A2ML1 (alpha-2-macroglobulin like 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 144568
• Gene name: Alpha-2-macroglobulin like 1
• Gene symbol: A2ML1
• Synonyms (NCBI Gene): CPAMD9, OMS, p170
• 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

SNPs 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

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 610627
• HGNC: 23336
• e!Ensembl: ENSG00000166535

Protein

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

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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)

Unknown / Other Associations Show/Hide Unknown Diseases (19)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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	35330412	★★☆☆☆ 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	24939586, 25862627, 27942422	★★★☆☆ 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	28604730	★★☆☆☆ 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

Associations from Text Mining Show/Hide Text Mining Associations (69)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RRAS 1 shared diseaseNoonan syndrome 2 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome) Related via 1 shared disease including Noonan syndrome — evidence mostly ClinGen. RASA2 1 shared diseaseNoonan syndrome 2 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome) Related via 1 shared disease including Noonan syndrome — evidence mostly ClinGen. RRAS2 1 shared diseaseNoonan syndrome 2 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome) Related via 1 shared disease including Noonan syndrome — evidence mostly ClinGen. PPP1CB 1 shared diseaseNoonan syndrome 2 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome) Related via 1 shared disease including Noonan syndrome — evidence mostly ClinGen. SOS2 1 shared diseaseNoonan syndrome 2 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome) Related via 1 shared disease including Noonan syndrome — evidence mostly ClinGen.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RRAS	1	["Noonan syndrome"]	0	[]	2	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)"]
RASA2	1	["Noonan syndrome"]	0	[]	2	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)"]
RRAS2	1	["Noonan syndrome"]	0	[]	2	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)"]
PPP1CB	1	["Noonan syndrome"]	0	[]	2	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)"]
SOS2	1	["Noonan syndrome"]	0	[]	2	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)"]

Diseases Linked via Similar Genes

Desbuquois syndrome Linked via 4 of 5 related genesRRAS, RRAS2, PPP1CB, SOS2 Hypertension Linked via 2 of 5 related genesRRAS, SOS2 Diabetes mellitus type 2 Linked via 2 of 5 related genesRASA2, SOS2 Myelomonocytic leukemia Linked via 1 of 5 related genesRRAS Prostatic neoplasms Linked via 1 of 5 related genesRRAS

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Desbuquois syndrome	4	["RRAS","RRAS2","PPP1CB","SOS2"]
Hypertension	2	["RRAS","SOS2"]
Diabetes mellitus type 2	2	["RASA2","SOS2"]
Myelomonocytic leukemia	1	["RRAS"]
Prostatic neoplasms	1	["RRAS"]