Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	144568
Gene name	Alpha-2-macroglobulin like 1
Gene symbol	A2ML1
Synonyms (NCBI Gene)	CPAMD9OMSp170
Chromosome	12
Chromosome location	12p13.31
Summary	This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs182743597	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201562272	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs202067416	G>A,C	Likely-benign, uncertain-significance, pathogenic	Splice donor variant
rs745711489	->CA	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs863224951	->GGCTAAAT	Risk-factor, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1409944554	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant

202

Show/Hide all (202)

miRTarBase ID	miRNA	Experiments	Reference
MIRT648352	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648351	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT680267	hsa-miR-5693	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648350	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT680266	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648351	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648350	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT648352	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648351	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648350	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628793	hsa-miR-3197	HITS-CLIP	23824327
MIRT628792	hsa-miR-6087	HITS-CLIP	23824327
MIRT628791	hsa-miR-6765-5p	HITS-CLIP	23824327
MIRT628790	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628793	hsa-miR-3197	HITS-CLIP	23824327
MIRT628792	hsa-miR-6087	HITS-CLIP	23824327
MIRT628791	hsa-miR-6765-5p	HITS-CLIP	23824327
MIRT628790	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT648352	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648351	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT680267	hsa-miR-5693	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648350	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT680266	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648351	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648350	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT648352	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT648351	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648350	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT631834	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT631833	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628793	hsa-miR-3197	HITS-CLIP	23824327
MIRT628792	hsa-miR-6087	HITS-CLIP	23824327
MIRT628791	hsa-miR-6765-5p	HITS-CLIP	23824327
MIRT628790	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628799	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT628798	hsa-miR-1825	HITS-CLIP	23824327
MIRT628797	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT628796	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT628795	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT628794	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT628793	hsa-miR-3197	HITS-CLIP	23824327
MIRT628792	hsa-miR-6087	HITS-CLIP	23824327
MIRT628791	hsa-miR-6765-5p	HITS-CLIP	23824327
MIRT628790	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT756596	hsa-miR-122	CLIP-seq
MIRT756597	hsa-miR-1224-3p	CLIP-seq
MIRT756598	hsa-miR-1245	CLIP-seq
MIRT756599	hsa-miR-3135	CLIP-seq
MIRT756600	hsa-miR-3135b	CLIP-seq
MIRT756601	hsa-miR-3152-5p	CLIP-seq
MIRT756602	hsa-miR-3545-3p	CLIP-seq
MIRT756603	hsa-miR-3652	CLIP-seq
MIRT756604	hsa-miR-4317	CLIP-seq
MIRT756605	hsa-miR-4430	CLIP-seq
MIRT756606	hsa-miR-4454	CLIP-seq
MIRT756607	hsa-miR-4635	CLIP-seq
MIRT756608	hsa-miR-4680-5p	CLIP-seq
MIRT756596	hsa-miR-122	CLIP-seq
MIRT756597	hsa-miR-1224-3p	CLIP-seq
MIRT756598	hsa-miR-1245	CLIP-seq
MIRT1923123	hsa-miR-216a	CLIP-seq
MIRT756600	hsa-miR-3135b	CLIP-seq
MIRT756602	hsa-miR-3545-3p	CLIP-seq
MIRT756603	hsa-miR-3652	CLIP-seq
MIRT1923124	hsa-miR-3663-5p	CLIP-seq
MIRT756604	hsa-miR-4317	CLIP-seq
MIRT756605	hsa-miR-4430	CLIP-seq
MIRT756606	hsa-miR-4454	CLIP-seq
MIRT756607	hsa-miR-4635	CLIP-seq
MIRT756608	hsa-miR-4680-5p	CLIP-seq
MIRT756596	hsa-miR-122	CLIP-seq
MIRT1923123	hsa-miR-216a	CLIP-seq
MIRT756600	hsa-miR-3135b	CLIP-seq
MIRT2164652	hsa-miR-3187-3p	CLIP-seq
MIRT756602	hsa-miR-3545-3p	CLIP-seq
MIRT756603	hsa-miR-3652	CLIP-seq
MIRT1923124	hsa-miR-3663-5p	CLIP-seq
MIRT2164653	hsa-miR-3919	CLIP-seq
MIRT756604	hsa-miR-4317	CLIP-seq
MIRT756605	hsa-miR-4430	CLIP-seq
MIRT2164654	hsa-miR-4435	CLIP-seq
MIRT756607	hsa-miR-4635	CLIP-seq
MIRT756608	hsa-miR-4680-5p	CLIP-seq
MIRT2164655	hsa-miR-4701-5p	CLIP-seq
MIRT2164656	hsa-miR-4716-5p	CLIP-seq
MIRT2164657	hsa-miR-4755-3p	CLIP-seq
MIRT2164658	hsa-miR-4756-3p	CLIP-seq
MIRT2164659	hsa-miR-4781-3p	CLIP-seq
MIRT2164660	hsa-miR-539	CLIP-seq
MIRT2164661	hsa-miR-548s	CLIP-seq
MIRT2164662	hsa-miR-588	CLIP-seq
MIRT2164663	hsa-miR-944	CLIP-seq
MIRT756596	hsa-miR-122	CLIP-seq
MIRT1923123	hsa-miR-216a	CLIP-seq
MIRT756600	hsa-miR-3135b	CLIP-seq
MIRT756603	hsa-miR-3652	CLIP-seq
MIRT756604	hsa-miR-4317	CLIP-seq
MIRT756605	hsa-miR-4430	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	16298998
GO:0005615	Component	Extracellular space	IEA
GO:0030414	Function	Peptidase inhibitor activity	IDA	16298998
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0052548	Process	Regulation of endopeptidase activity	IDA	16298998
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
610627	23336	ENSG00000166535

A8K2U0

Protein name

Alpha-2-macroglobulin-like protein 1 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9)

Protein function

Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bai

PDB

7Q1Y , 7Q5Z , 7Q60 , 7Q61 , 7Q62

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01835	MG2	121 → 236	MG2 domain	Domain
PF17791	MG3	213 → 304	Macroglobulin domain MG3	Domain
PF17789	MG4	342 → 439	Macroglobulin domain MG4	Domain
PF07703	A2M_BRD	453 → 601	Alpha-2-macroglobulin bait region domain	Domain
PF00207	A2M	736 → 826	Alpha-2-macroglobulin family	Family
PF07678	TED_complement	946 → 1251	A-macroglobulin TED domain	Domain
PF07677	A2M_recep	1362 → 1449	A-macroglobulin receptor binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: In the epidermis, expressed predominantly in the granular layer at the apical edge of keratinocytes (at protein level). Also detected in placenta, testis and thymus but not in epithelia of kidney, lung, small intestine or colon. {ECO:0

Sequence

MWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKD
KTQKLLEYSGLKKRHLHCISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGN
GTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNRIAQWLEVVPEQGI
VDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYVLPKFKVEVVEPKELSTVQESFLVKI
CCRYTYGKPMLGAVQVSVCQKANTYWYREVEREQLPDKCRNLSGQTDKTGCFSAPVDMAT
FDLIGYAYSHQINIVATVVEEGTGVEANATQNIYISPQMGSMTFEDTSNFYHPNFPFSGK
IRVRGHDDSFLKNHLVFLVIYGTNGTFNQTLVTDNNGLAPFTLETSGWNGTDVSLEGKFQ
MEDLVYNPEQVPRYYQNAYLHLRPFYSTTRSFLGIHRLNGPLKCGQPQEVLVDYYIDPAD
ASPDQEISFSYYLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIF
PSGGVVADKIQFSVEMCFDNQVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLL
LRPDRELSNRSVYGMFPFWYGHYPYQVAEYDQCPVSGPWDFPQPLIDPMPQGHSSQRSII
WRPSFSEGTDLFSFFRDVGLKILSNAKIKKPVDCSHRSPEYSTAMGAGGGHPEAFESSTP
LHQAEDSQVRQYFPETWLWDLFPIGNSGKEAVHVTVPDAITEWKAMSFCTSQSRGFGLSP
TVGLTAFKPFFVDLTLPYSVVRGESFRLTATIFNYLKDCIRVQTDLAKSHEYQLESWADS
QTSSCLCADDAKTHHWNITAVKLGHINFTISTKILDSNEPCGGQKGFVPQKGRSDTLIKP
VLVKPEGVLVEKTHSSLLCPKGKVASESVSLELPVDIVPDSTKAYVTVLGDIMGTALQNL
DGLVQMPSGCGEQNMVLFAPIIYVLQYLEKAGLLTEEIRSRAVGFLEIGYQKELMYKHSN
GSYSAFGERDGNGNTWLTAFVTKCFGQAQKFIFIDPKNIQDALKWMAGNQLPSGCYANVG
NLLHTAMKGGVDDEVSLTAYVTAALLEMGKDVDDPMVSQGLRCLKNSATSTTNLYTQALL
AYIFSLAGEMDIRNILLKQLDQQAIISGESIYWSQKPTPSSNASPWSEPAAVDVELTAYA
LLAQLTKPSLTQKEIAKATSIVAWLAKQHNAYGGFSSTQDTVVALQALAKYATTAYMPSE
EINLVVKSTENFQRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILP
PTNMKTFSLSVEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEG
TNQLLLQQPLVKKVEFGTDTLNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYL
PDEQATIQYSDPCE

Sequence length

1454

Interactions

View interactions

201

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Otitis media	Likely pathogenic	rs1409944554	RCV001261808
Otitis media, susceptibility to	Likely pathogenic	rs1409944554	RCV000768661

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
A2ML1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs550751327, rs768785455, rs1482427203, rs774472456, rs768728955, rs753841404, rs185046854, rs747225412, rs1943786459, rs199701571, rs79889829, rs374569843, rs200251270, rs1032646451, rs375784426 View all (67 more)	RCV003918852 RCV003963220 RCV003405583 RCV003963230 RCV003928891 RCV003920937 RCV003938831 RCV003956091 RCV003394116 RCV003935087 RCV003416583 RCV003984144 RCV004749805 RCV003416564 RCV003968593 RCV003893260 RCV003960984 RCV004749904 RCV003418479 RCV003903698 RCV003937655 RCV003907751 RCV003401084 RCV003917857 RCV003977690 RCV003939893 RCV003947798 RCV003939894 RCV003955373 RCV003930003 RCV003930004 RCV003955374 RCV003420590 RCV003947885 RCV003420639 RCV003410726 RCV003397666 RCV003419066 RCV003410607 RCV004750430 RCV003896771 RCV003897094 RCV003964657 RCV003894378 RCV003899357 RCV003909745 RCV003936982 RCV003952274 RCV003942382 RCV003960012 RCV003902667 RCV003972772 RCV003960057 RCV003925340 RCV003932729 RCV003925341 RCV003902666 RCV003902641 RCV003960058 RCV003932708 RCV003925423 RCV003892348 RCV003945465 RCV003917923 RCV003953019 RCV003420289 RCV003955505 RCV003392602 RCV003918358 RCV003938241 RCV003424406 RCV003955625 RCV003908264 RCV003965708 RCV003908209 RCV003895277 RCV003938340 RCV003975445 RCV003898191 RCV003918766 RCV003405441 RCV003918791 RCV004749638
Cervical cancer	Benign; Likely benign	rs11047493, rs73037002	RCV005899519 RCV005901582
Cholangiocarcinoma	Benign	rs117033574	RCV005919692
Clear cell carcinoma of kidney	Benign; Likely benign	rs61741216	RCV005895396
Gastric cancer	Benign	rs117033574	RCV005919691
Hepatocellular carcinoma	Benign	rs12296765	RCV005895393
Lung cancer	Benign; Likely benign	rs61741216	RCV005895398
Malignant lymphoma, large B-cell, diffuse	Benign	rs117033574	RCV005919690
Malignant tumor of esophagus	Benign	rs12296765	RCV005895394
Melanoma	Benign	rs79151946	RCV005899518
Nonsyndromic otitis media	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs863224952, rs192888493, rs863224953, rs863224954, rs863224951, rs199651558, rs760545562, rs201725377, rs863224955	RCV000201246 RCV000201258 RCV000201255 RCV000201241 RCV000201239 RCV000201249 RCV000201259 RCV000201240 RCV000201251
Noonan syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs1437069980, rs753841404, rs776595459, rs201562272, rs201950472, rs767510479	RCV005361527 RCV005361608 RCV005361842 RCV001251215 RCV000503586 RCV005361510
Noonan syndrome 1	Uncertain significance	rs1466413438	RCV000677142
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs7959289, rs200503836	RCV005919769 RCV005906999
Sarcoma	Benign	rs11047493	RCV005899520
Uterine carcinosarcoma	Benign; Likely benign	rs61741216, rs73037002	RCV005895397 RCV005901583
Uterine corpus endometrial carcinoma	Benign	rs12296765, rs11047493	RCV005895395 RCV005899521

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Borderline Personality Disorder	Associate	25612291
Carcinoma Non Small Cell Lung	Associate	39413460
Carcinoma Pancreatic Ductal	Associate	39413460
Carcinoma Squamous Cell	Associate	29749538, 39413460
Cardiofaciocutaneous syndrome	Associate	24896146
Cognition Disorders	Associate	29084334
Depressive Disorder Major	Associate	25612291
Glioblastoma	Associate	36766715
Glioma	Associate	36766715
Hearing Loss	Associate	36719978
Mouth Neoplasms	Associate	33402507
Noonan Syndrome	Associate	32514133, 33082526
Otitis Media	Associate	27799062, 31009165, 36719978
Pancreatic Neoplasms	Associate	32048534
Pediatric Obesity	Associate	25612291
Pemphigus	Associate	20805888

A2ML1 (alpha-2-macroglobulin like 1)