Disease table of MECKEL SYNDROME OMIM ID: PS249000

Gene-disease associations table

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Gene	Associated with MECKEL SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
B9D1	ClinVar, OMIM	HGNC link	17p11.2	1	PS249000
B9D2	ClinVar, OMIM, HUMSAVAR	HGNC link	19q13.2	1	PS249000
CC2D2A	ClinVar, OMIM, HUMSAVAR	HGNC link	4p15.32	3	PS213300, 216360, PS249000
CEP290	ClinVar, OMIM	HGNC link	12q21.32	5	PS249000, PS213300, PS204000, 610189, PS209900
KIF14	ClinVar, OMIM	HGNC link	1q32.1	1	PS249000
MKS1	ClinVar, OMIM	HGNC link	17q22	3	PS213300, PS209900, PS249000
NPHP3	ClinVar, OMIM	HGNC link	3q22.1	3	PS249000, PS208540, PS256100
RPGRIP1L	ClinVar, OMIM, HUMSAVAR	HGNC link	16q12.2	3	PS213300, 216360, PS249000
TCTN2	ClinVar, OMIM	HGNC link	12q24.31	2	PS213300, PS249000
TMEM216	ClinVar, OMIM, HUMSAVAR	HGNC link	11q12.2	2	PS213300, PS249000

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
12q2	2	CEP290, TCTN2

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
12q	2	CEP290, TCTN2
16q	2	RPGRIP1L, TMEM231

By chromosome

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Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
12	2	CEP290, TCTN2
16	2	RPGRIP1L, TMEM231
17	2	MKS1, B9D1

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Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
KIF14	CEP290	Yes	7	CEP128, CEP162, CEP104, PCM1, CCDC14, MED4, CEP135
KIF14	RPGRIP1L	Yes	8	CEP152, CEP128, CEP162, SPICE1, LCA5, NINL, CNTRL, PCM1
TCTN2	MKS1	Yes	2	B9D2, TMEM231
TCTN2	TMEM231	Yes	4	FBXO6, BTNL8, B9D2, MKS1
TCTN2	B9D2	Yes	3	TMEM231, MKS1, LEMD3
MKS1	CC2D2A	Yes	6	MB21D2, B9D1, HAUS8, B9D2, UNC45A, ECH1
MKS1	TMEM231	Yes	3	B9D1, B9D2, TCTN2
MKS1	B9D2	Yes	6	TCTN2, B9D1, TMEM231, YTHDF1, TNRC6B, CC2D2A
MKS1	B9D1	Yes	12	CCT7, PDCL3, CCT5, TMEM17, TMEM231, CCT3, CCT2, B9D2, TCP1, CCT4, CC2D2A, CCT6A
CC2D2A	B9D2	Yes	3	TCTN3, B9D1, MKS1

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
TMEM67	TCTN2	Yes	binding	10	TMEM216, CEP290, MKS1, TMEM17, AHI1, TCTN1, TMEM231, B9D1, CC2D2A, B9D2
TMEM67	MKS1	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, B9D1, CC2D2A, B9D2
TMEM67	CEP290	Yes	binding	10	TMEM216, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A, B9D2
TMEM67	CC2D2A	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, B9D2
TMEM67	TMEM216	Yes	binding	10	CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A, B9D2
TMEM67	TMEM231	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, MKS1, B9D1, CC2D2A, B9D2
TMEM67	B9D2	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, B9D1, CC2D2A
TMEM67	B9D1	Yes	binding	10	TMEM216, CEP290, TMEM17, TCTN2, AHI1, TCTN1, TMEM231, MKS1, CC2D2A, B9D2
TCTN2	MKS1	Yes	binding	10	TMEM216, CEP290, B9D1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, CC2D2A, B9D2
TCTN2	CEP290	Yes	binding	10	TMEM216, MKS1, TMEM17, AHI1, TCTN1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Anchoring of the basal body to the plasma membrane	R-HSA-5620912	6.51	9	TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
Hedgehog 'off' state	R-HSA-5610787	6.19	2	RPGRIP1L, MKS1
Signaling by Hedgehog	R-HSA-5358351	5.79	2	RPGRIP1L, MKS1
Assembly of the primary cilium	R-HSA-5617833	5.44	10	TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
RHO GTPase Effectors	R-HSA-195258	4.94	2	KIF14, B9D2
Organelle biogenesis and maintenance	R-HSA-1852241	4.63	10	TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
Signaling by Rho GTPases	R-HSA-194315	4.43	2	KIF14, B9D2
Cell Cycle, Mitotic	R-HSA-69278	4.16	2	CEP290, B9D2
Cell Cycle	R-HSA-1640170	3.89	2	CEP290, B9D2
Signal Transduction	R-HSA-162582	1.78	4	KIF14, RPGRIP1L, B9D2, MKS1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Anchoring of the basal body to the plasma membrane (R-HSA-5620912)	-	6.51	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
Hedgehog 'off' state (R-HSA-5610787)	-	6.19	0.027	CEP290, RPGRIP1L, MKS1
Assembly of the primary cilium (R-HSA-5617833)	-	5.44	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A, B9D2
Organelle biogenesis and maintenance (R-HSA-1852241)	-	4.63	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, CC2D2A, NPHP3, B9D2

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GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
microtubule motor activity (GO:0003777)	5.34	2	KIF14, NPHP3
motor activity (GO:0003774)	4.81	2	KIF14, NPHP3
microtubule binding (GO:0008017)	4.42	2	KIF14, CEP290
tubulin binding (GO:0015631)	4.1	3	KIF14, CEP290, B9D2
nucleoside-triphosphatase activity (GO:0017111)	3.09	2	NPHP3, KIF14
pyrophosphatase activity (GO:0016462)	3.04	2	NPHP3, KIF14
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)	3.03	2	NPHP3, KIF14
hydrolase activity, acting on acid anhydrides (GO:0016817)	3.03	2	KIF14, NPHP3
cytoskeletal protein binding (GO:0008092)	3.02	4	CEP290, KIF14, B9D2, TMEM67
hydrolase activity (GO:0016787)	1.9	2	KIF14, NPHP3

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
motile primary cilium assembly (GO:1903887)	8.34	2	CC2D2A, MKS1
embryonic brain development (GO:1990403)	7.78	2	CC2D2A, MKS1
regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)	7.24	2	NPHP3, MKS1
head development (GO:0060322)	7.02	2	RPGRIP1L, MKS1
regulation of non-canonical Wnt signaling pathway (GO:2000050)	6.78	2	NPHP3, MKS1
olfactory bulb development (GO:0021772)	6.68	2	KIF14, RPGRIP1L
nonmotile primary cilium assembly (GO:0035058)	6.51	2	CC2D2A, MKS1
embryonic digit morphogenesis (GO:0042733)	5.69	2	B9D1, MKS1
regulation of smoothened signaling pathway (GO:0008589)	5.62	2	RPGRIP1L, MKS1
cilium morphogenesis (GO:0060271)	5.54	9	TMEM216, CEP290, TCTN2, MKS1, TMEM67, RPGRIP1L, B9D1, NPHP3, CC2D2A

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
photoreceptor cell outer segment organization (GO:0035845)	NEW	7.65	0.01	CEP290, B9D2
central nervous system neuron axonogenesis (GO:0021955)	NEW	6.51	0.006	TCTN2, TMEM67, B9D2
vasculature development (GO:0001944)	NEW	6.04	0.017	CEP290, B9D1, B9D2
cilium morphogenesis (GO:0060271)	-	5.54	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM67, B9D1, NPHP3, CC2D2A
smoothened signaling pathway (GO:0007224)	-	5.45	0.0	B9D1, CEP290, CC2D2A, TMEM231, TCTN2
eye development (GO:0001654)	-	5.07	0.008	B9D1, CEP290, B9D2, RPGRIP1L
establishment or maintenance of cell polarity (GO:0007163)	NEW	5.0	0.023	CEP290, NPHP3, RPGRIP1L, TMEM67
sensory organ development (GO:0007423)	-	4.82	0.022	B9D1, CEP290, B9D2, RPGRIP1L
kidney development (GO:0001822)	-	4.79	0.019	NPHP3, CEP290, RPGRIP1L
cilium assembly (GO:0042384)	-	4.77	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
MKS complex (GO:0036038)	7.32	9	TMEM216, CEP290, TCTN2, MKS1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
ciliary transition zone (GO:0035869)	6.62	9	TMEM216, CEP290, TMEM231, MKS1, RPGRIP1L, TMEM67, B9D1, CC2D2A, B9D2
kinesin complex (GO:0005871)	5.74	2	NPHP3, KIF14
ciliary membrane (GO:0060170)	5.43	3	TMEM231, TCTN2, TMEM67
ciliary basal body (GO:0036064)	5.36	4	B9D1, RPGRIP1L, MKS1, B9D2
centriole (GO:0005814)	5.15	2	CEP290, MKS1
microtubule organizing center part (GO:0044450)	4.8	2	CEP290, MKS1
microtubule associated complex (GO:0005875)	4.79	2	KIF14, NPHP3
primary cilium (GO:0072372)	4.64	2	NPHP3, CEP290
cell projection membrane (GO:0031253)	4.11	3	TMEM231, TCTN2, TMEM67

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
TCTN-B9D complex (GO:0036038)	-	7.32	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM67, TMEM231, B9D1, CC2D2A, B9D2
ciliary transition zone (GO:0035869)	-	6.62	0.0	B9D1, CC2D2A, B9D2, TMEM231
ciliary membrane (GO:0060170)	-	5.43	0.039	CEP290, TMEM231, TMEM67, B9D2
ciliary basal body (GO:0036064)	-	5.36	0.0	B9D1, CEP290, RPGRIP1L, MKS1, B9D2
ciliary part (GO:0044441)	-	4.05	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cilium (GO:0005929)	-	3.89	0.009	TMEM216, CEP290, NPHP3, B9D2, RPGRIP1L
centrosome (GO:0005813)	-	3.75	0.002	CEP290, MKS1, B9D1, RPGRIP1L, TMEM67, B9D2
microtubule organizing center (GO:0005815)	-	3.42	0.0	CEP290, MKS1, B9D1, RPGRIP1L, TMEM67, B9D2
cell projection part (GO:0044463)	-	2.97	0.0	TMEM216, CEP290, TCTN2, MKS1, TMEM231, TMEM67, RPGRIP1L, B9D1, CC2D2A, B9D2
cytoskeleton (GO:0005856)	-	2.55	0.001	TMEM216, KIF14, B9D1, TCTN2, CEP290, TMEM67, CC2D2A, B9D2

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