HGNC:3551, ENTREZ:2158

F9

ENSG00000101981

released

factor 9, plasma thromboplastin component, Christmas factor, THPH8, coagulation factor IX, plasma thromboplastic component, F9 p22, FIX, factor IX F9, HEMB, P19, PTC

F9 (Homo sapiens)

ff7311b5-92bd-450d-94f4-38565d634f7c

ENTREZ:79188, HGNC:28472

TMEM43

ENSG00000170876

released

LUMA, transmembrane protein 43, ARVD5, EDMD7; AUNA2, AUNA3, ARVC5, EDMD7

TMEM43 (Homo sapiens)

fdca7578-61f3-4b7e-aa10-0f06f1130ea1

ENTREZ:580, HGNC:952

BARD1

ENSG00000138376

released

BRCA1-associated RING domain gene 1, RING-type E3 ubiquitin transferase BARD1, BRCA1-associated RING domain protein 1

BARD1 (Homo sapiens)

fab2d562-b66f-479a-88fd-cdc293fee8ad

HGNC:7329, ENTREZ:2956

MSH6

ENSG00000116062

released

GTMBP, MMRCS3, HNPCC5, sperm-associated protein, mutS protein homolog 6, G/T mismatch-binding protein, mutS-alpha 160 kDa subunit, GTBP, mutS-like protein 6, DNA mismatch repair protein Msh6, HSAP, MSH-6, p160, LYNCH5

MSH6 (Homo sapiens)

fa758b6a-957d-4e5d-8ef9-9d459cf98f99

ENTREZ:79728, HGNC:26144

PALB2

ENSG00000083093

released

partner and localizer of BRCA2, PNCA3, mutant partner and localizer of BRCA2, FANCN

PALB2 (Homo sapiens)

f8af5470-d7b8-4d74-aadb-c29efb2ab364

ENTREZ:10345, HGNC:12261

TRDN

ENSG00000186439

released

TDN, triadin, CPVT5, triadin in skeletal muscle, TRISK, CARDAR

TRDN (Homo sapiens)

f8a7b2cf-03b1-45ce-9a7b-e81c29251e5a

ENTREZ:4625, HGNC:7577

MYH7

ENSG00000092054

released

cardiac muscle myosin heavy chain 7 beta, rhabdomyosarcoma antigen MU-RMS-40.7A, CMD1S, CMYP7B, myosin-7, myosin heavy chain beta-subunit, myosin, heavy polypeptide 7, cardiac muscle, beta, SPMD, CMYP7A, MPD1, myosin, heavy chain 7, cardiac muscle, beta, SPMM, myhc-slow, CMH1, myHC-beta, myosin 7, MYHCB

MYH7 (Homo sapiens)

f82a279b-397b-4f9e-abfe-df1a3132047a

HGNC:9884, ENTREZ:5925

RB1

ENSG00000139687

released

PPP1R130, retinoblastoma suspectibility protein, pp110, prepro-retinoblastoma-associated protein, pRb, RB, p105-Rb, retinoblastoma 1, retinoblastoma-associated protein, p110-RB1, OSRC, protein phosphatase 1, regulatory subunit 130

RB1 (Homo sapiens)

f7fa43b9-818e-4948-9064-a4ae5423016d

HGNC:4296, ENTREZ:2717

GLA

ENSG00000102393

released

GALA, galactosylgalactosylglucosylceramidase GLA, alpha-galactosidase A, agalsidase alfa, alpha-D-galactoside galactohydrolase 1, melibiase, alpha-D-galactosidase A, alpha-gal A

GLA (Homo sapiens)

f40540fc-4af1-44a9-b95e-923f3124dd4f

ENTREZ:255738, HGNC:20001

PCSK9

ENSG00000169174

released

proprotein convertase subtilisin/kexin type 9, convertase subtilisin/kexin type 9 preproprotein, FHCL3, NARC1, PC9, NARC-1, subtilisin/kexin-like protease PC9, HCHOLA3, LDLCQ1, FH3, neural apoptosis regulated convertase 1

PCSK9 (Homo sapiens)

eea2ed6a-1687-4dba-a9a3-ac2742902201

HGNC:3049, ENTREZ:1829

DSG2

ENSG00000046604

released

cadherin family member 5, CDHF5, HDGC, desmoglein-2

DSG2 (Homo sapiens)

ea96e42e-5826-4517-9e3f-046dc9c1be23

ENTREZ:84433, HGNC:16393

CARD11

ENSG00000198286

released

BENTA, PPBL, bcl10-interacting maguk protein 3, CARMA1, IMD11, BIMP3, caspase recruitment domain-containing protein 11, CARD-containing MAGUK protein 1, IMD11A, carma 1

CARD11 (Homo sapiens)

e3c04235-f206-4480-99c0-7aa087b8e65c

HGNC:7773, ENTREZ:4771

NF2

ENSG00000186575

released

moesin-ezrin-radixin-like protein, moesin-ezrin-radixin like, schwannomerlin, BANF, schwannomin, moesin-ezrin-radizin-like protein, merlin-1, neurofibromin-2, merlin, bilateral acoustic neurofibromatosis, ACN, SCH, neurofibromin 2 (bilateral acoustic neuroma)

NF2 (Homo sapiens)

df50200a-9394-4abc-8edb-c16f0f980308

ENTREZ:2318, HGNC:3756

FLNC

ENSG00000128591

released

ABPA, ABPL, MPD4, CMH26, actin binding protein 280, ABP-280-like protein, FLN2, filamin-C, ABP280A, MFM5, ABP-280, RCM5, filamin C, gamma, filamin-2, ABP-L, gamma filamin, gamma filamin

FLNC (Homo sapiens)

dd62b26d-8169-4ad7-8d80-11d34e3d178b

ENTREZ:7134, HGNC:11943

TNNC1

ENSG00000114854

released

troponin C type 1 (slow), TN-C, TNNC, CMD1Z, troponin C, slow skeletal and cardiac muscles, slow twitch skeletal/cardiac muscle troponin C, CMH13, TNC, cardiac troponin C

TNNC1 (Homo sapiens)

dc47455b-d301-45cf-8d6c-d3339d29011c

HGNC:2621, ENTREZ:1557

CYP2C19

ENSG00000165841

released

cytochrome P-450 II C, mephenytoin 4'-hydroxylase, P450C2C, CPCJ, mephenytoin 4-hydroxylase, CYPIIC17, (S)-limonene 6-monooxygenase, microsomal monooxygenase, cytochrome P450, family 2, subfamily C, polypeptide 19, P450IIC19, (S)-limonene 7-monooxygenase, cytochrome P450 2C19, flavoprotein-linked monooxygenase, (R)-limonene 6-monooxygenase, xenobiotic monooxygenase, fenbendazole monooxygenase (4'-hydroxylating), S-mephenytoin 4-hydroxylase, CYPIIC19, cytochrome P450-254C, cytochrome P450-11A, CYP2C, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19

CYP2C19 (Homo sapiens)

dc20c994-ba5a-4782-89a0-331f6ac20f62

ENTREZ:79595, HGNC:29813

SAP130

ENSG00000136715

released

Sin3-associated polypeptide p130, Sin3A associated protein 130kDa, histone deacetylase complex subunit SAP130, 130 kDa Sin3-associated polypeptide

SAP130 (Homo sapiens)

d244da52-57b3-4aed-9eb4-99706c3334b6

HGNC:10682, ENTREZ:6391

SDHC

ENSG00000143252

released

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD, PGL3, CYB560, large subunit of cytochrome b, succinate dehydrogenase 3, integral membrane subunit, SDH3, succinate dehydrogenase complex subunit C integral membrane protein 15kDa, CYBL, QPS1, integral membrane protein CII-3b, succinate dehydrgenase cytochrome b, succinate-ubiquinone oxidoreductase cytochrome B large subunit, cytochrome B large subunit of complex II, succinate dehydrogenase cytochrome b560 subunit, mitochondrial

SDHC (Homo sapiens)

d1e75d68-8002-4a78-b9f2-4e4852da617b

HGNC:870, ENTREZ:540

ATP7B

ENSG00000123191

released

WC1, ATPase, Cu++ transporting, beta polypeptide, WND, copper pump 2, Wilson disease-associated protein, WD, copper-transporting ATPase 2, PWD, ATPase, Cu(2+)- transporting, beta polypeptide, copper-transporting protein ATP7B

ATP7B (Homo sapiens)

d014a5f2-6b53-42e2-9557-d550af0c4fab

ENTREZ:324, HGNC:583

APC

ENSG00000134982

released

adenomatous polyposis coli protein, adenomatous polyposis coli (APC), BTPS2, DESMD, epididymis secretory sperm binding protein, adenomatosis polyposis coli tumor suppressor, DP2, PPP1R46, GS, WNT signaling pathway regulator, DP2.5, deleted in polyposis 2.5, DP3, protein phosphatase 1, regulatory subunit 46, APC, WNT signaling pathway regulator

APC (Homo sapiens)

cecf1534-4af6-4000-93b5-000b7bbc81bc

HGNC:9024, ENTREZ:5318

PKP2

ENSG00000057294

released

ARVD9, plakophilin-2

PKP2 (Homo sapiens)

ce8a3a15-9863-4bee-b47e-b34a084f9dd2

ENTREZ:7048, HGNC:11773

TGFBR2

ENSG00000163513

released

FAA3, TGFR-2, transforming growth factor beta receptor type IIC, transforming growth factor, beta receptor II beta, TBRII, transforming growth factor beta receptor II, LDS1B, AAT3, RIIC, TGF-beta type II receptor, transforming growth factor, beta receptor II delta, LDS2, transforming growth factor, beta receptor II epsilon, transforming growth factor, beta receptor II gamma, TGFbeta-RII, transforming growth factor, beta receptor II (70/80kDa), MFS2, LDS2B, tbetaR-II, transforming growth factor, beta receptor II alpha, TAAD2, TBR-ii, TGF-beta receptor type-2, TGF-beta receptor type IIB

TGFBR2 (Homo sapiens)

cb09338e-365c-4af5-88fd-a40502222430

HGNC:21062, ENTREZ:10667

FARS2

ENSG00000145982

released

phenylalanine tRNA ligase 2, mitochondrial, mitochondrial PHERS, HSPC320, phenylalanine translase, phenylalanine--tRNA ligase, mitochondrial, mtPheRS, PheRS, dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase)), phenylalanine-tRNA synthetase 1 (mitochondrial), COXPD14, SPG77, dJ236A3.1 (phenylalanine-tRNA synthetase), FARS1

FARS2 (Homo sapiens)

c02ed300-39bf-4a42-b954-65427c4dc763

HGNC:1076, ENTREZ:657

BMPR1A

ENSG00000107779

released

ALK-3, activin A receptor, type II-like kinase 3, ACVRLK3, BMP type-1A receptor, BMPR-1A, activin receptor-like kinase 3, SKR5, bone morphogenetic protein receptor, type IA, bone morphogenetic protein receptor type-1A, serine/threonine-protein kinase receptor R5, CD292, ALK3, 10q23del

BMPR1A (Homo sapiens)

bbb6a5fa-d62a-48c7-a97d-0f6c0202ddb1

HGNC:939, ENTREZ:9531

BAG3

ENSG00000151929

released

Bcl-2-binding protein BIS transcript 2, docking protein CAIR-1, BAG family molecular chaperone regulator 3, BAG-3, CAIR-1, BCL2 associated athanogene 3, MFM6, bcl-2-binding protein Bis, BCL2-binding athanogene 3, BIS

BAG3 (Homo sapiens)

ba72dfae-c92d-490f-a69c-47b1ec812e7b