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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal cardiovascular system morphology	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913274, rs121913284, rs121913288, rs1057519925, rs1057519929, rs121913273, rs121913272, rs587776932, rs397517201	RCV001327968 RCV001327963 RCV001327964 RCV001327959 RCV001327967 RCV001327961 RCV001327958 RCV001327962 RCV001327960 RCV001327966 RCV001327965
Abnormal cerebral morphology	Pathogenic	rs121913287, rs587776932	RCV002275002 RCV002274888
Abnormality of the hairline	Pathogenic	rs1057519942	RCV000852337
Adenocarcinoma of the large intestine	Likely pathogenic; Pathogenic	rs104886003	RCV006253574
Adenoid cystic carcinoma	Pathogenic	rs121913279	RCV006253559
Alveolar rhabdomyosarcoma	Pathogenic	rs121913273	RCV006253682
Angioosteohypertrophic syndrome	Likely pathogenic; Pathogenic	rs2108424902, rs587777790, rs104886003, rs1064793732, rs587776932, rs1724507777, rs1724343994	RCV001526502 RCV002254279 RCV004527293 RCV002254298 RCV002254272 RCV006272147 RCV004527420
Arteriovenous malformation	Likely pathogenic	rs2473557457	RCV004527554
Astrocytoma IDH-mutant	Pathogenic	rs1242945375	RCV006254276
Breast adenocarcinoma	Pathogenic; Likely pathogenic	rs121913279, rs121913286, rs104886003	RCV000014622 RCV000014629 RCV000014630 RCV000014631
Breast carcinoma	Pathogenic	rs121913279	RCV003128082
Capillary malformation	Pathogenic	rs121913275, rs121913272, rs1724507777	RCV003485561 RCV001526612 RCV003485684
Capillary malformation-arteriovenous malformation 1	Likely pathogenic	rs2473887956	RCV004527555
Carcinoma of colon	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913274, rs121913286	RCV000014624 RCV000014633 RCV000014637 RCV000014640
Cavernous lymphangioma	Pathogenic	rs121913279	RCV006253563 RCV004527292
Cerebral cavernous malformation	Likely pathogenic; Pathogenic	rs104886003	RCV006253568
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC	Pathogenic	rs121913279, rs121913273	RCV001728091 RCV001728092 RCV001728093
Cerebrofacial Vascular Metameric Syndrome (CVMS)	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913273	RCV001730472 RCV001730473 RCV001730477
CLAPO syndrome	Likely pathogenic; Pathogenic	rs200018596, rs121913279, rs121913273, rs121913272, rs1560137208	RCV000709696 RCV001729349 RCV000709692 RCV000709693 RCV000709694 RCV000709697
CLOVES syndrome	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs2108390250, rs121913287, rs1057519925, rs1057519929, rs121913273, rs121913272, rs587776932, rs121913281, rs397517199, rs397517202, rs1724507777, rs1724343994	RCV000024621 RCV000032905 RCV001262721 RCV003990433 RCV004767253 RCV001526693 RCV001526599 RCV000024622 RCV000024623 RCV004798751 RCV002226661 RCV001256198 RCV001526503 RCV001526537 RCV003447584
Colon adenocarcinoma	Pathogenic	rs121913272	RCV006253687
Colorectal cancer	Pathogenic	rs121913279, rs121913272, rs1724405916	RCV006253558 RCV001807728 RCV005603590 RCV001293838
Congenital fibrosarcoma	Likely pathogenic; Pathogenic	rs104886003	RCV006253572
Congenital macrodactylia	Pathogenic	rs121913279	RCV001526648
Cowden syndrome	Likely pathogenic; Pathogenic	rs2108425281, rs121913277, rs587777790, rs2108429509, rs121913283, rs863225060, rs121913275, rs886042002, rs121913287, rs121913288, rs1057519925, rs867262025, rs1057519929, rs1057519942, rs121913273, rs121913272, rs1064793732, rs1064793838, rs587776932, rs397514565, rs121913281, rs587776933	RCV001366657 RCV002043221 RCV002512561 RCV005095870 RCV000699681 RCV001221647 RCV000631214 RCV002517302 RCV001859541 RCV001224952 RCV001851016 RCV001861479 RCV001851018 RCV002524695 RCV000631216 RCV002513230 RCV003588566 RCV000798360 RCV001856831 RCV001852661 RCV000806643 RCV000698423 RCV003588567
Cowden syndrome 1	Pathogenic; Likely pathogenic	rs121913279, rs1576947658	RCV000987367 RCV000987366
Cowden syndrome 5	Pathogenic	rs587777790, rs587777791, rs587777792, rs587777793, rs587777796, rs121913287, rs1057519942, rs1064793663, rs587776932	RCV000144506 RCV000144507 RCV000144508 RCV000144509 RCV000144512 RCV003995942 RCV000767535 RCV005252905 RCV001594376
Diaphragmatic eventration	Pathogenic	rs1057519942	RCV000852337
Diffuse glioma, H3 G34 mutant	Pathogenic	rs587777790, rs121913279, rs121913286	RCV006253827 RCV006253564 RCV006253579
Diffuse midline glioma, H3 K27M-mutant	Pathogenic; Likely pathogenic	rs121913279, rs121913286, rs121913284, rs1057519941, rs121913273, rs121913272, rs397514565, rs121913281	RCV006253562 RCV006253566 RCV006253577 RCV006253977 RCV006254016 RCV006253686 RCV006253689 RCV006253701 RCV006253702
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Likely pathogenic; Pathogenic	rs121913277, rs587777790, rs121913279, rs397517201, rs121913287, rs121913288, rs867262025, rs1553821144	RCV006254319 RCV006253826 RCV006253561 RCV006253953 RCV006253973 RCV006253994 RCV006254011 RCV006254115
Dysembryoplastic neuroepithelial tumor	Pathogenic	rs587777790, rs121913274, rs867262025	RCV006253828 RCV006253580 RCV006254012
Eccrine angiomatous hamartoma	Likely pathogenic; Pathogenic	rs104886003	RCV001786329
Embryonal rhabdomyosarcoma	Pathogenic; Likely pathogenic	rs587777790, rs886042002, rs121913279, rs104886003, rs1724343994	RCV006253825 RCV006253937 RCV006253560 RCV006253571 RCV006254260
Endometrial carcinoma	Likely pathogenic	rs1553826166	RCV000587402
Epidermal nevus	Pathogenic	rs121913274, rs397514565	RCV000014638 RCV005229840
Familial cancer of breast	Likely pathogenic	rs1560137609	RCV000714876
Gallbladder cancer	Likely pathogenic; Pathogenic	rs104886003	RCV001374447
Gastric cancer	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs587776802	RCV002508124 RCV002508125 RCV002508126
Giant cell glioblastoma	Pathogenic; Likely pathogenic	rs121913287, rs1724343994	RCV006253975 RCV006254261
Glioma	Pathogenic	rs121913279, rs121913273	RCV006253557 RCV006253683
Global developmental delay	Pathogenic	rs1064793663	RCV002464207
Glycogen storage disease, type II	Likely pathogenic	rs1724954436	RCV001270431
HEMIFACIAL MYOHYPERPLASIA, SOMATIC	Likely pathogenic; Pathogenic	rs104886003, rs121913273, rs121913281	RCV003764575 RCV003764635 RCV003882732
Hemihypertrophy	Pathogenic	rs121913279	RCV001526597
Hepatocellular carcinoma	Pathogenic; Likely pathogenic	rs121913279, rs587776802, rs121913274	RCV000014626 RCV000014641 RCV000014643
Hypertelorism	Pathogenic	rs1057519942	RCV000852337
Hypospadias	Pathogenic	rs1064793663	RCV002464207
IDH-wildtype glioblastoma	Likely pathogenic; Pathogenic	rs104886003, rs121913272	RCV006253575 RCV006253691
Immature ovarian teratoma	Pathogenic	rs121913272	RCV006253692
Intestinal duplication	Pathogenic	rs1057519942	RCV000852337
Keratoacanthoma	Pathogenic	rs587777790	RCV001849317
Klippel-Trenaunay-like-Syndrome	Pathogenic	rs121913279	RCV003325939
Lip and oral cavity carcinoma	Pathogenic	rs121913279, rs1057519927, rs121913273	RCV001255686 RCV001255685 RCV001255687
Lymphatic malformation	Pathogenic; Likely pathogenic	rs2108430158, rs104886003	RCV001533202 RCV006253569
Macrocephaly	Pathogenic	rs1064793663	RCV002464207
Macrodactyly of toe	Pathogenic	rs121913279	RCV000626894
MACRODACTYLY, SOMATIC	Likely pathogenic; Pathogenic	rs200018596, rs121913279	RCV000709695 RCV000709691
Malignant tumor of urinary bladder	Pathogenic	rs2108429797	RCV003332975
Medulloblastoma WNT activated	Likely pathogenic; Pathogenic	rs121913283, rs121913279, rs104886003, rs121913274, rs121913286, rs121913287, rs121913272, rs1724507777	RCV006253845 RCV006253567 RCV006253573 RCV006253576 RCV006253578 RCV006253974 RCV006253690 RCV006254201
Megalencephaly, autosomal dominant	Pathogenic	rs1057519942	RCV000852337
Megalencephaly-capillary malformation-polymicrogyria syndrome	Likely pathogenic; Pathogenic	rs2108424902, rs200018596, rs1242945375, rs1724342112, rs1724674149, rs1057519936, rs121913283, rs1278986760, rs2108413895, rs121913275, rs863225460, rs886042002, rs121913279, rs104886003, rs121913286, rs121913287, rs121913285, rs121913277, rs1057519925, rs867262025, rs1057519929, rs1057519938, rs121913273, rs1064793349, rs1064793732, rs587776932, rs397514565, rs121913281, rs587776933, rs1576935161, rs1724507777	RCV002464456 RCV001526501 RCV001526504 RCV005253861 RCV001807938 RCV001808924 RCV001526545 RCV002468764 RCV002468765 RCV001775099 RCV000202414 RCV001353357 RCV001807727 RCV001253236 RCV000055930 RCV004698784 RCV003225067 RCV001775117 RCV002051848 RCV000991209 RCV003152707 RCV001542570 RCV002051723 RCV004698785 RCV001849378 RCV001526558 RCV000032907 RCV000032908 RCV000032909 RCV000032910 RCV001775154 RCV001072146 RCV003225150
Melanoma	Pathogenic	rs1553821144	RCV006254114
Nasopharyngeal carcinoma	Pathogenic	rs121913279	RCV006253556
Neoplasm	Likely pathogenic; Pathogenic	rs2108425281, rs1724342112, rs587777790, rs886042002, rs121913279, rs104886003, rs121913286, rs121913274, rs397517201, rs121913287, rs121913284, rs121913285, rs121913288, rs1057519925, rs867262025, rs1057519929, rs772110575, rs1057519941, rs121913273, rs121913272, rs1064793732, rs397517199, rs1724674149, rs1724343994	RCV006274210 RCV005232626 RCV006273563 RCV005230225 RCV000438435 RCV004668728 RCV004668729 RCV006273054 RCV006273055 RCV005230286 RCV004668930 RCV005230292 RCV005230295 RCV006273725 RCV006273732 RCV006273733 RCV005230297 RCV004668950 RCV005230298 RCV004668742 RCV004668743 RCV006273822 RCV004668761 RCV004668762 RCV005232115 RCV005232238
Neuroblastoma	Pathogenic	rs121913279, rs121913272, rs1064793663	RCV006253555 RCV006253688 RCV006254062
Non-small cell lung carcinoma	Likely pathogenic; Pathogenic	rs121913283, rs121913279, rs104886003, rs121913273, rs121913281, rs397517200, rs397517202	RCV000155959 RCV000014627 RCV000038671 RCV000154513 RCV000038675 RCV000038670 RCV000038673
Noonan syndrome 8	Pathogenic	rs1057519938	RCV002051723
OVARIAN CANCER, EPITHELIAL, SOMATIC	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913286	RCV000014623 RCV000014632 RCV000014639
Ovarian neoplasm	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913286, rs121913274, rs397517201, rs121913287, rs121913273, rs1057519925, rs1057519941, rs121913272, rs1064793732	RCV000154516 RCV000422323 RCV000422210 RCV000436582 RCV000154515 RCV000785567 RCV000785354 RCV000785596 RCV000785580 RCV000785595 RCV000151649 RCV000154512 RCV000785369 RCV000038672
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Likely pathogenic; Pathogenic	rs1724342112, rs121913279, rs867262025, rs772110575, rs121913273, rs587776932, rs1724343994	RCV005429355 RCV001836707 RCV001836817 RCV003993951 RCV001836714 RCV001836717 RCV001836980
PIK3C1-related disorder	Pathogenic	rs587776932	RCV005222712
PIK3CA overgrowth syndrome	Likely pathogenic; Pathogenic	rs104886003, rs121913281	RCV004698419 RCV004698336
PIK3CA related overgrowth syndrome	Likely pathogenic; Pathogenic	rs200018596, rs1242945375, rs1724342112, rs2108429272, rs587777790, rs2108429509, rs121913283, rs1278986760, rs863225060, rs121913275, rs2108424082, rs2473511125, rs2473524076, rs121913279, rs121913286, rs104886003, rs121913274, rs587776802, rs2473511270, rs397517201, rs121913287, rs121913284, rs1057519925, rs867262025, rs1057519929, rs1057519942, rs121913273, rs121913272, rs1064793349, rs1064793732, rs587776932, rs397514565, rs121913281, rs1553821144, rs397517199, rs397517202, rs1560137609, rs1576935161, rs1724341846, rs1724343994, rs1432181034	RCV003458229 RCV003234076 RCV002271660 RCV002472380 RCV004719712 RCV003157111 RCV000201237 RCV005251326 RCV000201238 RCV000201236 RCV000201234 RCV003233340 RCV003458258 RCV003458278 RCV000201231 RCV000201235 RCV005251037 RCV001290591 RCV004562209 RCV000201230 RCV003458189 RCV005862715 RCV004566500 RCV004719812 RCV005251518 RCV002274026 RCV003458198 RCV002472374 RCV003233633 RCV003458199 RCV003985084 RCV003458190 RCV000201232 RCV003233647 RCV005251138 RCV003233078 RCV000201233 RCV003233079 RCV005251158 RCV003458192 RCV003458193 RCV003458194 RCV000714877 RCV003233916 RCV001289462 RCV001289461 RCV001289460
PIK3CA-related disorder	Likely pathogenic; Pathogenic	rs200018596, rs1724342112, rs2108413895, rs863225060, rs1553826166, rs121913279, rs104886003, rs1057519925, rs121913273, rs121913272, rs1064793732, rs587776932, rs397514565, rs587776933, rs397517199, rs1724343994	RCV002280185 RCV004528517 RCV004725294 RCV004737318 RCV004529279 RCV004737153 RCV005867755 RCV002244865 RCV004532404 RCV005867798 RCV004535503 RCV004737167 RCV004532477 RCV006270342 RCV004534818 RCV004727079
PIK3CA-related overgrowth	Pathogenic	rs121913273	RCV003987334
PIK3CA-Related Overgrowth Spectrum Disorders	Pathogenic	rs121913279	RCV005051734
Pilocytic astrocytoma	Pathogenic	rs121913287	RCV006253972
Prostate cancer	Pathogenic	rs121913286	RCV000205164
Rare combined vascular malformation	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913272	RCV004527291 RCV004527295 RCV004527297
Rare venous malformation	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913273, rs1724343994	RCV004527290 RCV004527294 RCV004527296 RCV004527421
Rosette-forming glioneuronal tumor	Likely pathogenic; Pathogenic	rs2108424082, rs121913279, rs104886003, rs121913284, rs121913273	RCV006254367 RCV000487449 RCV006253565 RCV006253570 RCV006253976 RCV006253684
Sarcoma	Likely pathogenic; Pathogenic	rs104886003	RCV000119356
Seborrheic keratosis	Pathogenic; Likely pathogenic	rs121913279, rs104886003	RCV000014628 RCV000014636
See cases	Likely pathogenic; Pathogenic	rs2108424902, rs886042002, rs1553826184	RCV001420201 RCV002287404 RCV003156101
Segmental undergrowth associated with lymphatic malformation	Pathogenic; Likely pathogenic	rs121913279, rs104886003, rs121913272	RCV001705590 RCV001705591 RCV001705599
Segmental undergrowth associated with mainly venous malformation with capillary component	Likely pathogenic; Pathogenic	rs2108424902, rs121913279, rs121913286, rs121913281	RCV001706733 RCV001705589 RCV001705592 RCV001705625
Sialoblastoma	Pathogenic	rs121913281	RCV006253703
Squamous cell lung carcinoma	Likely pathogenic	rs1724363237	RCV001250948
Stroke disorder	Pathogenic	rs121913279	RCV000626894
Vascular malformation	Likely pathogenic; Pathogenic	rs863225060, rs121913273	RCV006253883 RCV006253685

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs587777795	-
Adrenal cortex carcinoma	-	rs2108413471	RCV004813266
Cerebral cavernous malformation 4	Uncertain significance	rs2108386139	RCV003333638
Corpus callosum, agenesis of	Uncertain significance	rs1553820694	RCV000626895
Ectopic tissue	Uncertain significance	rs1553820694	RCV000626895
Facial asymmetry	Conflicting classifications of pathogenicity	rs200627037	RCV000415184
Focal-onset seizure	Uncertain significance	rs1553820694	RCV000626895
Hemimegalencephaly	Conflicting classifications of pathogenicity	rs200627037	RCV000415184
Hereditary cancer-predisposing syndrome	Likely benign; Benign; Uncertain significance	rs117952689, rs116250174, rs869312613, rs3729691, rs747024003, rs73187281, rs570439866, rs869312614, rs869312615, rs869312616, rs561150842, rs869312617, rs141589697, rs199563773, rs761264437, rs1560138278, rs1560138415, rs202013300, rs1427967136, rs1242912405, rs1560147074	RCV000209332 RCV000209534 RCV000208938 RCV000209260 RCV000209709 RCV000209089 RCV000209284 RCV000209612 RCV000209112 RCV000209430 RCV000209603 RCV000209102 RCV000209425 RCV000708944 RCV000708938 RCV000708939 RCV000708940 RCV000708941 RCV000708942 RCV000708943 RCV000708945
Histone Methylation Therapy response	drug response	rs104886003	RCV000626447
Overgrowth	Conflicting classifications of pathogenicity	rs200627037	RCV000415184
Polycystic kidney disease	Uncertain significance	rs749840319	RCV001093608
Rhabdomyosarcoma	-	rs2108400738	RCV001794534
Seizure	Uncertain significance	rs1553820694	RCV000626895

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