Subtype of: Limb-girdle muscular dystrophy

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
autosomal recessive limb-girdle muscular dystrophy	MONDO:0015152 MONDO_0009675 MONDO_0009676 MONDO_0011968 MONDO_0011423 MONDO_0011028 MONDO_0009677 MONDO_0014144 MONDO_0015152 MONDO_0014142 MONDO_0957270 MONDO_0030456 MONDO_0029136 MONDO_0012652 MONDO_0013390 MONDO_0014474 MONDO_0014782 MONDO_0030014 MONDO_0971171 MONDO_0011170 MONDO_0014900 MONDO_0012127	ANO5	Causal	—	ClinGen	Efferocytosis Stimuli-sensing channels
		CAPN3	Causal	10330340 27020652 27234031 27259757 28881388 31937337 32342993 32557990 32896923 32994280 7720071 8624690 9150160 9266733 9452114 9655129 9762961 9771675	ClinGen, Open Targets	Cytoskeleton in muscle cells Degradation of the extracellular matrix
		DYSF	Causal	10196377 11134403 11959863 14678801 15469449 15477515 16010686 16100712 16705711 16996541 17185750 17287450 18306167 18853459 19084402 21658164 25821721 25929793 29879922 35962550 9731526	ClinGen, Open Targets	Smooth Muscle Contraction
		SGCA	Causal	18996010 23989969 26453141 27297959 30345904 7657792 7663524 8069911 8528203 9032047 9192266 9585331	ClinGen, Open Targets	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		SGCB	Causal	30345904 8968749 9032047 9565988 9631401	ClinGen, Open Targets	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		SGCD	Causal	19259135 20186049 27532257 9832045	ClinGen, Open Targets	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		SGCG	Causal	10714584 10942431 11053682 14991064 24464767 30345904 39472908 8968757	ClinGen, Open Targets	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TRAPPC11	Causal	23830518 26322222 26912795 27707803 27862579 28484880 29855340 30105108	ClinGen, Open Targets	RAB GEFs exchange GTP for GDP on RABs
		TRIM32	Causal	11822024 17994549 30823891 37217920 40017290	ClinGen, Open Targets	Ubiquitin mediated proteolysis Regulation of innate immune responses to cytosolic DNA Antigen processing: Ubiquitination & Proteasome degradation
		GMPPB	Unknown	27874200 28456886 25681410 26133662 23768512 27147698 26503795 25529582 24896178	Open Targets	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +2 more
		HMGCR	Unknown	36745799 37167966	ClinGen, Open Targets	Terpenoid backbone biosynthesis Metabolic pathways AMPK signaling pathway +5 more
		JAG2	Unknown	33861953 39121631 39649397	ClinGen, Open Targets	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +8 more
		LAMA2	Unknown	21953594 24957499	Open Targets	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
		LOC102723370	Unknown	20096397 22499103 25864073 25891276 25929793 32925086 33496727	Open Targets	—
		PLEC	Unknown	21109228 20624679 28447722 22144912 21263134 31509265 28824526 27234031 25556389	Open Targets	Cytoskeleton in muscle cells Assembly of collagen fibrils and other multimeric structures Caspase-mediated cleavage of cytoskeletal proteins +1 more
		POGLUT1	Unknown	27807076 29034878 31897643 33861953	ClinGen, Open Targets	Other types of O-glycan biosynthesis
		POPDC1	Unknown	26642364	Open Targets	—
		POPDC3	Unknown	31610034 35075722 35842834 37104941	ClinGen, Open Targets	cAMP signaling pathway Adrenergic signaling in cardiomyocytes
		SNUPN	Unknown	38366623 38413582	Open Targets	Nucleocytoplasmic transport snRNP Assembly
		TCAP	Unknown	10655062 15582318 18948002 20186049 21530252 23479141 25055047 27532257 29797799 29935994 32761539 36463458 37216648 39015008	ClinGen, Open Targets	Cytoskeleton in muscle cells Striated Muscle Contraction
		TOR1AIP1	Unknown	32055997 24856141 27342937 30723199 31299614 25425325 33215087 34164833	Open Targets	—
		TTN	Unknown	27532257 20186049 22335739 27869827 29238064 25589632 26777568 12145747	Open Targets	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more

Autosomal recessive limb-girdle muscular dystrophy

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