HOXA1 (homeobox A1)

Gene

• Entrez ID: 3198
• Gene name: Homeobox A1
• Gene symbol: HOXA1
• Synonyms (NCBI Gene): BSAS, HOX1, HOX1F
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001140	hsa-miR-10a-5p	Luciferase reporter assay, qRT-PCR, Western blot	16549775
MIRT000152	hsa-miR-210-3p	Luciferase reporter assay	19782034
MIRT001140	hsa-miR-10a-5p	Review	20029422
MIRT004641	hsa-miR-10b-5p	Review	20029422
MIRT001140	hsa-miR-10a-5p	Reporter assay;Other	16549775
MIRT001140	hsa-miR-10a-5p	qRT-PCR, Western blot	24498243
MIRT054544	hsa-miR-100-5p	Flow, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24559685
MIRT054544	hsa-miR-100-5p	Flow, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24559685
MIRT054544	hsa-miR-100-5p	ChIP-seq, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24586203
MIRT054544	hsa-miR-100-5p	ChIP-seq, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24586203
MIRT054708	hsa-miR-99a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24312487
MIRT529277	hsa-miR-8080	PAR-CLIP	22012620
MIRT529276	hsa-miR-6830-5p	PAR-CLIP	22012620
MIRT529275	hsa-miR-561-5p	PAR-CLIP	22012620
MIRT529274	hsa-miR-498	PAR-CLIP	22012620
MIRT443420	hsa-miR-455-5p	PAR-CLIP	22100165
MIRT443419	hsa-miR-8060	PAR-CLIP	22100165
MIRT443418	hsa-miR-6887-3p	PAR-CLIP	22100165
MIRT443417	hsa-miR-6795-3p	PAR-CLIP	22100165
MIRT443416	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT443415	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443413	hsa-miR-1227-3p	PAR-CLIP	22100165
MIRT443414	hsa-miR-7154-5p	PAR-CLIP	22100165
MIRT443412	hsa-miR-6826-3p	PAR-CLIP	22100165
MIRT054708	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28228659
MIRT054708	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28228659
MIRT054708	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28228659
MIRT054708	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26417931
MIRT054708	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26417931
MIRT054544	hsa-miR-100-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32364673
MIRT737404	hsa-miR-100-3p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	32021301
MIRT529277	hsa-miR-8080	PAR-CLIP	22012620
MIRT529276	hsa-miR-6830-5p	PAR-CLIP	22012620
MIRT529275	hsa-miR-561-5p	PAR-CLIP	22012620
MIRT529274	hsa-miR-498	PAR-CLIP	22012620
MIRT443420	hsa-miR-455-5p	PAR-CLIP	22100165
MIRT443419	hsa-miR-8060	PAR-CLIP	22100165
MIRT443418	hsa-miR-6887-3p	PAR-CLIP	22100165
MIRT443417	hsa-miR-6795-3p	PAR-CLIP	22100165
MIRT443416	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT443415	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443413	hsa-miR-1227-3p	PAR-CLIP	22100165
MIRT443414	hsa-miR-7154-5p	PAR-CLIP	22100165
MIRT443412	hsa-miR-6826-3p	PAR-CLIP	22100165
MIRT1053119	hsa-miR-100	CLIP-seq
MIRT1053120	hsa-miR-3119	CLIP-seq
MIRT1053121	hsa-miR-3140-3p	CLIP-seq
MIRT1053122	hsa-miR-3179	CLIP-seq
MIRT1053123	hsa-miR-3667-5p	CLIP-seq
MIRT1053124	hsa-miR-4652-3p	CLIP-seq
MIRT1053125	hsa-miR-556-3p	CLIP-seq
MIRT1053126	hsa-miR-99a	CLIP-seq
MIRT1053127	hsa-miR-99b	CLIP-seq
MIRT2012090	hsa-miR-4686	CLIP-seq
MIRT2012091	hsa-miR-513a-3p	CLIP-seq
MIRT2244351	hsa-miR-1257	CLIP-seq
MIRT2244352	hsa-miR-4279	CLIP-seq
MIRT2244353	hsa-miR-4452	CLIP-seq
MIRT2244354	hsa-miR-4459	CLIP-seq
MIRT2244355	hsa-miR-4677-3p	CLIP-seq
MIRT2244356	hsa-miR-4679	CLIP-seq
MIRT2244357	hsa-miR-4722-5p	CLIP-seq
MIRT2244358	hsa-miR-4779	CLIP-seq
MIRT2547257	hsa-miR-1225-5p	CLIP-seq
MIRT2547258	hsa-miR-1252	CLIP-seq
MIRT2547259	hsa-miR-1253	CLIP-seq
MIRT2547260	hsa-miR-1273d	CLIP-seq
MIRT2547261	hsa-miR-1538	CLIP-seq
MIRT2547262	hsa-miR-200b	CLIP-seq
MIRT2547263	hsa-miR-200c	CLIP-seq
MIRT2547264	hsa-miR-218	CLIP-seq
MIRT2547265	hsa-miR-2355-5p	CLIP-seq
MIRT2547266	hsa-miR-28-5p	CLIP-seq
MIRT2547267	hsa-miR-3132	CLIP-seq
MIRT2547268	hsa-miR-3139	CLIP-seq
MIRT2547269	hsa-miR-3159	CLIP-seq
MIRT2547270	hsa-miR-3190	CLIP-seq
MIRT2547271	hsa-miR-3202	CLIP-seq
MIRT2547272	hsa-miR-3607-3p	CLIP-seq
MIRT2547273	hsa-miR-3688-3p	CLIP-seq
MIRT2547274	hsa-miR-369-3p	CLIP-seq
MIRT2547275	hsa-miR-3936	CLIP-seq
MIRT2547276	hsa-miR-3978	CLIP-seq
MIRT2547277	hsa-miR-4267	CLIP-seq
MIRT2547278	hsa-miR-429	CLIP-seq
MIRT2547279	hsa-miR-4311	CLIP-seq
MIRT2547280	hsa-miR-4318	CLIP-seq
MIRT2547281	hsa-miR-4427	CLIP-seq
MIRT2547282	hsa-miR-4435	CLIP-seq
MIRT2547283	hsa-miR-4451	CLIP-seq
MIRT2547284	hsa-miR-4533	CLIP-seq
MIRT2547285	hsa-miR-4662a-3p	CLIP-seq
MIRT2547286	hsa-miR-4680-3p	CLIP-seq
MIRT2547287	hsa-miR-4694-3p	CLIP-seq
MIRT2547288	hsa-miR-4719	CLIP-seq
MIRT2547289	hsa-miR-4740-3p	CLIP-seq
MIRT2547290	hsa-miR-4745-3p	CLIP-seq
MIRT2547291	hsa-miR-522	CLIP-seq
MIRT2547292	hsa-miR-555	CLIP-seq
MIRT2547293	hsa-miR-590-3p	CLIP-seq
MIRT2547294	hsa-miR-636	CLIP-seq
MIRT2547295	hsa-miR-656	CLIP-seq
MIRT2547296	hsa-miR-663b	CLIP-seq
MIRT2547297	hsa-miR-665	CLIP-seq
MIRT2547298	hsa-miR-708	CLIP-seq
MIRT2682422	hsa-miR-1227	CLIP-seq
MIRT2547258	hsa-miR-1252	CLIP-seq
MIRT2682423	hsa-miR-1255a	CLIP-seq
MIRT2682424	hsa-miR-1255b	CLIP-seq
MIRT2682425	hsa-miR-181a	CLIP-seq
MIRT2682426	hsa-miR-181b	CLIP-seq
MIRT2682427	hsa-miR-181c	CLIP-seq
MIRT2682428	hsa-miR-181d	CLIP-seq
MIRT2682429	hsa-miR-198	CLIP-seq
MIRT2682430	hsa-miR-23a	CLIP-seq
MIRT2682431	hsa-miR-23b	CLIP-seq
MIRT2682432	hsa-miR-23c	CLIP-seq
MIRT2682433	hsa-miR-3160-3p	CLIP-seq
MIRT2547270	hsa-miR-3190	CLIP-seq
MIRT2547271	hsa-miR-3202	CLIP-seq
MIRT2682434	hsa-miR-323-3p	CLIP-seq
MIRT2682435	hsa-miR-326	CLIP-seq
MIRT2682436	hsa-miR-330-5p	CLIP-seq
MIRT2682437	hsa-miR-3647-3p	CLIP-seq
MIRT2682438	hsa-miR-3663-5p	CLIP-seq
MIRT2682439	hsa-miR-3691-3p	CLIP-seq
MIRT2682440	hsa-miR-4262	CLIP-seq
MIRT2547277	hsa-miR-4267	CLIP-seq
MIRT2682441	hsa-miR-4289	CLIP-seq
MIRT2547280	hsa-miR-4318	CLIP-seq
MIRT2682442	hsa-miR-4487	CLIP-seq
MIRT2682443	hsa-miR-4528	CLIP-seq
MIRT2547284	hsa-miR-4533	CLIP-seq
MIRT2547285	hsa-miR-4662a-3p	CLIP-seq
MIRT2682444	hsa-miR-4694-5p	CLIP-seq
MIRT2682445	hsa-miR-4782-5p	CLIP-seq
MIRT2682446	hsa-miR-493	CLIP-seq
MIRT2682447	hsa-miR-558	CLIP-seq
MIRT2682448	hsa-miR-593	CLIP-seq
MIRT2682449	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
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	IDA	15665309
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 18482256, 21653829, 23088713, 23455924, 25416956, 25910212, 28514442, 29892012, 30886144, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007605	Process	Sensory perception of sound	IDA	16155570
GO:0007634	Process	Optokinetic behavior	IDA	16155570
GO:0009653	Process	Anatomical structure morphogenesis	IMP	16155570
GO:0021599	Process	Abducens nerve formation	IMP	16155570
GO:0042473	Process	Outer ear morphogenesis	IDA	16155570
GO:0042802	Function	Identical protein binding	IPI	21516116, 25416956, 30886144, 32296183
GO:0043565	Function	Sequence-specific DNA binding	IDA	23332764
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15665309
GO:0048702	Process	Embryonic neurocranium morphogenesis	IMP	16155570
GO:0048839	Process	Inner ear development	IMP	16155570
GO:0048844	Process	Artery morphogenesis	IMP	16155570
GO:0050795	Process	Regulation of behavior	IDA	16155570
GO:0050890	Process	Cognition	IDA	16155570
GO:0050905	Process	Neuromuscular process	IDA	16155570
GO:0060840	Process	Artery development	IMP	16155570
GO:0060876	Process	Semicircular canal formation	IMP	16155570
GO:0090102	Process	Cochlea development	IMP	16155570
GO:0090103	Process	Cochlea morphogenesis	IMP	16155570
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 142955
• HGNC: 5099
• e!Ensembl: ENSG00000105991

Protein

• UniProt ID: P49639
• Protein name: Homeobox protein Hox-A1 (Homeobox protein Hox-1F)
• Protein function: Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (PubMe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	230 → 286	Homeodomain	Domain

• Sequence:

  MDNARMNSFLEYPILSSGDSGTCSARAYPSDHRITTFQSCAVSANSCGGDDRFLVGRGVQ
  IGSPHHHHHHHHHHPQPATYQTSGNLGVSYSHSSCGPSYGSQNFSAPYSPYALNQEADVS
  GGYPQCAPAVYSGNLSSPMVQHHHHHQGYAGGAVGSPQYIHHSYGQEHQSLALATYNNSL
  SPLHASHQEACRSPASETSSPAQTFDWMKVKRNPPKTGKVGEYGYLGQPNAVRTNFTTKQ
  LTELEKEFHFNKYLTRARRVEIAASLQLNETQVKIWFQNRRMKQKKREKEGLLPISPATP
  PGNDEKAEESSEKSSSSPCVPSPGSSTSDTLTTSH

• Sequence length: 335

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

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
Bosley-Salih-Alorainy syndrome	Pathogenic	rs769152039, rs104894017, rs1562700083	RCV000016027 RCV000016028 RCV000016030	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Human HOXA1 syndromes	Likely pathogenic; Pathogenic	rs769512832, rs769152039, rs104894018	RCV001806297 RCV000984930 RCV000016029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHABASKAN BRAINSTEM DYSGENESIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOXA1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12893766, 15302897		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16525661		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17967182		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31325426		★☆☆☆☆ Found in Text Mining only
Athabaskan brainstem dysgenesis	Human HOXA1 syndromes	GENOMICS_ENGLAND_DG	12833395, 16155570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Athabaskan brainstem dysgenesis	Athabaskan brainstem dysgenesis	Pubtator	17875913, 18412118	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Athabaskan brainstem dysgenesis	Human HOXA1 syndromes	BEFREE	18412118, 21940751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Athabaskan brainstem dysgenesis	Human HOXA1 syndromes	ORPHANET_DG	18412118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Athabaskan brainstem dysgenesis	Human HOXA1 syndromes	CTD_human_DG	24239177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Athabaskan brainstem dysgenesis	Human HOXA1 syndromes	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Athabaskan brainstem dysgenesis syndrome	Athabaskan Brainstem Dysgenesis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	31325426		★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	21120523		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22359339	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	11091361, 12027529, 21980499, 22359339		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11091361, 11840501, 12210285, 12908836, 14681917, 14960295, 17171652, 19018953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	11091361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	16155570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	20227628, 22359339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22020899		★☆☆☆☆ Found in Text Mining only
Bosley-Salih-Alorainy Syndrome	Bosley-Salih-Alorainy Syndrome	BEFREE	17875913, 18412118		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bosley-Salih-Alorainy Syndrome	Bosley-Salih-Alorainy Syndrome	ORPHANET_DG	17875913		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bosley-Salih-Alorainy syndrome	Bosley-Salih-Alorainy Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bosley-Salih-Alorainy Syndrome	Bosley-Salih-Alorainy Syndrome	CTD_human_DG	24239177		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bosley-Salih-Alorainy Syndrome	Bosley-Salih-Alorainy Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bosley-Salih-Alorainy Syndrome	Bosley-Salih-Alorainy Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY, TYPE D	Brachydactyly	BEFREE	24022874		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22864671, 23064471, 25106087, 26417931, 27382069, 30320894, 30783466		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16373333, 22037257, 26417931, 27382069, 30259272, 34180753, 7488013, 8670198	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22498108, 28893210	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30168613	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22020899		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11070089, 29662483		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31210292		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	18412118	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	20075099	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30896864, 31114990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30896864, 31114990		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17550320, 29484968	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17203192, 17254481		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	17197532		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17197532	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29137689	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	20227628	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	22950449		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	21940751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	22777240		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CTD_human_DG	10529420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital small ears	Microtia	BEFREE	26035869		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	20227628	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22777240		★☆☆☆☆ Found in Text Mining only
Cranioschisis	Anencephaly	CTD_human_DG	10529420		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	17197532	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia	Deafness with congenital inner ear agenesis, microtia, and microdontia	Pubtator	20075099	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)	Deafness	BEFREE	9450185		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30731321		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	17197532, 22950449, 24138051		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	17197532	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28189678		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28189678		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	9731483		★☆☆☆☆ Found in Text Mining only
gaze palsy familial horizontal with progressive scoliosis	Horizontal gaze palsy with progressive scoliosis	Pubtator	18412118, 20227628	Associate	★☆☆☆☆ Found in Text Mining only
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis	Gaze Palsy, With Progressive Scoliosis	BEFREE	24138051		★☆☆☆☆ Found in Text Mining only
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1	Gaze palsy, familial horizontal, with progressive scoliosis	BEFREE	24138051		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	29164581		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	29164581	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30376874		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30376874		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35349479	Stimulate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	20227628	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	18412118	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24789793	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17197532		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	16155570		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	18412118, 20227628	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	21510772		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Interrupted aortic arch	Interrupted aortic arch	BEFREE	21940751		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	28893210	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1348930, 22990017		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31426381	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	12893766	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28540746, 31426381		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22864671, 29693150		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17967182, 22693540	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35633885	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	40185033	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22864671, 25106087, 26417931, 27382069, 30320894, 30783466		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28189678		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11070089, 29662483		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31210292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22407312		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26135141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26791264		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22020899		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20130947, 22020899, 26791264, 30641296, 30783466		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30896864, 31114990		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27382069		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	28657121		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15551325, 23435427, 28657121		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21510772		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	11070089		★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	20227628, 21510772, 24612975		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	20227628	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29228867		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16373333, 17213808, 22498108, 26791264, 28540746, 30376874		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23534758, 29658571, 30628697		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31210292		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33332731	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22407312		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26135141		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32561925	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	12027529		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	24559685, 30596070		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26707824	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16525661, 17294802, 22498108, 22864671		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22498108, 33285674, 34406843	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26791264		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18158559, 24498243	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	21940751		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	21940751		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12824890, 27296950, 30896864, 31114990, 34606634	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	22777240		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	15561107		★☆☆☆☆ Found in Text Mining only