Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	C1861862	DNAAF3	Unknown	—	Disgenet
		LDB3	Unknown	—	Disgenet
		MYBPC3	Unknown	—	Disgenet
		MYH7	Unknown	—	Disgenet
		NCF1	Unknown	—	Disgenet
		RYR2	Unknown	—	Disgenet
		TCAP	Unknown	—	Disgenet
		TNNI3	Unknown	—	Disgenet
		TNNT2	Unknown	—	Disgenet
HYPERTROPHIC CARDIOMYOPATHY	C0007194 MONDO:0005045 EFO_0000538	ACTC1	Causal	10330430 10966831 16267253 16675844 17611253 21622575 22643837 24309898 24736382 27532257 9114002	ClinGen Disgenet GWAS catalog
		ACTN2	Causal	39966646	Disgenet GWAS catalog
		ALPK3	Causal	11418590 21441111 26846950 27106955 28630369 30046096 31074094 32480058 33076350 33495596 34862804	ClinGen Disgenet GWAS catalog
		CASR	Causal	—	Disgenet
		CSRP3	Causal	12507422 12642359 15205937 15582318 15781201 16352453 17097056 18083727 18505755 19035361 20044516 20087448 21425739 22421737 22429680 23396983 23861362 24934443 25351510 25613900 26656175 27532257 28082330 30012424 30048712 31406	ClinGen Disgenet GWAS catalog
		GLA	Causal	—	Disgenet
		JPH2	Causal	15541368 17476457 17509612 20095964 21216834 21339484 22389502 23973696 26869393 28393127 29208631 30235249	CTD ClinGen Disgenet
		KIF5B	Causal	—	Disgenet
		LAMP2	Causal	—	Disgenet
		MYBPC3	Causal	11230104 11909824 15249187 18533079 24464755 26358504 27532257 27737317 7493025 9440712 9562578	ClinGen Disgenet GenCC
		MYH7	Causal	1552912 15856146 1634614 1944483 1975517 2144212 23290139 23715323 23798412 25189259 25209314 27532257 8614836	ClinGen Disgenet
		MYH7B	Causal	—	Disgenet
		MYL2	Causal	11102452 12404107 12707239 12818575 15829506 16076902 16837010 18987303 21896538 24111713 25351510 26497160 27378946 27532257 7236212 8316857 8673105 9535554	ClinGen Disgenet GWAS catalog
		MYL3	Causal	11174330 12186978 12707239 16267253 16675844 18403758 18409188 19035361 21239446 23426552 25086479 25611685 26443374 26779504 27483260 27532257 8417110 8673105 9927691	ClinGen Disgenet GenCC
		PKP2	Causal	—	Disgenet
		PLN	Causal	—	Disgenet
		PRKAG2	Causal	—	Disgenet
		PTPN11	Causal	—	Disgenet
		SLC25A4	Causal	—	Disgenet
		SLC30A5	Causal	—	Disgenet
		TMEM43	Causal	—	Disgenet
		TNNC1	Causal	11385718 16302972 18042489 18063575 18285522 18572189 18820258 19439414 19506933 20459070 20566645 20925115 21262074 22489623 22815480 23008774 24260207 26304555 26341255 26779504 26976709 28771489 29121657 29255176 30188508 30775	ClinGen ClinVar Disgenet
		TNNI3	Causal	11055985 12242271 15607392 15698845 15867176 16950368 18430738 19035361 19715700 20641121 22086914 22876777 25086479 27532257 9241277	ClinGen Disgenet GWAS catalog
		TNNT2	Causal	10330428 10405326 10449439 11060294 1934353 27532257 27721798 8205619 9637714	ClinGen Disgenet GenCC
		TPM1	Causal	11045979 11136687 11603924 12423715 12651045 21320446 21376702 23508784 25548289 27057166 27532257 7729014 8205619 8774330 9822100	ClinGen Disgenet GenCC
		TRIM63	Causal	—	ClinGen Disgenet GenCC
		TTN	Causal	10093045 10462489 15582318 16465475 17261657 18853439 19608031 19679835 21297871 22335739 23396983 23715323 25979592 28223422 28323875 28771489 28797094 28822653 31628103 32351396 33012304 33297573 35626289 38880420 39895828 86313	ClinGen Disgenet
		UQCRC1	Causal	—	Disgenet
		ABCA5	Unknown	33495597	GWAS catalog
		ABCC9	Unknown	—	Disgenet
		ADAMTS7	Unknown	39966646	GWAS catalog
		ADPRHL1	Unknown	33495597 39966646	GWAS catalog
		AGT	Unknown	—	Disgenet
		AHNAK	Unknown	34594039	GWAS catalog
		AKAP9	Unknown	—	Disgenet
		AMBRA1	Unknown	33495597	GWAS catalog
		ANK2	Unknown	—	Disgenet
		ANKRD1	Unknown	—	ClinGen Disgenet
		ARHGAP1	Unknown	34594039	GWAS catalog
		BAG3	Unknown	33495596 33495597 39966646	Disgenet GWAS catalog
		BRAF	Unknown	—	Disgenet

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Hypertrophic cardiomyopathy