FHL1 (four and a half LIM domains 1)

Gene

• Entrez ID: 2273
• Gene name: Four and a half LIM domains 1
• Gene symbol: FHL1
• Synonyms (NCBI Gene): FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA
• Disease Acronyms (UniProt): FCMSU, RBMX1A, RBMX1B, XMPMA
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019004	hsa-miR-335-5p	Microarray	18185580
MIRT734156	hsa-miR-664a-3p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	31632001
MIRT735992	hsa-miR-96-5p	Luciferase reporter assay, qRT-PCR	33322515
MIRT736056	hsa-miR-138-5p	Luciferase reporter assay, qRT-PCR	33148375
MIRT735992	hsa-miR-96-5p	Luciferase reporter assay, Western blotting, qRT-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

Transcription factors

Transcription factor	Regulation	Reference
HOXD13	Unknown	18758158
TLX1	Unknown	18073142

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003254	Process	Regulation of membrane depolarization	IDA	18281375
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	18482256, 19401155, 28671123
GO:0005634	Component	Nucleus	IDA	21702045
GO:0005737	Component	Cytoplasm	IDA	21702045
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	18281375
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007517	Process	Muscle organ development	NAS	7626119
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:0043268	Process	Positive regulation of potassium ion transport	IDA	18281375
GO:0044325	Function	Ion channel binding	IBA	21873635
GO:0044325	Function	Ion channel binding	IPI	18281375
GO:0046872	Function	Metal ion binding	IEA
GO:1901016	Process	Regulation of potassium ion transmembrane transporter activity	IDA	18281375
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IDA	21702045

Other IDs

• MIM: 300163
• HGNC: 3702
• e!Ensembl: ENSG00000022267

Protein

• UniProt ID: 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

Pathways

KEGG:

JAK-STAT signaling pathway
Cytoskeleton in muscle cells

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrioventricular block	Atrioventricular Block	rs766840243, rs763809932
Cardiomyopathy	Cardiomyopathies, Cardiomyopathy, Hypertrophic, Familial	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Emery-dreifuss muscular dystrophy	Muscular Dystrophy, Emery-Dreifuss	rs606231134, rs122459148, rs122459149, rs1603273697, rs61046466, rs58932704, rs57520892, rs60934003, rs56771886, rs61672878, rs60864230, rs58048078, rs56699480, rs60458016, rs60682848, rs267607545, rs57983345, rs57629361, rs267607539, rs61444459, rs267607540, rs57207746, rs59332535, rs727503036, rs886043109, rs1553265761, rs1553265999, rs1554451078, rs1557182301, rs1586909309, rs1588855714
Emery-dreifuss muscular dystrophy, x-linked	X-Linked Emery-Dreifuss Muscular Dystrophy, Emery-Dreifuss Muscular Dystrophy 6, X-Linked	rs1422834817, rs267606782, rs2147483647, rs132630262, rs104894805, rs104894806, rs398123158, rs727503036, rs730880352, rs794729010, rs876661345, rs886041854, rs886044771, rs782452523, rs886044901, rs1060502612, rs1557182286, rs1557182661, rs1557182670, rs1557182676, rs1557182692, rs1557182214, rs1557182560, rs782011714, rs1557182611, rs1557182364, rs1557182301, rs1557182654, rs1569552106, rs1569552080, rs1569552076, rs1569552079, rs2067873691, rs2067883871, rs727504901
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Limb-girdle muscular dystrophy	Muscular Dystrophies, Limb-Girdle	rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782, rs119462982, rs193919335, rs28940869, rs193919336, rs28937900, rs587777823, rs104894682, rs28937901, rs28937903, rs28937905, rs104894689, rs104894691, rs104894692, rs121908110, rs104894655, rs786205076, rs121908955, rs786200896, rs786205082, rs121908956, rs745891180, rs121908957, rs28937581, rs121908958, rs121908959, rs121908960, rs121908961, rs786205083, rs121908963, rs786200897, rs786200898, rs727503909, rs1369919728, rs121909295, rs121909296, rs121909297, rs267607045, rs28936383, rs104893868, rs751427729, rs1578125670, rs104893869, rs104893870, rs104893871, rs137852621, rs137852622, rs28933693, rs397514451, rs137852623, rs281864927, rs281864928, rs121913572, rs80338802, rs121434544, rs121434545, rs121434546, rs121434547, rs1555423217, rs267606703, rs80338803, rs80338800, rs121434548, rs786205084, rs80338801, rs864309673, rs387907046, rs387907047, rs149278319, rs387907150, rs387907298, rs202247791, rs202247790, rs281864930, rs281865464, rs137854528, rs397514501, rs397515400, rs150518260, rs397517547, rs397517643, rs397517921, rs386834012, rs138642840, rs386834019, rs397509417, rs397509418, rs397509422, rs397509424, rs397509425, rs397509426, rs202160208, rs142336618, rs199922550, rs371675217, rs398123098, rs201736037, rs398123143, rs201892814, rs398123146, rs149095128, rs398123149, rs398123150, rs398123262, rs398123373, rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs140108514, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs398123794, rs398123796, rs398123797, rs398123799, rs373585652, rs398123800, rs398123802, rs398123807, rs201869739, rs398124395, rs199501657, rs398124625, rs587780289, rs587780290, rs587780423, rs587777423, rs587777430, rs587777431, rs137854526, rs137854527, rs45495192, rs587777669, rs587777797, rs587777798, rs587784483, rs727504535, rs727503422, rs727503839, rs727503911, rs141656719, rs143570936, rs727503837, rs727503910, rs727503915, rs757888349, rs768814872, rs786204786, rs200923373, rs796065318, rs794726871, rs796065319, rs557164942, rs794727158, rs762471207, rs797044667, rs794727318, rs201049092, rs794727350, rs778768583, rs756328339, rs794727544, rs370874727, rs794727636, rs201725369, rs766016391, rs794727697, rs794727745, rs760608643, rs794727851, rs141497053, rs794729178, rs797045106, rs797045427, rs766341386, rs779987458, rs1801505, rs376107921, rs863224933, rs863225020, rs863225019, rs746873768, rs369607332, rs863225021, rs372221490, rs566415362, rs774048743, rs863224958, rs863224963, rs863224964, rs863224965, rs863224966, rs374665929, rs863224956, rs863224957, rs863224959, rs863224960, rs863224961, rs863224962, rs758647756, rs869025337, rs869025562, rs779129892, rs869312122, rs543860009, rs150877497, rs878854367, rs878854364, rs869320700, rs869320701, rs759982570, rs869320702, rs142908436, rs875989850, rs875989851, rs1553775212, rs875989949, rs876657664, rs878854324, rs879255612, rs746315830, rs886039573, rs747349942, rs886039597, rs886041052, rs886041053, rs199870606, rs761211705, rs776043976, rs886041335, rs886041387, rs1555421871, rs886042091, rs886042093, rs547818652, rs886042108, rs886042110, rs749099493, rs200646556, rs80338804, rs761897806, rs149914792, rs543163491, rs886042379, rs886042389, rs868791726, rs369552114, rs886042418, rs886042439, rs886042440, rs528417986, rs764459544, rs151317754, rs886042478, rs886042503, rs886042504, rs886042506, rs139836397, rs770617208, rs886042540, rs886042546, rs886042557, rs886042573, rs886042578, rs886042584, rs768090444, rs886042617, rs753861836, rs886042641, rs200502077, rs886042749, rs886042757, rs777323132, rs753360208, rs886042827, rs202218890, rs752492870, rs773827877, rs886042895, rs138945081, rs149827237, rs886042951, rs776059672, rs886042964, rs780264754, rs779701414, rs769721856, rs886043031, rs142073798, rs770894443, rs777483913, rs760205277, rs368970223, rs886043221, rs281865480, rs372210292, rs746243052, rs886043392, rs746935735, rs886043432, rs778065845, rs781013226, rs756339648, rs886043706, rs886043752, rs758775001, rs886043860, rs773001194, rs747557404, rs886043900, rs886043962, rs886043964, rs886043966, rs886044004, rs747719953, rs886044052, rs775130589, rs886044083, rs199806879, rs886044183, rs766433603, rs147764579, rs781760379, rs757481230, rs886044377, rs886044379, rs886044381, rs886044411, rs747289205, rs886044422, rs752848213, rs886044475, rs200206447, rs753650776, rs886044527, rs761257703, rs886044688, rs1057516051, rs1057516515, rs780596734, rs1057517051, rs1057516360, rs747809412, rs1057517064, rs1057517205, rs773884973, rs1057517107, rs1057516300, rs1057516650, rs1057517142, rs763986788, rs1057516242, rs1057516888, rs1057516664, rs1057517377, rs1057516548, rs1057516729, rs550944082, rs1057519132, rs150331292, rs1057521141, rs754415994, rs1057524468, rs375159973, rs1554094947, rs1064794020, rs1064797040, rs1064793620, rs144356125, rs1085307995, rs1085307534, rs1131692158, rs750195040, rs1555568335, rs1555568318, rs1555420475, rs199954546, rs1555606976, rs1403946332, rs1553482872, rs1553543506, rs1554269966, rs1555420075, rs769688710, rs778568339, rs769785004, rs1554009901, rs1186858080, rs140403642, rs1553940687, rs775458201, rs751427686, rs1553940274, rs1380525804, rs1168346560, rs1555248000, rs200379491, rs752640127, rs200166783, rs1327595249, rs1290836394, rs753811189, rs1023002894, rs1553420848, rs1553555585, rs369784333, rs901764287, rs1285082850, rs766156798, rs1555568518, rs1573744795, rs1555568264, rs766334893, rs1555423060, rs138254713, rs1342189589, rs1555421523, rs747685252, rs1555421524, rs1555420462, rs142004418, rs1247934219, rs756118312, rs1553556116, rs1553522133, rs555514820, rs147774793, rs1553416025, rs776472879, rs1274808359, rs1555420634, rs112500642, rs188150039, rs1446214240, rs1366387924, rs1220674950, rs1009131948, rs1250461669, rs1555606959, rs201518227, rs1553521119, rs1013015106, rs773386253, rs1554007706, rs1553939675, rs1448040082, rs561719071, rs745967703, rs1275289254, rs1555420642, rs1301397800, rs770905160, rs200916654, rs758058910, rs773736505, rs1554930314, rs1259378167, rs1553495983, rs1278864604, rs1553521017, rs1553522730, rs779969348, rs139258703, rs1553376558, rs1553381945, rs1474151297, rs766891289, rs1553531682, rs766936914, rs199543257, rs1420930684, rs1553376691, rs757917335, rs1553408378, rs751473506, rs1451269647, rs1459713589, rs1553522104, rs1553522751, rs768546511, rs1553535902, rs1236367931, rs1553541329, rs1380642629, rs778092738, rs1213965862, rs1553412826, rs1553422709, rs1553422723, rs1553518087, rs1553536007, rs1553537332, rs1553542142, rs750028300, rs763674597, rs1553377764, rs1553414413, rs1553415211, rs909564120, rs771257070, rs1264362642, rs1267810339, rs1553940262, rs1553940079, rs762652676, rs1553940661, rs1553940663, rs1553940957, rs762114570, rs1555234810, rs1555247973, rs780348174, rs1555234799, rs913248720, rs1555248289, rs1199421806, rs1555240119, rs758078849, rs1555245353, rs1555420468, rs1555420507, rs1345121557, rs1555421263, rs1555422293, rs1555422298, rs1555422832, rs1555423021, rs1555417271, rs1555420302, rs750083132, rs1555420765, rs746075428, rs1555422954, rs760919949, rs764086484, rs1555420647, rs1555421271, rs1555421847, rs1334369407, rs1555423015, rs768374736, rs1555423046, rs1555417257, rs1555417321, rs1555420083, rs1459288402, rs1555421280, rs1555421293, rs1555421842, rs1555421854, rs1293496023, rs767739787, rs1555422839, rs1555422847, rs1555422856, rs777636094, rs1555423027, rs766917640, rs1555423146, rs1447774727, rs1555423222, rs1412537279, rs1555568775, rs1555569339, rs903823830, rs1555568965, rs1555569342, rs763372958, rs1555738245, rs1555738502, rs1555738568, rs1555738651, rs752731569, rs1555738764, rs765885747, rs1555738149, rs1555738883, rs1555738201, rs1555738753, rs587780334, rs1555739041, rs748087383, rs768606230, rs1555568325, rs1555568396, rs1555568876, rs770711331, rs1191737604, rs1555738823, rs1173430388, rs1555738204, rs1555738311, rs1555738456, rs1555738686, rs1555738675, rs1483781400, rs754403441, rs1555739280, rs1555739333, rs1553416039, rs1559697515, rs1554094927, rs1566965806, rs754761503, rs1162942997, rs1567739339, rs1566975163, rs766400853, rs1562273395, rs1562497781, rs1562200866, rs1559446852, rs1563083759, rs1559177278, rs534484592, rs1567739228, rs1598277713, rs1566983844, rs769873428, rs1564930625, rs1567739735, rs1567741398, rs1432706111, rs756689063, rs1558708492, rs1566011034, rs1387802849, rs760915007, rs1559267059, rs767120669, rs1180079162, rs762946781, rs1566984441, rs1559053603, rs1558771348, rs1560034617, rs569565392, rs1483190866, rs750976634, rs750443041, rs1456182703, rs1559109621, rs1562137622, rs1562133291, rs796206315, rs1332603843, rs763586263, rs191912891, rs761935462, rs1558783870, rs777924443, rs1558613592, rs1583845651, rs1574340607, rs1573704236, rs1574016452, rs778326858, rs887577241, rs1337417322, rs1574097294, rs758993965, rs1574354515, rs1573060017, rs1397263011, rs1262459682, rs1595821204, rs781723572, rs1595838545, rs1595845459, rs1595846922, rs1598265248, rs748798133, rs1180978840, rs1571735403, rs1595826673, rs1583591577, rs1573100371, rs778539477, rs1573671276, rs1573094789, rs866823474, rs1599937963, rs1593197637, rs1364860348, rs754889480, rs1574277160, rs1573138336, rs746844753, rs1577824925, rs936193061, rs1578126090, rs1185229314, rs1392196900, rs776988725, rs11581962, rs1595837172, rs1595794433, rs1575185742, rs1575285509, rs557526069, rs753711667, rs1574264671, rs758107024, rs1574341049, rs1572994572, rs1573009747, rs1590300702, rs1233836740, rs1593216248, rs1229291913, rs1595828703, rs1555421532, rs1595844413, rs1595847257, rs778851652, rs1200988060, rs1574817395, rs575938861, rs1648544786, rs971134497, rs762398889, rs1395588065, rs1737457235, rs1776950897, rs1351510337, rs1881219252, rs1011397929, rs1325816562, rs2052593499, rs2053401167, rs2053442769, rs1566975090, rs763719290, rs2053485642, rs2053509916, rs1409503203, rs774048414, rs2054186817, rs1457010016, rs1904771410, rs1904986620, rs1905103030, rs1905167458, rs1905254738, rs1905256830, rs760989961, rs905322985, rs756798409, rs1883152345, rs113109898, rs1437210856, rs1311819000, rs1054547392, rs150877512, rs1688921542
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Myofibrillar myopathy	Myofibrillar Myopathy	rs121908333, rs121908334, rs28937597, rs121908457, rs121908458, rs121908460, rs121908461, rs121913000, rs60538473, rs57639980, rs121913003, rs57955682, rs121913004, rs121913005, rs57965306, rs104894201, rs104894202, rs121909518, rs281865141, rs281864930, rs62635763, rs387907339, rs62636495, rs397516698, rs398122940, rs57496341, rs267607482, rs58409037, rs59308628, rs61130669, rs57694264, rs61726467, rs267607485, rs267607490, rs267607499, rs267607495, rs58999456, rs267607484, rs267607483, rs267607486, rs267607494, rs869320740, rs869320741, rs786205367, rs869320742, rs753334568, rs869320743, rs150974575, rs730880289, rs781590560, rs878854428, rs377332009, rs886037917, rs886043000, rs886043080, rs369083786, rs755208949, rs781565158, rs1057518754, rs1057518755, rs1060503165, rs1060501315, rs1064793560, rs1114167361, rs1553636324, rs730880345, rs1553501227, rs1553603566, rs1553603732, rs1554849000, rs1554849100, rs1554849133, rs1553603239, rs1559352440, rs1564653469, rs1559187287, rs1560689563, rs1411703397, rs1399282762, rs1575014943, rs776530913, rs1585173340, rs1575014889, rs1965352990, rs62636490, rs139715157, rs1954358233, rs1273708097, rs1954437523, rs959034410
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myopathy with postural muscle atrophy, x-linked	X-linked myopathy with postural muscle atrophy	rs122458141, rs1603271580, rs122458144, rs122458145, rs122459146, rs122459149, rs267606811, rs786200914, rs267606813, rs1060502840, rs1556639151, rs1556638935, rs267606812, rs1556639379, rs1556639771, rs1569530588, rs1569530437, rs1603273685, rs1603272263, rs1603272223, rs122458140, rs2073913069, rs2073866799, rs2073916521
Myopathy, reducing body, x-linked	Myopathy, Reducing Body, X-Linked, Childhood-Onset, Myopathy, Reducing Body, X-Linked, Early-Onset, Severe	rs122458142, rs122458143, rs122458144, rs122458145, rs122459146, rs122459147, rs267606812, rs267606813
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Scapuloperoneal muscular dystrophy, x-linked	X-linked scapuloperoneal muscular dystrophy	rs122458140, rs1603271580
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Heart failure	Heart Failure, Diastolic		29556499	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Emery-Dreifuss Muscular Dystrophy, X-Linked	X-linked Emery-Dreifuss muscular dystrophy			GenCC
Myopathy With Postural Muscle Atrophy, X-Linked	X-linked myopathy with postural muscle atrophy			GenCC
Scapuloperoneal Muscular Dystrophy, X-Linked	X-linked scapuloperoneal muscular dystrophy			GenCC
Myopathy, Reducing Body, X-Linked	myopathy, reducing body, X-linked, early-onset, severe			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	35854639
Adenocarcinoma Follicular	Associate	16675914
Adenocarcinoma of Lung	Associate	36017148, 36695131
Adenocarcinoma of Lung	Inhibit	36752296
Arthritis Reactive	Associate	10931160
Arthritis Rheumatoid	Associate	10931160, 12780697
Breast Neoplasms	Associate	19840196
Carcinogenesis	Associate	19840196, 29454310
Carcinoma Non Small Cell Lung	Associate	36202977
Carcinoma Pancreatic Ductal	Associate	35142956
Carcinoma Squamous Cell	Associate	23938460
Cardiomyopathies	Associate	26933038
Cardiomyopathy Hypertrophic	Associate	11583900, 19716112, 23965743, 31293105, 32993534
Cataract Nuclear Progressive	Associate	27911330
Complement Factor H Deficiency	Associate	18782275
Death	Associate	26933038
Death Sudden Cardiac	Associate	31293105
Drug Related Side Effects and Adverse Reactions	Associate	35607917
Endometriosis	Associate	37426659
Esophageal Squamous Cell Carcinoma	Associate	23321464
Eye Diseases	Associate	34239032
Genetic Diseases X Linked	Associate	26933038
Glioblastoma	Associate	33053208
Glycogen Storage Disease Type IXD	Associate	21629301
GSD IV Neuromuscular Form Fatal Perinatal	Associate	35607917
Heart Diseases	Associate	19716112, 26933038, 32993534
Hereditary Myopathy with Early Respiratory Failure	Associate	35607917
Hernias Diaphragmatic Congenital	Associate	37605849
Hirschsprung Disease	Associate	24516350, 30073757
Inflammation	Associate	10931160
Inflammation	Inhibit	12780697
Laryngeal Neoplasms	Associate	36033826
Leiomyoma	Associate	21685710
Leukemia Myeloid Acute	Associate	35249471
Leukemia T Cell	Associate	32062360
Lymphohistiocytosis Hemophagocytic	Associate	11179007
Macular Degeneration	Associate	29374201, 34239032
Mouth Neoplasms	Associate	29454310
Muscle Weakness	Associate	19181672, 20633900, 21683594
Muscular Diseases	Associate	19716112, 20633900, 21629301, 21683594, 22094483, 23965743, 26933038, 32993534
Muscular Dystrophies	Associate	21683594, 38244535
Muscular Dystrophy Emery Dreifuss	Associate	19716112, 23965743, 27911330, 28214269, 32993534, 35607917
Myofibrillar Myopathy	Associate	22094483, 27443559
Myopathies Structural Congenital	Associate	20633900
Myopathy Myofibrillar Zasp Related	Associate	22094483, 27443559
Myopathy Reducing Body X Linked Childhood Onset	Associate	19181672, 21683594, 23965743
Neoplasms	Associate	16675914, 23086815, 32062360, 33053208, 35854639
Neoplasms	Inhibit	23321464, 36017148, 36695131
Nervous System Diseases	Associate	32993534
Neuromuscular Diseases	Associate	32993534
Ovarian Neoplasms	Associate	12402151, 27035765
Pancreatic Neoplasms	Associate	35142956
Papillary Thyroid Microcarcinoma	Associate	34856364
Polyposis Syndrome Hereditary Mixed 1	Associate	35854639
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	32062360
Prostatic Neoplasms	Associate	21804603
Prostatitis	Associate	21804603
Pulmonary Disease Chronic Obstructive	Associate	31632001, 36808722
Retinitis	Associate	29374201
Scapuloperoneal myopathy	Associate	18179901, 20633900
Scapuloperoneal Myopathy X Linked Dominant	Associate	18179901, 20633900
Skin Diseases	Associate	23938460
Smoke Inhalation Injury	Inhibit	31632001
Squamous Cell Carcinoma of Head and Neck	Inhibit	29454310
Systemic Inflammatory Response Syndrome	Associate	12780697
Uruguay Faciocardiomusculoskeletal Syndrome	Associate	26933038
X Linked Emery Dreifuss Muscular Dystrophy	Associate	32993534, 35607917