Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
MECKEL SYNDROME	564 MONDO:0018921	B9D1	Unknown	21493627	GWAS catalog Orphanet
		B9D2	Unknown	21763481	CTD Orphanet
		CC2D2A	Unknown	19466712 21110233	Disgenet Orphanet
		CEP290	Unknown	17564974 19466712 21110233	Orphanet
		CSPP1	Unknown	—	GenCC Orphanet
		MKS1	Unknown	17389183 19466712 21110233	GWAS catalog Orphanet
		RPGRIP1	Unknown	—	Orphanet
		RPGRIP1L	Unknown	17558409 21110233	ClinVar Orphanet
		TCTN1	Unknown	28631893	GWAS catalog Orphanet
		TCTN2	Unknown	21462283	Disgenet Orphanet
		TCTN3	Unknown	22883145	CTD Orphanet
		TMEM107	Unknown	26123494	Orphanet
		TMEM216	Unknown	20512146 21110233	GWAS catalog Orphanet
		TMEM231	Unknown	23349226	GWAS catalog Orphanet
		TMEM237	Unknown	26729329	Disgenet Orphanet
		TMEM67	Unknown	17389183 19466712 21110233	Disgenet Orphanet
		TXNDC15	Unknown	27894351	GenCC Orphanet
MECKEL SYNDROME 12	616258	KIF14	Unknown	—	HPO
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
		TMEM107	Unknown	—	Disgenet
MECKEL SYNDROME TYPE 2	MESH:C536131	TMEM216	Unknown	—	CTD
MECKEL SYNDROME TYPE 3	C1846357 MESH:C536132	TMEM67	Unknown	—	CTD Disgenet
MECKEL SYNDROME, TYPE 1	249000 MONDO:0009571	MKS1	Causal	—	ClinVar GenCC HPO
MECKEL SYNDROME, TYPE 10	614175 C3280036 MONDO:0013609	B9D2	Causal	21763481	ClinVar Disgenet GWAS catalog HPO
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
MECKEL SYNDROME, TYPE 3	607361 MONDO:0011821	TMEM67	Causal	—	ClinVar GenCC HPO
MECKEL SYNDROME, TYPE 4	611134 C1970161 MESH:C567003 MONDO:0012626	CEP290	Causal	—	CTD ClinVar Disgenet HPO
		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
MECKEL SYNDROME, TYPE 6	612284 C2676790 MESH:C567365 MONDO:0012848	CC2D2A	Causal	—	CTD ClinVar Disgenet HPO
		CEP290	Causal	—	Disgenet
		TCTN2	Causal	—	Disgenet
MECKEL SYNDROME, TYPE 7	267010	NPHP3	Unknown	—	HPO
MECKEL SYNDROME, TYPE 8	613885 C3836857 MONDO:0013482	TCTN2	Causal	21462283 21565611 21725307 25118024 32139166 32655147 33590725	ClinVar Disgenet GWAS catalog HPO
MECKEL SYNDROME, TYPE 9	614209 C3280155 MONDO:0013630	B9D1	Causal	21493627	ClinVar Disgenet GWAS catalog HPO
MECKEL-GRUBER SYNDROME	C0265215	B9D1	Causal	—	Disgenet
		B9D2	Causal	—	Disgenet
		CC2D2A	Causal	—	Disgenet
		CEP290	Causal	—	Disgenet
		CSPP1	Causal	—	Disgenet
		EXOC3L2	Causal	—	Disgenet
		EXOC4	Causal	—	Disgenet
		KIAA0586	Causal	—	Disgenet
		MKS1	Causal	—	Disgenet
		RPGRIP1L	Causal	—	Disgenet

Meckel-gruber syndrome