HGNC:3551, ENTREZ:2158

F9

ENSG00000101981

released

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

F9 (Homo sapiens)

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

ENTREZ:79188, HGNC:28472

TMEM43

ENSG00000170876

released

ARVC5, TMEM43, EDMD7; AUNA2, AUNA3, ARVD5, EDMD7, transmembrane protein 43, LUMA

TMEM43 (Homo sapiens)

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

ENTREZ:580, HGNC:952

BARD1

ENSG00000138376

released

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

BARD1 (Homo sapiens)

fab2d562-b66f-479a-88fd-cdc293fee8ad

HGNC:7329, ENTREZ:2956

MSH6

ENSG00000116062

released

mutS protein homolog 6, HSAP, GTMBP, MSH6, DNA mismatch repair protein Msh6, mutS homolog 6, HNPCC5, mutS-like protein 6, sperm-associated protein, GTBP, MSH-6, G/T mismatch-binding protein, LYNCH5, mutS-alpha 160 kDa subunit, MMRCS3, p160

MSH6 (Homo sapiens)

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

ENTREZ:79728, HGNC:26144

PALB2

ENSG00000083093

released

FANCN, PALB2, partner and localizer of BRCA2, BROVCA5, PNCA3, mutant partner and localizer of BRCA2

PALB2 (Homo sapiens)

f8af5470-d7b8-4d74-aadb-c29efb2ab364

ENTREZ:10345, HGNC:12261

TRDN

ENSG00000186439

released

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

TRDN (Homo sapiens)

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

ENTREZ:4625, HGNC:7577

MYH7

ENSG00000092054

released

CMYP7B, MYH7, myosin 7, myosin, heavy chain 7, cardiac muscle, beta, rhabdomyosarcoma antigen MU-RMS-40.7A, MYHCB, CMD1S, SPMD, myosin, heavy polypeptide 7, cardiac muscle, beta, myosin heavy chain beta-subunit, cardiac muscle myosin heavy chain 7 beta, CMH1, myHC-beta, CMYP7A, SPMM, myosin heavy chain 7, myosin-7, myhc-slow, MPD1

MYH7 (Homo sapiens)

f82a279b-397b-4f9e-abfe-df1a3132047a

HGNC:9884, ENTREZ:5925

RB1

ENSG00000139687

released

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

RB1 (Homo sapiens)

f7fa43b9-818e-4948-9064-a4ae5423016d

HGNC:4296, ENTREZ:2717

GLA

ENSG00000102393

released

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

GLA (Homo sapiens)

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

ENTREZ:255738, HGNC:20001

PCSK9

ENSG00000169174

released

HCHOLA3, NARC-1, FH3, subtilisin/kexin-like protease PC9, PCSK9, LDLCQ1, neural apoptosis regulated convertase 1, NARC1, proprotein convertase subtilisin/kexin type 9, convertase subtilisin/kexin type 9 preproprotein, PC9, FHCL3

PCSK9 (Homo sapiens)

eea2ed6a-1687-4dba-a9a3-ac2742902201

HGNC:3049, ENTREZ:1829

DSG2

ENSG00000046604

released

HDGC, desmoglein-2, desmoglein 2, DSG2, cadherin family member 5, CDHF5

DSG2 (Homo sapiens)

ea96e42e-5826-4517-9e3f-046dc9c1be23

ENTREZ:84433, HGNC:16393

CARD11

ENSG00000198286

released

PPBL, CARD11, BIMP3, carma 1, caspase recruitment domain family member 11, CARMA1, caspase recruitment domain-containing protein 11, CARD-containing MAGUK protein 1, bcl10-interacting maguk protein 3, IMD11A, IMD11, BENTA

CARD11 (Homo sapiens)

e3c04235-f206-4480-99c0-7aa087b8e65c

HGNC:7773, ENTREZ:4771

NF2

ENSG00000186575

released

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor, moesin-ezrin-radizin-like protein, NF2, bilateral acoustic neurofibromatosis, schwannomin, neurofibromin-2, ACN, schwannomerlin, SWNV, merlin, moesin-ezrin-radixin-like protein, neurofibromin 2 (bilateral acoustic neuroma), SCH, moesin-ezrin-radixin like, merlin-1, BANF

NF2 (Homo sapiens)

df50200a-9394-4abc-8edb-c16f0f980308

ENTREZ:2318, HGNC:3756

FLNC

ENSG00000128591

released

filamin C, gamma, filamin-C, ABP280A, actin binding protein 280, FLNC, CMH26, MFM5, gamma filamin, filamin-2, filamin C, ABP-L, gamma filamin, ABPA, ARVC15, ABP-280, RCM5, MPD4, ABP-280-like protein, FLN2, ABPL

FLNC (Homo sapiens)

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

ENTREZ:7134, HGNC:11943

TNNC1

ENSG00000114854

released

slow twitch skeletal/cardiac muscle troponin C, troponin C, slow skeletal and cardiac muscles, TNNC, TNNC1, cardiac troponin C, CMD1Z, TN-C, troponin C type 1 (slow), TNC, CMH13, troponin C1, slow skeletal and cardiac type

TNNC1 (Homo sapiens)

dc47455b-d301-45cf-8d6c-d3339d29011c

HGNC:2621, ENTREZ:1557

CYP2C19

ENSG00000165841

released

cytochrome P450, family 2, subfamily C, polypeptide 19, P450C2C, (R)-limonene 6-monooxygenase, CYPIIC17, cytochrome P-450 II C, cytochrome P450-11A, xenobiotic monooxygenase, CYP2C19, CYPIIC19, mephenytoin 4'-hydroxylase, CYP2C, (S)-limonene 6-monooxygenase, (S)-limonene 7-monooxygenase, S-mephenytoin 4-hydroxylase, mephenytoin 4-hydroxylase, fenbendazole monooxygenase (4'-hydroxylating), P450IIC19, CPCJ, microsomal monooxygenase, cytochrome P450 family 2 subfamily C member 19, flavoprotein-linked monooxygenase, cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19, cytochrome P450 2C19, cytochrome P450-254C

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, SAP130, Sin3A associated protein 130, 130 kDa Sin3-associated polypeptide

SAP130 (Homo sapiens)

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

HGNC:10682, ENTREZ:6391

SDHC

ENSG00000143252

released

SDHC, large subunit of cytochrome b, succinate dehydrogenase cytochrome b560 subunit, mitochondrial, QPS1, succinate-ubiquinone oxidoreductase cytochrome B large subunit, SDH3, succinate dehydrgenase cytochrome b, succinate dehydrogenase 3, integral membrane subunit, succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD, integral membrane protein CII-3b, succinate dehydrogenase complex subunit C integral membrane protein 15kDa, cytochrome B large subunit of complex II, succinate dehydrogenase complex subunit C, CYBL, PGL3, PPGL3, CYB560

SDHC (Homo sapiens)

d1e75d68-8002-4a78-b9f2-4e4852da617b

HGNC:870, ENTREZ:540

ATP7B

ENSG00000123191

released

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

ATP7B (Homo sapiens)

d014a5f2-6b53-42e2-9557-d550af0c4fab

ENTREZ:324, HGNC:583

APC

ENSG00000134982

released

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

APC (Homo sapiens)

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

HGNC:9024, ENTREZ:5318

PKP2

ENSG00000057294

released

plakophilin-2, PKP2, ARVD9, plakophilin 2

PKP2 (Homo sapiens)

ce8a3a15-9863-4bee-b47e-b34a084f9dd2

ENTREZ:7048, HGNC:11773

TGFBR2

ENSG00000163513

released

LDS2B, transforming growth factor, beta receptor II (70/80kDa), TGF-beta receptor type IIB, TGFBR2, transforming growth factor beta receptor type IIC, transforming growth factor, beta receptor II delta, TGFR-2, transforming growth factor beta receptor II, TBRII, TGF-beta receptor type-2, LDS1B, transforming growth factor, beta receptor II epsilon, FAA3, TAAD2, transforming growth factor, beta receptor II gamma, MFS2, RIIC, TGFbeta-RII, AAT3, transforming growth factor, beta receptor II alpha, TGF-beta type II receptor, transforming growth factor, beta receptor II beta, transforming growth factor beta receptor 2, tbetaR-II, LDS2, TBR-ii

TGFBR2 (Homo sapiens)

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

HGNC:21062, ENTREZ:10667

FARS2

ENSG00000145982

released

phenylalanine translase, dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase)), mitochondrial PHERS, SPG77, phenylalanine tRNA ligase 2, mitochondrial, HSPC320, COXPD14, dJ236A3.1 (phenylalanine-tRNA synthetase), FARS1, phenylalanine-tRNA synthetase 1 (mitochondrial), FARS2, phenylalanine--tRNA ligase, mitochondrial, mtPheRS, phenylalanyl-tRNA synthetase 2, mitochondrial, PheRS

FARS2 (Homo sapiens)

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

HGNC:1076, ENTREZ:657

BMPR1A

ENSG00000107779

released

BMPR1A, ALK-3, bone morphogenetic protein receptor type-1A, serine/threonine-protein kinase receptor R5, activin receptor-like kinase 3, CD292, BMP type-1A receptor, activin A receptor, type II-like kinase 3, SKR5, 10q23del, ALK3, ACVRLK3, BMPR-1A, bone morphogenetic protein receptor type 1A, bone morphogenetic protein receptor, type IA

BMPR1A (Homo sapiens)

bbb6a5fa-d62a-48c7-a97d-0f6c0202ddb1

HGNC:939, ENTREZ:9531

BAG3

ENSG00000151929

released

MFM6, Bcl-2-binding protein BIS transcript 2, bcl-2-binding protein Bis, BCL2-binding athanogene 3, BAG3, BCL2 associated athanogene 3, docking protein CAIR-1, BAG family molecular chaperone regulator 3, CAIR-1, BAG cochaperone 3, BIS, BAG-3

BAG3 (Homo sapiens)

ba72dfae-c92d-490f-a69c-47b1ec812e7b