27070496, 27074743, 27095573, 27108388, 27126994, 27129168, 27151654, 27155741, 27161491, 27174587, 27174596, 27188206, 27219019, 27255162, 27270441, 27283966, 27302833, 27310202, 27374168, 27379604, 27405731, 27426982, 27489350, 27491860, 27491861, 27511117, 27529345, 27554588, 27629725, 27672107, 27713420, 27749841, 27785980, 27791010, 27834349, 27852700, 28002804, 28029147, 28036259, 28060271, 28068936, 28139702, 28179590, 28183140, 28196852, 28199989, 28263318, 28269754, 28327908, 28330462, 28330468, 28392480, 28393905, 28415744, 28446466, 28453696, 28489996, 28490463, 28513830, 28556593, 28597653, 28619094, 28731050, 28749946, 28755461, 28783718, 28807936, 28874413, 28936923, 28961834, 28970292, 29072370, 29106415, 29110152, 29138025, 29180604, 29206892, 29231959, 29353061, 29353467, 29434452, 29454754, 29470143, 29500843, 29505425, 29518290, 29540052, 29559730, 29571084, 29611022, 29614442, 29636477, 29654067, 29689598, 29739401, 29793946, 29895933, 29941343, 29946183, 30012111, 30018674, 30075505, 30085422, 30115035, 30180809, 30239581, 30289966, 30308388, 30427539, 30428062, 30485824, 30563911, 30613307, 30647454, 30652258, 30703342, 30704511, 30723140, 30747208, 30805870, 30806788, 30813596, 30837681, 30843621, 30867034, 30870501, 30898102, 30948643, 31147675, 31163957, 31250151, 31254443, 31277699, 31305404, 31312661, 31341365, 31387923, 31391067, 31395065, 31427592, 31472672, 31534501, 31538770, 31548566, 31609466, 31638213, 31665050, 31698611, 31699932, 31714586, 31781598, 31837432, 31855952, 31952518, 31980592, 31991072, 32019278, 32067679, 32087721, 32091409, 32107691, 32123305, 32322022, 32326897, 32342665, 32397063, 32404150, 32426915, 32441866, 32473611, 32504034, 32520976, 32544169, 32585451, 32599986, 32616873, 32620236, 32631391, 32671987, 32733937, 32772458, 32859279, 32881280, 32886682, 32892208, 32898185, 32929011, 33004031, 33024200, 33044511, 33051521, 33054840, 33066758, 33082214, 33166334, 33168657, 33186471, 33186740, 33191407, 33207767, 33243007, 33272240, 33293374, 33386585, 33389015, 33407425, 33529175, 33541297, 33602685, 33622519, 33692304, 33741979, 33772212, 33782032, 33827485, 33893289, 33933102, 33942853, 34014970, 34033220, 34075207, 34183353, 34238613, 34325497, 34342838, 34377593, 34392186, 34403504, 34421886, 34436017, 34455214, 34479035, 34480095, 34496925, 34507989, 34591612, 34591613, 34635506, 34697060, 34728807, 34762647, 34779821, 34791601, 34842356, 34876124, 34876496, 35133871, 35138919, 35142162, 35176763, 35179782, 35242279, 35253909, 35256486, 35272946, 35317488, 35323317, 35365770, 35442400, 35562651, 35562750, 35583555, 35621626, 35681111, 35778737, 35778969, 35794510, 35877198, 35978873, 36037157, 36163440, 36183486, 36221415, 36229517, 36243681, 36245368, 36279023, 36307835, 36343266, 36472769, 36518248, 36522586, 36567775, 36569594, 36595567, 36602798, 36626159, 36631725, 36635288, 36661655, 36763589, 36788078, 36800542, 36816543, 36835617, 36857998, 36934165, 36949939, 37002487, 37053535, 37101291, 37106324, 37145128, 37231433, 37388735, 37434223, 37454130, 37463468, 37477495, 37567101, 37607916, 37634629, 37685923, 37784176, 37893593, 37908048, 37935787, 37965796, 37972068, 37974218, 38017109, 38042496, 38049758, 38117494, 38150257, 38231165, 38275291, 38279318, 38330461, 38518529, 38531793, 38603927, 38606821, 39191495, 39208653, 39255351, 39342926, 39369516, 39492056, 39521246, 39849870, 40107157, 40121945, 40456875, 40472482, 40536266, 40597213, 40629431
Neoplasms	Inhibit	17329971, 21744334, 23803025, 34944094, 36282188, 39776897
Neoplasms	Stimulate	18335034, 26884879
Neoplasms Adipose Tissue	Associate	22729222
Neoplasms Cystic Mucinous and Serous	Associate	18516290, 19272638, 22675430, 22923510, 23174937, 23785428, 24518503, 25078343, 33475035, 33947352
Neoplasms Fibroepithelial	Associate	32322022
Neoplasms Neuroepithelial	Associate	31036078
Neoplasms Radiation Induced	Associate	36788076
Neoplasms Second Primary	Associate	36717819
Neoplasms Squamous Cell	Associate	22071650, 25348872, 30316684, 31775759, 36071046, 36835617, 40244261
Neuroblastoma	Associate	23900341, 25293506, 31698611
Neurodegenerative Diseases	Associate	36229517
Neuroendocrine Tumors	Associate	27994516, 28800359, 33144445
Nevus	Associate	17673550, 22499344, 24346875, 24782230, 25557259, 29549527
Nevus Sebaceous of Jadassohn	Associate	24346875
Non Muscle Invasive Bladder Neoplasms	Associate	21072204, 33388091, 37477495, 40109859
Nonseminomatous germ cell tumor	Associate	30659078
Obesity	Inhibit	33197880
Oculocerebrorenal Syndrome	Associate	24597478
Oculocutaneous albinism type 2	Associate	25047029
Odontoma	Associate	25681199, 32711543, 35094709
Oral Submucous Fibrosis	Associate	38050610
Oropharyngeal Neoplasms	Associate	23408298, 23852799, 24341335, 30185662
Osteoarthritis	Associate	31886215
Osteoarthritis Knee	Associate	32052902
Osteoporosis	Associate	38364892
Osteosarcoma	Associate	22006429, 24175786, 26036761
Otitis Media	Associate	19638206
Ovarian Diseases	Associate	19349352, 21216929, 36800542
Ovarian Neoplasms	Associate	15028555, 16721043, 18335034, 19029838, 19240718, 19349352, 19638206, 20826764, 21216929, 21563232, 21744334, 21931712, 22271473, 22556379, 23174937, 23408974, 24023729, 24336158, 24338723, 24523919, 25394645, 25545608, 25692284, 26937756, 26945423, 27426307, 27791010, 27892457, 28415744, 28734796, 28888422, 29169370, 29793804, 31030485, 31054497, 31340883, 31538426, 31748433, 31902686, 32139151, 32473611, 32585451, 32599986, 32616873, 32650224, 33020491, 33273524, 33475035, 33723724, 34172890, 34697060, 34944094, 35735430, 35761259, 35816189, 36289203, 36311816, 36721777, 36828346, 37185420, 37272300, 37567101, 37628682, 38606821, 39336800
Paget Disease Extramammary	Associate	22522847, 31899853
Paget's Disease Mammary	Associate	31899853
Pain	Associate	37380669
Pancreatic Cyst	Associate	26253305, 28970292
Pancreatic Intraductal Neoplasms	Associate	16778113, 18343945, 18376308, 19440799, 24132918, 24518503, 27566563, 28776573, 30836094
Pancreatic Neoplasms	Associate	16778113, 18343945, 23342270, 24518503, 26091808, 27525871, 30348712, 31160355, 34033220, 35583261, 37685923
Papilloma	Associate	25056374, 29454754, 30838648
Papilloma Intraductal	Associate	31896809
Papillomavirus Infections	Associate	31437519, 33318584
Parathyroid Neoplasms	Associate	30373905
Parkinson Disease	Associate	33504893, 37803093
Parotitis	Associate	27105424
Paroxysmal nonkinesigenic dyskinesia	Associate	30018674
Penile Neoplasms	Associate	29902261, 35253909
Peritoneal Neoplasms	Associate	26811494, 26925640
Peritonitis	Associate	26701847, 32166754
Personality Disorders	Associate	19261849, 30442683
Pharyngeal Neoplasms	Associate	16533766, 17990317, 24511546, 26889984
Phyllodes Tumor of the Prostate	Associate	27255162
Pituitary Neoplasms	Associate	22782554
Pleural Effusion	Associate	31534501
Poikiloderma with Neutropenia	Associate	25093594, 33318517
Polycystic Kidney Diseases	Associate	34410594
Polydactyly	Associate	24497998, 37452404
Polydactyly Preaxial III	Associate	30180809
Polymicrogyria	Associate	33958329
Polypoidal Choroidal Vasculopathy	Associate	24418330
Polyps	Associate	18782444, 29453410
Poroma	Associate	21423156, 23056620, 26452060, 29443014
Port Wine Stain	Associate	37658401
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22675565
Prodromal Symptoms	Associate	28694672, 33191115
Prostate cancer familial	Associate	18829572, 29206892
Prostatic Neoplasms	Associate	19443396, 22981675, 23892273, 24352642, 26887047, 30339521, 33247697
Prostatic Neoplasms Castration Resistant	Associate	30620391
Prostatitis	Associate	21113138
Proteus Syndrome	Associate	24782230, 29549527, 31371346, 33054853, 37658401, 40713644
Pseudomyxoma Peritonei	Associate	30692096
Pulmonary Disease Chronic Obstructive	Associate	26617776, 31481045
Pulmonary Emphysema	Associate	31481045
Radiation Pneumonitis	Associate	26645682
Recombinant chromosome 8 syndrome	Associate	36709040
Rectal Neoplasms	Associate	19903790, 20622004, 23617638, 26134512, 26553611, 30085422, 36142267
Recurrence	Associate	37715134
Respiratory Insufficiency	Associate	31158500
Respiratory Tract Infections	Associate	34050578
Retinoblastoma	Associate	17604597, 32323827
Retroperitoneal Neoplasms	Associate	35787784
Rhabdoid Tumor Predisposition Syndrome 1	Associate	17506723
Rhabdomyosarcoma	Associate	24641407, 24824843
Rhabdomyosarcoma Alveolar	Associate	24641407
Rhabdomyosarcoma Embryonal	Associate	22142829, 27562493
Salivary Duct Calculi	Associate	24511546, 25343854, 26053092, 27103403, 30289966, 30946933, 31609094, 32457410, 32929114
Salivary Gland Neoplasms	Associate	26247885
Sarcoma	Associate	33503190
Sarcoma Ewing	Associate	25119929
Scleroderma Systemic	Associate	28434888
Scoliosis	Associate	29549527, 34887309
Segmentation syndrome 1	Associate	25044986, 26851524, 30231930, 32500425
Seizures	Associate	34102393
Shock Septic	Associate	37359526
SHORT syndrome	Associate	28143957
Shwachman Diamond Syndrome	Associate	29549527
Sick Sinus Syndrome	Associate	18371219, 28453696
Simpson Golabi Behmel syndrome	Associate	22729222, 24782230, 25424831, 25557259, 25915946, 26593112, 26637981, 27631024, 28151489, 28502725, 28525374, 28892148, 29231959, 29300373, 29549527, 30063105, 30180809, 30231930, 30270358, 30919936, 30948643, 31290289, 31481664, 31490637, 31692258, 31909475, 32299688, 32500425, 32620236, 32778138, 33639990, 34040190, 34112235, 34170046, 34606700, 34887308, 34887309, 34980271, 35080595, 35526022, 35551640, 35778969, 35857185, 36472769, 37365400, 37658401, 38136956, 39354592
Skin Neoplasms	Associate	17673550
Skull Base Neoplasms	Associate	33087175
Small Cell Lung Carcinoma	Associate	18757405, 22949056, 24978188, 25122428, 27079212, 27629725, 30550363, 35641209, 36583000, 40345896
Smoke Inhalation Injury	Associate	36806529
Smoke Inhalation Injury	Stimulate	40345896
Somatoform Disorders	Associate	25557259, 30761771, 31585106
Spinocerebellar Degenerations	Associate	32772458
Squamous Cell Carcinoma of Head and Neck	Associate	16533766, 16622441, 17052259, 20557351, 20813562, 21216929, 21631644, 21798893, 21798897, 22994622, 23451093, 23619167, 23803025, 23873848, 24224046, 24278325, 24341335, 24425785, 24511546, 24599934, 25056374, 25234657, 25275298, 25631445, 25855885, 25980437, 26271341, 26614708, 26722541, 26889984, 27329726, 27528217, 27793210, 27889930, 28134774, 28435450, 28637905, 29053175, 29377909, 29700339, 29747488, 30527230, 30548484, 30647454, 30933315, 31090975, 31093971, 31393061, 31427592, 32296588, 32892208, 34072735, 34598035, 35142162, 35546399, 36245368, 36522371, 37004423, 37080394, 37088660, 37340028
Squamous Intraepithelial Lesions	Associate	36800542, 40204232
Stenosis Pulmonary Artery	Associate	39354592
Stomach Diseases	Associate	20398348
Stomach Neoplasms	Associate	15784156, 20398348, 20954287, 21990951, 22292935, 22723903, 23196062, 24597478, 24774510, 25079317, 25882375, 25886409, 26107192, 26213461, 26334097, 26701847, 26811494, 27156070, 28039579, 28453696, 28522256, 28640116, 29704890, 29905413, 30747208, 30837539, 31312661, 31781598, 32020871, 32107691, 32460412, 33457080, 33511732, 33827485, 33933102, 34075207, 34873204, 34916374, 37493631, 38050871
Sturge Weber Syndrome	Associate	37658401
Syndactyly	Associate	24497998, 26851524
Teratoma Ovarian	Associate	39336800
Tertiary Lymphoid Structures	Associate	19735264, 26452060, 28269754, 37195967
Testicular Germ Cell Tumor	Associate	30870501
Thoracic Neoplasms	Associate	39560927
Thrombocytopenia	Associate	21890452
Thrombosis	Associate	31490637
Thyroid cancer follicular	Associate	23185308, 31248021
Thyroid Cancer Papillary	Associate	28052655, 28755461, 29214440, 29603332
Thyroid Carcinoma Anaplastic	Associate	25576899, 30758123, 31235699, 32284020, 33599171
Thyroid Neoplasms	Associate	18831514, 19487299, 21289267, 22090271, 23185308, 23979959, 25576899, 31235699, 33539547, 38275291, 39926346
Thyroid Nodule	Associate	39336800
Tics	Associate	31630873
Tonsillar Neoplasms	Associate	28525363
Triple Negative Breast Neoplasms	Associate	22538770, 25056374, 25296970, 25467032, 26051240, 26353837, 26540293, 26680641, 26806567, 26939876, 27915434, 30227836, 30613307, 30813596, 31270600, 31527768, 32019278, 32042320, 32067679, 32404150, 32438621, 32441016, 32504034, 32958578, 33227964, 34396843, 34415239, 34944094, 34997317, 35384527, 35431224, 35450798, 35562750, 36381235, 36626159, 36788078, 36863843, 36870308, 37231433, 37259036, 37980588, 38049758, 38164185
Triple Negative Breast Neoplasms	Inhibit	27806348
Tuberculosis Multidrug Resistant	Associate	25550888, 31952518
Turcot syndrome	Associate	32620917
Turner Syndrome	Associate	37705207
Unilateral Breast Neoplasms	Stimulate	31848314
Upper Extremity Deformities Congenital	Associate	30919936
Urachal adenocarcinoma	Associate	35731998
Urachal cancer	Associate	27283768
Urethral Neoplasms	Associate	21533174, 22553347, 23887298, 26039708, 32532529, 32767682, 35731998, 39596194
Urinary Bladder Diseases	Associate	33743689
Urinary Bladder Neoplasms	Associate	21072204, 22895070, 25997541, 26901314, 27611947, 28060766, 28753770, 29353467, 30941989, 31233191, 31393349, 31665050, 32012118, 33400797, 34421886, 34980012, 35317488, 35323317, 36806529, 37477495, 40603329
Urologic Neoplasms	Associate	38555943
Uterine Cervical Dysplasia	Associate	25220666, 25738363, 29902261
Uterine Cervical Neoplasms	Associate	21663621, 24037752, 24390348, 25426553, 25669975, 26080840, 26155992, 26358014, 27489350, 27998038, 28036259, 30075505, 30952619, 31350972, 32098697, 32951893, 33127935, 33736612, 34012039, 35038823, 35205332, 36333792, 37469254, 39557107
Uterine Cervicitis	Associate	21216929
Uterine Diseases	Associate	21216929, 22271473
Uterine Neoplasms	Associate	21829508
Vascular Diseases	Associate	38136956
Vascular Malformations	Associate	24782230, 25557259, 25681199, 27631024, 29549527, 30063105, 30180809, 34074347, 34887309, 35483878, 35526022, 37380669, 37658401, 38136956
Vascular System Injuries	Associate	34887309
Venous Malformations Multiple Cutaneous and Mucosal	Associate	26637981, 35094709, 35688571, 37658401, 38367816
Vertebral body fusion overgrowth	Associate	27631024
Virus Diseases	Associate	26795696
Vulvar Diseases	Associate	27834349, 29422544, 32427961, 32792599
Waardenburg syndrome type 2	Associate	36038884
Weight Loss	Associate	27033063
Wilms Tumor	Associate	29231959
Wyburn Mason's syndrome	Associate	34887309
Xanthomatosis Cerebrotendinous	Associate	39557107