KY (kyphoscoliosis peptidase)

Gene

• Entrez ID: 339855
• Gene name: Kyphoscoliosis peptidase
• Gene symbol: KY
• Synonyms (NCBI Gene): MFM7
• Chromosome: 3
• Chromosome location: 3q22.2
• Summary: The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT526294	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT526293	hsa-miR-4499	PAR-CLIP	22012620
MIRT526292	hsa-miR-4463	PAR-CLIP	22012620
MIRT526290	hsa-miR-4539	PAR-CLIP	22012620
MIRT526291	hsa-miR-18a-3p	PAR-CLIP	22012620
MIRT526288	hsa-miR-7976	PAR-CLIP	22012620
MIRT526289	hsa-miR-3173-5p	PAR-CLIP	22012620
MIRT526286	hsa-miR-6799-3p	PAR-CLIP	22012620
MIRT526287	hsa-miR-146b-3p	PAR-CLIP	22012620
MIRT526285	hsa-miR-151a-3p	PAR-CLIP	22012620
MIRT526284	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT526283	hsa-miR-874-3p	PAR-CLIP	22012620
MIRT526281	hsa-miR-7702	PAR-CLIP	22012620
MIRT526282	hsa-miR-6514-5p	PAR-CLIP	22012620
MIRT526274	hsa-miR-183-5p	PAR-CLIP	22012620
MIRT526280	hsa-miR-4267	PAR-CLIP	22012620
MIRT526279	hsa-miR-610	PAR-CLIP	22012620
MIRT526278	hsa-miR-4663	PAR-CLIP	22012620
MIRT526277	hsa-miR-1289	PAR-CLIP	22012620
MIRT526276	hsa-miR-4294	PAR-CLIP	22012620
MIRT526275	hsa-miR-3198	PAR-CLIP	22012620
MIRT526273	hsa-miR-4309	PAR-CLIP	22012620
MIRT526274	hsa-miR-183-5p	PAR-CLIP	22012620
MIRT526294	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT526293	hsa-miR-4499	PAR-CLIP	22012620
MIRT526292	hsa-miR-4463	PAR-CLIP	22012620
MIRT526290	hsa-miR-4539	PAR-CLIP	22012620
MIRT526291	hsa-miR-18a-3p	PAR-CLIP	22012620
MIRT526288	hsa-miR-7976	PAR-CLIP	22012620
MIRT526289	hsa-miR-3173-5p	PAR-CLIP	22012620
MIRT526286	hsa-miR-6799-3p	PAR-CLIP	22012620
MIRT526287	hsa-miR-146b-3p	PAR-CLIP	22012620
MIRT526285	hsa-miR-151a-3p	PAR-CLIP	22012620
MIRT526284	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT526283	hsa-miR-874-3p	PAR-CLIP	22012620
MIRT526281	hsa-miR-7702	PAR-CLIP	22012620
MIRT526282	hsa-miR-6514-5p	PAR-CLIP	22012620
MIRT526274	hsa-miR-183-5p	PAR-CLIP	22012620
MIRT526280	hsa-miR-4267	PAR-CLIP	22012620
MIRT526279	hsa-miR-610	PAR-CLIP	22012620
MIRT526278	hsa-miR-4663	PAR-CLIP	22012620
MIRT526277	hsa-miR-1289	PAR-CLIP	22012620
MIRT526276	hsa-miR-4294	PAR-CLIP	22012620
MIRT526275	hsa-miR-3198	PAR-CLIP	22012620
MIRT526273	hsa-miR-4309	PAR-CLIP	22012620
MIRT526274	hsa-miR-183-5p	PAR-CLIP	22012620
MIRT1102456	hsa-miR-1207-3p	CLIP-seq
MIRT1102457	hsa-miR-1226	CLIP-seq
MIRT1102458	hsa-miR-1237	CLIP-seq
MIRT1102459	hsa-miR-1248	CLIP-seq
MIRT1102460	hsa-miR-125a-3p	CLIP-seq
MIRT1102461	hsa-miR-1273g	CLIP-seq
MIRT1102462	hsa-miR-1276	CLIP-seq
MIRT1102463	hsa-miR-1285	CLIP-seq
MIRT1102464	hsa-miR-1291	CLIP-seq
MIRT1102465	hsa-miR-1294	CLIP-seq
MIRT1102466	hsa-miR-1297	CLIP-seq
MIRT1102467	hsa-miR-1302	CLIP-seq
MIRT1102468	hsa-miR-1305	CLIP-seq
MIRT1102469	hsa-miR-138	CLIP-seq
MIRT1102470	hsa-miR-1827	CLIP-seq
MIRT1102471	hsa-miR-183	CLIP-seq
MIRT1102472	hsa-miR-1914	CLIP-seq
MIRT1102473	hsa-miR-2113	CLIP-seq
MIRT1102474	hsa-miR-2278	CLIP-seq
MIRT1102475	hsa-miR-2467-3p	CLIP-seq
MIRT1102476	hsa-miR-26a	CLIP-seq
MIRT1102477	hsa-miR-26b	CLIP-seq
MIRT1102478	hsa-miR-3064-5p	CLIP-seq
MIRT1102479	hsa-miR-3135b	CLIP-seq
MIRT1102480	hsa-miR-3150b-3p	CLIP-seq
MIRT1102481	hsa-miR-3183	CLIP-seq
MIRT1102482	hsa-miR-3187-5p	CLIP-seq
MIRT1102483	hsa-miR-3192	CLIP-seq
MIRT1102484	hsa-miR-328	CLIP-seq
MIRT1102485	hsa-miR-3529	CLIP-seq
MIRT1102486	hsa-miR-3591-3p	CLIP-seq
MIRT1102487	hsa-miR-3688-5p	CLIP-seq
MIRT1102488	hsa-miR-3689a-3p	CLIP-seq
MIRT1102489	hsa-miR-3689c	CLIP-seq
MIRT1102490	hsa-miR-3689d	CLIP-seq
MIRT1102491	hsa-miR-379	CLIP-seq
MIRT1102492	hsa-miR-383	CLIP-seq
MIRT1102493	hsa-miR-3934	CLIP-seq
MIRT1102494	hsa-miR-4252	CLIP-seq
MIRT1102495	hsa-miR-4257	CLIP-seq
MIRT1102496	hsa-miR-4264	CLIP-seq
MIRT1102497	hsa-miR-4279	CLIP-seq
MIRT1102498	hsa-miR-4298	CLIP-seq
MIRT1102499	hsa-miR-4311	CLIP-seq
MIRT1102500	hsa-miR-4314	CLIP-seq
MIRT1102501	hsa-miR-4316	CLIP-seq
MIRT1102502	hsa-miR-4330	CLIP-seq
MIRT1102503	hsa-miR-4434	CLIP-seq
MIRT1102504	hsa-miR-4451	CLIP-seq
MIRT1102505	hsa-miR-4465	CLIP-seq
MIRT1102506	hsa-miR-4468	CLIP-seq
MIRT1102507	hsa-miR-4487	CLIP-seq
MIRT1102508	hsa-miR-4488	CLIP-seq
MIRT1102509	hsa-miR-4509	CLIP-seq
MIRT1102510	hsa-miR-4516	CLIP-seq
MIRT1102511	hsa-miR-4646-5p	CLIP-seq
MIRT1102512	hsa-miR-4648	CLIP-seq
MIRT1102513	hsa-miR-4649-3p	CLIP-seq
MIRT1102514	hsa-miR-4650-3p	CLIP-seq
MIRT1102515	hsa-miR-4687-3p	CLIP-seq
MIRT1102516	hsa-miR-4697-5p	CLIP-seq
MIRT1102517	hsa-miR-4723-3p	CLIP-seq
MIRT1102518	hsa-miR-4728-5p	CLIP-seq
MIRT1102519	hsa-miR-4744	CLIP-seq
MIRT1102520	hsa-miR-4757-5p	CLIP-seq
MIRT1102521	hsa-miR-4764-5p	CLIP-seq
MIRT1102522	hsa-miR-4772-5p	CLIP-seq
MIRT1102523	hsa-miR-4784	CLIP-seq
MIRT1102524	hsa-miR-4797-3p	CLIP-seq
MIRT1102525	hsa-miR-4799-5p	CLIP-seq
MIRT1102526	hsa-miR-498	CLIP-seq
MIRT1102527	hsa-miR-550a	CLIP-seq
MIRT1102528	hsa-miR-563	CLIP-seq
MIRT1102529	hsa-miR-583	CLIP-seq
MIRT1102530	hsa-miR-600	CLIP-seq
MIRT1102531	hsa-miR-612	CLIP-seq
MIRT1102532	hsa-miR-622	CLIP-seq
MIRT1102533	hsa-miR-634	CLIP-seq
MIRT1102534	hsa-miR-637	CLIP-seq
MIRT1102535	hsa-miR-764	CLIP-seq
MIRT1102536	hsa-miR-765	CLIP-seq
MIRT1550636	hsa-miR-4514	CLIP-seq
MIRT1550637	hsa-miR-4692	CLIP-seq
MIRT1102456	hsa-miR-1207-3p	CLIP-seq
MIRT2028056	hsa-miR-1253	CLIP-seq
MIRT1102463	hsa-miR-1285	CLIP-seq
MIRT2028057	hsa-miR-1293	CLIP-seq
MIRT1102466	hsa-miR-1297	CLIP-seq
MIRT1102467	hsa-miR-1302	CLIP-seq
MIRT1102468	hsa-miR-1305	CLIP-seq
MIRT2028058	hsa-miR-1470	CLIP-seq
MIRT1102470	hsa-miR-1827	CLIP-seq
MIRT2028059	hsa-miR-1976	CLIP-seq
MIRT2028060	hsa-miR-198	CLIP-seq
MIRT2028061	hsa-miR-2052	CLIP-seq
MIRT1102475	hsa-miR-2467-3p	CLIP-seq
MIRT1102476	hsa-miR-26a	CLIP-seq
MIRT1102477	hsa-miR-26b	CLIP-seq
MIRT1102479	hsa-miR-3135b	CLIP-seq
MIRT2028062	hsa-miR-3144-5p	CLIP-seq
MIRT1102482	hsa-miR-3187-5p	CLIP-seq
MIRT2028063	hsa-miR-3191	CLIP-seq
MIRT2028064	hsa-miR-34a	CLIP-seq
MIRT2028065	hsa-miR-34c-5p	CLIP-seq
MIRT1102490	hsa-miR-3689d	CLIP-seq
MIRT2028066	hsa-miR-370	CLIP-seq
MIRT1102495	hsa-miR-4257	CLIP-seq
MIRT1102496	hsa-miR-4264	CLIP-seq
MIRT1102498	hsa-miR-4298	CLIP-seq
MIRT2028067	hsa-miR-4310	CLIP-seq
MIRT2028068	hsa-miR-4325	CLIP-seq
MIRT1102505	hsa-miR-4465	CLIP-seq
MIRT2028069	hsa-miR-4483	CLIP-seq
MIRT1102507	hsa-miR-4487	CLIP-seq
MIRT1102508	hsa-miR-4488	CLIP-seq
MIRT2028070	hsa-miR-449a	CLIP-seq
MIRT2028071	hsa-miR-449b	CLIP-seq
MIRT2028072	hsa-miR-4646-3p	CLIP-seq
MIRT1102512	hsa-miR-4648	CLIP-seq
MIRT1102513	hsa-miR-4649-3p	CLIP-seq
MIRT2028073	hsa-miR-4652-5p	CLIP-seq
MIRT2028074	hsa-miR-4660	CLIP-seq
MIRT2028075	hsa-miR-4667-3p	CLIP-seq
MIRT2028076	hsa-miR-4670-3p	CLIP-seq
MIRT2028077	hsa-miR-4677-3p	CLIP-seq
MIRT2028078	hsa-miR-4679	CLIP-seq
MIRT2028079	hsa-miR-4685-5p	CLIP-seq
MIRT1102516	hsa-miR-4697-5p	CLIP-seq
MIRT2028080	hsa-miR-4720-3p	CLIP-seq
MIRT2028081	hsa-miR-4731-5p	CLIP-seq
MIRT1102520	hsa-miR-4757-5p	CLIP-seq
MIRT2028082	hsa-miR-4793-3p	CLIP-seq
MIRT1102524	hsa-miR-4797-3p	CLIP-seq
MIRT2028083	hsa-miR-4804-3p	CLIP-seq
MIRT2028084	hsa-miR-491-5p	CLIP-seq
MIRT1102526	hsa-miR-498	CLIP-seq
MIRT1102531	hsa-miR-612	CLIP-seq
MIRT1102532	hsa-miR-622	CLIP-seq
MIRT2259207	hsa-miR-1200	CLIP-seq
MIRT1102457	hsa-miR-1226	CLIP-seq
MIRT1102458	hsa-miR-1237	CLIP-seq
MIRT2259208	hsa-miR-1245b-5p	CLIP-seq
MIRT1102459	hsa-miR-1248	CLIP-seq
MIRT2259209	hsa-miR-1254	CLIP-seq
MIRT2259210	hsa-miR-1261	CLIP-seq
MIRT1102467	hsa-miR-1302	CLIP-seq
MIRT2259211	hsa-miR-151-3p	CLIP-seq
MIRT2259212	hsa-miR-15a	CLIP-seq
MIRT2259213	hsa-miR-15b	CLIP-seq
MIRT2259214	hsa-miR-16	CLIP-seq
MIRT1102470	hsa-miR-1827	CLIP-seq
MIRT1102472	hsa-miR-1914	CLIP-seq
MIRT2259215	hsa-miR-195	CLIP-seq
MIRT2259216	hsa-miR-1972	CLIP-seq
MIRT2259217	hsa-miR-23a	CLIP-seq
MIRT2259218	hsa-miR-23b	CLIP-seq
MIRT2259219	hsa-miR-23c	CLIP-seq
MIRT1102475	hsa-miR-2467-3p	CLIP-seq
MIRT2259220	hsa-miR-2909	CLIP-seq
MIRT2259221	hsa-miR-3116	CLIP-seq
MIRT2259222	hsa-miR-3120-3p	CLIP-seq
MIRT2259223	hsa-miR-3142	CLIP-seq
MIRT2028062	hsa-miR-3144-5p	CLIP-seq
MIRT2259224	hsa-miR-3150a-3p	CLIP-seq
MIRT2259225	hsa-miR-3151	CLIP-seq
MIRT2259226	hsa-miR-3175	CLIP-seq
MIRT2028063	hsa-miR-3191	CLIP-seq
MIRT2259227	hsa-miR-323b-5p	CLIP-seq
MIRT1102486	hsa-miR-3591-3p	CLIP-seq
MIRT2259228	hsa-miR-3606	CLIP-seq
MIRT2259229	hsa-miR-3616-3p	CLIP-seq
MIRT1102487	hsa-miR-3688-5p	CLIP-seq
MIRT2259230	hsa-miR-424	CLIP-seq
MIRT1102495	hsa-miR-4257	CLIP-seq
MIRT2259231	hsa-miR-4269	CLIP-seq
MIRT2259232	hsa-miR-4278	CLIP-seq
MIRT1102498	hsa-miR-4298	CLIP-seq
MIRT2259233	hsa-miR-4307	CLIP-seq
MIRT1102503	hsa-miR-4434	CLIP-seq
MIRT2259234	hsa-miR-4447	CLIP-seq
MIRT2259235	hsa-miR-4472	CLIP-seq
MIRT1102510	hsa-miR-4516	CLIP-seq
MIRT2259236	hsa-miR-4531	CLIP-seq
MIRT2259237	hsa-miR-4642	CLIP-seq
MIRT2259238	hsa-miR-4645-5p	CLIP-seq
MIRT1102512	hsa-miR-4648	CLIP-seq
MIRT1102513	hsa-miR-4649-3p	CLIP-seq
MIRT2259239	hsa-miR-4650-5p	CLIP-seq
MIRT2028073	hsa-miR-4652-5p	CLIP-seq
MIRT2259240	hsa-miR-4673	CLIP-seq
MIRT2259241	hsa-miR-4675	CLIP-seq
MIRT2259242	hsa-miR-4704-3p	CLIP-seq
MIRT1102518	hsa-miR-4728-5p	CLIP-seq
MIRT2259243	hsa-miR-4741	CLIP-seq
MIRT2259244	hsa-miR-4802-3p	CLIP-seq
MIRT2028084	hsa-miR-491-5p	CLIP-seq
MIRT2259245	hsa-miR-497	CLIP-seq
MIRT2259246	hsa-miR-508-5p	CLIP-seq
MIRT1102533	hsa-miR-634	CLIP-seq
MIRT2259247	hsa-miR-939	CLIP-seq
MIRT2259210	hsa-miR-1261	CLIP-seq
MIRT1102467	hsa-miR-1302	CLIP-seq
MIRT1102470	hsa-miR-1827	CLIP-seq
MIRT1102472	hsa-miR-1914	CLIP-seq
MIRT1102475	hsa-miR-2467-3p	CLIP-seq
MIRT1102487	hsa-miR-3688-5p	CLIP-seq
MIRT1102495	hsa-miR-4257	CLIP-seq
MIRT1102498	hsa-miR-4298	CLIP-seq
MIRT1102512	hsa-miR-4648	CLIP-seq
MIRT1102513	hsa-miR-4649-3p	CLIP-seq
MIRT2442314	hsa-miR-153	CLIP-seq
MIRT2442315	hsa-miR-323-5p	CLIP-seq
MIRT2442316	hsa-miR-4633-5p	CLIP-seq
MIRT2442317	hsa-miR-532-5p	CLIP-seq
MIRT2442318	hsa-miR-876-3p	CLIP-seq
MIRT2259209	hsa-miR-1254	CLIP-seq
MIRT1102465	hsa-miR-1294	CLIP-seq
MIRT1102471	hsa-miR-183	CLIP-seq
MIRT2452816	hsa-miR-2861	CLIP-seq
MIRT2259221	hsa-miR-3116	CLIP-seq
MIRT1102479	hsa-miR-3135b	CLIP-seq
MIRT2452817	hsa-miR-3155	CLIP-seq
MIRT2452818	hsa-miR-3155b	CLIP-seq
MIRT2259229	hsa-miR-3616-3p	CLIP-seq
MIRT1102501	hsa-miR-4316	CLIP-seq
MIRT1102503	hsa-miR-4434	CLIP-seq
MIRT1102507	hsa-miR-4487	CLIP-seq
MIRT2452819	hsa-miR-4512	CLIP-seq
MIRT1102510	hsa-miR-4516	CLIP-seq
MIRT2259236	hsa-miR-4531	CLIP-seq
MIRT2028077	hsa-miR-4677-3p	CLIP-seq
MIRT2028078	hsa-miR-4679	CLIP-seq
MIRT2452820	hsa-miR-4721	CLIP-seq
MIRT2452821	hsa-miR-484	CLIP-seq
MIRT2452822	hsa-miR-760	CLIP-seq
MIRT1102471	hsa-miR-183	CLIP-seq
MIRT1102479	hsa-miR-3135b	CLIP-seq
MIRT1102503	hsa-miR-4434	CLIP-seq
MIRT1102507	hsa-miR-4487	CLIP-seq
MIRT1102510	hsa-miR-4516	CLIP-seq
MIRT2259236	hsa-miR-4531	CLIP-seq
MIRT2028057	hsa-miR-1293	CLIP-seq
MIRT2028062	hsa-miR-3144-5p	CLIP-seq
MIRT2028063	hsa-miR-3191	CLIP-seq
MIRT2028064	hsa-miR-34a	CLIP-seq
MIRT2028065	hsa-miR-34c-5p	CLIP-seq
MIRT2028069	hsa-miR-4483	CLIP-seq
MIRT2028070	hsa-miR-449a	CLIP-seq
MIRT2028071	hsa-miR-449b	CLIP-seq
MIRT2028073	hsa-miR-4652-5p	CLIP-seq
MIRT2028081	hsa-miR-4731-5p	CLIP-seq
MIRT2028084	hsa-miR-491-5p	CLIP-seq
MIRT2028057	hsa-miR-1293	CLIP-seq
MIRT2028062	hsa-miR-3144-5p	CLIP-seq
MIRT2028063	hsa-miR-3191	CLIP-seq
MIRT2028064	hsa-miR-34a	CLIP-seq
MIRT2028065	hsa-miR-34c-5p	CLIP-seq
MIRT2028069	hsa-miR-4483	CLIP-seq
MIRT2028070	hsa-miR-449a	CLIP-seq
MIRT2028071	hsa-miR-449b	CLIP-seq
MIRT2028073	hsa-miR-4652-5p	CLIP-seq
MIRT2028081	hsa-miR-4731-5p	CLIP-seq
MIRT2028084	hsa-miR-491-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007517	Process	Muscle organ development	IBA
GO:0007528	Process	Neuromuscular junction development	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS

Other IDs

• MIM: 605739
• HGNC: 26576
• e!Ensembl: ENSG00000174611

Protein

• UniProt ID: Q8NBH2
• Protein name: Kyphoscoliosis peptidase (EC 3.4.-.-)
• Protein function: Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity). {ECO:000025
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01841	Transglut_core	169 → 283	Transglutaminase-like superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in skeletal muscle. {ECO:0000269|PubMed:27485408}.
• Sequence:

  MELKKDINAVSIDMLLIVHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKL
  EGNDFHENLVEKQHPQQPQVITSYNSQGTQLTVEVHPRDAMPQLLKKFSLAKRLQGDKNG
  NTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYASQVTAKSGLDELVSDLLQEAH
  TDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAG
  VQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFL
  YNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQFENNMYHKSEFYNKGMLSAHPETSM
  IRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGMKLEVYPPTMGTHKLQIFAKG
  NSDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRC
  SISFSVEEGINVLASLHGDDGPITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVK
  KRQEPGNYIFVFNYLVCCANTKVNWPMFPESFGNWGQDNELLEPLSGVLPANRNVPFKLK
  LHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVMVLENANHNFYSYILKYKVNA
  Q

• Sequence length: 661

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hereditary spastic paraplegia	Pathogenic	rs1085307110	RCV000488883	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy 7	Likely pathogenic; Pathogenic	rs2107735424, rs2547432519, rs377332009, rs886037917, rs762212832, rs373240849	RCV001824281 RCV003146861 RCV000240829 RCV000240807 RCV003331854 RCV001293458	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KY-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOFIBRILLAR MYOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	27484770		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	32818658	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy	Myofibrillar myopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	29914939		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, 7	Myofibrillar myopathy	ORPHANET_DG	27484770, 27485408		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, 7	Myofibrillar myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	27485408		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	27485408	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	28488683		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	32818658	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28488683		★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only