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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Otitis media	Likely pathogenic	rs1409944554	RCV001261808	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otitis media, susceptibility to	Likely pathogenic	rs1409944554	RCV000768661	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
A2ML1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic otitis media	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noonan syndrome 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	16522547, 8632662, 9204993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	2765667, 8097634, 9204993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	2765667, 8097634, 9204993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	1976871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	25612291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10211113, 12460791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39413460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29749538, 39413460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	24896146	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	2765667, 8097634, 9204993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29084334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	8123853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	25612291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	26900300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36766715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36766715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	36719978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10342576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	1347749, 8634450, 9164187, 9204993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10211113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1363234, 8242580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	7969046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	33402507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1356905		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	8100604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	1976871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1350506, 2006079, 2568864, 31644609, 8001903, 8097129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	24939586		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	24939586, 25862627		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noonan syndrome	Noonan Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noonan Syndrome	Noonan Syndrome	GENOMICS_ENGLAND_DG	25862627, 27942422		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noonan Syndrome	Noonan syndrome	Pubtator	32514133, 33082526	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	8669809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	CTD_human_DG	26121085		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32048534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	20805888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	2765667, 8097634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	25872416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1350506, 8099529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	2006079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	1331483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

A2ML1 (alpha-2-macroglobulin like 1)