Meckel-gruber syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MECKEL SYNDROME	564 MONDO:0018921	B9D1	Unknown	21493627	GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
		B9D2	Unknown	21763481	CTD, Orphanet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
		CC2D2A	Unknown	19466712 21110233	Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
		CEP290	Unknown	17564974 19466712 21110233	Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CSPP1	Unknown	—	GenCC, Orphanet	—
		MKS1	Unknown	17389183 19466712 21110233	GWAS catalog, Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		RPGRIP1	Unknown	—	Orphanet	—
		RPGRIP1L	Unknown	17558409 21110233	ClinVar, Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TCTN1	Unknown	28631893	GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
		TCTN2	Unknown	21462283	Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
		TCTN3	Unknown	22883145	CTD, Orphanet	Anchoring of the basal body to the plasma membrane
		TMEM107	Unknown	26123494	Orphanet	—
		TMEM216	Unknown	20512146 21110233	GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
		TMEM231	Unknown	23349226	GWAS catalog, Orphanet	—
		TMEM237	Unknown	26729329	Disgenet, Orphanet	—
		TMEM67	Unknown	17389183 19466712 21110233	Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
		TXNDC15	Unknown	27894351	GenCC, Orphanet	—
MECKEL SYNDROME 12	616258	KIF14	Unknown	—	HPO	Motor proteins RHO GTPases activate CIT
MECKEL SYNDROME TYPE 1	C3714506 MESH:C536133	HOXB6	Unknown	—	Disgenet	—
		MKS1	Unknown	—	CTD, Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TMEM107	Unknown	—	Disgenet	—
MECKEL SYNDROME TYPE 2	MESH:C536131	TMEM216	Unknown	—	CTD	Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME TYPE 3	C1846357 MESH:C536132	TMEM67	Unknown	—	CTD, Disgenet	Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME, TYPE 4	C1970161	RLIG1	Unknown	—	Disgenet	—
MECKEL SYNDROME, TYPE 7	267010	NPHP3	Unknown	—	HPO	Trafficking of myristoylated proteins to the cilium
MECKEL-GRUBER SYNDROME	C0265215	ATP6V0A2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
		CCDC172	Unknown	—	Disgenet	—
		CEP295	Unknown	—	Disgenet	—
		CIMIP2B	Unknown	—	Disgenet	—
		EVC2	Unknown	—	Disgenet	Hedgehog signaling pathway Hedgehog 'on' state Activation of SMO
		NPHP3	Unknown	—	Disgenet	Trafficking of myristoylated proteins to the cilium
		RLIG1	Unknown	—	Disgenet	—
		TCTN3	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TMEM107	Unknown	26518474 26595381 26123494 28289185 24901346	Disgenet	—
		TMEM17	Unknown	—	Disgenet	—
		TMEM216	Unknown	30055837 20512146	Disgenet	Anchoring of the basal body to the plasma membrane
		TTC6	Unknown	—	Disgenet	—