STRA6 (signaling receptor and transporter of retinol STRA6)

Gene

• Entrez ID: 64220
• Gene name: Signaling receptor and transporter of retinol STRA6
• Gene symbol: STRA6
• Synonyms (NCBI Gene): MCOPCB8, MCOPS9, PP14296, SLC69A1
• Chromosome: 15
• Chromosome location: 15q24.1
• Summary: The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203958	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs118203959	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs118203960	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs118203961	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs118203962	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs139775570	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs144691445	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs150814749	C>T	Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs151341424	CC>TT	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs267607096	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs372931895	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs397514638	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs397514639	C>A,T	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs397518484	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs606231125	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs606231126	AGT>GG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs606231127	->C	Pathogenic, likely-pathogenic	3 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs794727153	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs869025269	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1064793275	->AACACTCTGCCCTCTGCCA	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1173479131	CA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555457882	TT>-	Pathogenic	Intron variant
rs1555457919	->G,GG	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1567177198	->A	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1399179	hsa-miR-1254	CLIP-seq
MIRT1399180	hsa-miR-146b-3p	CLIP-seq
MIRT1399181	hsa-miR-3116	CLIP-seq
MIRT1399182	hsa-miR-3173-5p	CLIP-seq
MIRT1399183	hsa-miR-4474-3p	CLIP-seq
MIRT1399184	hsa-miR-4764-5p	CLIP-seq
MIRT1399185	hsa-miR-604	CLIP-seq
MIRT1399186	hsa-miR-647	CLIP-seq
MIRT1399187	hsa-miR-874	CLIP-seq
MIRT1399188	hsa-miR-1208	CLIP-seq
MIRT1399189	hsa-miR-1256	CLIP-seq
MIRT1399190	hsa-miR-1275	CLIP-seq
MIRT1399191	hsa-miR-2355-5p	CLIP-seq
MIRT1399192	hsa-miR-3679-3p	CLIP-seq
MIRT1399193	hsa-miR-4447	CLIP-seq
MIRT1399194	hsa-miR-4472	CLIP-seq
MIRT1399195	hsa-miR-4488	CLIP-seq
MIRT1399196	hsa-miR-452	CLIP-seq
MIRT1399197	hsa-miR-4651	CLIP-seq
MIRT1399198	hsa-miR-4665-5p	CLIP-seq
MIRT1399199	hsa-miR-4676-3p	CLIP-seq
MIRT1399200	hsa-miR-4697-5p	CLIP-seq
MIRT1399201	hsa-miR-608	CLIP-seq
MIRT2341808	hsa-miR-1200	CLIP-seq
MIRT2341809	hsa-miR-1287	CLIP-seq
MIRT2341810	hsa-miR-4324	CLIP-seq
MIRT2341811	hsa-miR-544b	CLIP-seq
MIRT2341812	hsa-miR-561	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IMP	17273977
GO:0001822	Process	Kidney development	IMP	17273977
GO:0003184	Process	Pulmonary valve morphogenesis	IMP	17273977
GO:0003281	Process	Ventricular septum development	IMP	17273977
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21901792
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007507	Process	Heart development	IMP	17273977
GO:0007612	Process	Learning	IMP	17273977
GO:0007631	Process	Feeding behavior	IMP	17273977
GO:0016020	Component	Membrane	IEA
GO:0016918	Function	Retinal binding	IEA
GO:0019841	Function	Retinol binding	IEA
GO:0030324	Process	Lung development	IMP	17273977
GO:0030325	Process	Adrenal gland development	IMP	17273977
GO:0030540	Process	Female genitalia development	IMP	17273977
GO:0032991	Component	Protein-containing complex	IDA
GO:0034632	Function	Retinol transmembrane transporter activity	IDA	21901792
GO:0034632	Function	Retinol transmembrane transporter activity	IEA
GO:0034633	Process	Retinol transport	IDA	21901792
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042297	Process	Vocal learning	IMP	17273977
GO:0043010	Process	Camera-type eye development	IMP	21901792
GO:0043583	Process	Ear development	IMP	17273977
GO:0043585	Process	Nose morphogenesis	IMP	17273977
GO:0048286	Process	Lung alveolus development	IMP	17273977
GO:0048520	Process	Positive regulation of behavior	IMP	17273977
GO:0048546	Process	Digestive tract morphogenesis	IMP	17273977
GO:0048566	Process	Embryonic digestive tract development	IMP	17273977
GO:0048589	Process	Developmental growth	IMP	17273977
GO:0048745	Process	Smooth muscle tissue development	IMP	17273977
GO:0048844	Process	Artery morphogenesis	IMP	17273977
GO:0050890	Process	Cognition	IMP	17273977
GO:0050905	Process	Neuromuscular process	IMP	17273977
GO:0060322	Process	Head development	IMP	17273977
GO:0060323	Process	Head morphogenesis	IMP	17273977
GO:0060325	Process	Face morphogenesis	IMP	17273977
GO:0060426	Process	Lung vasculature development	IMP	17273977
GO:0060539	Process	Diaphragm development	IMP	17273977
GO:0060900	Process	Embryonic camera-type eye formation	IMP	17273977
GO:0061029	Process	Eyelid development in camera-type eye	IMP	17273977
GO:0061038	Process	Uterus morphogenesis	IMP	17273977
GO:0061143	Process	Alveolar primary septum development	IMP	17273977
GO:0061156	Process	Pulmonary artery morphogenesis	IMP	17273977
GO:0061205	Process	Paramesonephric duct development	IMP	17273977
GO:0071939	Process	Vitamin A import into cell	IBA
GO:0097070	Process	Ductus arteriosus closure	IMP	19500772

Other IDs

• MIM: 610745
• HGNC: 30650
• e!Ensembl: ENSG00000137868

Protein

• UniProt ID: Q9BX79
• Protein name: Receptor for retinol uptake STRA6 (Retinol-binding protein receptor STRA6) (Stimulated by retinoic acid gene 6 protein homolog)
• Protein function: Functions as a retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14752	RBP_receptor	41 → 657		Family

• Tissue specificity: TISSUE SPECIFICITY: Broad expression. In adult eye expressed in sclera, retina, retinal pigment epithelium, and trabecular meshwork but not in choroid and iris. {ECO:0000269|PubMed:17273977}.
• Sequence:

  MSSQPAGNQTSPGATEDYSYGSWYIDEPQGGEELQPEGEVPSCHTSIPPGLYHACLASLS
  ILVLLLLAMLVRRRQLWPDCVRGRPGLPSPVDFLAGDRPRAVPAAVFMVLLSSLCLLLPD
  EDALPFLTLASAPSQDGKTEAPRGAWKILGLFYYAALYYPLAACATAGHTAAHLLGSTLS
  WAHLGVQVWQRAECPQVPKIYKYYSLLASLPLLLGLGFLSLWYPVQLVRSFSRRTGAGSK
  GLQSSYSEEYLRNLLCRKKLGSSYHTSKHGFLSWARVCLRHCIYTPQPGFHLPLKLVLSA
  TLTGTAIYQVALLLLVGVVPTIQKVRAGVTTDVSYLLAGFGIVLSEDKQEVVELVKHHLW
  ALEVCYISALVLSCLLTFLVLMRSLVTHRTNLRALHRGAALDLSPLHRSPHPSRQAIFCW
  MSFSAYQTAFICLGLLVQQIIFFLGTTALAFLVLMPVLHGRNLLLFRSLESSWPFWLTLA
  LAVILQNMAAHWVFLETHDGHPQLTNRRVLYAATFLLFPLNVLVGAMVATWRVLLSALYN
  AIHLGQMDLSLLPPRAATLDPGYYTYRNFLKIEVSQSHPAMTAFCSLLLQAQSLLPRTMA
  APQDSLRPGEEDEGMQLLQTKDSMAKGARPGASRGRARWGLAYTLLHNPTLQVFRKTALL
  GANGAQP

• Sequence length: 667

Pathways

Reactome:

Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)

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
Anophthalmia-microphthalmia syndrome	Pathogenic	rs144691445, rs372931895, rs869025269	RCV000207387 RCV000207384 RCV000207353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs770136705	RCV005868364	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Matthew-Wood syndrome	Pathogenic; Likely pathogenic	rs2074102664, rs2142004122, rs570214336, rs1595838712, rs118203958, rs606231125, rs118203960, rs118203961, rs606231126, rs606231127, rs1555457919, rs267607096, rs1555457882, rs151341424, rs397514638, rs397514639, rs1567177198, rs2073766224, rs2073763723, rs751838285, rs397518484, rs759933321, rs1367215268, rs2073803030, rs773297007	RCV001332463 RCV001374460 RCV001814902 RCV001884155 RCV000001192 RCV000001193 RCV000001195 RCV000001196 RCV000001198 RCV000001199 RCV000001200 RCV000001201 RCV000515456 RCV000032958 RCV000033165 RCV000033166 RCV000694327 RCV001169873 RCV001205377 RCV001222856 RCV000074414 RCV001229031 RCV001265556 RCV001265555 RCV002760512	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia	Likely pathogenic	rs750864641	RCV002291349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia, isolated, with coloboma 8	Pathogenic	rs151341424	RCV000032957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STRA6-related disorder	Likely pathogenic; Pathogenic	rs118203960, rs397514639	RCV005867718 RCV000509414	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOPHTHALMIA WITH PULMONARY HYPOPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA AND MENTAL DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 9	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS CO-OCCURRENT WITH CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic Microphthalmia, Recessive	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alveolar capillary dysplasia	Alveolar capillary dysplasia	CTD_human_DG	17273977		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	17273977	Associate	★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	UNIPROT_DG	17273977, 17503335, 21368206, 21901792		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	17273977, 19839040		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	17503335, 18316031, 19309693, 19839040, 21901792, 22283518, 23591992, 24075189, 26373900, 28398665		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	CTD_human_DG	17503335		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	ORPHANET_DG	17503335		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	CLINVAR_DG	26893459		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	17503335, 24075189, 25816144, 32597569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	BEFREE	17273977, 17503335, 19112531, 19309693, 19839040, 21901792, 22686418, 23591992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	LHGDN	17273977, 19112531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	CTD_human_DG	17273977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Anophthalmia	Pubtator	17273977, 19112531, 24431331, 30880327, 32597569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36843593	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31828095	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	22686418		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	CTD_human_DG	18316031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colobomatous microphthalmia	Microphthalmia With Coloboma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	28689994		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	25237067		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25237067	Associate	★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	26373900		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	LHGDN	17273977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	17273977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	22283518, 24859618		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	36789878	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30905621		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30882700	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30905621		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20625434, 27446956, 30882700	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20625434, 27446956, 28733465, 30882700		★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic malformations	Pubtator	17503335	Associate	★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	23591992		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	17273977	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	17503335		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32597569	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25237067	Stimulate	★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	17273977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	17273977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	17273977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	19309693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	CTD_human_DG	17273977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	17273977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31694721		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28689994		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28689994		★☆☆☆☆ Found in Text Mining only
Malrotation of kidney	Malrotation Of Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Matthew-Wood syndrome	Matthew-Wood Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mental deficiency	Mental retardation	CTD_human_DG	17273977		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19309693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31597015		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8	Microphthalmia With Coloboma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmos	Microphthalmos	BEFREE	17503335, 19112531, 22283518, 22686418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	17503335, 19112531, 30880327, 32962661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	CTD_human_DG	18316031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	30472251		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11358845, 23449393, 25237067		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29067460		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	17503335	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	17273977		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	23449393		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23449393		★☆☆☆☆ Found in Text Mining only
Single Ventricle Defect	Single Ventricle Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31694721		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32859629	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35874675	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36843593	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19309693		★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only