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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3207
Gene name	Homeobox A11
Gene symbol	HOXA11
Synonyms (NCBI Gene)	HOX1HOX1IRUSAT1
Chromosome	7
Chromosome location	7p15.2
Summary	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic develo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs864321666	T>-	Pathogenic	Coding sequence variant, frameshift variant

232

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017072	hsa-miR-335-5p	Microarray	18185580
MIRT047784	hsa-miR-30d-5p	CLASH	23622248
MIRT041937	hsa-miR-484	CLASH	23622248
MIRT039124	hsa-miR-769-3p	CLASH	23622248
MIRT523147	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT523146	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT523145	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT523144	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT523143	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT523142	hsa-miR-5584-5p	HITS-CLIP	21572407
MIRT523141	hsa-miR-5692b	HITS-CLIP	21572407
MIRT523140	hsa-miR-5692c	HITS-CLIP	21572407
MIRT320501	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT258341	hsa-miR-211-3p	HITS-CLIP	21572407
MIRT258346	hsa-miR-4270	HITS-CLIP	21572407
MIRT258348	hsa-miR-4441	HITS-CLIP	21572407
MIRT258352	hsa-miR-6754-5p	HITS-CLIP	21572407
MIRT320498	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT557175	hsa-miR-3127-5p	HITS-CLIP	21572407
MIRT523147	hsa-miR-374a-5p	PAR-CLIP	20371350
MIRT523146	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT523145	hsa-miR-374b-5p	PAR-CLIP	20371350
MIRT523144	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT523143	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT523142	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT523141	hsa-miR-5692b	PAR-CLIP	20371350
MIRT523140	hsa-miR-5692c	PAR-CLIP	20371350
MIRT320501	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT258341	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT258346	hsa-miR-4270	PAR-CLIP	20371350
MIRT258348	hsa-miR-4441	PAR-CLIP	20371350
MIRT258352	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT320498	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT557175	hsa-miR-3127-5p	PAR-CLIP	20371350
MIRT523147	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT523146	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT523145	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT523144	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT523143	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT523142	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT523141	hsa-miR-5692b	PAR-CLIP	21572407
MIRT523140	hsa-miR-5692c	PAR-CLIP	21572407
MIRT320501	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT258341	hsa-miR-211-3p	PAR-CLIP	21572407
MIRT258346	hsa-miR-4270	PAR-CLIP	21572407
MIRT258348	hsa-miR-4441	PAR-CLIP	21572407
MIRT258352	hsa-miR-6754-5p	PAR-CLIP	21572407
MIRT557176	hsa-miR-205-5p	PAR-CLIP	21572407
MIRT320498	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT557175	hsa-miR-3127-5p	PAR-CLIP	21572407
MIRT557174	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT523147	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT523146	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT523145	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT523144	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT523143	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT523142	hsa-miR-5584-5p	PAR-CLIP	23446348
MIRT523141	hsa-miR-5692b	PAR-CLIP	23446348
MIRT523140	hsa-miR-5692c	PAR-CLIP	23446348
MIRT320501	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT258341	hsa-miR-211-3p	PAR-CLIP	23446348
MIRT258346	hsa-miR-4270	PAR-CLIP	23446348
MIRT258348	hsa-miR-4441	PAR-CLIP	23446348
MIRT258352	hsa-miR-6754-5p	PAR-CLIP	23446348
MIRT320498	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523147	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT523146	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT523145	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT523144	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT523143	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT523142	hsa-miR-5584-5p	HITS-CLIP	21572407
MIRT523141	hsa-miR-5692b	HITS-CLIP	21572407
MIRT523140	hsa-miR-5692c	HITS-CLIP	21572407
MIRT320501	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT258341	hsa-miR-211-3p	HITS-CLIP	21572407
MIRT258346	hsa-miR-4270	HITS-CLIP	21572407
MIRT258348	hsa-miR-4441	HITS-CLIP	21572407
MIRT258352	hsa-miR-6754-5p	HITS-CLIP	21572407
MIRT320498	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT557175	hsa-miR-3127-5p	HITS-CLIP	21572407
MIRT523147	hsa-miR-374a-5p	PAR-CLIP	20371350
MIRT523146	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT523145	hsa-miR-374b-5p	PAR-CLIP	20371350
MIRT523144	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT523143	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT523142	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT523141	hsa-miR-5692b	PAR-CLIP	20371350
MIRT523140	hsa-miR-5692c	PAR-CLIP	20371350
MIRT320501	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT258341	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT258346	hsa-miR-4270	PAR-CLIP	20371350
MIRT258348	hsa-miR-4441	PAR-CLIP	20371350
MIRT258352	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT320498	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT557175	hsa-miR-3127-5p	PAR-CLIP	20371350
MIRT523147	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT523146	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT523145	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT523144	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT523143	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT523142	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT523141	hsa-miR-5692b	PAR-CLIP	21572407
MIRT523140	hsa-miR-5692c	PAR-CLIP	21572407
MIRT320501	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT258341	hsa-miR-211-3p	PAR-CLIP	21572407
MIRT258346	hsa-miR-4270	PAR-CLIP	21572407
MIRT258348	hsa-miR-4441	PAR-CLIP	21572407
MIRT258352	hsa-miR-6754-5p	PAR-CLIP	21572407
MIRT557176	hsa-miR-205-5p	PAR-CLIP	21572407
MIRT320498	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT557175	hsa-miR-3127-5p	PAR-CLIP	21572407
MIRT557174	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT523147	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT523146	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT523145	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT523144	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT523143	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT523142	hsa-miR-5584-5p	PAR-CLIP	23446348
MIRT523141	hsa-miR-5692b	PAR-CLIP	23446348
MIRT523140	hsa-miR-5692c	PAR-CLIP	23446348
MIRT320501	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT258341	hsa-miR-211-3p	PAR-CLIP	23446348
MIRT258346	hsa-miR-4270	PAR-CLIP	23446348
MIRT258348	hsa-miR-4441	PAR-CLIP	23446348
MIRT258352	hsa-miR-6754-5p	PAR-CLIP	23446348
MIRT320498	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT1053101	hsa-miR-1207-5p	CLIP-seq
MIRT1053102	hsa-miR-1293	CLIP-seq
MIRT1053103	hsa-miR-2861	CLIP-seq
MIRT1053104	hsa-miR-3652	CLIP-seq
MIRT1053105	hsa-miR-4266	CLIP-seq
MIRT1053106	hsa-miR-4302	CLIP-seq
MIRT1053107	hsa-miR-4430	CLIP-seq
MIRT1053108	hsa-miR-4481	CLIP-seq
MIRT1053109	hsa-miR-4483	CLIP-seq
MIRT1053110	hsa-miR-4695-5p	CLIP-seq
MIRT1053111	hsa-miR-4736	CLIP-seq
MIRT1053112	hsa-miR-4745-5p	CLIP-seq
MIRT1053113	hsa-miR-4758-5p	CLIP-seq
MIRT1053114	hsa-miR-4763-3p	CLIP-seq
MIRT1053115	hsa-miR-4779	CLIP-seq
MIRT1053116	hsa-miR-541	CLIP-seq
MIRT1053117	hsa-miR-654-5p	CLIP-seq
MIRT1053118	hsa-miR-765	CLIP-seq
MIRT2012077	hsa-miR-1184	CLIP-seq
MIRT2012078	hsa-miR-1205	CLIP-seq
MIRT2012079	hsa-miR-1587	CLIP-seq
MIRT2012080	hsa-miR-3158-5p	CLIP-seq
MIRT2012081	hsa-miR-3194-3p	CLIP-seq
MIRT2012082	hsa-miR-339-5p	CLIP-seq
MIRT2012083	hsa-miR-4417	CLIP-seq
MIRT2012084	hsa-miR-4492	CLIP-seq
MIRT2012085	hsa-miR-4498	CLIP-seq
MIRT2012086	hsa-miR-4656	CLIP-seq
MIRT2012087	hsa-miR-4675	CLIP-seq
MIRT2012088	hsa-miR-4741	CLIP-seq
MIRT1053116	hsa-miR-541	CLIP-seq
MIRT1053117	hsa-miR-654-5p	CLIP-seq
MIRT2012089	hsa-miR-762	CLIP-seq
MIRT2244342	hsa-miR-1226	CLIP-seq
MIRT2244343	hsa-miR-1266	CLIP-seq
MIRT2244344	hsa-miR-3202	CLIP-seq
MIRT2244345	hsa-miR-3974	CLIP-seq
MIRT2244346	hsa-miR-432	CLIP-seq
MIRT2244347	hsa-miR-4518	CLIP-seq
MIRT2244348	hsa-miR-4533	CLIP-seq
MIRT2244349	hsa-miR-4733-3p	CLIP-seq
MIRT2244350	hsa-miR-493	CLIP-seq
MIRT2389118	hsa-miR-23a	CLIP-seq
MIRT2389119	hsa-miR-23b	CLIP-seq
MIRT2389120	hsa-miR-23c	CLIP-seq
MIRT2389121	hsa-miR-3119	CLIP-seq
MIRT2012077	hsa-miR-1184	CLIP-seq
MIRT2547233	hsa-miR-1224-3p	CLIP-seq
MIRT2547234	hsa-miR-1260	CLIP-seq
MIRT2547235	hsa-miR-1260b	CLIP-seq
MIRT2244343	hsa-miR-1266	CLIP-seq
MIRT2547236	hsa-miR-1280	CLIP-seq
MIRT2547237	hsa-miR-132	CLIP-seq
MIRT2547238	hsa-miR-150	CLIP-seq
MIRT2547239	hsa-miR-212	CLIP-seq
MIRT2547240	hsa-miR-2467-3p	CLIP-seq
MIRT2547241	hsa-miR-3064-3p	CLIP-seq
MIRT2547242	hsa-miR-3064-5p	CLIP-seq
MIRT2547243	hsa-miR-3074-5p	CLIP-seq
MIRT2389121	hsa-miR-3119	CLIP-seq
MIRT2012080	hsa-miR-3158-5p	CLIP-seq
MIRT2547244	hsa-miR-3664-3p	CLIP-seq
MIRT2547245	hsa-miR-3677-5p	CLIP-seq
MIRT2547246	hsa-miR-3678-3p	CLIP-seq
MIRT2547247	hsa-miR-3692	CLIP-seq
MIRT2244347	hsa-miR-4518	CLIP-seq
MIRT2547248	hsa-miR-455-3p	CLIP-seq
MIRT2547249	hsa-miR-4640-5p	CLIP-seq
MIRT2547250	hsa-miR-4695-3p	CLIP-seq
MIRT2547251	hsa-miR-4713-5p	CLIP-seq
MIRT2547252	hsa-miR-4726-5p	CLIP-seq
MIRT2547253	hsa-miR-4756-3p	CLIP-seq
MIRT2547254	hsa-miR-532-3p	CLIP-seq
MIRT2547255	hsa-miR-604	CLIP-seq
MIRT2547256	hsa-miR-647	CLIP-seq
MIRT2012077	hsa-miR-1184	CLIP-seq
MIRT2547233	hsa-miR-1224-3p	CLIP-seq
MIRT2547234	hsa-miR-1260	CLIP-seq
MIRT2547235	hsa-miR-1260b	CLIP-seq
MIRT2244343	hsa-miR-1266	CLIP-seq
MIRT2547236	hsa-miR-1280	CLIP-seq
MIRT2547237	hsa-miR-132	CLIP-seq
MIRT2547238	hsa-miR-150	CLIP-seq
MIRT2547239	hsa-miR-212	CLIP-seq
MIRT2547240	hsa-miR-2467-3p	CLIP-seq
MIRT2547241	hsa-miR-3064-3p	CLIP-seq
MIRT2547242	hsa-miR-3064-5p	CLIP-seq
MIRT2547243	hsa-miR-3074-5p	CLIP-seq
MIRT2389121	hsa-miR-3119	CLIP-seq
MIRT2012080	hsa-miR-3158-5p	CLIP-seq
MIRT2682420	hsa-miR-3188	CLIP-seq
MIRT2547244	hsa-miR-3664-3p	CLIP-seq
MIRT2682421	hsa-miR-3664-5p	CLIP-seq
MIRT2547245	hsa-miR-3677-5p	CLIP-seq
MIRT2547246	hsa-miR-3678-3p	CLIP-seq
MIRT2547247	hsa-miR-3692	CLIP-seq
MIRT2244347	hsa-miR-4518	CLIP-seq
MIRT2547248	hsa-miR-455-3p	CLIP-seq
MIRT2547249	hsa-miR-4640-5p	CLIP-seq
MIRT2547250	hsa-miR-4695-3p	CLIP-seq
MIRT2547251	hsa-miR-4713-5p	CLIP-seq
MIRT2547252	hsa-miR-4726-5p	CLIP-seq
MIRT2547253	hsa-miR-4756-3p	CLIP-seq
MIRT2547254	hsa-miR-532-3p	CLIP-seq
MIRT2547255	hsa-miR-604	CLIP-seq
MIRT2547256	hsa-miR-647	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	ISS
GO:0001656	Process	Metanephros development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001759	Process	Organ induction	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002063	Process	Chondrocyte development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007501	Process	Mesodermal cell fate specification	IEA
GO:0007501	Process	Mesodermal cell fate specification	ISS
GO:0008584	Process	Male gonad development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9745033
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	ISS
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010720	Process	Positive regulation of cell development	ISS
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030850	Process	Prostate gland development	IEA
GO:0032330	Process	Regulation of chondrocyte differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0032993	Component	Protein-DNA complex	IEA
GO:0032993	Component	Protein-DNA complex	ISS
GO:0033574	Process	Response to testosterone	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0048468	Process	Cell development	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0048589	Process	Developmental growth	ISS
GO:0060065	Process	Uterus development	IEA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IBA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IEA
GO:0060348	Process	Bone development	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	ISS
GO:1902761	Process	Positive regulation of chondrocyte development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
142958	5101	ENSG00000005073

P31270

Protein name

Homeobox protein Hox-A11 (Homeobox protein Hox-1I)

Protein function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12045	DUF3528	25 → 167	Protein of unknown function (DUF3528)	Family
PF00046	Homeodomain	242 → 298	Homeodomain	Domain

Sequence

MDFDERGPCSSNMYLPSCTYYVSGPDFSSLPSFLPQTPSSRPMTYSYSSNLPQVQPVREV
TFREYAIEPATKWHPRGNLAHCYSAEELVHRDCLQAPSAAGVPGDVLAKSSANVYHHPTP
AVSSNFYSTVGRNGVLPQAFDQFFETAYGTPENLASSDYPGDKSAEKGPPAATATSAAAA
AAATGAPATSSSDSGGGGGCRETAAAAEEKERRRRPESSSSPESSSGHTEDKAGGSSGQR
TRKKRCPYTKYQIRELEREFFFSVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKIN
RDRLQYYSANPLL

Sequence length

313

Interactions

View interactions

	KEGG
	Transcriptional misregulation in cancer

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Inherited genitourinary tract anomalies	Likely pathogenic	rs2534803515	RCV003445398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesomelic dysplasia with urogenital abnormalities	Likely pathogenic	rs2534803364	RCV002640760	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	Pathogenic	rs864321666	RCV000016026	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
Abnormal bleeding	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE UROGENITAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOXA11-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
UROGENITAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (115)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	24259349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28380439, 30106131, 31144606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	BEFREE	16765069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	38632857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	BEFREE	21292093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28038461, 29415429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25287138, 28038461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	19255789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	27456940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	28038461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31757938, 32901858, 36204642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24259349, 31144606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39684631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28423531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32444962	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24259349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18478570		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26054679, 27792998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26054679, 27792998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	21876633	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17203192, 17254481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	BEFREE	16765069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28423531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	21292093, 28261830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	28038461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	12796396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	16804899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	16804899		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	20104430, 22233680, 23979130, 26552702, 29017417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	21987111, 22233680	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	23979130, 26056923, 34844098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female Urogenital Diseases	CTD_human_DG	16002989		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroid Tumor	Leiomyoma	BEFREE	27407137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23624749, 27456940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27456940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27456940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28653605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35349479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36351895	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	36984532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	28038461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21987111, 22233680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	19338047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	7596412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	11841413, 1348930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	38632857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11830496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23974201, 38632857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	19338047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19338047, 31670914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	7596412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	31757938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24259349, 28380439, 29796116, 34620221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28380439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29034803, 31987067	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31235999	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	39684631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19530241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28038461, 29415429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24259349, 31144606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18478570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25590359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11841413, 15674412, 18478570, 28038461, 29914539, 30099826, 30100744, 30106131, 31695791, 31757938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27792998		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15551325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30134227		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11830496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	11830496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11830496, 19338047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	11830496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12796396, 18478570, 22549947, 28038461, 28380439, 28423531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24259349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35163195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	37082886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18478570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20564122, 27737536, 35706412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36457244, 39684631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	20562651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	18274672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	25630974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	37989866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	15674412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15674412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15674412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33514011, 34337714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37955025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	ORPHANET_DG	11101832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	CTD_human_DG	24239177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	BEFREE	26581901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	GENOMICS_ENGLAND_DG	26581901		★★★★★ ★☆☆☆☆ Found in Text Mining only
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	GENOMICS_ENGLAND_DG	11101832		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28423531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	30106131	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24259349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30355951, 31987067, 34974809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25590359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31235999, 37989866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia-Absent Radius Syndrome	BEFREE	11841440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral Cryptorchidism	Cryptorchidism	BEFREE	28261830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34606634	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	21269620	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	36900953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	27407137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	15561107		★★★★★ ★☆☆☆☆ Found in Text Mining only

HOXA11 (homeobox A11)