ZNF469 (zinc finger protein 469)

Gene

• Entrez ID: 84627
• Gene name: Zinc finger protein 469
• Gene symbol: ZNF469
• Synonyms (NCBI Gene): BCS, BCS1, Zfp469
• Chromosome: 16
• Chromosome location: 16q24.2
• Summary: This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1525775	hsa-miR-15a	CLIP-seq
MIRT1525776	hsa-miR-15b	CLIP-seq
MIRT1525777	hsa-miR-16	CLIP-seq
MIRT1525778	hsa-miR-185	CLIP-seq
MIRT1525779	hsa-miR-195	CLIP-seq
MIRT1525780	hsa-miR-23a	CLIP-seq
MIRT1525781	hsa-miR-23b	CLIP-seq
MIRT1525782	hsa-miR-23c	CLIP-seq
MIRT1525783	hsa-miR-25	CLIP-seq
MIRT1525784	hsa-miR-29a	CLIP-seq
MIRT1525785	hsa-miR-29b	CLIP-seq
MIRT1525786	hsa-miR-29c	CLIP-seq
MIRT1525787	hsa-miR-3154	CLIP-seq
MIRT1525788	hsa-miR-32	CLIP-seq
MIRT1525789	hsa-miR-323-3p	CLIP-seq
MIRT1525790	hsa-miR-338-3p	CLIP-seq
MIRT1525791	hsa-miR-363	CLIP-seq
MIRT1525792	hsa-miR-367	CLIP-seq
MIRT1525793	hsa-miR-424	CLIP-seq
MIRT1525794	hsa-miR-4306	CLIP-seq
MIRT1525795	hsa-miR-451b	CLIP-seq
MIRT1525796	hsa-miR-4530	CLIP-seq
MIRT1525797	hsa-miR-4643	CLIP-seq
MIRT1525798	hsa-miR-4644	CLIP-seq
MIRT1525799	hsa-miR-466	CLIP-seq
MIRT1525800	hsa-miR-4696	CLIP-seq
MIRT1525801	hsa-miR-4742-3p	CLIP-seq
MIRT1525802	hsa-miR-4789-3p	CLIP-seq
MIRT1525803	hsa-miR-4802-5p	CLIP-seq
MIRT1525804	hsa-miR-497	CLIP-seq
MIRT1525805	hsa-miR-630	CLIP-seq
MIRT1525806	hsa-miR-671-5p	CLIP-seq
MIRT1525807	hsa-miR-759	CLIP-seq
MIRT1525808	hsa-miR-92a	CLIP-seq
MIRT1525809	hsa-miR-92b	CLIP-seq
MIRT2158903	hsa-miR-1275	CLIP-seq
MIRT2158904	hsa-miR-1292	CLIP-seq
MIRT2158905	hsa-miR-3663-3p	CLIP-seq
MIRT2158906	hsa-miR-4297	CLIP-seq
MIRT2158907	hsa-miR-4468	CLIP-seq
MIRT2158908	hsa-miR-4525	CLIP-seq
MIRT2158909	hsa-miR-4665-5p	CLIP-seq
MIRT2158910	hsa-miR-4723-5p	CLIP-seq
MIRT2158911	hsa-miR-625	CLIP-seq
MIRT2378303	hsa-miR-101	CLIP-seq
MIRT2378304	hsa-miR-1266	CLIP-seq
MIRT2378305	hsa-miR-1272	CLIP-seq
MIRT2378306	hsa-miR-1322	CLIP-seq
MIRT2378307	hsa-miR-144	CLIP-seq
MIRT2378308	hsa-miR-4518	CLIP-seq
MIRT2378309	hsa-miR-582-5p	CLIP-seq
MIRT2378310	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	21664999
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	34673265
GO:0005634	Component	Nucleus	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1903053	Process	Regulation of extracellular matrix organization	IMP	21664999

Other IDs

• MIM: 612078
• HGNC: 23216
• e!Ensembl: ENSG00000225614

Protein

• UniProt ID: Q96JG9
• Protein name: Zinc finger protein 469
• Protein function: May be involved in transcriptional regulation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	3310 → 3331	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in cornea, sclera, skin fibroblasts and striated muscle. {ECO:0000269|PubMed:18452888}.
• Sequence:

  MPGERPRGAPPPTMTGDLQPRQVASSPGHPSQPPLEDNTPATRTTKGAREAGGQAQAMEL
  PEAQPRQARDGELKPPSLRGQAPSSTPGKRGSPQTPPGRSPLQAPSRLAGRAEGSPPQRY
  ILGIASSRTKPTLDETPENPQLEAAQLPEVDTPQGPGTGAPLRPGLPRTEAQPAAEELGF
  HRCFQEPPSSFTSTNYTSPSATPRPPAPGPPQSRGTSPLQPGSYPEYQASGADSWPPAAE
  NSFPGANFGVPPAEPEPIPKGSRPGGSPRGVSFQFPFPALHGASTKPFPADVAGHAFTNG
  PLVFAFHQPQGAWPEEAVGTGPAYPLPTQPAPSPLPCYQGQPGGLNRHSDLSGALSSPGA
  AHSAPRPFSDSLHKSLTKILPERPPSAQDGLGSTRGPPSSLPQRHFPGQAYRASGVDTSP
  GPPDTELAAPGPPPARLPQLWDPTAAPYPTPPGGPLAATRSMFFNGQPSPGQRLCLPQSA
  PLPWPQVLPTARPSPHGMEMLSRLPFPAGGPEWQGGSQGALGTAGKTPGPREKLPAVRSS
  QGGSPALFTYNGMTDPGAQPLFFGVAQPQVSPHGTPSLPPPRVVGASPSESPLPSPATNT
  AGSTCSSLSPMSSSPANPSSEESQLPGPLGPSAFFHPPTHPQETGSPFPSPEPPHSLPTH
  YQPEPAKAFPFPADGLGAEGAFQCLEETPFPHEGPEVGRGGLQGFPRAPPPYPTHHFSLS
  SASLDQLDVLLTCRQCDRNYSSLAAFLAHRQFCGLLLARAKDGHQRSPGPPGLPSPPAAP
  RVPADAHAGLLSHAKTFLLAGDAQAEGKDDPLRTGFLPSLAATPFPLPASDLDMEDDAKL
  DSLITEALNGMEYQSDNPEIDSSFIDVFADEEPSGPRGPSSGHPLKSKAGVTPESKAPPP
  LPAATPDPQTPRPGDRGCPARGRPKTRSLGLAPTEADAPSQGRQQRRGKQLKLFRKDLDS
  GGAAEGSGSGGGGRASGLRPRRNDGLGERPPPRPRRPRTQAPGSRADPAPRVPRAAALPE
  ETRSSRRRRLPPRKDPRKRKARGGAWGKELILKIVQQKNRLREYDFASESEEDEQPPPRG
  PGFRGRRGRGEKRKEVELTQGPREDEPQKPRKAARQEAGGDGAPANPEEPGGSRPGPGRS
  PQARGPSRSLETGAAAREGGPKCADRPSVAPKDPLQVPTNTETSEETRPSLDFPQEAKEP
  ETAEESAPDSTEFTEALRSPPAACAGEMGASPGLLIPEQPPPSRHDTGTPKPSGSLANTA
  PHGSSPTPGVGSLLGGPGGTQAPVSHNSKDPPARQPGEFLAPVANPSSTACPKPSVLSSK
  ISSFGCDPAGFNRDPLGVPVAKKGPQPYSSPHSELFLGPKDLAGCFLEELHPKPSARDAP
  PASSSCLCQDGEDAGSLEPQLPRSPPGTAETEPGRAASPPTLESSSLFPDLPVDRFDPPL
  YGSLSANRDSGLPFACADPPQKTVPSDPPYPSFLLLEEVSPMLPSHFPDLSGGKVLSKTC
  PPERTVVPGAAPSLPGKGSGCSVALMSHLSEDELEIQKLVTELESQLQRSKDTRGAPREL
  AEAESVGRVELGTGTEPPSQRRTCQATVPHEDTFSAADLTRVGESTAHREGAESAVATVE
  AVQGRPGGTWPCPASFHPGHAALLPCAQEDLVSGAPFSPRGANFHFQPVQKAGASKTGLC
  QAEGDSRPPQDVCLPEPSKQPGPQLDAGSLAKCSPDQELSFPKNKEAASSQESEDSLRLL
  PCEQRGGFLPEPGTADQPHRGAPAPEAFGSPAVHLAPDLAFQGDGAPPLDATWPFGASPS
  HAAQGHSAGRAGGHLHPTAGRPGFEGNEFAPAGASSLTAPRGREAWLVPVPSPACVSNTH
  PSRRSQDPALSPPIRQLQLPGPGVAKSKDGILGLQELTPAAQSPPRVNPSGLEGGTVEGG
  KVACGPAQGSPGGVQVTTLPAVAGHQLGLEADGHWGLLGQAEKTQGQGTANQLQPENGVS
  PGGTDNHASVNASPKTALTGPTEGAVLLEKCKGSRAAMSLQEEAEPTPSPPSPNRESLAL
  ALTAAHSRSGSEGRTPERASSPGLNKPLLATGDSPAPSVGDLAACAPSPTSAAHMPCSLG
  PLPREDPLTSPSRAQGGLGGQLPASPSCRDPPGPQQLLACSPAWAPLEEADGVQATTDTG
  AEDSPVAPPSLTTSPCDPKEALAGCLLQGEGSPLEDPSSWPPGSVSAVTCTHSGDTPKDS
  TLRIPEDSRKEKLWESPGRATSPPLAGAVSPSVAVRATGLSSTPTGDEAQAGRGLPGPDP
  QSRGAPPHTNPDRMPRGHSSYSPSNTARLGHREGQAVTAVPTEPPTLQGAGPDSPACLEG
  EMGTSSKEPEDPGTPETGRSGATKMPRVTCPSTGLGLGRTTAPSSTASDFQSDSPQSHRN
  ASHQTPQGDPLGPQDLKQRSRGYKKKPASTENGQWKGQAPHGPVTCEVCAASFRSGPGLS
  RHKARKHRPHPGAPAEPSPAALPAQQPLEPLAQKCQPPRKKSHRVSGKERPNHSRGDPSH
  VTQPPPAQGSKEVLRAPGSPHSQQLHPPSPTEHEVDVKTPASKPRPDQAREDELHPKQAE
  KREGRRWRREPTVDSPSHSEGKSNKKRGKLRGRRLREESILPVSADVISDGRGSRPSPAM
  ASYAASPSHCLSVEGGPEADGEQPPRLATLGPGVMEGAAETDQEALCAGETGAQKPPGDR
  MLCPGRMDGAALGEQPTGQKGASARGFWGPRETKALGVCKESGSEPAEDSSRAHSRSEEG
  VWEENTPPLGPLGFPETSSSPADSTTSSCLQGLPDNPDTQGGVQGPEGPTPDASGSSAKD
  PPSLFDDEVSFSQLFPPGGRLTRKRNPHVYGKRCEKPVLPLPTQPSFEEGGDPTLGPARL
  PTDLSDSSSLCLCHEDPWEDEDPAGLPESFLLDGFLNSRVPGIDPWAPGLSLWALEPSRE
  AGAEKLPSHCPEDDRPEAIPELHMVPAAWRGLEMPAPADDSSSSLGDVSPEPPSLERERC
  DGGLPGNTHLLPLRATDFEVLSTKFEMQDLCFLGPFEDPVGLPGPSFLDFEGTASSQGPQ
  SRRTEEAAGAGRAQGRGRPAKGRRASYKCKVCFQRFRSLGELDLHKLAHTPAPPPTCYMC
  VERRFGSRELLRGHLQERHAQSKAGPWACGMCLKEVADVWMYNEHLREHAVRFARRGQAR
  RSLGDLPGGLEGSSAVAHLLNSITEPAPKHHRGKRSAGKAAGSPGDPWGQEGEAKKDSPG
  ERAKPRARSTPSNPDGAATPDSASATALADAGSPGPPRTTPSPSPDPWAGGEPLLQATPV
  HEACKDPSRDCHHCGKRFPKPFKLQRHLAVHSPQRVYLCPRCPRVYPEHGELLAHLGGAH
  GLLERPELQHTPLYACELCATVMRIIKKSFACSSCNYTFAKKEQFDRHMNKHLRGGRQPF
  AFRGVRRPGAPGQKARALEGTLPSKRRRVAMPGSAPGPGEDRPPPRGSSPILSEGSLPAL
  LHLCSEVAPSTTKGWPETLERPVDPVTHPIRGCELPSNHQECPPPSLSPFPAALADGRGD
  CALDGALERPENEASPGSPGPLLQQALPLGASLPRPGARGQDAEGKRAPLVFSGKRRAPG
  ARGRCAPDHFQEDHLLQKEKEVSSSHMVSEGGPRGTFHKGSATKPAGCQSSSKDRSAAST
  PSKALKFPVHPRKAVGSLAPGELARGTENGMKPATPKAKPGPSSQGSGSPRPGTKTGGGS
  QPQPASGQLQSETATTPAKPSFPSRSPAPERLPARAQAKSCTKGPREAGEQGPHGSLGPK
  EKGESSTKRKKGQVPGPARSESVGSFGRAPSAPDKPPRTPRKQATPSRVLPTKPKPNSQN
  KPRPPPSEQRKAEPGHTQRKDRLGKAFPQGRPLLRPPKRGTAVHGAEPAEPHTHRTAEAQ
  SDLLSQLFGQRLTGFKIPLKKDASE

• Sequence length: 3925

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
Brittle cornea syndrome 1	Pathogenic; Likely pathogenic	rs1232391570, rs2142304720, rs760186083, rs1172315984, rs1597210953, rs2142314304, rs2142312393, rs764139968, rs1567516825, rs2507590403, rs1368387219, rs2507597837, rs2507591028, rs886044697, rs779228663, rs1567510759, rs387907062, rs387907063, rs1555519050, rs1905872842, rs1484586294, rs1905923050, rs1906110243, rs1906662179	RCV005409047 RCV005247280 RCV001806810 RCV002509711 RCV000000766 RCV000000767 RCV002240095 RCV002228785 RCV005019414 RCV003123419 RCV003123420 RCV003226717 RCV003230962 RCV003313950 RCV005014862 RCV004527485 RCV000023931 RCV000023932 RCV004555867 RCV001260231 RCV001260229 RCV001260232 RCV001260233 RCV001260230	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs1259194902, rs764745826, rs1222304580, rs2507577853, rs761379794, rs886039575, rs886044697, rs2507588914, rs779228663, rs2507571255	RCV004996112 RCV002366476 RCV002369039 RCV002425574 RCV004990892 RCV004992137 RCV002365328 RCV003382109 RCV004992716 RCV004523444	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome	Likely pathogenic	rs762301873	RCV002277945	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus 1	Likely pathogenic; Pathogenic	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150	RCV000114773 RCV000114786 RCV000114787 RCV000114795 RCV000114798 RCV000114800	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brittle cornea syndrome	Conflicting classifications of pathogenicity	ClinVar HPO, Orphanet HPO, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF SKIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME 6B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZNF469-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12138246, 1366654, 15231671		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	39769491	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	39769491	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31987792	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20646866, 26832859, 27421187, 28597470, 30049436, 30384580, 30986424, 31372049, 31662515		★☆☆☆☆ Found in Text Mining only
Brittle cornea syndrome	Brittle Cornea Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brittle cornea syndrome 1	Brittle cornea syndrome	Pubtator	20485516, 21664999, 23680354, 25564447, 26560304, 29228253, 31107761, 32671420, 39769491	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	24345960		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	28597470		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	GENOMICS_ENGLAND_DG	23680354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Diseases	Corneal Diseases	CTD_human_DG	18452888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28005437		★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31758056		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	CTD_human_DG	18452888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	18452888, 20938016, 23680354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	BEFREE	19661234, 20485516, 21664999, 22814818, 23680354, 24895405, 25097247, 25564447, 26560304, 27032025, 29228253, 30115710, 30865045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	ORPHANET_DG	19661234, 20938016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33543230	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	37884635	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	23110055		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	25669751	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	25669751		★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	24345960		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	39769491	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	24265017, 24895405, 25097247, 25564447, 25675348, 26806788, 28622062, 29228253, 30916512, 31107761		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratoconus	Keratoconus	Pubtator	24895405, 25564447, 26040312, 26806788, 28207827, 28484309, 31107761, 38267912	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratoconus	Keratoconus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratoconus 1	Keratoconus	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30406869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20646866, 26832859, 27421187, 28597470, 30049436, 30384580, 30986424, 31372049, 31662515		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	29803161		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494, 37884635	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12138246, 28597470		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30496560		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28766214, 30118902, 30406869		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24963607		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	22452639		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	29803161		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	BEFREE	30115710		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28005437		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	26806788		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	29803161		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29755127		★☆☆☆☆ Found in Text Mining only