ALDH1A3 (aldehyde dehydrogenase 1 family member A3)

Gene

• Entrez ID: 220
• Gene name: Aldehyde dehydrogenase 1 family member A3
• Gene symbol: ALDH1A3
• Synonyms (NCBI Gene): ALDH1A6, ALDH6, MCOP8, RALDH3
• Chromosome: 15
• Chromosome location: 15q26.3
• Summary: This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs386834230	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514652	C>T	Pathogenic	Coding sequence variant, missense variant
rs1191459372	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021438	hsa-miR-9-5p	Microarray	17612493
MIRT025948	hsa-miR-7-5p	Microarray	17612493
MIRT718400	hsa-miR-4476	HITS-CLIP	19536157
MIRT718399	hsa-miR-6876-5p	HITS-CLIP	19536157
MIRT718398	hsa-miR-3928-3p	HITS-CLIP	19536157
MIRT718397	hsa-miR-4533	HITS-CLIP	19536157
MIRT718396	hsa-miR-3915	HITS-CLIP	19536157
MIRT718395	hsa-miR-1224-5p	HITS-CLIP	19536157
MIRT718394	hsa-miR-4689	HITS-CLIP	19536157
MIRT718393	hsa-miR-6858-5p	HITS-CLIP	19536157
MIRT718392	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT694418	hsa-miR-8485	HITS-CLIP	23313552
MIRT694417	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT694416	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT694415	hsa-miR-603	HITS-CLIP	23313552
MIRT694414	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT694413	hsa-miR-4802-3p	HITS-CLIP	23313552
MIRT694412	hsa-miR-942-3p	HITS-CLIP	23313552
MIRT694411	hsa-miR-182-3p	HITS-CLIP	23313552
MIRT694410	hsa-miR-597-3p	HITS-CLIP	23313552
MIRT694409	hsa-miR-152-5p	HITS-CLIP	23313552
MIRT694408	hsa-miR-3941	HITS-CLIP	23313552
MIRT694407	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT694406	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT694405	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT694404	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT694403	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT694402	hsa-let-7f-2-3p	HITS-CLIP	23313552
MIRT694401	hsa-miR-1185-1-3p	HITS-CLIP	23313552
MIRT694400	hsa-miR-1185-2-3p	HITS-CLIP	23313552
MIRT694399	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT718400	hsa-miR-4476	HITS-CLIP	19536157
MIRT718399	hsa-miR-6876-5p	HITS-CLIP	19536157
MIRT718398	hsa-miR-3928-3p	HITS-CLIP	19536157
MIRT718397	hsa-miR-4533	HITS-CLIP	19536157
MIRT718396	hsa-miR-3915	HITS-CLIP	19536157
MIRT718395	hsa-miR-1224-5p	HITS-CLIP	19536157
MIRT718394	hsa-miR-4689	HITS-CLIP	19536157
MIRT718393	hsa-miR-6858-5p	HITS-CLIP	19536157
MIRT718392	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT694418	hsa-miR-8485	HITS-CLIP	23313552
MIRT694417	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT694416	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT694415	hsa-miR-603	HITS-CLIP	23313552
MIRT694414	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT694413	hsa-miR-4802-3p	HITS-CLIP	23313552
MIRT694412	hsa-miR-942-3p	HITS-CLIP	23313552
MIRT694411	hsa-miR-182-3p	HITS-CLIP	23313552
MIRT694410	hsa-miR-597-3p	HITS-CLIP	23313552
MIRT694409	hsa-miR-152-5p	HITS-CLIP	23313552
MIRT694408	hsa-miR-3941	HITS-CLIP	23313552
MIRT694407	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT694406	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT694405	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT694404	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT694403	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT694402	hsa-let-7f-2-3p	HITS-CLIP	23313552
MIRT694401	hsa-miR-1185-1-3p	HITS-CLIP	23313552
MIRT694400	hsa-miR-1185-2-3p	HITS-CLIP	23313552
MIRT694399	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT755921	hsa-miR-4524b-5p	Luciferase reporter assay	37551838
MIRT776983	hsa-miR-105	CLIP-seq
MIRT776984	hsa-miR-1208	CLIP-seq
MIRT776985	hsa-miR-1229	CLIP-seq
MIRT776986	hsa-miR-1323	CLIP-seq
MIRT776987	hsa-miR-3150b-3p	CLIP-seq
MIRT776988	hsa-miR-3689d	CLIP-seq
MIRT776989	hsa-miR-4784	CLIP-seq
MIRT776990	hsa-miR-548o	CLIP-seq
MIRT1929434	hsa-miR-3120-3p	CLIP-seq
MIRT1929435	hsa-miR-3125	CLIP-seq
MIRT1929436	hsa-miR-3177-5p	CLIP-seq
MIRT1929437	hsa-miR-3916	CLIP-seq
MIRT1929438	hsa-miR-4693-3p	CLIP-seq
MIRT1929439	hsa-miR-4768-3p	CLIP-seq
MIRT1929440	hsa-miR-548q	CLIP-seq
MIRT2170095	hsa-miR-1243	CLIP-seq
MIRT2170096	hsa-miR-127-5p	CLIP-seq
MIRT2170097	hsa-miR-1289	CLIP-seq
MIRT2170098	hsa-miR-15a	CLIP-seq
MIRT2170099	hsa-miR-15b	CLIP-seq
MIRT2170100	hsa-miR-16	CLIP-seq
MIRT2170101	hsa-miR-195	CLIP-seq
MIRT2170102	hsa-miR-3065-5p	CLIP-seq
MIRT2170103	hsa-miR-3150a-5p	CLIP-seq
MIRT2170104	hsa-miR-3150b-5p	CLIP-seq
MIRT2170105	hsa-miR-3198	CLIP-seq
MIRT2170106	hsa-miR-338-5p	CLIP-seq
MIRT2170107	hsa-miR-3654	CLIP-seq
MIRT2170108	hsa-miR-424	CLIP-seq
MIRT2170109	hsa-miR-4294	CLIP-seq
MIRT2170110	hsa-miR-4309	CLIP-seq
MIRT2170111	hsa-miR-4524	CLIP-seq
MIRT2170112	hsa-miR-497	CLIP-seq
MIRT2170113	hsa-miR-503	CLIP-seq
MIRT2170114	hsa-miR-545	CLIP-seq
MIRT2170115	hsa-miR-548ag	CLIP-seq
MIRT2170116	hsa-miR-548ai	CLIP-seq
MIRT2170117	hsa-miR-548m	CLIP-seq
MIRT2170118	hsa-miR-646	CLIP-seq
MIRT2443548	hsa-miR-3671	CLIP-seq
MIRT2443549	hsa-miR-371-5p	CLIP-seq
MIRT2443550	hsa-miR-371b-5p	CLIP-seq
MIRT2443551	hsa-miR-513c	CLIP-seq
MIRT2443552	hsa-miR-514b-5p	CLIP-seq
MIRT2443553	hsa-miR-590-3p	CLIP-seq
MIRT2472905	hsa-miR-3152-3p	CLIP-seq
MIRT2472906	hsa-miR-548c-3p	CLIP-seq
MIRT2472907	hsa-miR-556-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Unknown	17526768

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IDA	27759097
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IEA
GO:0002072	Process	Optic cup morphogenesis involved in camera-type eye development	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IDA	27759097
GO:0002138	Process	Retinoic acid biosynthetic process	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IEA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IEA
GO:0004030	Function	Aldehyde dehydrogenase [NAD(P)+] activity	IDA	11585737
GO:0004030	Function	Aldehyde dehydrogenase [NAD(P)+] activity	IEA
GO:0005737	Component	Cytoplasm	IDA	11585737
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006081	Process	Aldehyde metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0021768	Process	Nucleus accumbens development	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0031076	Process	Embryonic camera-type eye development	ISS
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IDA	11585737
GO:0042573	Process	Retinoic acid metabolic process	IEA
GO:0042574	Process	Retinal metabolic process	IDA	11585737
GO:0042803	Function	Protein homodimerization activity	IDA	11585737
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043584	Process	Nose development	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0048048	Process	Embryonic eye morphogenesis	ISS
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051289	Process	Protein homotetramerization	IDA	27759097
GO:0060013	Process	Righting reflex	IEA
GO:0060166	Process	Olfactory pit development	IEA
GO:0060324	Process	Face development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070324	Function	Thyroid hormone binding	IEA
GO:0070384	Process	Harderian gland development	IEA
GO:0070403	Function	NAD+ binding	IEA

Other IDs

• MIM: 600463
• HGNC: 409
• e!Ensembl: ENSG00000184254

Protein

• UniProt ID: P47895
• Protein name: Retinaldehyde dehydrogenase 3 (RALDH-3) (RalDH3) (EC 1.2.1.36) (Aldehyde dehydrogenase 6) (Aldehyde dehydrogenase family 1 member A3) (ALDH1A3)
• Protein function: Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (By simil
• PDB: 5FHZ, 6S6W, 6TE5, 6TGW, 6TRY, 7A6Q, 7QK7, 7QK8, 7QK9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	40 → 503	Aldehyde dehydrogenase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney. {ECO:0000269|PubMed:7698756}.
• Sequence:

  MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQI
  CEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETM
  DTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPW
  NFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTV
  GAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVE
  CAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQK
  QFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPIL
  KFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGF
  KMSGNGRELGEYALAEYTEVKTVTIKLGDKNP

• Sequence length: 512

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

RA biosynthesis pathway

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
Autism	Likely pathogenic	rs797046134	RCV000194309	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated anophthalmia-microphthalmia syndrome	Likely pathogenic; Pathogenic	rs1567174297, rs1470193684, rs1164081840	RCV000710043 RCV001256182 RCV001256183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated microphthalmia 8	Likely pathogenic; Pathogenic	rs547918064, rs2141554930, rs1199864354, rs754619607, rs2505576497, rs2505549879, rs1422193527, rs2505570932, rs2505570620, rs397514652, rs397514653, rs78931658	RCV002547642 RCV001874973 RCV003229638 RCV003229639 RCV003229641 RCV003229642 RCV003229645 RCV003229646 RCV003229647 RCV003988731 RCV000033221 RCV000033222 RCV000033223	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia	Likely pathogenic	rs547918064	RCV004798940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALDH1A3-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CYSTIC EYEBALL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 8	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS CO-OCCURRENT WITH CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	24167362, 24907115		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29720480		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	27706811		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	27706811		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29812970		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	34827649	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	36997679	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	23312594, 23591992, 23881059, 24568872, 24777706, 26873617, 28590501, 30200890		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	23312594, 23881059, 30200890, 36997679	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34456632	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24024553, 26352270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	36997679	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bile acid synthesis defect congenital 2	Congenital bile acid synthesis defect	Pubtator	23312594	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30958802		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	30958802	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21280157, 25106087, 26687806, 27286452, 27842518, 28937653, 31347176		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29192143, 37511575, 37753740	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31545416	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24047698		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37267864	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35096270	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18854940	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33991687	Associate	★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	BEFREE	14623956		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	27076629		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29235568		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27706811		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30143021		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26291085, 29235568, 33472949, 36148682	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	29359783		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	24859618		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	24024553		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	32680476	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	36997679	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	30379862	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	30379862	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30379862		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24167362	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25684492, 26506879, 29306018, 30538217, 30958800, 30958802		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25684492, 26506879, 34827559, 37947601, 39513909	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32680476	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26506879, 29306018, 30538217, 30958800, 30958802		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26575197, 31642564		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26575197, 27759097, 28423611, 34934174, 36996494	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24024553		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33991687	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	24167362	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	40449756	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	BEFREE	23591992		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35275975	Associate	★☆☆☆☆ Found in Text Mining only
Isolated microphthalmia-anophthalmia-coloboma	Isolated Microphthalmia-Anophthalmia-Coloboma	Orphanet			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24047698	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24167362	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	23650391, 30538217		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	30958802		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21280157, 25106087, 26687806, 27286452, 27842518, 28937653, 31347176		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24167362		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24047698		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24053169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17526768, 25969992, 28443495		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24053169, 25451256, 26991532, 27076629, 28216163, 28423611, 28443495, 29720480, 30622340, 30958995		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29235568		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21280157, 31197235		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	23650391		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	34934174	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31580832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	31580832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	31580832	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	29302888		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37047661	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	24884875, 34769499, 37047661	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	31580832		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED 1	Microphthalmia	ORPHANET_DG	23312594		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED 8	Microphthalmia	GENOMICS_ENGLAND_DG	11826019, 24859610, 24859618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 8	Microphthalmia	UNIPROT_DG	23312594, 23591992, 23646827, 23881059, 24024553, 24568872, 24777706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 8	Microphthalmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 8	Microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	23312594, 23591992, 23646827, 23881059, 24024553, 24568872, 24777706, 30200890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	23312594, 23881059, 30200890, 36997679	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos, Autosomal Recessive	Microphthalmos	ORPHANET_DG	23312594		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21280157, 24053169, 24907115, 25106087, 26462023, 26687806, 27286452, 27724856, 28581514, 29306018, 31580832, 31642564		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27724856		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24907115		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22852552, 33341649	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24053169		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24053169	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28040834		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24024553		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	12734205		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	12734205	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17526768, 25969992, 28443495		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25969992, 28443495, 30397274, 32375698, 33068330	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	25106087		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25106087		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36997679	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30379862		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923, 27015121	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	31443351		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25106087, 26462023, 27842518, 31197235		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37753740	Associate	★☆☆☆☆ Found in Text Mining only