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	54443
Gene name	Anillin, actin binding protein
Gene symbol	ANLN
Synonyms (NCBI Gene)	FSGS8Scrapsscra
Chromosome	7
Chromosome location	7p14.2
Summary	This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are as

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777741	C>T	Pathogenic	Coding sequence variant, missense variant
rs1184529372	G>C,T	Pathogenic	Coding sequence variant, missense variant

234

Show/Hide all (234)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000660	hsa-miR-424-5p	Luciferase reporter assay	19956200
MIRT000651	hsa-miR-503-5p	Luciferase reporter assay	19956200
MIRT024925	hsa-miR-215-5p	Microarray	19074876
MIRT026616	hsa-miR-192-5p	Microarray	19074876
MIRT785505	hsa-miR-1264	CLIP-seq
MIRT785506	hsa-miR-1271	CLIP-seq
MIRT785507	hsa-miR-1277	CLIP-seq
MIRT785508	hsa-miR-132	CLIP-seq
MIRT785509	hsa-miR-15a	CLIP-seq
MIRT785510	hsa-miR-15b	CLIP-seq
MIRT785511	hsa-miR-16	CLIP-seq
MIRT785512	hsa-miR-182	CLIP-seq
MIRT785513	hsa-miR-186	CLIP-seq
MIRT785514	hsa-miR-195	CLIP-seq
MIRT785515	hsa-miR-200b	CLIP-seq
MIRT785516	hsa-miR-200c	CLIP-seq
MIRT785517	hsa-miR-212	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785519	hsa-miR-218	CLIP-seq
MIRT785520	hsa-miR-2467-5p	CLIP-seq
MIRT785521	hsa-miR-3065-5p	CLIP-seq
MIRT785522	hsa-miR-30a	CLIP-seq
MIRT785523	hsa-miR-30b	CLIP-seq
MIRT785524	hsa-miR-30c	CLIP-seq
MIRT785525	hsa-miR-30d	CLIP-seq
MIRT785526	hsa-miR-30e	CLIP-seq
MIRT785527	hsa-miR-31	CLIP-seq
MIRT785528	hsa-miR-3119	CLIP-seq
MIRT785529	hsa-miR-3129-3p	CLIP-seq
MIRT785530	hsa-miR-3133	CLIP-seq
MIRT785531	hsa-miR-3146	CLIP-seq
MIRT785532	hsa-miR-3152-5p	CLIP-seq
MIRT785533	hsa-miR-3163	CLIP-seq
MIRT785534	hsa-miR-3164	CLIP-seq
MIRT785535	hsa-miR-3188	CLIP-seq
MIRT785536	hsa-miR-338-5p	CLIP-seq
MIRT785537	hsa-miR-340	CLIP-seq
MIRT785538	hsa-miR-342-3p	CLIP-seq
MIRT785539	hsa-miR-3591-5p	CLIP-seq
MIRT785540	hsa-miR-3606	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785542	hsa-miR-3646	CLIP-seq
MIRT785543	hsa-miR-3647-3p	CLIP-seq
MIRT785544	hsa-miR-3662	CLIP-seq
MIRT785545	hsa-miR-3670	CLIP-seq
MIRT785546	hsa-miR-3672	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785548	hsa-miR-3689d	CLIP-seq
MIRT785549	hsa-miR-3691-3p	CLIP-seq
MIRT785550	hsa-miR-369-3p	CLIP-seq
MIRT785551	hsa-miR-374a	CLIP-seq
MIRT785552	hsa-miR-374b	CLIP-seq
MIRT785553	hsa-miR-376c	CLIP-seq
MIRT785554	hsa-miR-377	CLIP-seq
MIRT785555	hsa-miR-3973	CLIP-seq
MIRT785556	hsa-miR-3975	CLIP-seq
MIRT785557	hsa-miR-424	CLIP-seq
MIRT785558	hsa-miR-4255	CLIP-seq
MIRT785559	hsa-miR-429	CLIP-seq
MIRT785560	hsa-miR-4317	CLIP-seq
MIRT785561	hsa-miR-4418	CLIP-seq
MIRT785562	hsa-miR-4427	CLIP-seq
MIRT785563	hsa-miR-4459	CLIP-seq
MIRT785564	hsa-miR-4477a	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT785566	hsa-miR-4484	CLIP-seq
MIRT785567	hsa-miR-4495	CLIP-seq
MIRT785568	hsa-miR-4496	CLIP-seq
MIRT785569	hsa-miR-4511	CLIP-seq
MIRT785570	hsa-miR-4517	CLIP-seq
MIRT785571	hsa-miR-4524	CLIP-seq
MIRT785572	hsa-miR-4639-5p	CLIP-seq
MIRT785573	hsa-miR-4677-3p	CLIP-seq
MIRT785574	hsa-miR-4678	CLIP-seq
MIRT785575	hsa-miR-4679	CLIP-seq
MIRT785576	hsa-miR-4725-5p	CLIP-seq
MIRT785577	hsa-miR-4760-5p	CLIP-seq
MIRT785578	hsa-miR-4762-3p	CLIP-seq
MIRT785579	hsa-miR-4764-3p	CLIP-seq
MIRT785580	hsa-miR-4766-3p	CLIP-seq
MIRT785581	hsa-miR-4775	CLIP-seq
MIRT785582	hsa-miR-4778-5p	CLIP-seq
MIRT785583	hsa-miR-4786-3p	CLIP-seq
MIRT785584	hsa-miR-4786-5p	CLIP-seq
MIRT785585	hsa-miR-4795-3p	CLIP-seq
MIRT785586	hsa-miR-485-5p	CLIP-seq
MIRT785587	hsa-miR-497	CLIP-seq
MIRT785588	hsa-miR-499-3p	CLIP-seq
MIRT785589	hsa-miR-499a-3p	CLIP-seq
MIRT785590	hsa-miR-503	CLIP-seq
MIRT785591	hsa-miR-504	CLIP-seq
MIRT785592	hsa-miR-509-3-5p	CLIP-seq
MIRT785593	hsa-miR-5095	CLIP-seq
MIRT785594	hsa-miR-509-5p	CLIP-seq
MIRT785595	hsa-miR-542-3p	CLIP-seq
MIRT785596	hsa-miR-545	CLIP-seq
MIRT785597	hsa-miR-548ae	CLIP-seq
MIRT785598	hsa-miR-548aj	CLIP-seq
MIRT785599	hsa-miR-548am	CLIP-seq
MIRT785600	hsa-miR-548l	CLIP-seq
MIRT785601	hsa-miR-548m	CLIP-seq
MIRT785602	hsa-miR-548n	CLIP-seq
MIRT785603	hsa-miR-548p	CLIP-seq
MIRT785604	hsa-miR-548t	CLIP-seq
MIRT785605	hsa-miR-548x	CLIP-seq
MIRT785606	hsa-miR-550b	CLIP-seq
MIRT785607	hsa-miR-552	CLIP-seq
MIRT785608	hsa-miR-561	CLIP-seq
MIRT785609	hsa-miR-590-3p	CLIP-seq
MIRT785610	hsa-miR-618	CLIP-seq
MIRT785611	hsa-miR-628-3p	CLIP-seq
MIRT785612	hsa-miR-636	CLIP-seq
MIRT785613	hsa-miR-646	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785615	hsa-miR-769-5p	CLIP-seq
MIRT785616	hsa-miR-802	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT785618	hsa-miR-96	CLIP-seq
MIRT785506	hsa-miR-1271	CLIP-seq
MIRT785512	hsa-miR-182	CLIP-seq
MIRT785521	hsa-miR-3065-5p	CLIP-seq
MIRT785527	hsa-miR-31	CLIP-seq
MIRT785618	hsa-miR-96	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT1931761	hsa-miR-595	CLIP-seq
MIRT785611	hsa-miR-628-3p	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785616	hsa-miR-802	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT2172140	hsa-miR-1253	CLIP-seq
MIRT785505	hsa-miR-1264	CLIP-seq
MIRT785507	hsa-miR-1277	CLIP-seq
MIRT785515	hsa-miR-200b	CLIP-seq
MIRT785516	hsa-miR-200c	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785519	hsa-miR-218	CLIP-seq
MIRT785522	hsa-miR-30a	CLIP-seq
MIRT785523	hsa-miR-30b	CLIP-seq
MIRT785524	hsa-miR-30c	CLIP-seq
MIRT785525	hsa-miR-30d	CLIP-seq
MIRT785526	hsa-miR-30e	CLIP-seq
MIRT785531	hsa-miR-3146	CLIP-seq
MIRT785532	hsa-miR-3152-5p	CLIP-seq
MIRT785533	hsa-miR-3163	CLIP-seq
MIRT2172141	hsa-miR-3185	CLIP-seq
MIRT785537	hsa-miR-340	CLIP-seq
MIRT785540	hsa-miR-3606	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785542	hsa-miR-3646	CLIP-seq
MIRT785543	hsa-miR-3647-3p	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785550	hsa-miR-369-3p	CLIP-seq
MIRT2172142	hsa-miR-3919	CLIP-seq
MIRT785555	hsa-miR-3973	CLIP-seq
MIRT785559	hsa-miR-429	CLIP-seq
MIRT2172143	hsa-miR-4305	CLIP-seq
MIRT785560	hsa-miR-4317	CLIP-seq
MIRT785561	hsa-miR-4418	CLIP-seq
MIRT2172144	hsa-miR-4422	CLIP-seq
MIRT2172145	hsa-miR-4436b-5p	CLIP-seq
MIRT785564	hsa-miR-4477a	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT785567	hsa-miR-4495	CLIP-seq
MIRT2172146	hsa-miR-4503	CLIP-seq
MIRT2172147	hsa-miR-4506	CLIP-seq
MIRT785570	hsa-miR-4517	CLIP-seq
MIRT785572	hsa-miR-4639-5p	CLIP-seq
MIRT785573	hsa-miR-4677-3p	CLIP-seq
MIRT785575	hsa-miR-4679	CLIP-seq
MIRT2172148	hsa-miR-4698	CLIP-seq
MIRT2172149	hsa-miR-4756-3p	CLIP-seq
MIRT2172150	hsa-miR-4760-3p	CLIP-seq
MIRT785578	hsa-miR-4762-3p	CLIP-seq
MIRT785579	hsa-miR-4764-3p	CLIP-seq
MIRT2172151	hsa-miR-4777-5p	CLIP-seq
MIRT785582	hsa-miR-4778-5p	CLIP-seq
MIRT785588	hsa-miR-499-3p	CLIP-seq
MIRT785589	hsa-miR-499a-3p	CLIP-seq
MIRT785592	hsa-miR-509-3-5p	CLIP-seq
MIRT785594	hsa-miR-509-5p	CLIP-seq
MIRT2172152	hsa-miR-518d-5p	CLIP-seq
MIRT2172153	hsa-miR-519b-5p	CLIP-seq
MIRT2172154	hsa-miR-519c-5p	CLIP-seq
MIRT2172155	hsa-miR-520c-5p	CLIP-seq
MIRT2172156	hsa-miR-520g	CLIP-seq
MIRT2172157	hsa-miR-520h	CLIP-seq
MIRT2172158	hsa-miR-526a	CLIP-seq
MIRT785608	hsa-miR-561	CLIP-seq
MIRT2172159	hsa-miR-607	CLIP-seq
MIRT785610	hsa-miR-618	CLIP-seq
MIRT785611	hsa-miR-628-3p	CLIP-seq
MIRT2172160	hsa-miR-629	CLIP-seq
MIRT785612	hsa-miR-636	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785616	hsa-miR-802	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT785505	hsa-miR-1264	CLIP-seq
MIRT785506	hsa-miR-1271	CLIP-seq
MIRT785508	hsa-miR-132	CLIP-seq
MIRT785509	hsa-miR-15a	CLIP-seq
MIRT785510	hsa-miR-15b	CLIP-seq
MIRT785511	hsa-miR-16	CLIP-seq
MIRT785512	hsa-miR-182	CLIP-seq
MIRT785514	hsa-miR-195	CLIP-seq
MIRT785517	hsa-miR-212	CLIP-seq
MIRT785518	hsa-miR-217	CLIP-seq
MIRT785521	hsa-miR-3065-5p	CLIP-seq
MIRT785527	hsa-miR-31	CLIP-seq
MIRT785533	hsa-miR-3163	CLIP-seq
MIRT785534	hsa-miR-3164	CLIP-seq
MIRT785541	hsa-miR-3607-3p	CLIP-seq
MIRT785545	hsa-miR-3670	CLIP-seq
MIRT785547	hsa-miR-3686	CLIP-seq
MIRT785553	hsa-miR-376c	CLIP-seq
MIRT785557	hsa-miR-424	CLIP-seq
MIRT785565	hsa-miR-448	CLIP-seq
MIRT785566	hsa-miR-4484	CLIP-seq
MIRT785571	hsa-miR-4524	CLIP-seq
MIRT785572	hsa-miR-4639-5p	CLIP-seq
MIRT785587	hsa-miR-497	CLIP-seq
MIRT785590	hsa-miR-503	CLIP-seq
MIRT785601	hsa-miR-548m	CLIP-seq
MIRT785613	hsa-miR-646	CLIP-seq
MIRT785614	hsa-miR-767-5p	CLIP-seq
MIRT785618	hsa-miR-96	CLIP-seq
MIRT785580	hsa-miR-4766-3p	CLIP-seq
MIRT785603	hsa-miR-548p	CLIP-seq
MIRT785608	hsa-miR-561	CLIP-seq
MIRT785617	hsa-miR-935	CLIP-seq
MIRT785580	hsa-miR-4766-3p	CLIP-seq
MIRT785603	hsa-miR-548p	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IBA
GO:0000281	Process	Mitotic cytokinesis	IDA	10931866
GO:0000915	Process	Actomyosin contractile ring assembly	IBA
GO:0000921	Process	Septin ring assembly	TAS	10931866
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003779	Function	Actin binding	IDA	10931866
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	10931866
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005826	Component	Actomyosin contractile ring	IBA
GO:0005826	Component	Actomyosin contractile ring	IDA	10931866
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005938	Component	Cell cortex	IDA	23870127
GO:0005938	Component	Cell cortex	IEA
GO:0007096	Process	Regulation of exit from mitosis	TAS	10931866
GO:0015629	Component	Actin cytoskeleton	IDA	10931866
GO:0030496	Component	Midbody	IDA
GO:0031106	Process	Septin ring organization	IBA
GO:0032059	Component	Bleb	IDA	23870127
GO:0032059	Component	Bleb	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051301	Process	Cell division	IEA
GO:0090521	Process	Podocyte cell migration	IMP	24676636
GO:1904172	Process	Positive regulation of bleb assembly	IMP	23870127

MIM	HGNC	e!Ensembl
616027	14082	ENSG00000011426

Q9NQW6

Protein name

Anillin

Protein function

Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127).

PDB

2Y7B , 4XH3 , 4XOI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16018	Anillin_N	142 → 229	Anillin N-terminus	Family
PF16018	Anillin_N	428 → 506	Anillin N-terminus	Family
PF08174	Anillin	800 → 953	Cell division protein anillin	Domain
PF00169	PH	984 → 1107	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Present at highest levels in the brain, at high levels in the placenta and testis, at intermediate levels in the intestine, ovary, skeletal muscle and thymus and at lower levels in heart, kidney, liver, lung, pa

Sequence

MDPFTEKLLERTRARRENLQRKMAERPTAAPRSMTHAKRARQPLSEASNQQPLSGGEEKS
CTKPSPSKKRCSDNTEVEVSNLENKQPVESTSAKSCSPSPVSPQVQPQAADTISDSVAVP
ASLLGMRRGLNSRLEATAASSVKTRMQKLAEQRRRWDNDDMTDDIPESSLFSPMPSEEKA
ASPPRPLLSNASATPVGRRGRLANLAATICSWEDDVNHSFAKQNSVQEQPGTACLSKFSS
ASGASARINSSSVKQEATFCSQRDGDASLNKALSSSADDASLVNASISSSVKATSPVKST
TSITDAKSCEGQNPELLPKTPISPLKTGVSKPIVKSTLSQTVPSKGELSREICLQSQSKD
KSTTPGGTGIKPFLERFGERCQEHSKESPARSTPHRTPIITPNTKAIQERLFKQDTSSST
THLAQQLKQERQKELACLRGRFDKGNIWSAEKGGNSKSKQLETKQETHCQSTPLKKHQGV
SKTQSLPVTEKVTENQIPAKNSSTEPKGFTECEMTKSSPLKITLFLEEDKSLKVTSDPKV
EQKIEVIREIEMSVDDDDINSSKVINDLFSDVLEEGELDMEKSQEEMDQALAESSEEQED
ALNISSMSLLAPLAQTVGVVSPESLVSTPRLELKDTSRSDESPKPGKFQRTRVPRAESGD
SLGSEDRDLLYSIDAYRSQRFKETERPSIKQVIVRKEDVTSKLDEKNNAFPCQVNIKQKM
QELNNEINMQQTVIYQASQALNCCVDEEHGKGSLEEAEAERLLLIATGKRTLLIDELNKL
KNEGPQRKNKASPQSEFMPSKGSVTLSEIRLPLKADFVCSTVQKPDAANYYYLIILKAGA
ENMVATPLASTSNSLNGDALTFTTTFTLQDVSNDFEINIEVYSLVQKKDPSGLDKKKKTS
KSKAITPKRLLTSITTKSNIHSSVMASPGGLSAVRTSNFALVGSYTLSLSSVGNTKFVLD
KVPFLSSLEGHIYLKIKCQVNSSVEERGFLTIFEDVSGFGAWHRRWCVLSGNCISYWTYP
DDEKRKNPIGRINLANCTSRQIEPANREFCARRNTFELITVRPQREDDRETLVSQCRDTL
CVTKNWLSADTKEERDLWMQKLNQVLVDIRLWQPDACYKPIGKP

Sequence length

1124

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Focal segmental glomerulosclerosis 8	Likely pathogenic; Pathogenic	rs587777741, rs1184529372	RCV000144242 RCV000576906	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (37)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANLN-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APPENDICITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL HYALINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL SCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL GLOMERULONEPHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, FOCAL AND SEGMENTAL GLOMERULAR LESIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30008873, 31268619, 31637715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	35003319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Branchiootic syndrome	Branchiootic Syndrome	BEFREE	30548429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25223638, 27863473, 28243684, 30551077, 31578580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21679412, 23547718, 27863473, 31578580, 34743685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	30548429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34082790, 34344861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	31914060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23717429, 31822116, 32275843, 33157984, 34130591, 36923927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16357138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	40362181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35373928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27062703	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35650387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	34082790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36526897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	34301297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	28222102		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8	Focal segmental glomerulosclerosis	UNIPROT_DG	24676636		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	24676636, 30002222		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8	Focal segmental glomerulosclerosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Hepatoblastoma	BEFREE	29274368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37481543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24676636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29274368, 30103211, 31392101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29274368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25223638, 27863473, 28243684, 30551077, 31578580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16357138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31395079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24809965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19995712, 28600503, 28881803, 30008873, 30551077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27863473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	34082790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35689754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26486082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17982635, 27863473, 29274368, 29670400, 30103211, 31395079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	24676636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19995712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16357138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19995712, 31395079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28881803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19995712, 26214778, 34394706, 37604837, 37741887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	19995712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28222102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20385374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34344861, 34917682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24809965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32902196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27796151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	28600503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32258155, 34530829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ANLN (anillin, actin binding protein)