MKS6
MCID: MCK012
MIFTS: 44

Meckel Syndrome, Type 6 (MKS6)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Meckel Syndrome, Type 6

MalaCards integrated aliases for Meckel Syndrome, Type 6:

Name: Meckel Syndrome, Type 6 57 40 73
Meckel Syndrome 6 57 12 75 13 15
Mks6 57 12 75
Meckel Syndrome Type 6 29 6
Meckel-Gruber Syndrome, Type 6 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

32
meckel syndrome, type 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 6

UniProtKB/Swiss-Prot : 75 Meckel syndrome 6: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

MalaCards based summary : Meckel Syndrome, Type 6, also known as meckel syndrome 6, is related to joubert syndrome 17 and joubert syndrome with renal anomalies. An important gene associated with Meckel Syndrome, Type 6 is CC2D2A (Coiled-Coil And C2 Domain Containing 2A), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include liver, kidney and bone, and related phenotypes are hydrocephalus and cleft palate

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32.

Description from OMIM: 612284

Related Diseases for Meckel Syndrome, Type 6

Diseases in the Meckel Syndrome, Type 1 family:

Meckel Syndrome, Type 7 Meckel Syndrome, Type 2
Meckel Syndrome, Type 3 Meckel Syndrome, Type 4
Meckel Syndrome, Type 5 Meckel Syndrome, Type 6
Meckel Syndrome, Type 8 Meckel Syndrome, Type 10
Meckel Syndrome, Type 9 Meckel Syndrome, Type 11
Meckel Syndrome 12 Meckel Syndrome 13

Diseases related to Meckel Syndrome, Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 17 10.2 NPHP1 WDPCP
2 joubert syndrome with renal anomalies 10.2 NPHP1 RPGRIP1L
3 retinal aplasia 10.1 NPHP1 NPHP4
4 encephalocele 10.1 CC2D2A MKS1 TMEM67
5 joubert syndrome 2 10.1 NPHP1 TMEM67
6 nephronophthisis 13 10.1 INVS NPHP1
7 congenital hepatic fibrosis 10.1 CC2D2A RPGRIP1L TMEM67
8 pathologic nystagmus 10.1 MKS1 TMEM67 WDPCP
9 joubert syndrome with ocular anomalies 10.1 AHI1 MKS1
10 coach syndrome 10.1 CC2D2A RPGRIP1L TMEM67
11 nephronophthisis 7 10.1 INVS NPHP1
12 infantile nephronophthisis 10.1 INVS NPHP4
13 juvenile nephronophthisis 10.0 INVS NPHP1 NPHP4
14 nephronophthisis 14 10.0 C2CD3 CC2D2B CEP76 NPHP4
15 joubert syndrome 3 10.0 AHI1 NPHP1
16 nephronophthisis 18 10.0 INVS NPHP1 NPHP4
17 patau syndrome 10.0 OFD1 TMEM67
18 meckel syndrome, type 2 10.0 B9D1 B9D2 MKS1 TMEM67
19 joubert syndrome 14 10.0 B9D1 B9D2 NPHP4 RPGRIP1L
20 nephronophthisis 9 10.0 INVS NPHP1 NPHP4
21 meckel syndrome, type 5 10.0 B9D1 B9D2 NPHP4 RPGRIP1L
22 bardet-biedl syndrome 15 10.0 CC2D2A RPGRIP1L TMEM67 WDPCP
23 microcephaly 6, primary, autosomal recessive 10.0 C2CD3 OFD1
24 nephronophthisis 4 10.0 NPHP1 NPHP4 RPGRIP1
25 nephronophthisis 2 10.0 INVS MKS1 NPHP1 NPHP4
26 cogan syndrome 10.0 NPHP1 NPHP4
27 nephronophthisis 19 9.9 NPHP1 NPHP4 OFD1 TMEM67
28 chronic kidney failure 9.9 INVS MKS1 NPHP1
29 joubert syndrome 6 9.9 AHI1 MKS1 NPHP1 TMEM67
30 cystic kidney disease 9.8 CC2D2A INVS NPHP1 NPHP4 TMEM67
31 nephronophthisis 1 9.8 AHI1 INVS NPHP1 NPHP4
32 meckel syndrome, type 3 9.8 B9D2 CC2D2A MKS1 NPHP1 RPGRIP1L TMEM67
33 hydrolethalus syndrome 1 9.8 AHI1 MKS1 OFD1 TMEM67
34 fundus dystrophy 9.8 AHI1 CC2D2A NPHP1 RPGRIP1
35 leber congenital amaurosis 9.7 AHI1 NPHP1 NPHP4 RPGRIP1
36 bardet-biedl syndrome 13 9.7 AHI1 CC2D2A MKS1 RPGRIP1L TMEM67 WDPCP
37 nephronophthisis 11 9.6 AHI1 CC2D2A NPHP1 NPHP4 RPGRIP1L TMEM67
38 bardet-biedl syndrome 9.6 INVS MKS1 NPHP1 NPHP4 RPGRIP1L TMEM67
39 senior-loken syndrome 1 9.5 AHI1 CC2D2A INVS MKS1 NPHP1 NPHP4
40 retinitis pigmentosa 9.2 AHI1 CC2D2A INVS NPHP1 NPHP4 OFD1
41 nephronophthisis 9.2 AHI1 CC2D2A INVS MKS1 NPHP1 NPHP4
42 meckel syndrome, type 1 8.3 AHI1 B9D1 B9D2 CC2D2A CC2D2B CEP76
43 joubert syndrome 1 8.2 AHI1 B9D1 B9D2 C2CD3 CC2D2A CC2D2B

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 6:



Diseases related to Meckel Syndrome, Type 6

Symptoms & Phenotypes for Meckel Syndrome, Type 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate

Skeletal Feet:
club feet
polydactyly, postaxial

Neurologic Central Nervous System:
hydrocephalus (in some patients)
encephalocele, occipital
anencephaly (in some patients)

Abdomen Liver:
hepatic fibrosis
bile duct proliferation
ductal plate malformations

Skeletal Hands:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia


Clinical features from OMIM:

612284

Human phenotypes related to Meckel Syndrome, Type 6:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 occasional (7.5%) HP:0000238
2 cleft palate 32 occasional (7.5%) HP:0000175
3 hepatic fibrosis 32 HP:0001395
4 talipes equinovarus 32 hallmark (90%) HP:0001762
5 hand polydactyly 32 hallmark (90%) HP:0001161
6 cleft upper lip 32 occasional (7.5%) HP:0000204
7 postaxial hand polydactyly 32 HP:0001162
8 anencephaly 32 occasional (7.5%) HP:0002323
9 cystic liver disease 32 hallmark (90%) HP:0006706
10 pulmonary hypoplasia 32 HP:0002089
11 renal cyst 32 obligate (100%) HP:0000107
12 occipital encephalocele 32 obligate (100%) HP:0002085
13 abnormal internal genitalia 32 occasional (7.5%) HP:0000812
14 bile duct proliferation 32 HP:0001408

MGI Mouse Phenotypes related to Meckel Syndrome, Type 6:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 AHI1 B9D1 B9D2 C2CD3 CC2D2A INVS
2 cardiovascular system MP:0005385 10.26 B9D1 B9D2 C2CD3 CC2D2A INVS MKS1
3 embryo MP:0005380 10.16 B9D1 B9D2 C2CD3 CC2D2A INVS MKS1
4 digestive/alimentary MP:0005381 10.13 B9D1 B9D2 CC2D2A INVS MKS1 OFD1
5 growth/size/body region MP:0005378 10.13 AHI1 B9D1 B9D2 CC2D2A INVS MKS1
6 craniofacial MP:0005382 10.1 B9D1 B9D2 CC2D2A MKS1 OFD1 RPGRIP1L
7 mortality/aging MP:0010768 10.1 AHI1 B9D1 B9D2 C2CD3 CC2D2A INVS
8 nervous system MP:0003631 10.07 AHI1 B9D1 B9D2 C2CD3 CC2D2A MKS1
9 limbs/digits/tail MP:0005371 10.06 B9D1 B9D2 C2CD3 CC2D2A MKS1 OFD1
10 renal/urinary system MP:0005367 9.93 AHI1 B9D1 B9D2 CC2D2A INVS MKS1
11 liver/biliary system MP:0005370 9.85 B9D1 B9D2 INVS MKS1 RPGRIP1L TMEM67
12 respiratory system MP:0005388 9.5 B9D2 CC2D2A INVS MKS1 OFD1 RPGRIP1L
13 vision/eye MP:0005391 9.32 AHI1 B9D1 B9D2 CC2D2A MKS1 NPHP1

Drugs & Therapeutics for Meckel Syndrome, Type 6

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 6

Genetic Tests for Meckel Syndrome, Type 6

Genetic tests related to Meckel Syndrome, Type 6:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 6 29 CC2D2A

Anatomical Context for Meckel Syndrome, Type 6

MalaCards organs/tissues related to Meckel Syndrome, Type 6:

41
Liver, Kidney, Bone, Eye

Publications for Meckel Syndrome, Type 6

Variations for Meckel Syndrome, Type 6

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 6:

75
# Symbol AA change Variation ID SNP ID
1 CC2D2A p.Thr1114Met VAR_062293 rs386833752

ClinVar genetic disease variations for Meckel Syndrome, Type 6:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 CC2D2A CC2D2A, 1762C-T single nucleotide variant Pathogenic
2 CC2D2A NM_001080522.2(CC2D2A): c.1339delG (p.Ala447Argfs) deletion Likely pathogenic rs386833745 GRCh37 Chromosome 4, 15529259: 15529259
3 CC2D2A NM_001080522.2(CC2D2A): c.1339delG (p.Ala447Argfs) deletion Likely pathogenic rs386833745 GRCh38 Chromosome 4, 15527636: 15527636
4 CC2D2A NM_001080522.2(CC2D2A): c.1537T> A (p.Trp513Arg) single nucleotide variant Likely pathogenic rs386833746 GRCh37 Chromosome 4, 15534886: 15534886
5 CC2D2A NM_001080522.2(CC2D2A): c.1537T> A (p.Trp513Arg) single nucleotide variant Likely pathogenic rs386833746 GRCh38 Chromosome 4, 15533263: 15533263
6 CC2D2A NM_001080522.2(CC2D2A): c.2486+1G> C single nucleotide variant Likely pathogenic rs386833747 GRCh37 Chromosome 4, 15554929: 15554929
7 CC2D2A NM_001080522.2(CC2D2A): c.2486+1G> C single nucleotide variant Likely pathogenic rs386833747 GRCh38 Chromosome 4, 15553306: 15553306
8 CC2D2A NM_001080522.2(CC2D2A): c.2773C> T (p.Arg925Ter) single nucleotide variant Likely pathogenic rs386833748 GRCh37 Chromosome 4, 15559074: 15559074
9 CC2D2A NM_001080522.2(CC2D2A): c.2773C> T (p.Arg925Ter) single nucleotide variant Likely pathogenic rs386833748 GRCh38 Chromosome 4, 15557451: 15557451
10 CC2D2A NM_001080522.2(CC2D2A): c.3084delG (p.Lys1029Argfs) deletion Pathogenic rs386833749 GRCh37 Chromosome 4, 15565047: 15565047
11 CC2D2A NM_001080522.2(CC2D2A): c.3084delG (p.Lys1029Argfs) deletion Pathogenic rs386833749 GRCh38 Chromosome 4, 15563424: 15563424
12 CC2D2A NM_001080522.2(CC2D2A): c.3145C> G (p.Arg1049Gly) single nucleotide variant Likely pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
13 CC2D2A NM_001080522.2(CC2D2A): c.3145C> G (p.Arg1049Gly) single nucleotide variant Likely pathogenic rs386833750 GRCh38 Chromosome 4, 15563485: 15563485
14 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh37 Chromosome 4, 15569300: 15569300
15 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 GRCh38 Chromosome 4, 15567677: 15567677
16 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh37 Chromosome 4, 15569352: 15569352
17 CC2D2A NM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met) single nucleotide variant Pathogenic rs386833752 GRCh38 Chromosome 4, 15567729: 15567729
18 CC2D2A NM_001080522.2(CC2D2A): c.3399-3C> A single nucleotide variant Likely pathogenic rs386833753 GRCh37 Chromosome 4, 15570913: 15570913
19 CC2D2A NM_001080522.2(CC2D2A): c.3399-3C> A single nucleotide variant Likely pathogenic rs386833753 GRCh38 Chromosome 4, 15569290: 15569290
20 CC2D2A NM_001080522.2(CC2D2A): c.3522_3523insTG (p.His1175Cysfs) insertion Likely pathogenic rs386833754 GRCh37 Chromosome 4, 15572047: 15572048
21 CC2D2A NM_001080522.2(CC2D2A): c.3522_3523insTG (p.His1175Cysfs) insertion Likely pathogenic rs386833754 GRCh38 Chromosome 4, 15570424: 15570425
22 CC2D2A NM_001080522.2(CC2D2A): c.3544T> C (p.Trp1182Arg) single nucleotide variant Likely pathogenic rs386833755 GRCh37 Chromosome 4, 15572069: 15572069
23 CC2D2A NM_001080522.2(CC2D2A): c.3544T> C (p.Trp1182Arg) single nucleotide variant Likely pathogenic rs386833755 GRCh38 Chromosome 4, 15570446: 15570446
24 CC2D2A NM_001080522.2(CC2D2A): c.3584delT (p.Phe1195Serfs) deletion Likely pathogenic rs386833756 GRCh37 Chromosome 4, 15572109: 15572109
25 CC2D2A NM_001080522.2(CC2D2A): c.3584delT (p.Phe1195Serfs) deletion Likely pathogenic rs386833756 GRCh38 Chromosome 4, 15570486: 15570486
26 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh37 Chromosome 4, 15581593: 15581593
27 CC2D2A NM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs) duplication Pathogenic rs386833757 GRCh38 Chromosome 4, 15579970: 15579970
28 CC2D2A NM_001080522.2(CC2D2A): c.3893T> A (p.Val1298Asp) single nucleotide variant Likely pathogenic rs386833758 GRCh37 Chromosome 4, 15581712: 15581712
29 CC2D2A NM_001080522.2(CC2D2A): c.3893T> A (p.Val1298Asp) single nucleotide variant Likely pathogenic rs386833758 GRCh38 Chromosome 4, 15580089: 15580089
30 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
31 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
32 CC2D2A NM_001080522.2(CC2D2A): c.4496+2T> A single nucleotide variant Likely pathogenic rs386833762 GRCh37 Chromosome 4, 15599090: 15599090
33 CC2D2A NM_001080522.2(CC2D2A): c.4496+2T> A single nucleotide variant Likely pathogenic rs386833762 GRCh38 Chromosome 4, 15597467: 15597467
34 CC2D2A NM_001080522.2(CC2D2A): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs386833763 GRCh37 Chromosome 4, 15511840: 15511840
35 CC2D2A NM_001080522.2(CC2D2A): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs386833763 GRCh38 Chromosome 4, 15510217: 15510217
36 CC2D2A NM_001080522.2(CC2D2A): c.685_687delGAA (p.Glu229del) deletion Conflicting interpretations of pathogenicity rs386833764 GRCh37 Chromosome 4, 15513014: 15513016
37 CC2D2A NM_001080522.2(CC2D2A): c.685_687delGAA (p.Glu229del) deletion Conflicting interpretations of pathogenicity rs386833764 GRCh38 Chromosome 4, 15511391: 15511393
38 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh37 Chromosome 4, 15516446: 15516446
39 CC2D2A NM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs) deletion Pathogenic rs386833765 GRCh38 Chromosome 4, 15514823: 15514823
40 CC2D2A NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs187003641 GRCh37 Chromosome 4, 15559105: 15559105
41 CC2D2A NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs187003641 GRCh38 Chromosome 4, 15557482: 15557482
42 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh37 Chromosome 4, 15517628: 15517628
43 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh38 Chromosome 4, 15516005: 15516005
44 CC2D2A NM_001080522.2(CC2D2A): c.1017dup (p.Glu340Argfs) duplication Pathogenic rs797044636 GRCh37 Chromosome 4, 15517627: 15517627
45 CC2D2A NM_001080522.2(CC2D2A): c.1017dup (p.Glu340Argfs) duplication Pathogenic rs797044636 GRCh38 Chromosome 4, 15516004: 15516004
46 CC2D2A NM_001080522.2(CC2D2A): c.3975+4_3975+7delAGTA deletion Pathogenic rs386833759 GRCh37 Chromosome 4, 15581798: 15581801
47 CC2D2A NM_001080522.2(CC2D2A): c.3975+4_3975+7delAGTA deletion Pathogenic rs386833759 GRCh38 Chromosome 4, 15580175: 15580178
48 CC2D2A NM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter) single nucleotide variant Pathogenic rs375278294 GRCh37 Chromosome 4, 15575830: 15575830
49 CC2D2A NM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter) single nucleotide variant Pathogenic rs375278294 GRCh38 Chromosome 4, 15574207: 15574207
50 CC2D2A NM_001080522.2(CC2D2A): c.4179+1G> A single nucleotide variant Pathogenic rs886044295 GRCh37 Chromosome 4, 15589553: 15589553

Expression for Meckel Syndrome, Type 6

Search GEO for disease gene expression data for Meckel Syndrome, Type 6.

Pathways for Meckel Syndrome, Type 6

GO Terms for Meckel Syndrome, Type 6

Cellular components related to Meckel Syndrome, Type 6 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.97 AHI1 B9D1 B9D2 C2CD3 MKS1 NPHP4
2 microtubule organizing center GO:0005815 9.92 CEP76 MKS1 NPHP4 OFD1 RPGRIP1L
3 centriole GO:0005814 9.85 AHI1 C2CD3 CEP76 MKS1 OFD1
4 cytoskeleton GO:0005856 9.83 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP76
5 cell-cell junction GO:0005911 9.81 AHI1 NPHP1 NPHP4 RPGRIP1L
6 MKS complex GO:0036038 9.8 AHI1 B9D1 B9D2 CC2D2A MKS1 TMEM67
7 ciliary transition zone GO:0035869 9.8 B9D1 B9D2 CC2D2A MKS1 NPHP4 RPGRIP1L
8 photoreceptor connecting cilium GO:0032391 9.73 NPHP1 NPHP4 RPGRIP1 RPGRIP1L
9 bicellular tight junction GO:0005923 9.72 NPHP1 NPHP4 RPGRIP1L
10 axoneme GO:0005930 9.71 RPGRIP1 RPGRIP1L WDPCP
11 non-motile cilium GO:0097730 9.67 AHI1 NPHP4 RPGRIP1
12 centriolar satellite GO:0034451 9.57 C2CD3 OFD1
13 cilium GO:0005929 9.44 AHI1 B9D2 CC2D2A DRC7 INVS MKS1
14 cytoplasm GO:0005737 10.35 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP76
15 cytosol GO:0005829 10.3 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP76
16 centrosome GO:0005813 10.1 AHI1 B9D1 B9D2 C2CD3 CEP76 MKS1
17 cell projection GO:0042995 10.03 AHI1 B9D1 B9D2 C2CD3 CC2D2A DRC7

Biological processes related to Meckel Syndrome, Type 6 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.93 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP76
2 determination of left/right symmetry GO:0007368 9.69 CC2D2A MKS1 RPGRIP1L
3 retina development in camera-type eye GO:0060041 9.67 NPHP1 NPHP4 RPGRIP1
4 camera-type eye development GO:0043010 9.67 B9D1 CC2D2A RPGRIP1L WDPCP
5 smoothened signaling pathway GO:0007224 9.65 B9D1 CC2D2A WDPCP
6 cell projection organization GO:0030030 9.65 AHI1 B9D1 B9D2 C2CD3 CC2D2A MKS1
7 embryonic digit morphogenesis GO:0042733 9.62 B9D1 C2CD3 MKS1 WDPCP
8 regulation of smoothened signaling pathway GO:0008589 9.58 C2CD3 MKS1 RPGRIP1L
9 motile cilium assembly GO:0044458 9.56 CC2D2A MKS1
10 non-motile cilium assembly GO:1905515 9.56 C2CD3 CC2D2A MKS1 RPGRIP1L
11 head development GO:0060322 9.55 MKS1 RPGRIP1L
12 embryonic brain development GO:1990403 9.54 CC2D2A MKS1
13 photoreceptor cell outer segment organization GO:0035845 9.52 AHI1 NPHP4
14 visual behavior GO:0007632 9.46 NPHP1 NPHP4
15 positive regulation of bicellular tight junction assembly GO:1903348 9.43 NPHP1 NPHP4
16 cilium assembly GO:0060271 9.32 AHI1 B9D1 B9D2 C2CD3 CC2D2A MKS1

Molecular functions related to Meckel Syndrome, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 B9D2 OFD1

Sources for Meckel Syndrome, Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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