Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	158326
Gene name	FRAS1 related extracellular matrix 1
Gene symbol	FREM1
Synonyms (NCBI Gene)	BNARC9orf143C9orf145C9orf154MOTATILRRTRIGNO2
Chromosome	9
Chromosome location	9p22.3
Summary	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61745612	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs121912609	G>A	Pathogenic, not-provided	Genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912610	C>T	Pathogenic, not-provided	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs184394424	C>G,T	Benign, uncertain-significance, likely-benign, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs281875280	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, downstream transcript variant, non coding transcript variant
rs370556388	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant
rs373880888	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant
rs769407804	AATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs774044026	G>A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1064797351	C>A,G,T	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1588131370	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant

Show/Hide all (87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017119	hsa-miR-335-5p	Microarray	18185580
MIRT644905	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT644904	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT644903	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT644902	hsa-miR-7975	HITS-CLIP	23824327
MIRT644901	hsa-miR-384	HITS-CLIP	23824327
MIRT644905	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT644904	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT644903	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT644902	hsa-miR-7975	HITS-CLIP	23824327
MIRT644901	hsa-miR-384	HITS-CLIP	23824327
MIRT1004153	hsa-miR-4490	CLIP-seq
MIRT1004154	hsa-miR-4772-3p	CLIP-seq
MIRT1004155	hsa-miR-4774-5p	CLIP-seq
MIRT1004156	hsa-miR-1179	CLIP-seq
MIRT1004157	hsa-miR-1257	CLIP-seq
MIRT1004158	hsa-miR-1914	CLIP-seq
MIRT1004159	hsa-miR-3121-3p	CLIP-seq
MIRT1004160	hsa-miR-3125	CLIP-seq
MIRT1004161	hsa-miR-338-5p	CLIP-seq
MIRT1004162	hsa-miR-3657	CLIP-seq
MIRT1004163	hsa-miR-3916	CLIP-seq
MIRT1004164	hsa-miR-3928	CLIP-seq
MIRT1004165	hsa-miR-4263	CLIP-seq
MIRT1004166	hsa-miR-4264	CLIP-seq
MIRT1004167	hsa-miR-4276	CLIP-seq
MIRT1004168	hsa-miR-4504	CLIP-seq
MIRT1004169	hsa-miR-4670-3p	CLIP-seq
MIRT1004170	hsa-miR-4720-3p	CLIP-seq
MIRT1004171	hsa-miR-4733-5p	CLIP-seq
MIRT1004172	hsa-miR-4735-5p	CLIP-seq
MIRT1004173	hsa-miR-4781-3p	CLIP-seq
MIRT1004174	hsa-miR-4797-3p	CLIP-seq
MIRT1004175	hsa-miR-4804-3p	CLIP-seq
MIRT1004176	hsa-miR-487a	CLIP-seq
MIRT1004177	hsa-miR-576-5p	CLIP-seq
MIRT1004178	hsa-miR-578	CLIP-seq
MIRT1004179	hsa-miR-643	CLIP-seq
MIRT1997638	hsa-miR-1200	CLIP-seq
MIRT1997639	hsa-miR-216a	CLIP-seq
MIRT1997640	hsa-miR-216b	CLIP-seq
MIRT1997641	hsa-miR-2861	CLIP-seq
MIRT1997642	hsa-miR-3074-5p	CLIP-seq
MIRT1997643	hsa-miR-4324	CLIP-seq
MIRT1997644	hsa-miR-4436a	CLIP-seq
MIRT1997645	hsa-miR-544b	CLIP-seq
MIRT2231322	hsa-miR-1256	CLIP-seq
MIRT1997639	hsa-miR-216a	CLIP-seq
MIRT1997640	hsa-miR-216b	CLIP-seq
MIRT2231323	hsa-miR-217	CLIP-seq
MIRT2231324	hsa-miR-2276	CLIP-seq
MIRT2231325	hsa-miR-23a	CLIP-seq
MIRT2231326	hsa-miR-23b	CLIP-seq
MIRT2231327	hsa-miR-23c	CLIP-seq
MIRT2231328	hsa-miR-3065-3p	CLIP-seq
MIRT2231329	hsa-miR-4283	CLIP-seq
MIRT2231330	hsa-miR-4418	CLIP-seq
MIRT2231331	hsa-miR-4696	CLIP-seq
MIRT1004154	hsa-miR-4772-3p	CLIP-seq
MIRT2231332	hsa-miR-4795-3p	CLIP-seq
MIRT2231333	hsa-miR-4798-5p	CLIP-seq
MIRT2231334	hsa-miR-509-3-5p	CLIP-seq
MIRT2231335	hsa-miR-509-5p	CLIP-seq
MIRT2231336	hsa-miR-587	CLIP-seq
MIRT2231337	hsa-miR-760	CLIP-seq
MIRT2449901	hsa-miR-298	CLIP-seq
MIRT2449902	hsa-miR-29a	CLIP-seq
MIRT2449903	hsa-miR-29b	CLIP-seq
MIRT2449904	hsa-miR-29c	CLIP-seq
MIRT2231328	hsa-miR-3065-3p	CLIP-seq
MIRT2449905	hsa-miR-3678-3p	CLIP-seq
MIRT2535280	hsa-miR-1260	CLIP-seq
MIRT2535281	hsa-miR-1260b	CLIP-seq
MIRT2535282	hsa-miR-188-3p	CLIP-seq
MIRT2535283	hsa-miR-3156-3p	CLIP-seq
MIRT2535284	hsa-miR-3667-3p	CLIP-seq
MIRT2535285	hsa-miR-4301	CLIP-seq
MIRT2535286	hsa-miR-4699-5p	CLIP-seq
MIRT2535287	hsa-miR-548u	CLIP-seq
MIRT2535280	hsa-miR-1260	CLIP-seq
MIRT2535281	hsa-miR-1260b	CLIP-seq
MIRT2535282	hsa-miR-188-3p	CLIP-seq
MIRT2535283	hsa-miR-3156-3p	CLIP-seq
MIRT2535284	hsa-miR-3667-3p	CLIP-seq
MIRT2535285	hsa-miR-4301	CLIP-seq
MIRT2535286	hsa-miR-4699-5p	CLIP-seq
MIRT2535287	hsa-miR-548u	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29688405
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0097094	Process	Craniofacial suture morphogenesis	IMP	21931569

MIM	HGNC	e!Ensembl
608944	23399	ENSG00000164946

Q5H8C1

Protein name

FRAS1-related extracellular matrix protein 1 (Protein QBRICK)

Protein function

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16184	Cadherin_3	292 → 391		Domain
PF16184	Cadherin_3	396 → 502		Domain
PF16184	Cadherin_3	504 → 617		Domain
PF16184	Cadherin_3	623 → 756		Domain
PF16184	Cadherin_3	760 → 869		Domain
PF16184	Cadherin_3	871 → 984		Domain
PF16184	Cadherin_3	1009 → 1128		Domain
PF16184	Cadherin_3	1131 → 1256		Domain
PF16184	Cadherin_3	1258 → 1374		Domain
PF16184	Cadherin_3	1377 → 1487		Domain
PF16184	Cadherin_3	1489 → 1598		Domain
PF16184	Cadherin_3	1611 → 1726		Domain
PF03160	Calx-beta	1731 → 1830	Calx-beta domain	Domain
PF00059	Lectin_C	2071 → 2177	Lectin C-type domain	Domain

Sequence

MNSLSWGAANAVLLLLLLAWASPTFISINRGVRVMKGHSAFLSGDDLKFAIPKEKDACKV
EVVMNEPITQRVGKLTPQVFDCHFLPNEVKYVHNGCPILDEDTVKLRLYRFTERDTFIET
FILWVYLLEPDCNIIHMSNNVLEVPEFNGLSQAIDKNLLRFDYDRMASLECTVSLDTART
RLPAHGQMVLGEPRPEEPRGDQPHSFFPESQLRAKLKCPGGSCTPGLKKIGSLKVSCEEF
LLMGLRYQHLDPPSPNIDYISIQLDLTDTRSKIVYKSESAWLPVYIRAGIPNQIPKAAFM
AVFILEVDQFILTSLTTSVLDCEEDETPKPLLVFNITKAPLQGYVTHLLDHTRPISSFTW
KDLSDMQIAYQPPNSSHSERRHDEVELEVYDFFFERSAPMTVHISIRTADTNAPRVSWNT
GLSLLEGQSRAITWEQFQVVDNDDIGAVRLVTVGGLQHGWLTLRGGKGFLFTVADLQAGV
VRYHHDDSDSTKDFVVFRIFDGHHSIRHKFPINVLPKDDSPPFLITNVVIELEEGQTILI
QGSMLRASDVDASDDYIFFNITKPPQAGEIMKKPGPGLIGYPVHGFLQRDLFNGIIYYRH
FGGEIFEDSFQFVLWDSHEPPNLSVPQVATIHITPVDDQLPKEAPGVSRHLVVKETEVAY
ITKKQLHFIDSESYDRELVYTITTPPFFSFSHRHLDAGKLFMVDSIPKVVKNPTALELRS
FTQHAVNYMKVAYMPPMQDIGPHCRDVQFTFSVSNQHGGTLHGICFNITILPVDNQVPEA
FTNPLKVTEGGQSIISTEHILISDADTKLDNIDLSLRELPLHGRVELNGFPLNSGGTFSW
GDLHTLKVRYQHDGTEVLQDDLLLEVTDGTNSAEFVLHVEVFPVNDEPPVLKADLMPVMN
CSEGGEVVITSEYIFATDVDSDNLKLMFVIAREPQHGVVRRAGVTVDQFSQRDVISEAVT
YKHTGGEIGLMPCFDTITLVVSDGEAGPFVNGCCYNGPNPSVPLHASFPVYDLNITVYPV
DNQPPSIAIGPVFVVDEGCSTALTVNHLSATDPDTAADDLEFVLVSPPQFGYLENILPSV
GFEKSNIGISIDSFQWKDMNAFHINYVQSRHLRIEPTADQFTVYVTDGKHHSLEIPFSII
INPTNDEAPDFVVQNITVCEGQMKELDSSIISAVDLDIPQDALLFSITQKPRHGLLIDRG
FSKDFSENKQPANPHQKHAPVHSFSMELLKTGMRLTYMHDDSESLADDFTIQLSDGKHKI
LKTISVEVIPVNDEKPMLSKKAEIAMNMGETRIISSAILSAIDEDSPREKIYYVFERLPQ
NGQLQLKIGRDWVPLSPGMKCTQEEVDLNLLRYTHTGAMDSQNQDSFTFYLWDGNNRSPA
LDCQITIKDMEKGDIVILTKPLVVSKGDRGFLTTTTLLAVDGTDKPEELLYVITSPPRYG
QIEYVHYPGVPITNFSQMDVVGQTVCYVHKSKVTVSSDRFRFIISNGLRTEHGVFEITLE
TVDRALPVVTRNKGLRLAQGAVGLLSPDLLQLTDPDTPAENLTFLLVQLPQHGQLYLWGT
GLLQHNFTQQDVDSKNVAYRHSGGDSQTDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQV
DQLDKTAPRITLLHSPSQVGLLKNGCYGIYITSRVLKASDPDTEDDQIIFKILQGPKHGH
LENTTTGEFIHEKFSQKDLNSKTILYIINPSLEVNSDTVEFQIMDPTGNSATPQILELKW
SHIEWSQTEYEVCENVGLLPLEIIRRGYSMDSAFVGIKVNQVSAAVGKDFTVIPSKLIQF
DPGMSTKMWNIAITYDGLEEDDEVFEVILNSPVNAVLGTKTKAAVKILDSKGGQCHPSYS
SNQSKHSTWEKGIWHLLPPGSSSSTTSGSFHLERRPLPSSMQLAVIRGDTLRGFDSTDLS
QRKLRTRGNGKTVRPSSVYRNGTDIIYNYHGIVSLKLEDDSFPTHKRKAKVSIISQPQKT
IKVAELPQADKVESTTDSHFPRQDQLPSFPKNCTLELKGLFHFEEGIQKLYQCNGIAWKA
WSPQTKDVEDKSCPAGWHQHSGYCHILITEQKGTWNAAAQACREQYLGNLVTVFSRQHMR
WLWDIGGRKSFWIGLNDQVHAGHWEWIGGEPVAFTNGRRGPSQRSKLGKSCVLVQRQGKW
QTKDCRRAKPHNYVCSRKL

Sequence length

2179

Interactions

View interactions

	KEGG
	ECM-receptor interaction

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BNAR syndrome	Likely pathogenic; Pathogenic	rs990411562, rs1588131370, rs200778244, rs2538704291, rs1464587064, rs2539492420, rs1380643285, rs2537702433, rs769407804, rs1064797351	RCV001836680 RCV000002065 RCV005045326 RCV003389093 RCV003389094 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FREM1-related disorder	Likely pathogenic	rs2539492420	RCV003393201	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculotrichoanal syndrome	Pathogenic; Likely pathogenic	rs1588131370, rs200778244, rs2539492420, rs1380643285, rs2537536904, rs769407804, rs281875281, rs1064797351, rs773469926, rs281875282	RCV004760316 RCV005045326 RCV005863865 RCV005047795 RCV004527545 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trigonocephaly 2	Likely pathogenic; Pathogenic	rs200778244, rs1380643285, rs769407804, rs1064797351	RCV005045326 RCV005047795 RCV002482903 RCV005044734	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (38)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIFID NOSE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOSYNOSTOSES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERFRONTAL CRANIOFACIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rieger anomaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGONOCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (65)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrocephaly	Acrocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bifid nose	Bifid nose	Pubtator	38097983	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid Nose With Or Without Anorectal And Renal Anomalies	GENOMICS_ENGLAND_DG	11332973, 24700879		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid Nose With Or Without Anorectal And Renal Anomalies	UNIPROT_DG	19732862		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid Nose With Or Without Anorectal And Renal Anomalies	ORPHANET_DG	19732862, 23401257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid Nose With Or Without Anorectal And Renal Anomalies	BEFREE	23221805, 23401257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid Nose With Or Without Anorectal And Renal Anomalies	CTD_human_DG	23221805		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid nose	Pubtator	23401257	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid Nose With Or Without Anorectal And Renal Anomalies	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BNAR syndrome	BNAR Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BNAR syndrome	BNAR Syndrome	BEFREE	21507892, 23221805, 23401257		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachycephaly	Brachycephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33058542	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37178414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	24700879		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	29197384	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35149544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft eyelid	Cleft eyelid	Pubtator	23401257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	21182980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	21182980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	CTD_human_DG	23221805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	23221805, 29618029		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	23221805, 26382659		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	23221805, 26382659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	23221805, 26382659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptophthalmos	Cryptophthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptophthalmos syndrome	Fraser syndrome	BEFREE	21182980, 21507892, 23401257, 29688405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptophthalmos Unilateral or Bilateral Isolated	Cryptophthalmos syndrome	Pubtator	37353237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fraser Syndrome	Fraser syndrome	Pubtator	23401257, 29197384, 37353237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34338422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Interfrontal craniofaciosynostosis	Interfrontal Craniofaciosynostosis	BEFREE	21931569		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marles Greenberg Persaud syndrome	Marles Greenberg Persaud Syndrome	GENOMICS_ENGLAND_DG	11332973, 21507892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marles Greenberg Persaud syndrome	Marles Greenberg Persaud Syndrome	CLINVAR_DG	17352387, 21507892, 23112756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marles Greenberg Persaud syndrome	Marles Greenberg Persaud Syndrome	BEFREE	21507892, 22690109, 23221805, 23401257, 28111185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marles Greenberg Persaud syndrome	Marles Greenberg Persaud Syndrome	UNIPROT_DG	21507892, 28111185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marles Greenberg Persaud syndrome	Marles Greenberg Persaud Syndrome	CTD_human_DG	23221805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculotrichoanal syndrome	Oculotrichoanal Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofacial Cleft 1	Orofacial cleft	Pubtator	29855589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	31678370		★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	21182980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal agenesis, unilateral	Renal Agenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	ORPHANET_DG	21931569		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigonocephaly	Trigonocephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigonocephaly	Trigonocephaly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigonocephaly	Trigonocephaly	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGONOCEPHALY 2	Trigonocephaly	GENOMICS_ENGLAND_DG	11332973		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRIGONOCEPHALY 2	Trigonocephaly	UNIPROT_DG	21931569		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRIGONOCEPHALY 2	Trigonocephaly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33058542	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	ORPHANET_DG	20807610, 24370773		★★★★★ ★☆☆☆☆ Found in Text Mining only

FREM1 (FRAS1 related extracellular matrix 1)