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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	144568
Gene name Gene Name - the full gene name approved by the HGNC.	Alpha-2-macroglobulin like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	A2ML1
Synonyms (NCBI Gene) Gene synonyms aliases	CPAMD9, OMS, p170
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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(8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IBA	21873635
GO:0004866	Function	Endopeptidase inhibitor activity	IBA	21873635
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005615	Component	Extracellular space	IDA	16298998
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0030414	Function	Peptidase inhibitor activity	IDA	16298998
GO:0052548	Process	Regulation of endopeptidase activity	IDA	16298998
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
610627	23336	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
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

Show/Hide Causal Diseases (12)

Disease term	Disease name	dbSNP ID	References
Causal
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cardiofaciocutaneous syndrome	Cardio-facio-cutaneous syndrome	rs121434497, rs121434498, rs121434499, rs267607230, rs121913530, rs104894359, rs104894360, rs104894366, rs104894361, rs104894362, rs121908594, rs121908595, rs121908596, rs121913348, rs180177034 View all (61 more)
Costello syndrome	Costello syndrome (disorder)	rs104894230, rs104894229, rs104894226, rs104894227, rs104894228, rs104894231, rs121917756, rs121917757, rs121917758, rs121917759, rs398122808, rs398122809, rs727503093, rs730880460, rs587777239 View all (4 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Leopard syndrome	LEOPARD Syndrome	rs28933386, rs121918455, rs121918456, rs121918461, rs121918457, rs121918462, rs121918463, rs121918468, rs121918469, rs121918470, rs267606990, rs80338796, rs80338797, rs180177035, rs387906661 View all (19 more)
Noonan syndrome	Noonan Syndrome, Noonan syndrome	rs121434312, rs267607048, rs121434499, rs113954997, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs104894367, rs193929331, rs28933406, rs104894230, rs104894226, rs104894228 View all (240 more)	25862627, 24939586, 27942422
Noonan-like syndrome with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair, Noonan syndrome-like disorder with loose anagen hair	rs267607048, rs730881020, rs886037952, rs886037954, rs886037955, rs1114167429, rs1553311527
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Otitis media	Otitis Media, Recurrent otitis media	26121085	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Oligodendroglioma	Oligodendroglioma		GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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)