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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2273
Gene name	Four and a half LIM domains 1
Gene symbol	FHL1
Synonyms (NCBI Gene)	FCMSUFHL-1FHL1AFHL1BFLH1AKYOTRBMX1ARBMX1BSLIMSLIM-1SLIM1SLIMMERXMPMA
Chromosome	X
Chromosome location	Xq26.3
Summary	This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of thes

Show/Hide all (34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs122458140	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122458141	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs122458142	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122458143	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122458144	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs122458145	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122459146	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122459147	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs122459148	T>G	Pathogenic	Terminator codon variant, 3 prime UTR variant, non coding transcript variant, stop lost
rs122459149	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs267606811	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs267606812	A>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267606813	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs367592190	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs747594885	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs768142579	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs786200914	G>A	Pathogenic	Intron variant, splice donor variant
rs869025431	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886044238	C>A	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060502840	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064795702	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1556638935	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556639151	AGCTT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556639352	A>G	Pathogenic	Intron variant, splice acceptor variant
rs1556639379	->G	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1569530437	->ACCG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569530588	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1603271580	->TCA	Pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant
rs1603271659	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603272191	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1603272223	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1603272263	->TA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1603273685	->GTTT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant
rs1603273697	->T	Pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, frameshift variant

155

Show/Hide all (155)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019004	hsa-miR-335-5p	Microarray	18185580
MIRT734156	hsa-miR-664a-3p	Luciferase reporter assayWestern blottingqRT-PCRELISA	31632001
MIRT735992	hsa-miR-96-5p	Luciferase reporter assayqRT-PCR	33322515
MIRT736056	hsa-miR-138-5p	Luciferase reporter assayqRT-PCR	33148375
MIRT735992	hsa-miR-96-5p	Luciferase reporter assayWestern blottingqRT-PCR	36017148
MIRT996533	hsa-miR-1827	CLIP-seq
MIRT996534	hsa-miR-219-1-3p	CLIP-seq
MIRT996535	hsa-miR-3174	CLIP-seq
MIRT996536	hsa-miR-4468	CLIP-seq
MIRT996537	hsa-miR-4519	CLIP-seq
MIRT996538	hsa-miR-4649-3p	CLIP-seq
MIRT996539	hsa-miR-4712-3p	CLIP-seq
MIRT996540	hsa-miR-4792	CLIP-seq
MIRT996541	hsa-miR-562	CLIP-seq
MIRT996542	hsa-miR-571	CLIP-seq
MIRT996543	hsa-miR-105	CLIP-seq
MIRT996544	hsa-miR-2053	CLIP-seq
MIRT996545	hsa-miR-2277-3p	CLIP-seq
MIRT996546	hsa-miR-3671	CLIP-seq
MIRT996547	hsa-miR-4716-5p	CLIP-seq
MIRT996548	hsa-miR-4775	CLIP-seq
MIRT996549	hsa-miR-566	CLIP-seq
MIRT996550	hsa-miR-569	CLIP-seq
MIRT996551	hsa-miR-590-3p	CLIP-seq
MIRT996552	hsa-miR-607	CLIP-seq
MIRT1548737	hsa-miR-499-3p	CLIP-seq
MIRT1548738	hsa-miR-499a-3p	CLIP-seq
MIRT2229497	hsa-miR-3607-3p	CLIP-seq
MIRT2229498	hsa-miR-4700-3p	CLIP-seq
MIRT2229499	hsa-miR-5095	CLIP-seq
MIRT2428940	hsa-miR-3915	CLIP-seq
MIRT2428941	hsa-miR-518d-5p	CLIP-seq
MIRT2428942	hsa-miR-519b-5p	CLIP-seq
MIRT2428943	hsa-miR-519c-5p	CLIP-seq
MIRT2428944	hsa-miR-520c-5p	CLIP-seq
MIRT2428945	hsa-miR-526a	CLIP-seq
MIRT2428946	hsa-miR-767-3p	CLIP-seq
MIRT2533357	hsa-miR-1205	CLIP-seq
MIRT2533358	hsa-miR-1265	CLIP-seq
MIRT2533359	hsa-miR-1266	CLIP-seq
MIRT2533360	hsa-miR-1286	CLIP-seq
MIRT996533	hsa-miR-1827	CLIP-seq
MIRT996545	hsa-miR-2277-3p	CLIP-seq
MIRT2533361	hsa-miR-2392	CLIP-seq
MIRT2533362	hsa-miR-3064-3p	CLIP-seq
MIRT2533363	hsa-miR-3065-3p	CLIP-seq
MIRT2533364	hsa-miR-3145-3p	CLIP-seq
MIRT2533365	hsa-miR-3153	CLIP-seq
MIRT2533366	hsa-miR-3155	CLIP-seq
MIRT2533367	hsa-miR-3155b	CLIP-seq
MIRT2533368	hsa-miR-3184	CLIP-seq
MIRT2533369	hsa-miR-3200-5p	CLIP-seq
MIRT2533370	hsa-miR-3622a-3p	CLIP-seq
MIRT2533371	hsa-miR-3622b-3p	CLIP-seq
MIRT2533372	hsa-miR-3664-3p	CLIP-seq
MIRT2533373	hsa-miR-3668	CLIP-seq
MIRT2533374	hsa-miR-3682-3p	CLIP-seq
MIRT2533375	hsa-miR-3682-5p	CLIP-seq
MIRT2533376	hsa-miR-369-3p	CLIP-seq
MIRT2533377	hsa-miR-374a	CLIP-seq
MIRT2533378	hsa-miR-374b	CLIP-seq
MIRT2533379	hsa-miR-3914	CLIP-seq
MIRT2533380	hsa-miR-3924	CLIP-seq
MIRT2533381	hsa-miR-423-5p	CLIP-seq
MIRT2533382	hsa-miR-4291	CLIP-seq
MIRT2533383	hsa-miR-4418	CLIP-seq
MIRT2533384	hsa-miR-4438	CLIP-seq
MIRT2533385	hsa-miR-4489	CLIP-seq
MIRT2533386	hsa-miR-450a	CLIP-seq
MIRT2533387	hsa-miR-4518	CLIP-seq
MIRT2533388	hsa-miR-4528	CLIP-seq
MIRT996538	hsa-miR-4649-3p	CLIP-seq
MIRT2533389	hsa-miR-4666-5p	CLIP-seq
MIRT2533390	hsa-miR-4684-5p	CLIP-seq
MIRT2533391	hsa-miR-4711-5p	CLIP-seq
MIRT2533392	hsa-miR-4722-5p	CLIP-seq
MIRT2533393	hsa-miR-483-3p	CLIP-seq
MIRT2533394	hsa-miR-484	CLIP-seq
MIRT2533395	hsa-miR-494	CLIP-seq
MIRT2533396	hsa-miR-509-3-5p	CLIP-seq
MIRT2533397	hsa-miR-509-5p	CLIP-seq
MIRT2428941	hsa-miR-518d-5p	CLIP-seq
MIRT2428942	hsa-miR-519b-5p	CLIP-seq
MIRT2428943	hsa-miR-519c-5p	CLIP-seq
MIRT2428944	hsa-miR-520c-5p	CLIP-seq
MIRT2428945	hsa-miR-526a	CLIP-seq
MIRT2533398	hsa-miR-548a-5p	CLIP-seq
MIRT2533399	hsa-miR-548ab	CLIP-seq
MIRT2533400	hsa-miR-548ak	CLIP-seq
MIRT2533401	hsa-miR-548b-5p	CLIP-seq
MIRT2533402	hsa-miR-548c-5p	CLIP-seq
MIRT2533403	hsa-miR-548d-5p	CLIP-seq
MIRT2533404	hsa-miR-548h	CLIP-seq
MIRT2533405	hsa-miR-548i	CLIP-seq
MIRT2533406	hsa-miR-548j	CLIP-seq
MIRT2533407	hsa-miR-548k	CLIP-seq
MIRT2533408	hsa-miR-548l	CLIP-seq
MIRT2533409	hsa-miR-548w	CLIP-seq
MIRT2533410	hsa-miR-548y	CLIP-seq
MIRT2533411	hsa-miR-559	CLIP-seq
MIRT996549	hsa-miR-566	CLIP-seq
MIRT2533412	hsa-miR-570	CLIP-seq
MIRT2533413	hsa-miR-574-3p	CLIP-seq
MIRT2533414	hsa-miR-602	CLIP-seq
MIRT2533415	hsa-miR-616	CLIP-seq
MIRT2428946	hsa-miR-767-3p	CLIP-seq
MIRT2533416	hsa-miR-873	CLIP-seq
MIRT2533417	hsa-miR-942	CLIP-seq
MIRT2533359	hsa-miR-1266	CLIP-seq
MIRT996533	hsa-miR-1827	CLIP-seq
MIRT996545	hsa-miR-2277-3p	CLIP-seq
MIRT2533362	hsa-miR-3064-3p	CLIP-seq
MIRT2533366	hsa-miR-3155	CLIP-seq
MIRT2533367	hsa-miR-3155b	CLIP-seq
MIRT2533370	hsa-miR-3622a-3p	CLIP-seq
MIRT2533371	hsa-miR-3622b-3p	CLIP-seq
MIRT2533372	hsa-miR-3664-3p	CLIP-seq
MIRT2533373	hsa-miR-3668	CLIP-seq
MIRT2533374	hsa-miR-3682-3p	CLIP-seq
MIRT2533379	hsa-miR-3914	CLIP-seq
MIRT2533380	hsa-miR-3924	CLIP-seq
MIRT2533384	hsa-miR-4438	CLIP-seq
MIRT2533386	hsa-miR-450a	CLIP-seq
MIRT2533387	hsa-miR-4518	CLIP-seq
MIRT2533389	hsa-miR-4666-5p	CLIP-seq
MIRT2533390	hsa-miR-4684-5p	CLIP-seq
MIRT2533391	hsa-miR-4711-5p	CLIP-seq
MIRT2533393	hsa-miR-483-3p	CLIP-seq
MIRT2533394	hsa-miR-484	CLIP-seq
MIRT2533395	hsa-miR-494	CLIP-seq
MIRT2428941	hsa-miR-518d-5p	CLIP-seq
MIRT2428942	hsa-miR-519b-5p	CLIP-seq
MIRT2428943	hsa-miR-519c-5p	CLIP-seq
MIRT2428944	hsa-miR-520c-5p	CLIP-seq
MIRT2428945	hsa-miR-526a	CLIP-seq
MIRT2533398	hsa-miR-548a-5p	CLIP-seq
MIRT2533399	hsa-miR-548ab	CLIP-seq
MIRT2533400	hsa-miR-548ak	CLIP-seq
MIRT2533401	hsa-miR-548b-5p	CLIP-seq
MIRT2533402	hsa-miR-548c-5p	CLIP-seq
MIRT2533403	hsa-miR-548d-5p	CLIP-seq
MIRT2533404	hsa-miR-548h	CLIP-seq
MIRT2533405	hsa-miR-548i	CLIP-seq
MIRT2533406	hsa-miR-548j	CLIP-seq
MIRT2533407	hsa-miR-548k	CLIP-seq
MIRT2533408	hsa-miR-548l	CLIP-seq
MIRT2533409	hsa-miR-548w	CLIP-seq
MIRT2533410	hsa-miR-548y	CLIP-seq
MIRT2533411	hsa-miR-559	CLIP-seq
MIRT996549	hsa-miR-566	CLIP-seq
MIRT2533412	hsa-miR-570	CLIP-seq
MIRT2533413	hsa-miR-574-3p	CLIP-seq
MIRT2533415	hsa-miR-616	CLIP-seq
MIRT2428946	hsa-miR-767-3p	CLIP-seq
MIRT2533417	hsa-miR-942	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
HOXD13	Unknown	18758158
TLX1	Unknown	18073142

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18482256, 19401155, 20969868, 21900206, 23414517, 28671123, 35271311
GO:0005634	Component	Nucleus	IDA	21702045
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	21702045
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	18281375
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	NAS	7626119
GO:0008270	Function	Zinc ion binding	IEA
GO:0009887	Process	Animal organ morphogenesis	NAS	7626119
GO:0010972	Process	Negative regulation of G2/M transition of mitotic cell cycle	IDA	21702045
GO:0030154	Process	Cell differentiation	IEA
GO:0030308	Process	Negative regulation of cell growth	IDA	21702045
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IPI	18281375
GO:0046872	Function	Metal ion binding	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IDA	18281375
GO:0099103	Function	Channel activator activity	IDA	18281375
GO:0099104	Function	Potassium channel activator activity	IDA	18281375
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	18281375
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IDA	21702045

MIM	HGNC	e!Ensembl
300163	3702	ENSG00000022267

Q13642

Protein name

Four and a half LIM domains protein 1 (FHL-1) (Skeletal muscle LIM-protein 1) (SLIM) (SLIM-1)

Protein function

May have an involvement in muscle development or hypertrophy.

PDB

1X63 , 2CUP , 2CUR , 2EGQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00412	LIM	40 → 97	LIM domain	Domain
PF00412	LIM	101 → 158	LIM domain	Domain
PF00412	LIM	162 → 216	LIM domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and

Sequence

MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRF
WHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGT
VWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQP
WHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP
VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVK
APVWWPMKDNPGTTTASTAKNAP

Sequence length

323

Interactions

View interactions

	KEGG
	JAK-STAT signaling pathway Cytoskeleton in muscle cells

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 (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs122458144	RCV001813974	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asymmetric septal hypertrophy	Likely pathogenic	rs2073915687	RCV001251030	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic	rs2148373432, rs2521266207, rs2521287361, rs2521264630, rs1569530588	RCV002442948 RCV003288483 RCV003341697 RCV004511012 RCV005338325	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Centronuclear myopathy	Pathogenic	rs122458143	RCV004585997	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy 6	Pathogenic	rs122459148, rs122459149, rs1603273697	RCV000012312 RCV000012313 RCV000012314	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemophagocytic lymphohistiocytosis type 1	Likely pathogenic; Pathogenic	rs1603272191	RCV003741285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, reducing body, X-linked, childhood-onset	Pathogenic; Likely pathogenic	rs1191211949, rs2148373642, rs122458144, rs122458145, rs122459147, rs2521286102, rs1603271659	RCV005050370 RCV005410186 RCV000012308 RCV000012309 RCV000012311 RCV000012319 RCV000850501 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy, reducing body, X-linked, early-onset, severe	Pathogenic; Likely pathogenic	rs1191211949, rs2148373642, rs122458142, rs122458143, rs122459146, rs267606812, rs267606813, rs2521300616, rs122458145, rs1603271659	RCV005050370 RCV005410186 RCV000012306 RCV000012307 RCV000012310 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2148375467, rs122458142, rs1556639352	RCV005925563 RCV005887449 RCV005900991	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2521337446, rs122458142, rs886044238, rs1556639352, rs2073866799	RCV005930299 RCV005887450 RCV005895878 RCV005900992 RCV005912426	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uruguay Faciocardiomusculoskeletal syndrome	Pathogenic; Likely pathogenic	rs1191211949, rs1556639352, rs1603271659	RCV005050370 RCV000515100 RCV000850501	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked myopathy with postural muscle atrophy	Likely pathogenic; Pathogenic	rs2148373814, rs777580253, rs1191211949, rs2148378774, rs2148373642, rs2148371451, rs1603272191, rs2148375467, rs786200914, rs122458144, rs267606813, rs2148383945, rs2148373432, rs2148375860, rs2148378462 View all (46 more)	RCV001379664 RCV001383795 RCV001387580 RCV001542505 RCV005410186 View all (59 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked scapuloperoneal muscular dystrophy	Pathogenic; Likely pathogenic	rs1191211949, rs2148373642, rs122458140, rs1603271580, rs1603271659	RCV005050370 RCV005410186 RCV000012303 RCV000022828 RCV000850501	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

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.
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FHL1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
REDUCING BODY MYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
REDUCING-BODY MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked cardiomyopathies	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY	—	CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked myopathies	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FHL1 (four and a half LIM domains 1)