MKS4
MCID: MCK033
MIFTS: 46

Meckel Syndrome, Type 4 (MKS4)

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 4

MalaCards integrated aliases for Meckel Syndrome, Type 4:

Name: Meckel Syndrome, Type 4 56 39 71
Meckel Syndrome 4 56 12 73 13 15
Mks4 56 12 73
Meckel-Gruber Syndrome, Type 4 56 12
Meckel Syndrome Type 4 29 6

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

31
meckel syndrome, type 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 4

OMIM : 56 Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (611134)

MalaCards based summary : Meckel Syndrome, Type 4, also known as meckel syndrome 4, is related to leber congenital amaurosis 6 and bardet-biedl syndrome 13. An important gene associated with Meckel Syndrome, Type 4 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, bone and liver, and related phenotypes are hydrocephalus and bowing of the long bones

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.

UniProtKB/Swiss-Prot : 73 Meckel syndrome 4: 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.

Related Diseases for Meckel Syndrome, Type 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 6 10.3 MKS1 CEP290
2 bardet-biedl syndrome 13 10.2 MKS1 CEP290
3 orofaciodigital syndrome iv 10.2 TMEM231 TMEM216
4 pathologic nystagmus 10.2 TMEM67 MKS1 CEP290
5 congenital hepatic fibrosis 10.2 TMEM67 RPGRIP1L CC2D2A
6 bardet-biedl syndrome 8 10.1 MKS1 CEP290
7 ciliopathy 10.1 TMEM67 RPGRIP1L
8 coach syndrome 10.1 TMEM67 RPGRIP1L CC2D2A
9 bardet-biedl syndrome 6 10.1 MKS1 CEP290
10 short-rib thoracic dysplasia 6 with or without polydactyly 10.0 TMEM67 TMEM216 TCTN2
11 polycystic kidney disease 2 with or without polycystic liver disease 10.0 TMEM67 MKS1 ARL13B
12 physical disorder 9.9 MKS1 CEP290 ARL13B
13 retinal aplasia 9.9 NPHP1 CEP290
14 bardet-biedl syndrome 3 9.9 MKS1 CEP290
15 ellis-van creveld syndrome 9.9 TMEM216 RPGRIP1L ARL13B
16 oligohydramnios 9.9 TMEM67 TMEM231 MKS1 CC2D2A
17 joubert syndrome 16 9.9 TMEM231 TMEM216 TMEM138
18 joubert syndrome 15 9.9 TMEM237 TCTN2
19 joubert syndrome 13 9.8 TMEM67 TMEM216 TCTN2 CC2D2A
20 joubert syndrome 20 9.8 TMEM67 TMEM237 TMEM231
21 bardet-biedl syndrome 10 9.8 TMEM216 NPHP1
22 juvenile nephronophthisis 9.8 NPHP3 NPHP1
23 nephronophthisis 18 9.8 NPHP3 NPHP1
24 cogan syndrome 9.7 NPHP1 CEP290 CC2D2A
25 caroli disease 9.7 NPHP3 NPHP1
26 nephronophthisis 13 9.7 NPHP3 NPHP1 CEP290
27 nephronophthisis 16 9.7 NPHP3 NPHP1 CEP290
28 renal-hepatic-pancreatic dysplasia 9.7 NPHP3 NPHP1 CEP290
29 bardet-biedl syndrome 14 9.6 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
30 encephalocele 9.5 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
31 joubert syndrome 9 9.4 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
32 joubert syndrome 21 9.4 TMEM138 NPHP1 ARL13B
33 nephronophthisis 12 9.3 TMEM138 NPHP3 NPHP1 CEP290
34 nephronophthisis 19 9.3 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
35 nephronophthisis 1 9.3 NPHP3 NPHP1 MKS1 B9D2 B9D1
36 retinal degeneration 9.2 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
37 short-rib thoracic dysplasia 1 with or without polydactyly 9.1 TMEM67 RPGRIP1L NPHP1 CC2D2A ARL13B
38 joubert syndrome 14 9.1 TMEM237 TMEM231 TMEM216 RPGRIP1L B9D2 B9D1
39 arima syndrome 9.1 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
40 meckel syndrome, type 7 9.0 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
41 hydrolethalus syndrome 1 9.0 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
42 joubert syndrome 8 8.8 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
43 apraxia 8.8 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CEP290
44 nephronophthisis 14 8.8 TMEM67 TCTN2 RPGRIP1L NPHP1 CEP290 CC2D2A
45 nephronophthisis 11 8.8 TMEM67 TMEM216 RPGRIP1L NPHP3 NPHP1 MKS1
46 nephronophthisis 9 8.7 TMEM67 TMEM216 RPGRIP1L NPHP3 NPHP1 MKS1
47 joubert syndrome 10 8.7 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 CC2D2A
48 joubert syndrome 6 8.6 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
49 nephronophthisis 7 8.6 TMEM67 TMEM138 RPGRIP1L NPHP3 NPHP1 MKS1
50 joubert syndrome 24 8.5 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 4:



Diseases related to Meckel Syndrome, Type 4

Symptoms & Phenotypes for Meckel Syndrome, Type 4

Human phenotypes related to Meckel Syndrome, Type 4:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 occasional (7.5%) HP:0000238
2 bowing of the long bones 31 occasional (7.5%) HP:0006487
3 microcephaly 31 occasional (7.5%) HP:0000252
4 cleft palate 31 occasional (7.5%) HP:0000175
5 microphthalmia 31 occasional (7.5%) HP:0000568
6 anencephaly 31 occasional (7.5%) HP:0002323
7 molar tooth sign on mri 31 occasional (7.5%) HP:0002419
8 renal cyst 31 HP:0000107
9 intrauterine growth retardation 31 HP:0001511
10 ventricular septal defect 31 HP:0001629
11 atrial septal defect 31 HP:0001631
12 dandy-walker malformation 31 HP:0001305
13 agenesis of cerebellar vermis 31 HP:0002335
14 meningocele 31 HP:0002435
15 hypoplasia of the corpus callosum 31 HP:0002079
16 postaxial hand polydactyly 31 HP:0001162
17 encephalocele 31 HP:0002084
18 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
intrauterine growth retardation

Head And Neck Mouth:
cleft palate (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Skeletal Feet:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Skeletal Limbs:
bowing of the long bones (rare)

Abdomen Liver:
bile duct proliferation
ductal plate malformations

Head And Neck Eyes:
microphthalmia (rare)

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
dandy-walker malformation (in some patients)
hydrocephalus (in some patients)
cerebellar vermis hypoplasia (in some patients)
encephalocele, occipital
meningocele, occipital
more
Cardiovascular Heart:
septal defects (in some patients)

Clinical features from OMIM:

611134

MGI Mouse Phenotypes related to Meckel Syndrome, Type 4:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
2 cardiovascular system MP:0005385 10.22 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
3 embryo MP:0005380 10.16 ARL13B B9D1 B9D2 CC2D2A MKS1 NPHP3
4 craniofacial MP:0005382 10.15 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP3
5 growth/size/body region MP:0005378 10.13 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
6 nervous system MP:0003631 10.03 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
7 digestive/alimentary MP:0005381 10.02 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
8 mortality/aging MP:0010768 10.02 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
9 limbs/digits/tail MP:0005371 10.01 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
10 liver/biliary system MP:0005370 9.85 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
11 renal/urinary system MP:0005367 9.85 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
12 respiratory system MP:0005388 9.43 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
13 vision/eye MP:0005391 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1

Drugs & Therapeutics for Meckel Syndrome, Type 4

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 4

Genetic Tests for Meckel Syndrome, Type 4

Genetic tests related to Meckel Syndrome, Type 4:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 4 29 CEP290

Anatomical Context for Meckel Syndrome, Type 4

MalaCards organs/tissues related to Meckel Syndrome, Type 4:

40
Kidney, Bone, Liver, Eye

Publications for Meckel Syndrome, Type 4

Articles related to Meckel Syndrome, Type 4:

(show all 11)
# Title Authors PMID Year
1
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 61 56 6
17564974 2007
2
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 56 6
17705300 2008
3
Clinical utility gene card for: Meckel syndrome. 6
21368913 2011
4
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 6
17345604 2007
5
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 56
17160906 2007
6
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. 61
31840411 2020
7
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. 61
26982032 2016
8
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 61
23954617 2013
9
Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. 61
22699515 2012
10
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 61
20177705 2010
11
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 61
19777577 2009

Variations for Meckel Syndrome, Type 4

ClinVar genetic disease variations for Meckel Syndrome, Type 4:

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter)SNV Pathogenic 217636 rs575767207 12:88472889-88472889 12:88079112-88079112
2 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
3 CEP290 NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
4 CEP290 NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter)SNV Pathogenic 217630 rs863225185 12:88524060-88524060 12:88130283-88130283
5 CEP290 NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
6 CEP290 NM_025114.3(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
7 CEP290 NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
8 CEP290 CEP290, 4-BP DEL, 384TAGAdeletion Pathogenic 1340
9 CEP290 CEP290, EX3, T-A, +2SNV Pathogenic 1341
10 CEP290 NM_025114.3(CEP290):c.613C>T (p.Arg205Ter)SNV Pathogenic 1342 rs137852835 12:88524101-88524101 12:88130324-88130324
11 CEP290 CEP290, 1-BP DEL, 5489Adeletion Pathogenic 1344
12 CEP290 NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs)short repeat Pathogenic 56729 rs386834148 12:88514913-88514914 12:88121136-88121137
13 CEP290 NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs)deletion Pathogenic 56730 rs386834149 12:88513962-88513962 12:88120185-88120185
14 CEP290 NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter)SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488
15 CEP290 NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs)deletion Pathogenic 56738 rs386834157 12:88530474-88530477 12:88136697-88136700
16 CEP290 NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs)deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
17 CEP290 NM_025114.3(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
18 CEP290 NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter)SNV Pathogenic 530911 rs776645403 12:88519134-88519134 12:88125357-88125357
19 CEP290 NM_025114.3(CEP290):c.5745dup (p.Lys1916Terfs)duplication Pathogenic 545704 rs751361090 12:88465667-88465668 12:88071890-88071891
20 CEP290 NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter)SNV Pathogenic/Likely pathogenic 523768 rs1170451277 12:88513984-88513984 12:88120207-88120207
21 CEP290 NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter)SNV Likely pathogenic 212730 rs797044604 12:88480227-88480227 12:88086450-88086450
22 CEP290 NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)short repeat Likely pathogenic 804466 12:88523588-88523589 12:88129811-88129812
23 CEP290 NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs)deletion Likely pathogenic 56740 rs386834159 12:88465563-88465563 12:88071786-88071786
24 CEP290 NM_025114.3(CEP290):c.289G>T (p.Glu97Ter)SNV Likely pathogenic 56734 rs386834153 12:88532930-88532930 12:88139153-88139153
25 CEP290 NM_025114.3(CEP290):c.3175delA (p.Ile1059Terfs)deletion Likely pathogenic 56735 rs62640570 12:88487681-88487681 12:88093904-88093904
26 CEP290 NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs)deletion Likely pathogenic 56736 rs386834155 12:88486472-88486473 12:88092695-88092696
27 CEP290 NM_025114.3(CEP290):c.381_382delAGinsT (p.Lys127Asnfs)indel Likely pathogenic 56737 rs386834156 12:88530479-88530480 12:88136702-88136703
28 CEP290 NM_025114.3(CEP290):c.180+2T>ASNV Likely pathogenic 56731 rs386834150 12:88534731-88534731 12:88140954-88140954
29 CEP290 NM_025114.3(CEP290):c.1860_1861delAA (p.Asp622Phefs)deletion Likely pathogenic 56732 rs386834151 12:88508923-88508924 12:88115146-88115147
30 CEP290 NM_025114.3(CEP290):c.4437+1G>ASNV Conflicting interpretations of pathogenicity 285948 rs760915898 12:88479815-88479815 12:88086038-88086038
31 CEP290 NM_025114.3(CEP290):c.963T>A (p.Asp321Glu)SNV Uncertain significance 286797 rs774072453 12:88520195-88520195 12:88126418-88126418
32 CEP290 NM_025114.3(CEP290):c.6629G>A (p.Arg2210His)SNV Uncertain significance 377291 rs371833544 12:88453691-88453691 12:88059914-88059914
33 CEP290 NM_025114.3(CEP290):c.1670G>A (p.Arg557His)SNV Uncertain significance 418122 rs184018899 12:88512301-88512301 12:88118524-88118524
34 CEP290 NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly)SNV Uncertain significance 461788 rs184323010 12:88454737-88454737 12:88060960-88060960
35 CEP290 NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg)SNV Uncertain significance 166835 rs201504946 12:88480220-88480220 12:88086443-88086443
36 CEP290 NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn)SNV Uncertain significance 196713 rs201982308 12:88483178-88483178 12:88089401-88089401
37 CEP290 NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys)SNV Uncertain significance 197084 rs373307908 12:88472949-88472949 12:88079172-88079172
38 CEP290 NM_025114.3(CEP290):c.4938A>G (p.Lys1646=)SNV Uncertain significance 241585 rs371582975 12:88476882-88476882 12:88083105-88083105
39 CEP290 NM_025114.3(CEP290):c.2551G>A (p.Val851Ile)SNV Uncertain significance 241583 rs764963626 12:88500808-88500808 12:88107031-88107031
40 CEP290 NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val)SNV Uncertain significance 281249 rs183071230 12:88465084-88465084 12:88071307-88071307

Expression for Meckel Syndrome, Type 4

Search GEO for disease gene expression data for Meckel Syndrome, Type 4.

Pathways for Meckel Syndrome, Type 4

GO Terms for Meckel Syndrome, Type 4

Cellular components related to Meckel Syndrome, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.26 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
2 cytoskeleton GO:0005856 10.02 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 MKS1
3 centrosome GO:0005813 9.91 TMEM67 RPGRIP1L MKS1 CEP290 B9D2 B9D1
4 MKS complex GO:0036038 9.91 TMEM67 TMEM231 TMEM216 TCTN2 MKS1 CEP290
5 ciliary transition zone GO:0035869 9.9 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L NPHP1
6 ciliary basal body GO:0036064 9.77 RPGRIP1L MKS1 CEP290 B9D2 B9D1
7 cilium GO:0005929 9.77 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 RPGRIP1L
8 ciliary membrane GO:0060170 9.71 TMEM67 TMEM231 TCTN2 ARL13B
9 photoreceptor connecting cilium GO:0032391 9.63 RPGRIP1L NPHP1 CEP290
10 cell projection GO:0042995 9.5 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2

Biological processes related to Meckel Syndrome, Type 4 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP1 MKS1
2 determination of left/right symmetry GO:0007368 9.77 RPGRIP1L NPHP3 MKS1 CC2D2A ARL13B
3 smoothened signaling pathway GO:0007224 9.73 TMEM231 TCTN2 MKS1 CC2D2A B9D1 ARL13B
4 cell projection organization GO:0030030 9.73 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
5 non-motile cilium assembly GO:1905515 9.72 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
6 camera-type eye development GO:0043010 9.71 TMEM231 RPGRIP1L CC2D2A B9D1
7 embryonic digit morphogenesis GO:0042733 9.63 TMEM231 MKS1 B9D1
8 vasculature development GO:0001944 9.57 TMEM231 B9D1
9 regulation of smoothened signaling pathway GO:0008589 9.56 RPGRIP1L MKS1
10 motile cilium assembly GO:0044458 9.55 MKS1 CC2D2A
11 head development GO:0060322 9.54 RPGRIP1L MKS1
12 embryonic brain development GO:1990403 9.52 MKS1 CC2D2A
13 neuroepithelial cell differentiation GO:0060563 9.51 TMEM231 B9D1
14 protein localization to ciliary transition zone GO:1904491 9.49 TCTN2 CC2D2A
15 neural tube patterning GO:0021532 9.48 RPGRIP1L ARL13B
16 cilium assembly GO:0060271 9.47 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
17 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.43 NPHP3 MKS1

Sources for Meckel Syndrome, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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