Craniometaphyseal dysplasia | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CRANIOMETAPHYSEAL DYSPLASIA	1522 MONDO:0015465	ANKH	Unknown	11326272 11326338 21438135	GWAS catalog, Orphanet	Miscellaneous transport and binding events
CRANIOMETAPHYSEAL DYSPLASIA	1522 MONDO:0015465	GJA1	Unknown	23951358	Orphanet	Gap junction Arrhythmogenic right ventricular cardiomyopathy Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane +4 more
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	123000 C1852502 MESH:C565145 MONDO:0007397	ANKH	Causal	2712793 20358596 11326272 14322785	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Miscellaneous transport and binding events
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	123000 C1852502 MESH:C565145 MONDO:0007397	OTULIN	Unknown	—	Disgenet	Regulation of TNFR1 signaling Synthesis of active ubiquitin: roles of E1 and E2 enzymes
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE	218400 MONDO:0009035	GJA1	Unknown	—	ClinVar, GenCC, HPO	Gap junction Arrhythmogenic right ventricular cardiomyopathy Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane +4 more
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE TYPE	C2931244 MESH:C536570	GJA1	Unknown	—	CTD, Disgenet	Gap junction Arrhythmogenic right ventricular cardiomyopathy Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane +4 more