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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 23000

FusionGeneSummary for MYH9_CACNA1C

check button Fusion gene summary
Fusion gene informationFusion gene name: MYH9_CACNA1C
Fusion gene ID: 23000
HgeneTgene
Gene symbol

MYH9

CACNA1C

Gene ID

4627

775

Gene namemyosin heavy chain 9calcium voltage-gated channel subunit alpha1 C
SynonymsBDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCACACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS
Cytomap

22q12.3

12p13.33

Type of geneprotein-codingprotein-coding
Descriptionmyosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-Avoltage-dependent L-type calcium channel subunit alpha-1CDHPR, alpha-1 subunitcalcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac musclecalcium channel, cardic dihydropyridine-sensitive, alpha-1 subunitcalcium channel, voltage-dependent,
Modification date2018052220180523
UniProtAcc

P35579

Q13936

Ensembl transtripts involved in fusion geneENST00000216181, ENST00000475726, 
ENST00000401701, 
ENST00000335762, 
ENST00000399655, ENST00000480911, 
ENST00000399644, ENST00000344100, 
ENST00000399638, ENST00000399629, 
ENST00000399597, ENST00000327702, 
ENST00000399621, ENST00000399649, 
ENST00000399637, ENST00000402845, 
ENST00000399591, ENST00000399641, 
ENST00000347598, ENST00000399606, 
ENST00000399595, ENST00000399601, 
ENST00000399603, ENST00000399634, 
ENST00000399617, ENST00000406454, 
ENST00000491104, 
Fusion gene scores* DoF score36 X 33 X 15=1782015 X 14 X 8=1680
# samples 5017
** MAII scorelog2(50/17820*10)=-5.1554254317472
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1680*10)=-3.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYH9 [Title/Abstract] AND CACNA1C [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMYH9

GO:0001525

angiogenesis

16403913

HgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

HgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

HgeneMYH9

GO:0031032

actomyosin structure organization

24072716

TgeneCACNA1C

GO:0007204

positive regulation of cytosolic calcium ion concentration

12130699

TgeneCACNA1C

GO:0061577

calcium ion transmembrane transport via high voltage-gated calcium channel

15454078

TgeneCACNA1C

GO:0070588

calcium ion transmembrane transport

15454078


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLAMLTCGA-AB-2943-03AMYH9chr22

36783852

-CACNA1Cchr12

2224390

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000216181ENST00000335762MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399655MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000480911MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399644MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000344100MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399638MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399629MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399597MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000327702MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399621MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399649MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399637MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000402845MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399591MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399641MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000347598MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399606MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399595MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399601MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399603MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399634MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000399617MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-3CDSENST00000216181ENST00000406454MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
5UTR-intronENST00000216181ENST00000491104MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000335762MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399655MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000480911MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399644MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000344100MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399638MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399629MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399597MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000327702MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399621MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399649MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399637MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000402845MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399591MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399641MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000347598MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399606MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399595MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399601MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399603MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399634MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000399617MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000475726ENST00000406454MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-intronENST00000475726ENST00000491104MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000335762MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399655MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000480911MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399644MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000344100MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399638MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399629MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399597MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000327702MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399621MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399649MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399637MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000402845MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399591MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399641MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000347598MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399606MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399595MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399601MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399603MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399634MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000399617MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-3CDSENST00000401701ENST00000406454MYH9chr22

36783852

-CACNA1Cchr12

2224390

+
intron-intronENST00000401701ENST00000491104MYH9chr22

36783852

-CACNA1Cchr12

2224390

+

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FusionProtFeatures for MYH9_CACNA1C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYH9

P35579

CACNA1C

Q13936

Cellular myosin that appears to play a role incytokinesis, cell shape, and specialized functions such assecretion and capping. During cell spreading, plays an importantrole in cytoskeleton reorganization, focal contacts formation (inthe margins but not the central part of spreading cells), andlamellipodial retraction; this function is mechanicallyantagonized by MYH10. {ECO:0000269|PubMed:20052411}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MYH9_CACNA1C


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MYH9_CACNA1C


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MYH9EPB41, MARK4, ASCC2, MYL9, PRKCE, USP1, USP45, GRB2, RAC1, YWHAZ, EMD, TERF1, TERF2, CBL, PPP2R4, AGO3, YWHAQ, MME, HDAC5, NCOA3, CREBBP, UBE3A, ARRB1, ARRB2, SIRT7, TRAF4, SP1, ISG15, FBXO25, CDK2, CUL1, TRIM72, GRK5, UBASH3B, PIK3R2, SHC1, MYL6, SPTAN1, HSP90AB1, ACTA2, MYH10, HNRNPU, FLNA, ACTR1A, RAB11A, EIF4B, SEL1L, ATP5A1, SEPT7, RALA, HSPA5, TUBA4A, EIF3A, EIF3C, TPM4, MRPS18B, PSME3, HSPA1A, ESR1, TSGA10, EIF4A3, MAGOH, TRAF3IP1, MEN1, HSP90AA1, VCAM1, FN1, IQCB1, ITGA4, PAN2, ACE, ACTB, CSNK2A1, PIK3C3, PPP2CA, CASP4, TARDBP, AKAP10, CDC73, MYH14, OTUD6B, MYL12A, RPA1, RPA2, RPA3, LGR4, IVNS1ABP, TP53, HUWE1, ALK, UBE2I, EED, AMFR, OS9, SYVN1, ATG9A, USP7, HNRNPA1, ATP5L, MYO1E, SRSF5, SSB, NTRK1, ACTA1, ACTG1, ACTN4, ACTN1, AP2A1, AP2B1, ANXA2, APOB, DST, CALD1, CALM1, CALML3, CAPZA1, CAPZA2, CAPZB, CD44, CFL1, CFL2, AP2M1, CLTA, CLTB, CLTC, CPM, DAB2, DAPK3, DBN1, DSG2, CTTN, STOM, EPS15, FLII, FLNB, FYN, GNAI1, GNAI2, GNAS, GNB2, GSN, HIP1, ITPR2, ITPR3, JUP, LGALS1, ABLIM1, LMO7, LSS, LYN, MYO1B, MSN, PDLIM7, ANLN, MYO19, MYO18A, MYLK, MYO1C, MYO5A, MYO5B, MYO6, PPP1R12A, PPP1R12B, NAP1L1, PAWR, PIK3C2A, PLEC, PLS1, PPIA, PPP1CA, PPP1CB, PPP1CC, PSMB10, TWF1, PEX5, RPL22, SIPA1, SORD, SPTBN1, SPTBN2, SSFA2, ST5, SVIL, TCEA2, TMOD1, TNFAIP1, TPM1, TPM2, TPM3, CORO2A, YES1, LUZP1, PICALM, PIP5K1A, SORBS2, IQGAP1, HIP1R, GPRC5A, LRRFIP2, CLINT1, ARHGAP11A, ARHGEF17, SEC16A, WDR1, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, ARPC2, BCAP31, FLOT1, BASP1, IMMT, RBPMS, DSTN, TRIOBP, CEP250, AKAP2, TWF2, SYNPO, CEP162, LIMCH1, PALLD, SIPA1L3, MPRIP, COBL, KIF13B, SPECC1L, ATP13A2, MACF1, CORO1C, STX12, GCA, PLEKHG3, RAI14, ZBTB20, AHDC1, PACSIN3, TMOD3, PNMA3, FCF1, CEP83, LIMA1, GTSE1, KDM3B, UACA, CDCA8, BMP2K, UNC45A, MYO5C, GNG12, MUC13, CORO1B, MICAL3, ARHGAP21, SHROOM3, AFAP1, INF2, NARFL, METTL17, AHNAK, EFHD2, CYBRD1, WDR76, DSN1, RNF170, TRIM56, ARPC5L, ANTXR1, LZTS2, PPP1R9B, CEP89, STON2, DOCK7, DIXDC1, SSH2, NEXN, ELMSAN1, SPECC1, CCDC102A, FCHO2, MISP, JMY, CD109, ACTRT1, MYL6B, CCDC50, OARD1, GAS2L3, TTLL6, TPRN, ACTBL2, MCM2, MCM5, SNW1, CDC5L, BOP1, PES1, EGFR, CDH1, C9orf156, MYL3, H2AFY, CYLD, TRIM25, BRCA1, HDAC6CACNA1CPCBD1, CACNB3, CABP1, RYR2, SRI, HDAC4, SIRT1, VCP, DERL1, TRIM13, CUL1, CAND1, COPS5, CALM1, KCNE2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MYH9_CACNA1C


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMYH9P35579DB11638ArtenimolMyosin-9small moleculeapproved|investigational
TgeneCACNA1CQ13936DB00308IbutilideVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB00381AmlodipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB00401NisoldipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB00661VerapamilVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB00898EthanolVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB01115NifedipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB04855DronedaroneVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB09089TrimebutineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB09227BarnidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
TgeneCACNA1CQ13936DB00270IsradipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB00393NimodipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB00568CinnarizineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB00622NicardipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB01023FelodipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB01054NitrendipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB04920ClevidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB06712NilvadipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB06751DrotaverineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB09231BenidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB09232CilnidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB09236LacidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB09238ManidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB11633IsavuconazoleVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
TgeneCACNA1CQ13936DB00653Magnesium sulfateVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational|vet_approved
TgeneCACNA1CQ13936DB01373CalciumVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|nutraceutical

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RelatedDiseases for MYH9_CACNA1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYH9C0403445Fechtner syndrome (disorder)9UNIPROT
HgeneMYH9C0398641Epstein syndrome (disorder)7UNIPROT
HgeneMYH9C0340978May-Hegglin anomaly6UNIPROT
HgeneMYH9C0022661Kidney Failure, Chronic2CTD_human
HgeneMYH9C1854520SEBASTIAN SYNDROME2CTD_human;ORPHANET;UNIPROT
HgeneMYH9C0017668Focal glomerulosclerosis1CTD_human
HgeneMYH9C0020544Renal hypertension1CTD_human
HgeneMYH9C0027706Hereditary nephritis1CTD_human
HgeneMYH9C0036341Schizophrenia1PSYGENET
HgeneMYH9C1863659DEAFNESS, AUTOSOMAL DOMINANT 171UNIPROT
HgeneMYH9C2673482Increased susceptibility to schizophrenia1PSYGENET
TgeneCACNA1CC0005586Bipolar Disorder8CTD_human;PSYGENET
TgeneCACNA1CC1832916Timothy syndrome6CTD_human;ORPHANET;UNIPROT
TgeneCACNA1CC0011570Mental Depression5PSYGENET
TgeneCACNA1CC0011581Depressive disorder5PSYGENET
TgeneCACNA1CC0041696Unipolar Depression5PSYGENET
TgeneCACNA1CC0525045Mood Disorders5PSYGENET
TgeneCACNA1CC1269683Major Depressive Disorder5PSYGENET
TgeneCACNA1CC0036341Schizophrenia4PSYGENET
TgeneCACNA1CC0033975Psychotic Disorders3PSYGENET
TgeneCACNA1CC0178417Anhedonia2PSYGENET
TgeneCACNA1CC0003811Cardiac Arrhythmia1CTD_human
TgeneCACNA1CC0004352Autistic Disorder1CTD_human
TgeneCACNA1CC0020538Hypertensive disease1CTD_human
TgeneCACNA1CC0020615Hypoglycemia1CTD_human
TgeneCACNA1CC0021051Immunologic Deficiency Syndromes1CTD_human
TgeneCACNA1CC0206762Limb Deformities, Congenital1CTD_human
TgeneCACNA1CC0349204Nonorganic psychosis1PSYGENET
TgeneCACNA1CC2678478Brugada Syndrome 31CTD_human;UNIPROT