1. Gene
  2. TTN - titin Gene

TTN - titin Gene

Homo sapiens

Also known as TMD; CMH9; CMD1G; CMPD4; EOMFC; HMERF; MYLK5; SALMY; LGMD2J; LGMDR10

Gene ID: 7273 | Gene type: protein coding

About TTN

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,525,989-178,807,423 (from NCBI)

This gene has 16 transcripts (splice variants), 224 orthologues and is associated with 21 phenotypes. Biased expression in heart (RPKM 14.7), prostate (RPKM 1.9) and 1 other tissue.

Summary

This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]

TTN Products(7)

mRNA Protein Name
NM_001256850.1 NP_001243779.1 titin isoform N2BA
NM_001267550.2 NP_001254479.2 titin isoform IC
NM_003319.4 NP_003310.4 titin isoform N2-B
NM_133378.4 NP_596869.4 titin isoform N2-A
NM_133379.5 NP_596870.2 titin isoform novex-3
NM_133432.3 NP_597676.3 titin isoform novex-1
NM_133437.4 NP_597681.4 titin isoform novex-2

TTN Protein Structure

I-set

I-set: Immunoglobulin I-set domain (6 - 97)

I-set

I-set: Immunoglobulin I-set domain (104 - 193)

Titin_Z

Titin_Z: Titin Z (414 - 454)

Titin_Z

Titin_Z: Titin Z (464 - 505)

Titin_Z

Titin_Z: Titin Z (510 - 549)

Titin_Z

Titin_Z: Titin Z (552 - 593)

Titin_Z

Titin_Z: Titin Z (598 - 639)

Titin_Z

Titin_Z: Titin Z (644 - 685)

I-set

I-set: Immunoglobulin I-set domain (944 - 1032)

I-set

I-set: Immunoglobulin I-set domain (1082 - 1171)

I-set

I-set: Immunoglobulin I-set domain (1293 - 1380)

I-set

I-set: Immunoglobulin I-set domain (1457 - 1547)

I-set

I-set: Immunoglobulin I-set domain (1556 - 1647)

I-set

I-set: Immunoglobulin I-set domain (1705 - 1794)

I-set

I-set: Immunoglobulin I-set domain (1842 - 1929)

I-set

I-set: Immunoglobulin I-set domain (2078 - 2168)

I-set

I-set: Immunoglobulin I-set domain (2175 - 2262)

I-set

I-set: Immunoglobulin I-set domain (2268 - 2343)

I-set

I-set: Immunoglobulin I-set domain (2358 - 2428)

I-set

I-set: Immunoglobulin I-set domain (2447 - 2519)

I-set

I-set: Immunoglobulin I-set domain (2534 - 2609)

I-set

I-set: Immunoglobulin I-set domain (2622 - 2703)

I-set

I-set: Immunoglobulin I-set domain (2708 - 2778)

I-set

I-set: Immunoglobulin I-set domain (2796 - 2877)

I-set

I-set: Immunoglobulin I-set domain (2883 - 2962)

I-set

I-set: Immunoglobulin I-set domain (2971 - 3050)

I-set

I-set: Immunoglobulin I-set domain (3059 - 3136)

I-set

I-set: Immunoglobulin I-set domain (3149 - 3223)

I-set

I-set: Immunoglobulin I-set domain (3239 - 3328)

I-set

I-set: Immunoglobulin I-set domain (3345 - 3432)

I-set

I-set: Immunoglobulin I-set domain (3504 - 3592)

I-set

I-set: Immunoglobulin I-set domain (3621 - 3711)

I-set

I-set: Immunoglobulin I-set domain (4289 - 4377)

I-set

I-set: Immunoglobulin I-set domain (4383 - 4472)

I-set

I-set: Immunoglobulin I-set domain (4478 - 4567)

I-set

I-set: Immunoglobulin I-set domain (4571 - 4660)

I-set

I-set: Immunoglobulin I-set domain (4675 - 4753)

I-set

I-set: Immunoglobulin I-set domain (4758 - 4842)

I-set

I-set: Immunoglobulin I-set domain (4851 - 4940)

I-set

I-set: Immunoglobulin I-set domain (4948 - 5033)

I-set

I-set: Immunoglobulin I-set domain (5040 - 5128)

I-set

I-set: Immunoglobulin I-set domain (5133 - 5222)

I-set

I-set: Immunoglobulin I-set domain (5235 - 5315)

I-set

I-set: Immunoglobulin I-set domain (5320 - 5408)

I-set

I-set: Immunoglobulin I-set domain (5413 - 5502)

I-set

I-set: Immunoglobulin I-set domain (5508 - 5595)

I-set

I-set: Immunoglobulin I-set domain (5602 - 5691)

I-set

I-set: Immunoglobulin I-set domain (5695 - 5784)

I-set

I-set: Immunoglobulin I-set domain (5788 - 5878)

I-set

I-set: Immunoglobulin I-set domain (5882 - 5969)

I-set

I-set: Immunoglobulin I-set domain (5975 - 6064)

I-set

I-set: Immunoglobulin I-set domain (6069 - 6157)

I-set

I-set: Immunoglobulin I-set domain (6164 - 6253)

I-set

I-set: Immunoglobulin I-set domain (6257 - 6346)

I-set

I-set: Immunoglobulin I-set domain (6350 - 6440)

I-set

I-set: Immunoglobulin I-set domain (6444 - 6532)

I-set

I-set: Immunoglobulin I-set domain (6537 - 6627)

I-set

I-set: Immunoglobulin I-set domain (6633 - 6720)

I-set

I-set: Immunoglobulin I-set domain (6727 - 6816)

I-set

I-set: Immunoglobulin I-set domain (6820 - 6909)

I-set

I-set: Immunoglobulin I-set domain (6915 - 6998)

I-set

I-set: Immunoglobulin I-set domain (7006 - 7091)

I-set

I-set: Immunoglobulin I-set domain (7102 - 7190)

I-set

I-set: Immunoglobulin I-set domain (7198 - 7287)

I-set

I-set: Immunoglobulin I-set domain (7291 - 7381)

I-set

I-set: Immunoglobulin I-set domain (7385 - 7473)

I-set

I-set: Immunoglobulin I-set domain (7478 - 7568)

I-set

I-set: Immunoglobulin I-set domain (7573 - 7661)

I-set

I-set: Immunoglobulin I-set domain (7668 - 7757)

I-set

I-set: Immunoglobulin I-set domain (7761 - 7850)

I-set

I-set: Immunoglobulin I-set domain (7855 - 7943)

I-set

I-set: Immunoglobulin I-set domain (7947 - 8035)

I-set

I-set: Immunoglobulin I-set domain (8043 - 8130)

I-set

I-set: Immunoglobulin I-set domain (8139 - 8228)

I-set

I-set: Immunoglobulin I-set domain (8232 - 8322)

I-set

I-set: Immunoglobulin I-set domain (8326 - 8409)

I-set

I-set: Immunoglobulin I-set domain (8419 - 8509)

I-set

I-set: Immunoglobulin I-set domain (8514 - 8602)

I-set

I-set: Immunoglobulin I-set domain (8609 - 8698)

I-set

I-set: Immunoglobulin I-set domain (8702 - 8790)

I-set

I-set: Immunoglobulin I-set domain (8796 - 8882)

I-set

I-set: Immunoglobulin I-set domain (8888 - 8977)

I-set

I-set: Immunoglobulin I-set domain (8984 - 9071)

I-set

I-set: Immunoglobulin I-set domain (9080 - 9169)

I-set

I-set: Immunoglobulin I-set domain (9176 - 9264)

I-set

I-set: Immunoglobulin I-set domain (9273 - 9362)

I-set

I-set: Immunoglobulin I-set domain (9383 - 9471)

I-set

I-set: Immunoglobulin I-set domain (9587 - 9657)

I-set

I-set: Immunoglobulin I-set domain (9675 - 9746)

I-set

I-set: Immunoglobulin I-set domain (9762 - 9848)

PPAK

PPAK: PPAK motif (10187 - 10211)

PPAK

PPAK: PPAK motif (10268 - 10294)

PPAK

PPAK: PPAK motif (10295 - 10321)

PPAK

PPAK: PPAK motif (10503 - 10529)

PPAK

PPAK: PPAK motif (10560 - 10586)

PPAK

PPAK: PPAK motif (10587 - 10614)

PPAK

PPAK: PPAK motif (10615 - 10641)

PPAK

PPAK: PPAK motif (10762 - 10787)

PPAK

PPAK: PPAK motif (10927 - 10954)

PPAK

PPAK: PPAK motif (10955 - 10982)

PPAK

PPAK: PPAK motif (10983 - 11010)

PPAK

PPAK: PPAK motif (11392 - 11415)

PPAK

PPAK: PPAK motif (11476 - 11503)

PPAK

PPAK: PPAK motif (11644 - 11671)

PPAK

PPAK: PPAK motif (11698 - 11725)

I-set

I-set: Immunoglobulin I-set domain (12059 - 12134)

Ig_2

Ig_2: Immunoglobulin domain (12147 - 12224)

I-set

I-set: Immunoglobulin I-set domain (12415 - 12488)

I-set

I-set: Immunoglobulin I-set domain (12502 - 12578)

I-set

I-set: Immunoglobulin I-set domain (12590 - 12669)

I-set

I-set: Immunoglobulin I-set domain (12769 - 12843)

I-set

I-set: Immunoglobulin I-set domain (12857 - 12937)

I-set

I-set: Immunoglobulin I-set domain (12945 - 13017)

I-set

I-set: Immunoglobulin I-set domain (13127 - 13197)

I-set

I-set: Immunoglobulin I-set domain (13213 - 13286)

I-set

I-set: Immunoglobulin I-set domain (13302 - 13376)

I-set

I-set: Immunoglobulin I-set domain (13391 - 13464)

I-set

I-set: Immunoglobulin I-set domain (13480 - 13552)

I-set

I-set: Immunoglobulin I-set domain (13569 - 13656)

I-set

I-set: Immunoglobulin I-set domain (13662 - 13735)

I-set

I-set: Immunoglobulin I-set domain (13751 - 13826)

I-set

I-set: Immunoglobulin I-set domain (13841 - 13916)

I-set

I-set: Immunoglobulin I-set domain (13927 - 14013)

fn3

fn3: Fibronectin type III domain (14019 - 14102)

fn3

fn3: Fibronectin type III domain (14120 - 14204)

fn3

fn3: Fibronectin type III domain (14220 - 14305)

I-set

I-set: Immunoglobulin I-set domain (14343 - 14411)

fn3

fn3: Fibronectin type III domain (14416 - 14499)

fn3

fn3: Fibronectin type III domain (14516 - 14600)

I-set

I-set: Immunoglobulin I-set domain (14626 - 14707)

fn3

fn3: Fibronectin type III domain (14713 - 14794)

fn3

fn3: Fibronectin type III domain (14812 - 14896)

fn3

fn3: Fibronectin type III domain (14913 - 14996)

fn3

fn3: Fibronectin type III domain (15012 - 15094)

fn3

fn3: Fibronectin type III domain (15113 - 15197)

fn3

fn3: Fibronectin type III domain (15213 - 15299)

I-set

I-set: Immunoglobulin I-set domain (15314 - 15403)

fn3

fn3: Fibronectin type III domain (15411 - 15490)

fn3

fn3: Fibronectin type III domain (15508 - 15593)

I-set

I-set: Immunoglobulin I-set domain (15615 - 15725)

fn3

fn3: Fibronectin type III domain (15731 - 15815)

fn3

fn3: Fibronectin type III domain (15831 - 15915)

fn3

fn3: Fibronectin type III domain (15932 - 16014)

I-set

I-set: Immunoglobulin I-set domain (16041 - 16120)

fn3

fn3: Fibronectin type III domain (16137 - 16207)

fn3

fn3: Fibronectin type III domain (16224 - 16308)

I-set

I-set: Immunoglobulin I-set domain (16334 - 16421)

fn3

fn3: Fibronectin type III domain (16426 - 16509)

fn3

fn3: Fibronectin type III domain (16528 - 16617)

fn3

fn3: Fibronectin type III domain (16634 - 16720)

I-set

I-set: Immunoglobulin I-set domain (16747 - 16835)

fn3

fn3: Fibronectin type III domain (16841 - 16923)

fn3

fn3: Fibronectin type III domain (16941 - 17030)

I-set

I-set: Immunoglobulin I-set domain (17053 - 17140)

fn3

fn3: Fibronectin type III domain (17146 - 17229)

fn3

fn3: Fibronectin type III domain (17246 - 17334)

fn3

fn3: Fibronectin type III domain (17351 - 17433)

I-set

I-set: Immunoglobulin I-set domain (17459 - 17539)

fn3

fn3: Fibronectin type III domain (17552 - 17627)

fn3

fn3: Fibronectin type III domain (17646 - 17730)

I-set

I-set: Immunoglobulin I-set domain (17754 - 17835)

fn3

fn3: Fibronectin type III domain (17841 - 17921)

fn3

fn3: Fibronectin type III domain (17940 - 18025)

fn3

fn3: Fibronectin type III domain (18041 - 18127)

I-set

I-set: Immunoglobulin I-set domain (18153 - 18233)

fn3

fn3: Fibronectin type III domain (18239 - 18320)

fn3

fn3: Fibronectin type III domain (18339 - 18418)

I-set

I-set: Immunoglobulin I-set domain (18445 - 18527)

fn3

fn3: Fibronectin type III domain (18536 - 18616)

fn3

fn3: Fibronectin type III domain (18632 - 18716)

fn3

fn3: Fibronectin type III domain (18733 - 18817)

I-set

I-set: Immunoglobulin I-set domain (18845 - 18925)

fn3

fn3: Fibronectin type III domain (18931 - 19011)

fn3

fn3: Fibronectin type III domain (19030 - 19113)

I-set

I-set: Immunoglobulin I-set domain (19137 - 19220)

fn3

fn3: Fibronectin type III domain (19226 - 19308)

fn3

fn3: Fibronectin type III domain (19326 - 19409)

fn3

fn3: Fibronectin type III domain (19426 - 19515)

I-set

I-set: Immunoglobulin I-set domain (19543 - 19622)

fn3

fn3: Fibronectin type III domain (19628 - 19710)

fn3

fn3: Fibronectin type III domain (19727 - 19809)

I-set

I-set: Immunoglobulin I-set domain (19832 - 19915)

fn3

fn3: Fibronectin type III domain (19925 - 20003)

fn3

fn3: Fibronectin type III domain (20020 - 20105)

fn3

fn3: Fibronectin type III domain (20118 - 20205)

I-set

I-set: Immunoglobulin I-set domain (20232 - 20312)

fn3

fn3: Fibronectin type III domain (20318 - 20399)

fn3

fn3: Fibronectin type III domain (20422 - 20501)

fn3

fn3: Fibronectin type III domain (20518 - 20603)

I-set

I-set: Immunoglobulin I-set domain (20630 - 20710)

fn3

fn3: Fibronectin type III domain (20716 - 20798)

fn3

fn3: Fibronectin type III domain (20813 - 20894)

I-set

I-set: Immunoglobulin I-set domain (20921 - 20999)

fn3

fn3: Fibronectin type III domain (21009 - 21087)

fn3

fn3: Fibronectin type III domain (21104 - 21189)

fn3

fn3: Fibronectin type III domain (21202 - 21288)

I-set

I-set: Immunoglobulin I-set domain (21315 - 21396)

fn3

fn3: Fibronectin type III domain (21402 - 21484)

fn3

fn3: Fibronectin type III domain (21501 - 21585)

fn3

fn3: Fibronectin type III domain (21602 - 21686)

I-set

I-set: Immunoglobulin I-set domain (21711 - 21790)

fn3

fn3: Fibronectin type III domain (21797 - 21879)

fn3

fn3: Fibronectin type III domain (21893 - 21974)

I-set

I-set: Immunoglobulin I-set domain (22002 - 22082)

fn3

fn3: Fibronectin type III domain (22089 - 22170)

fn3

fn3: Fibronectin type III domain (22188 - 22272)

fn3

fn3: Fibronectin type III domain (22286 - 22371)

I-set

I-set: Immunoglobulin I-set domain (22397 - 22478)

fn3

fn3: Fibronectin type III domain (22484 - 22567)

fn3

fn3: Fibronectin type III domain (22583 - 22668)

fn3

fn3: Fibronectin type III domain (22685 - 22769)

I-set

I-set: Immunoglobulin I-set domain (22797 - 22875)

fn3

fn3: Fibronectin type III domain (22881 - 22961)

fn3

fn3: Fibronectin type III domain (22978 - 23059)

I-set

I-set: Immunoglobulin I-set domain (23077 - 23164)

fn3

fn3: Fibronectin type III domain (23171 - 23251)

fn3

fn3: Fibronectin type III domain (23270 - 23354)

fn3

fn3: Fibronectin type III domain (23367 - 23453)

I-set

I-set: Immunoglobulin I-set domain (23479 - 23560)

fn3

fn3: Fibronectin type III domain (23566 - 23649)

fn3

fn3: Fibronectin type III domain (23665 - 23750)

fn3

fn3: Fibronectin type III domain (23767 - 23850)

I-set

I-set: Immunoglobulin I-set domain (23879 - 23957)

fn3

fn3: Fibronectin type III domain (23962 - 24043)

fn3

fn3: Fibronectin type III domain (24060 - 24140)

I-set

I-set: Immunoglobulin I-set domain (24163 - 24243)

fn3

fn3: Fibronectin type III domain (24252 - 24333)

fn3

fn3: Fibronectin type III domain (24352 - 24436)

fn3

fn3: Fibronectin type III domain (24450 - 24535)

I-set

I-set: Immunoglobulin I-set domain (24560 - 24642)

fn3

fn3: Fibronectin type III domain (24648 - 24731)

fn3

fn3: Fibronectin type III domain (24748 - 24832)

fn3

fn3: Fibronectin type III domain (24849 - 24933)

I-set

I-set: Immunoglobulin I-set domain (24959 - 25039)

fn3

fn3: Fibronectin type III domain (25045 - 25125)

fn3

fn3: Fibronectin type III domain (25141 - 25223)

I-set

I-set: Immunoglobulin I-set domain (25245 - 25328)

fn3

fn3: Fibronectin type III domain (25334 - 25416)

fn3

fn3: Fibronectin type III domain (25434 - 25518)

fn3

fn3: Fibronectin type III domain (25531 - 25617)

I-set

I-set: Immunoglobulin I-set domain (25644 - 25725)

fn3

fn3: Fibronectin type III domain (25731 - 25814)

fn3

fn3: Fibronectin type III domain (25831 - 25915)

fn3

fn3: Fibronectin type III domain (25932 - 26016)

I-set

I-set: Immunoglobulin I-set domain (26042 - 26122)

fn3

fn3: Fibronectin type III domain (26127 - 26208)

fn3

fn3: Fibronectin type III domain (26225 - 26305)

I-set

I-set: Immunoglobulin I-set domain (26324 - 26410)

fn3

fn3: Fibronectin type III domain (26417 - 26500)

fn3

fn3: Fibronectin type III domain (26516 - 26598)

fn3

fn3: Fibronectin type III domain (26613 - 26698)

I-set

I-set: Immunoglobulin I-set domain (26725 - 26806)

fn3

fn3: Fibronectin type III domain (26813 - 26895)

fn3

fn3: Fibronectin type III domain (26911 - 26996)

fn3

fn3: Fibronectin type III domain (27012 - 27096)

I-set

I-set: Immunoglobulin I-set domain (27121 - 27201)

fn3

fn3: Fibronectin type III domain (27207 - 27287)

fn3

fn3: Fibronectin type III domain (27303 - 27384)

I-set

I-set: Immunoglobulin I-set domain (27410 - 27491)

fn3

fn3: Fibronectin type III domain (27499 - 27578)

fn3

fn3: Fibronectin type III domain (27599 - 27683)

fn3

fn3: Fibronectin type III domain (27697 - 27782)

I-set

I-set: Immunoglobulin I-set domain (27808 - 27889)

fn3

fn3: Fibronectin type III domain (27896 - 27978)

fn3

fn3: Fibronectin type III domain (27995 - 28079)

fn3

fn3: Fibronectin type III domain (28096 - 28180)

I-set

I-set: Immunoglobulin I-set domain (28207 - 28289)

fn3

fn3: Fibronectin type III domain (28296 - 28377)

fn3

fn3: Fibronectin type III domain (28391 - 28471)

I-set

I-set: Immunoglobulin I-set domain (28498 - 28568)

fn3

fn3: Fibronectin type III domain (28587 - 28668)

fn3

fn3: Fibronectin type III domain (28686 - 28770)

fn3

fn3: Fibronectin type III domain (28783 - 28868)

I-set

I-set: Immunoglobulin I-set domain (28896 - 28975)

fn3

fn3: Fibronectin type III domain (28984 - 29063)

fn3

fn3: Fibronectin type III domain (29080 - 29166)

fn3

fn3: Fibronectin type III domain (29183 - 29265)

I-set

I-set: Immunoglobulin I-set domain (29292 - 29372)

fn3

fn3: Fibronectin type III domain (29378 - 29460)

fn3

fn3: Fibronectin type III domain (29475 - 29556)

I-set

I-set: Immunoglobulin I-set domain (29583 - 29664)

fn3

fn3: Fibronectin type III domain (29674 - 29751)

fn3

fn3: Fibronectin type III domain (29769 - 29854)

fn3

fn3: Fibronectin type III domain (29867 - 29952)

I-set

I-set: Immunoglobulin I-set domain (29984 - 30064)

fn3

fn3: Fibronectin type III domain (30072 - 30150)

fn3

fn3: Fibronectin type III domain (30169 - 30254)

fn3

fn3: Fibronectin type III domain (30271 - 30356)

I-set

I-set: Immunoglobulin I-set domain (30381 - 30461)

fn3

fn3: Fibronectin type III domain (30470 - 30547)

fn3

fn3: Fibronectin type III domain (30565 - 30647)

I-set

I-set: Immunoglobulin I-set domain (30672 - 30755)

fn3

fn3: Fibronectin type III domain (30762 - 30842)

fn3

fn3: Fibronectin type III domain (30861 - 30945)

fn3

fn3: Fibronectin type III domain (30962 - 31045)

I-set

I-set: Immunoglobulin I-set domain (31073 - 31151)

fn3

fn3: Fibronectin type III domain (31162 - 31238)

fn3

fn3: Fibronectin type III domain (31261 - 31343)

fn3

fn3: Fibronectin type III domain (31359 - 31443)

I-set

I-set: Immunoglobulin I-set domain (31461 - 31547)

I-set

I-set: Immunoglobulin I-set domain (31568 - 31646)

fn3

fn3: Fibronectin type III domain (31652 - 31734)

fn3

fn3: Fibronectin type III domain (31754 - 31838)

I-set

I-set: Immunoglobulin I-set domain (31855 - 31946)

I-set

I-set: Immunoglobulin I-set domain (31963 - 32045)

fn3

fn3: Fibronectin type III domain (32050 - 32133)

Pkinase

Pkinase: Protein kinase domain (32179 - 32432)

I-set

I-set: Immunoglobulin I-set domain (32502 - 32585)

I-set

I-set: Immunoglobulin I-set domain (32617 - 32709)

I-set

I-set: Immunoglobulin I-set domain (32722 - 32812)

I-set

I-set: Immunoglobulin I-set domain (33301 - 33390)

I-set

I-set: Immunoglobulin I-set domain (33489 - 33577)

I-set

I-set: Immunoglobulin I-set domain (33658 - 33732)

I-set

I-set: Immunoglobulin I-set domain (33779 - 33868)

I-set

I-set: Immunoglobulin I-set domain (33968 - 34052)

I-set

I-set: Immunoglobulin I-set domain (34061 - 34150)

I-set

I-set: Immunoglobulin I-set domain (34256 - 34347)

  • 0
  • 5300
  • 10600
  • 15900
  • 21200
  • 26500
  • 34350 a.a.
Protein Preferred Names Protein Names

titin

connectin

Recombinant TTN Proteins

Cat. No. Product Name Accession Purity
HY-P71698 TTN Protein, Human (His) Q8WZ42 (5398V-5604T) ≥95%

Related Diseases

Diseases Alias
Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Hereditary Myopathy With Early Respiratory Failure

Hmerf

Myopathy, Proximal, With Early Respiratory Muscle Involvement

Edstrom Myopathy

Mfm-Titinopathy

MFM9

Mprm

Hereditary Inclusion Body Myopathy With Early Respiratory Failure

Hibm-Erf

Myofibrillar Myopathy-Titinopathy

Myofibrillar Myopathy With Early Respiratory Failure

Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

Myofibrillar Myopathy 9

Myofibrillar Myopathy 9 With Early Respiratory Failure

Autosomal Dominant Distal Myopathy With Early Respiratory Failure

Proximal Myopathy With Early Respiratory Muscle Involvement

Hereditary Proximal Myopathy With Early Respiratory Failure

Admerf

Edström Myopathy

Hmerf-Erf

Salih Myopathy

Early-Onset Myopathy With Fatal Cardiomyopathy

Myopathy, Early-Onset, With Fatal Cardiomyopathy

Eomfc

SALMY

Salih Cmd

Salih Congenital Muscular Dystrophy

Titinopathy & Early-Onset Myopathy With Fatal Cardiomyopathy

Myopathy, Salih

Cardiomyopathy, Dilated, 1g

Dilated Cardiomyopathy 1g

CMD1G

Cardiomyopathy, Dilated 1g

Cardiomyopathy, Dilated, Type 1g

Cardiomyopathy, Familial Hypertrophic, 9

Hypertrophic Cardiomyopathy 9

CMH9

Cardiomyopathy, Familial Hypertrophic 9

Cardiomyopathy, Hypertrophic, Familial, Type 9

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10

Muscular Dystrophy, Limb-Girdle, Type 2j

Lgmd2j

LGMDR10

Titin-Related Limb-Girdle Muscular Dystrophy R10

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd Type 2j

Limb-Girdle Muscular Dystrophy Type 2j

Titin-Related Lgmd R10

Limb-Girdle Muscular Dystrophy 2j

Limb-Girdle Muscular Dystrophy, Type 2j

Dystrophy, Muscular, Limb-Girdle, Type 2j

Tibial Muscular Dystrophy, Tardive

Udd Myopathy

TMD

Tardive Tibial Muscular Dystrophy

Tibial Muscular Dystrophy

Tibial Muscular Dystrophy

Tmd

Udd Myopathy

Distal Titinopathy

Finnish Tibial Muscular Dystrophy

Tardive Tibial Muscular Dystrophy

Udd Type Distal Myopathy

Udd Distal Myopathy

Udd-Markesbery Muscular Dystrophy

Distal Myopathy, Udd Type

Distal Myopathies

Tibial Muscular Dystrophy, Tardive

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Multiminicore Disease

Multiminicore Myopathy

Mmd

Minicore Disease

Minicore Myopathy

Multi-Core Congenital Myopathy

Multi-Core Disease

Multi-Minicore Disease

Multicore Disease

Multicore Myopathy

Minicore Myopathy With External Ophthalmoplegia

Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome
Myopathy

Muscular Diseases

Myopathies

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1

Uhl Anomaly

Arrhythmogenic Right Ventricular Cardiomyopathy 1

Arvc1

ARVD1

Cardiomyopathy Right Ventricular Dilated

Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1

Cardiomyopathy, Dilated 1b

CMD1B

Cmpd1

Cardiomyopathy, Familial Dilated

Fdc

Dilated Cardiomyopathy 1b

Familial Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Third-Degree Atrioventricular Block

Third Degree Atrioventricular Block

Complete Atrioventricular Block

Complete Av Block

Third-Degree Block

Complete Atrioventricular Heart Block

Complete Heart Block

Third Degree Atrioventricular Heart Block

Third Degree Heart Block

Complete Heart Block Nos

Chb - [Complete Heart Block]

Idioventricular Rhythm

Av - [Atrioventricular] Block, Complete

Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Left Ventricular Noncompaction 2

LVNC2

Minicore Myopathy With External Ophthalmoplegia

Multiminicore Disease With External Ophthalmoplegia

Congenital Multicore Myopathy With External Ophthalmoplegia

Minicore Myopathy

Multicore Myopathy With External Ophthalmoplegia

Multicore Myopathy

Multiminicore Myopathy Multicore Myopathy With External Ophthalmoplegia

MMDO

Myopathy, Minicore, External Ophthalmoplegia

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Thymoma

Primary Thymic Epithelial Neoplasm

Primary Thymic Epithelial Tumor

Thymus Neoplasms

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9

Left Ventricular Noncompaction 5

Dilated Cardiomyopathy 1e

Dilated Cardiomyopathy 1s

CMD1E

Cdcd2

Cardiomyopathy, Dilated, 1y

CMD1Y

Cardiomyopathy, Dilated, 1s

CMD1S

Dilated Cardiomyopathy 1y

Dilated Cardiomyopathy With Conduction Defect 2

Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Defect 2

Cardiomyopathy Dilated With Conduction Defect Type 2

Cardiomyopathy, Dilated 1e

Cardiomyopathy, Dilated 1s

Cardiomyopathy, Dilated 1y

Left Ventricular Non-Compaction 5

LVNC5

Left Ventricular Non-Compaction 9

LVNC9

Cardiomyopathy, Dilated, Type 1e

Cardiomyopathy, Dilated, Type 1s

Cardiomyopathy, Dilated, Type 1y

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern

Wpw Syndrome

Anomalous Atrioventricular Excitation

Anomalous A-V Excitation

Ventricular Pre-Excitation With Arrhythmia

WPWS

Ventricular Familial Preexcitation Syndrome

Preexcitation Syndrome

Ventricular Preexcitation

Wpw - [Wolff-Parkinson- White] Syndrome

Pre-Excitation Syndrome

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Miyoshi Muscular Dystrophy

Distal Myopathy

Distal Muscular Dystrophy

Miyoshi Myopathy

Distal Myopathies

Dystrophy, Muscular, Miyoshi

Myopathy, Distal

Distal Muscular Dystrophies

Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart

Scoliosis
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Cortical Thymoma

Polygonal Cell Thymoma

Thymoma, Cortical

Thymoma, Type B2

Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome

Eaton-Lambert Syndrome

Lems

Lambert Eaton Myasthenic Syndrome

Eaton Lambert Syndrome

Lambert Eaton Syndrome

Myasthenic Syndrome Of Lambert-Eaton

Myasthenic-Myopathic Syndrome Of Lambert-Eaton

Lems - [Lambert-Eaton Myasthenic Syndrome]

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Foot Drop
Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Lgmd2i

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i

MDDGC5

Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency

Limb-Girdle Muscular Dystrophy Type 2i

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9

Lgmdr9

Muscular Dystrophy, Limb-Girdle, Type 2i

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related

Fkrp-Related Limb-Girdle Muscular Dystrophy R9

Fkrp-Related Lgmd R9

Lgmd Due To Fkrp Deficiency

Lgmd Type 2i

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related

Muscular Dystrophy Limb-Girdle Type 2i

Muscular Dystrophy-Dystroglycanopathy Type C 5

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5

Dystrophy, Muscular, Limb-Girdle, Type 2i

Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Sick Sinus Syndrome

Sinus Node Dysfunction

Sinus Node Disease

Sinus Node Infection

Snd

Sss

Snd - [Sinus Node Dysfunction]

Sinoatrial Node Dysfunction

Sss - [Sick Sinus Syndrome]

Sick Sinus

Sick Sinus Tachycardia

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Diastolic Heart Failure

Heart Failure, Diastolic

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Muscular Dystrophy, Limb-Girdle, Type 2g

Lgmd2g

LGMDR7

Limb-Girdle Muscular Dystrophy, Type 2g

Telethonin-Related Limb-Girdle Muscular Dystrophy R7

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd Due To Telethonin Deficiency

Lgmd Type 2g

Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

Limb-Girdle Muscular Dystrophy Type 2g

Telethonin-Related Lgmd R7

Limb-Girdle Muscular Dystrophy 2g

Dystrophy, Muscular, Limb-Girdle, Type 2g

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Rhabdomyosarcoma
Uterine Corpus Endometrial Carcinoma
Dendritic Cell Thymoma

Epithelioid Thymoma

Type B Thymoma

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Sarcotubular Myopathy

Lgmd2h

Muscular Dystrophy, Limb-Girdle, Type 2h

Limb-Girdle Muscular Dystrophy Type 2h

LGMDR8

Muscular Dystrophy Hutterite Type

Muscular Dystrophy, Hutterite Type

Muscular Dystrophy Limb-Girdle Type 2h

Trim32-Related Limb-Girdle Muscular Dystrophy R8

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Lgmd Due To Trim32 Deficiency

Lgmd Type 2h

Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

Trim32-Related Lgmd R8

Limb-Girdle Muscular Dystrophy 2h

Dystrophy, Muscular, Limb-Girdle, Type 2h

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Lgmd2e

Muscular Dystrophy, Limb-Girdle, Type 2e

LGMDR4

Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycan-Related Lgmd R4

Beta-Sarcoglycanopathy

Lgmd Due To Beta-Sarcoglycan Deficiency

Lgmd Type 2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Limb-Girdle Muscular Dystrophy Type 2e

Limb-Girdle Muscular Dystrophy 2e

Pulmonary Interstitial Emphysema
Limb-Girdle Muscular Dystrophy Type 1a

Lgmd1a

Lgmd1

Muscular Dystrophy, Proximal, Type 1a

Limb-Girdle Muscular Dystrophy, Type 1a

Dystrophy, Muscular, Limb-Girdle, Type 1a

Peripartum Cardiomyopathy

Postpartum Cardiomyopathy

Peripartum Cardiomyopathy, Susceptibility To

Ppcm

Ppcm, Susceptibility To

Antepartum Peripartum Cardiomyopathy

Postpartum Peripartum Cardiomyopathy

Meadows' Syndrome

Cardiomyopathy, Peripartum

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Lgmd2f

Muscular Dystrophy, Limb-Girdle, Type 2f

Limb-Girdle Muscular Dystrophy Type 2f

LGMDR6

Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency

Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Delta-Sarcoglycan-Related Lgmd R6

Delta-Sarcoglycanopathy

Lgmd Due To Delta-Sarcoglycan Deficiency

Lgmd Type 2f

Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency

Limb-Girdle Muscular Dystrophy 2f

Limb-Girdle Muscular Dystrophy, Type 2f

Dystrophy, Muscular, Limb-Girdle, Type 2f

Alcoholic Cardiomyopathy

Cardiomyopathy, Alcoholic

Alcohol-Induced Heart Muscle Disease

Dilated Cardiomyopathy Secondary To Alcohol

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g

Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2g

Thymus Gland Disease

Disease Of Thymus Gland

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Leyden-Moebius Muscular Dystrophy

Lgmd2a

Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2a

Pelvofemoral Muscular Dystrophy

Primary Calpainopathy

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Intrinsic Cardiomyopathy
Axonal Neuropathy
Cardiomyopathy, Dilated, 1dd

Dilated Cardiomyopathy 1dd

CMD1DD

Cardiomyopathy, Dilated 1dd

Cardiomyopathy, Dilated, Type 1dd

Thymus Cancer

Thymic Neoplasm

Thymic Tumor

Thymus Neoplasm

Thymus Neoplasms

Malignant Neoplasm Of Thymus

Neoplasm Of Thymus

Thymic Neoplasms

Thymoma, Familial

Thymic Carcinoma

Thymoma, Type C

Cancer Of Thymus

Malignant Tumour Of Thymus

Primary Malignant Neoplasm Of Thymus

Thymic Glandular Cancer

Thymus Gland Cancer

Systolic Heart Failure

Heart Failure, Systolic

Myopathy, Distal, 1

Laing Distal Myopathy

Laing Early-Onset Distal Myopathy

MPD1

Distal Myopathy 1

Myopathy, Distal, Early-Onset, Autosomal Dominant

Distal Myopathy Type 1

Gowers Disease

Myopathy, Late Distal Hereditary

Myopathy Distal, Type 1

Myopathy Distal Early-Onset Autosomal Dominant

Myopathy Late Distal Hereditary

Myopathy, Distal, Type 1

Welander Distal Myopathy

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Epithelial Malignant Thymoma

Squamoid Thymoma

Thymoma, Epithelial

Well Differentiated Thymic Carcinoma

Thymoma, Type B3

Bilateral Hypoactive Labyrinth

Hypoactive Bilateral Labyrinthine Dysfunction

Hypoactive Labyrinth, Bilateral

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy

Desmin-Related Myopathy

MFM1

Myopathy, Myofibrillar, Desmin-Related

Drm

Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Myofibrillar Myopathy 1

Desminopathy

Muscular Dystrophy, Limb-Girdle, Type 2r

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

Desminopathy, Primary

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

Arvd7, Formerly

Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

Arvc7, Formerly

Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

Ibm1, Formerly

Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

Cmd1f And Lgmd1d, Formerly

Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

Cdcd3, Formerly

Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

Lgmd2r, Formerly

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Arrhythmogenic Right Ventricular Cardiomyopathy 7

Arvc7

Arvd7

Autosomal Dominant Inclusion Body Myopathy 1

Cdcd3

Cmd1f And Lgmd1d

Desminopathy Primary

Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

Familial Arrhythmogenic Right Ventricular Dysplasia 7

Lgmd2r

Limb-Girdle Muscular Dystrophy 2r

Mfm Desmin-Related

Myopathy Myofibrillar Desmin-Related

Dystrophy, Muscular, Limb-Girdle, Type 2r

First-Degree Atrioventricular Block

First Degree Atrioventricular Block

First Degree Heart Block

Incomplete Atrioventricular Block, First Degree

First Degree Atrioventricular Heart Block

Meconium Aspiration Syndrome

Neonatal Aspiration Of Meconium

Meconium Aspiration

Mas

Meconium Aspiration Syndrome Of Newborn

Meconium Inhalation

Mas - [Meconium Aspiration Syndrome]

Meconium Aspiration Nos

Meconium Aspiration Syndrome Nos

Meconium Pneumonitis

Meconium Stained Liqueur Aspiration

Hyaline Body Myopathy

Myosin Storage Myopathy

Autosomal Dominant Hyaline Body Myopathy

Myopathy, Myosin Storage

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Constrictive Pericarditis

Pericarditis, Constrictive

Pericarditis Constrictive

Pericarditis Calculosa

Hutinel-Pick Syndrome

Chronic Tamponade

Chronic Pericardial Constriction

Pick Syndrome Of Heart

Pick Disease Of Heart

Concretio Cordis

Calcareous Pericarditis

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4

CMH4

Cardiomyopathy, Hypertrophic, 4

Cardiomyopathy, Familial Hypertrophic 4

Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To

Cardiomyopathy, Hypertrophic, Familial, Type 4

Inner Ear Disease

Labyrinthine Dysfunction

Diseases Of Inner Ear

Labyrinthine Disease

Abnormality Of The Inner Ear

Labyrinth Diseases

Labyrinthine Disorder

Nonfunctioning Labyrinth

Labyrinthine Loss Of Function

Labyrinthine Syndrome

Labyrinthine Disorder Nos

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Myopathy, Myofibrillar, 3

Myotilinopathy

Myofibrillar Myopathy 3

MFM3

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

Lgmd1a

Muscular Dystrophy, Limb-Girdle, Type 1a

Myopathy, Myofibrillar, Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1, Formerly

Lgmd1, Formerly

Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

Lgmd1a, Formerly

Qualitative Or Quantitative Defects Of Myotilin

Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency

Distal Myotilinopathy

Lgmd1

Limb-Girdle Muscular Dystrophy 1a

Mfm Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1

Myopathy Myofibrillar Myotylin-Related

Myopathy, Myofibrillar, Type 3

Newborn Respiratory Distress Syndrome

Hyaline Membrane Disease

Respiratory Distress Syndrome Of Newborn

Neonatal Respiratory Distress

Hmd - Hyaline Membrane Disease

Neonatal Respiratory Distress Syndrome

Pulmonary Hyaline Membrane Disease

Pulmonary Hypoperfusion Syndrome Of Newborn

Respiratory Distress Syndrome, Newborn

Respiratory Distress Syndrome

Cardiorespiratory Distress Syndrome Of Newborn

Distress Respiratory Syndrome Newborn

Idiopathic Respiratory Distress Syndrome

Idiopathic Respiratory Distress Syndrome Of Newborn

Newborn Idiopathic Respiratory Distress Syndrome

Respiratory Distress Syndrome In Newborn

Rds - [Respiratory Distress Syndrome] Of Newborn

Newborn Cardiorespiratory Distress Syndrome

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Myopathy, Myofibrillar, 2

Alpha-B Crystallinopathy

Myofibrillar Myopathy 2

MFM2

Myopathy, Myofibrillar, Alpha-B Crystallin-Related

Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene

Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy

Alpha-B Crystallin-Related Late-Onset Myopathy

Alpha-B Crystallin-Related Late-Onset Distal Myopathy

Late-Onset Distal Crystallinopathy

Alpha-B Crystallinopathy With Cataract

Desmin-Related Myopathy With Cataract

Mfm Alpha-B Crystallin-Related

Myofibrillar Myopathy Alpha-B Crystallin-Related

Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy

Myopathy Cardioskeletal Desmin-Related With Cataract

Myopathy Desmin-Related Associated With Mutation In The Cryab Gene

Myopathy, Cardioskeletal, Desmin-Related, With Cataract

Myopathy, Myofibrillar, Type 2

Hypertensive Heart Disease
Congenital Structural Myopathy
Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4

MFM4

Zaspopathy

Myopathy, Myofibrillar, Zasp-Related

Myopathy, Myofibrillar, 5

Myofibrillar Myopathy 5

MFM5

Myopathy, Myofibrillar, Filamin C-Related

Filaminopathy, Autosomal Dominant

Filaminopathy

Muscle Filaminopathy

Autosomal Dominant Filaminopathy

Mfm Filamin C-Related

Myopathy Myofibrillar Filamin C-Related

Myopathy, Myofibrillar, Type 5

Muscle Tissue Disease
Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Cardiac Sarcoidosis
Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Ebstein Anomaly

Ebstein'S Anomaly

Ebstein'S Anomaly Of Common Atrioventricular Valve

Ebstein'S Anomaly Of Right Atrioventricular Valve

Ebstein'S Anomaly Of Tricuspid Valve

Ebstein'S Malformation

Ebstein Malformation Of The Tricuspid Valve

Ebstein Anomaly Of The Tricuspid Valve

Ebstein Disease

Accessory Tricuspid Valve Tissue

Congenital Ebstein Deformity Of Tricuspid Valve

Ebstein Syndrome

Ebstein Cardiopathy

Ebstein Anomaly Of Tricuspid Valve

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy

Xlmtm

X-Linked Centronuclear Myopathy

Xlcnm

CNMX

Mtm1

Myotubular Myopathy, X-Linked

Mtmx

Myotubular Myopathy 1

Centronuclear Myopathy X-Linked

Myotubular Myopathy

Mtm

Cnm

Xmtm

Myotubular Myopathy Type 1

Mitral Valve Disease

Chronic Rheumatic Mitral Valve

Rheumatic Mitral Insufficiency

Disease Of Mitral Valve

Mitral Rh Valve Dis.

Rheumatic Disease Of Mitral Valve

Rheumatic Mitral Valve Changes

Rheumatic Mitral Valve Incompetence

Rheumatic Mitral Valve Regurgitation

Abnormality Of The Mitral Valve

Diseases Of Mitral Valve

Rheumatic Mitral Regurgitation

Mitral Valve Insufficiency

Mitral Regurgitation

Congenital Insufficiency Of Mitral Valve

Congenital Mitral Insufficiency

Congenital Mitral Regurgitation

Mitral Valve Incompetence

Mitral Valve Regurgitation

Mr - [Mitral Regurgitation]

Mi - [Mitral Incompetence]

Mitral Valve Annular Incompetency

Congenital Mitral Valve Incompetence

Congenital Mitral Valve Insufficiency

Congenital Mitral Valve Regurgitation

Congenital Mitral Incompetence

Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy

BMD

Benign Pseudohypertrophic Muscular Dystrophy

Benign Congenital Myopathy

Becker Dystrophinopathy

Becker'S Muscular Dystrophy

Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Becker

Dystrophy, Muscular, Becker Type

Dystrophinopathy

Becker Dystrophy

Becker Type Dystrophy

Bmd - [Becker Muscular Dystrophy]

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Muscular Disease
Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]

Tricuspid Valve Disease

Rheumatic Tricuspid Valve Disease

Disease Of Tricuspid Valve

Rh. Tricuspid Valve Disease

Rheumatic Disease Of Tricuspid Valve

Tricuspid Disease

Tricuspid Valve Disorder

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Extrinsic Cardiomyopathy
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis

Heart Valve Disease

Heart Valve Diseases

Valvular Heart Disease

Valvular Heart Diseases

Heart Valve Prolapse

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

AOVD2

Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Cardiac Tuberculosis

Tuberculosis, Cardiovascular

Cardiovascular Tuberculosis

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Mitochondrial Dna Depletion Syndrome 12b
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Bethlem Myopathy 1

Bethlem Myopathy

Myopathy, Benign Congenital, With Contractures

Muscular Dystrophy, Benign Congenital

BTHLM1

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Lgmdd5

Benign Congenital Muscular Dystrophy

Benign Autosomal Dominant Myopathy

Myopathy, Bethlem

Myopathy, Bethlem, Type 1

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris TTN VGNC VGNC:53109
Bos taurus TTN VGNC VGNC:56153
Rattus norvegicus TTN RGD RGD:621114
Mus musculus TTN MGD MGI:98864
Others TTN NCBI