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 13	617562 C4539714 MONDO:0033044	TMEM107	Causal	22698544 24901346 26123494 26518474	ClinVar, Disgenet, GWAS catalog, HPO	—
MECKEL SYNDROME 14	619879 C5676989 MONDO:0030819	TXNDC15	Causal	251488 27346357 27894351 282790 30851085	ClinVar, Disgenet, HPO	—
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 1	249000 MONDO:0009571	MKS1	Causal	—	ClinVar, GenCC, HPO	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME, TYPE 10	614175 C3280036 MONDO:0013609	B9D2	Causal	21763481	ClinVar, Disgenet, GWAS catalog, HPO	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
MECKEL SYNDROME, TYPE 11	615397 C3809352 MONDO:0014164	TMEM231	Causal	22179047 23012439 23349226 25869670 27449316 30617574 31663672	ClinVar, Disgenet, GWAS catalog, HPO	—
MECKEL SYNDROME, TYPE 2	603194 C1864148 MONDO:0011296	TMEM216	Causal	—	ClinVar, Disgenet, HPO	Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME, TYPE 3	607361 MONDO:0011821	TMEM67	Causal	—	ClinVar, GenCC, HPO	Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME, TYPE 4	611134 C1970161 MESH:C567003 MONDO:0012626	CEP290	Causal	—	CTD, ClinVar, Disgenet, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		TMEM218	Causal	—	Disgenet	—
		RLIG1	Unknown	—	Disgenet	—
MECKEL SYNDROME, TYPE 5	611561 C1969052 MESH:C566915 MONDO:0012695	RPGRIP1L	Causal	17558409 18565097 17558407 19574260	CTD, ClinVar, Disgenet, HPO	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME, TYPE 6	612284 C2676790 MESH:C567365 MONDO:0012848	CC2D2A	Causal	—	CTD, ClinVar, Disgenet, HPO	Anchoring of the basal body to the plasma membrane
		CEP290	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		TCTN2	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME, TYPE 7	267010	NPHP3	Unknown	—	HPO	Trafficking of myristoylated proteins to the cilium
MECKEL SYNDROME, TYPE 8	613885 C3836857 MONDO:0013482	TCTN2	Causal	21462283 21565611 21725307 25118024 32139166 32655147 33590725	ClinVar, Disgenet, GWAS catalog, HPO	Anchoring of the basal body to the plasma membrane
MECKEL SYNDROME, TYPE 9	614209 C3280155 MONDO:0013630	B9D1	Causal	21493627	ClinVar, Disgenet, GWAS catalog, HPO	Anchoring of the basal body to the plasma membrane
MECKEL-GRUBER SYNDROME	C0265215	B9D1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		B9D2	Causal	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
		CC2D2A	Causal	19777577 18513680	Disgenet	Anchoring of the basal body to the plasma membrane
		CEP290	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CSPP1	Causal	24360808 24360807 24360803	Disgenet	—
		EXOC3L2	Causal	—	Disgenet	—
		EXOC4	Causal	—	Disgenet	Salmonella infection Insulin processing VxPx cargo-targeting to cilium
		KIAA0586	Causal	—	Disgenet	—
		MKS1	Causal	24886560 16415886 17437276 26490104 18327255	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		RPGRIP1L	Causal	17558409 19574260 17558407	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		TCTN1	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TCTN2	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TMEM138	Causal	—	Disgenet	—
		TMEM231	Causal	—	Disgenet	—
		TMEM237	Causal	—	Disgenet	—
		TMEM67	Causal	19508969 17160906 19058225 20607301 16415887 18327255	Disgenet	Anchoring of the basal body to the plasma membrane
		TXNDC15	Causal	—	Disgenet	—
		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	—

Meckel-gruber syndrome

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