HOXD10 (homeobox D10)

Gene

• Entrez ID: 3236
• Gene name: Homeobox D10
• Gene symbol: HOXD10
• Synonyms (NCBI Gene): HOX4, HOX4D, HOX4E, Hox-4.4
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcriptio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893634	T>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	17898713
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	17898713
MIRT002021	hsa-miR-10b-5p	Review	19935707
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay	17898713
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21419107
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21419107
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21419107
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay	23034333
MIRT002021	hsa-miR-10b-5p	Reporter assay	21642433
MIRT002021	hsa-miR-10b-5p	Reporter assay	17898713
MIRT042798	hsa-miR-339-5p	CLASH	23622248
MIRT002021	hsa-miR-10b-5p	Western blot	22766763
MIRT002021	hsa-miR-10b-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	22293682
MIRT054457	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	24219032
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24573354
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24573354
MIRT002021	hsa-miR-10b-5p	Immunohistochemistry	24897960
MIRT438248	hsa-miR-146a-5p	Immunohistochemistry, qRT-PCR, Western blot	25010866
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT438248	hsa-miR-146a-5p	Immunohistochemistry, qRT-PCR, Western blot	25010866
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT523138	hsa-miR-6083	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT523138	hsa-miR-6083	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523138	hsa-miR-6083	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523138	hsa-miR-6083	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT002021	hsa-miR-10b-5p	3'LIFE	25074381
MIRT002021	hsa-miR-10b-5p	3'LIFE	25074381
MIRT002021	hsa-miR-10b-5p	Immunohistochemistry, qRT-PCR, Western blot	26311318
MIRT732658	hsa-miR-525-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33258220
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT523138	hsa-miR-6083	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT523138	hsa-miR-6083	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523138	hsa-miR-6083	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523138	hsa-miR-6083	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT738581	hsa-miR-1193	CLIP-seq
MIRT738582	hsa-miR-1287	CLIP-seq
MIRT1053739	hsa-miR-1470	CLIP-seq
MIRT738580	hsa-miR-3134	CLIP-seq
MIRT738583	hsa-miR-3135b	CLIP-seq
MIRT1053740	hsa-miR-4469	CLIP-seq
MIRT1053741	hsa-miR-4667-3p	CLIP-seq
MIRT2012198	hsa-miR-140-3p	CLIP-seq
MIRT2012199	hsa-miR-501-3p	CLIP-seq
MIRT2012200	hsa-miR-502-3p	CLIP-seq
MIRT2012201	hsa-miR-767-5p	CLIP-seq
MIRT2012198	hsa-miR-140-3p	CLIP-seq
MIRT2012199	hsa-miR-501-3p	CLIP-seq
MIRT2012200	hsa-miR-502-3p	CLIP-seq
MIRT2012201	hsa-miR-767-5p	CLIP-seq
MIRT2547480	hsa-miR-4256	CLIP-seq
MIRT2547480	hsa-miR-4256	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007338	Process	Single fertilization	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0017053	Component	Transcription repressor complex	ISS
GO:0021520	Process	Spinal cord motor neuron cell fate specification	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0045786	Process	Negative regulation of cell cycle	NAS	22615398
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 142984
• HGNC: 5133
• e!Ensembl: ENSG00000128710

Protein

• UniProt ID: P28358
• Protein name: Homeobox protein Hox-D10 (Homeobox protein Hox-4D) (Homeobox protein Hox-4E)
• 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
  PF00046	Homeodomain	267 → 323	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in the adult male and female urogenital tracts.
• Sequence:

  MSFPNSSPAANTFLVDSLISACRSDSFYSSSASMYMPPPSADMGTYGMQTCGLLPSLAKR
  EVNHQNMGMNVHPYIPQVDSWTDPNRSCRIEQPVTQQVPTCSFTTNIKEESNCCMYSDKR
  NKLISAEVPSYQRLVPESCPVENPEVPVPGYFRLSQTYATGKTQEYNNSPEGSSTVMLQL
  NPRGAAKPQLSAAQLQMEKKMNEPVSGQEPTKVSQVESPEAKGGLPEERSCLAEVSVSSP
  EVQEKESKEEIKSDTPTSNWLTAKSGRKKRCPYTKHQTLELEKEFLFNMYLTRERRLEIS
  KSVNLTDRQVKIWFQNRRMKLKKMSRENRIRELTANLTFS

• Sequence length: 340

Pathways

KEGG:

Proteoglycans in cancer
MicroRNAs in cancer

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
Congenital vertical talus	Pathogenic	rs104893634	RCV000016006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL CONGENITAL VERTICAL TALUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL VERTICAL TALUS, BILATERAL	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL VERTICAL TALUS, UNILATERAL	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOXD10-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERTICAL TALUS, CONGENITAL	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24573354		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18922890, 24386080, 25081374, 26820121, 26985770, 28123472, 29733656		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18922890, 20843787, 24386080, 25081374	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	19664288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23980595, 26260613, 9773404	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23980595		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	25081374	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25236186, 34761603, 34911488	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24573354		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	19664288		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34825321	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23670532		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	15146389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CTD_human_DG	15146389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	16450407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	15146389		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CTD_human_DG	15146389		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	30468483		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26260613		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	26260613	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30552679, 30683109		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	23980595	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	30683109, 35593226	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23980595, 27729732, 28464221, 30552679		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30683109, 34292663	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	17417092		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26699387		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	9773404	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33667269	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	30850842	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23670532		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	39596630	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	28231752		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30603114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	40209540	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	30603114		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21419107		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24305689	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37812190, 38138552	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	BEFREE	19664288		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	25301728		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25301728	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	31105850		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CTD_human_DG	15146389		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CTD_human_DG	15146389		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	24376640		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	24376640	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25081374		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30468483	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30468483		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	19459884		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24219032, 25236186, 29075359		★☆☆☆☆ Found in Text Mining only
Lower Extremity Deformities, Congenital	Lower Extremity Deformities	CTD_human_DG	9409668		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26425700	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26311318	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	25301728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18922890, 24386080, 25081374, 26820121, 26985770, 28123472, 29733656		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	22227861		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28231752		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22160393, 22293682, 26311318, 28529617		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24573354		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16103068, 29075359		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30552679, 30683109		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20843787		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	34911488	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	22227861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	12466126, 16103068, 20843787, 22160393, 22227861, 25301728, 25606801, 26260613, 26311318, 28231752, 29075359, 29115628, 30938888		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	7967520		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29731873		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	25081374	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33667269, 36213580	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29115628		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28231752		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28005952	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	28231752		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	17568789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30186380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CTD_human_DG	15146389		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30938888		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22227861, 25010866, 25301728, 27658780	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	22227861		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25010866, 25301728		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22160393, 22293682, 26311318, 28529617		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24386080, 26311318	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	21654727		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	21654727	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28402266	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	GENOMICS_ENGLAND_DG	15146389		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	UNIPROT_DG	15146389		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	CTD_human_DG	15146389, 16450407, 24239177		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	15368082, 16450407, 17417092, 26729820		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only