MCPH7
MCID: MCR238
MIFTS: 40

Microcephaly 7, Primary, Autosomal Recessive (MCPH7)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly 7, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 7, Primary, Autosomal Recessive:

Name: Microcephaly 7, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 7 12 29 6 15
Mcph7 57 12 75
Microcephaly, Primary Autosomal Recessive, 7 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
microcephaly 7, primary, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612703
Disease Ontology 12 DOID:0070278
MedGen 42 C2675187
MeSH 44 D008831
UMLS 73 C2675187

Summaries for Microcephaly 7, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 7, primary, autosomal recessive: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.

MalaCards based summary : Microcephaly 7, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 7, is related to microcephaly 13, primary, autosomal recessive and seckel syndrome 5. An important gene associated with Microcephaly 7, Primary, Autosomal Recessive is STIL (STIL, Centriolar Assembly Protein), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and microcephaly

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.

Description from OMIM: 612703

Related Diseases for Microcephaly 7, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant
Microcephaly 19, Primary, Autosomal Recessive Microcephaly 20, Primary, Autosomal Recessive
Microcephaly 21, Primary, Autosomal Recessive Microcephaly 22, Primary, Autosomal Recessive
Microcephaly 23, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 7, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 microcephaly 13, primary, autosomal recessive 10.2 MCPH1 WDR62
2 seckel syndrome 5 10.2 CENPJ CEP152
3 seckel syndrome 1 10.1 CENPJ CEP152
4 seckel syndrome 2 10.1 CENPJ CEP152
5 microcephaly 8, primary, autosomal recessive 10.1 CEP63 CNTLN
6 seckel syndrome 4 10.1 CENPJ CNTLN
7 corneal dystrophy, meesmann 10.0 CEP152 CNTLN
8 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 CDK5RAP2 CENPJ CNTLN
9 cholestasis, intrahepatic, of pregnancy, 1 10.0 AURKB INCENP
10 schizencephaly 9.9 SHH WDR62
11 septopreoptic holoprosencephaly 9.9 NODAL SHH
12 midline interhemispheric variant of holoprosencephaly 9.9 NODAL SHH
13 alobar holoprosencephaly 9.9 NODAL SHH
14 microform holoprosencephaly 9.8 NODAL SHH
15 chromosome 18p deletion syndrome 9.8 NODAL SHH
16 seckel syndrome 9.8 CENPJ CEP152 CEP63 CNTLN MCPH1
17 lobar holoprosencephaly 9.8 NODAL SHH STIL
18 holoprosencephaly 9.8 NODAL SHH STIL
19 semilobar holoprosencephaly 9.8 NODAL SHH
20 primary autosomal recessive microcephaly 9.8 CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62
21 agnathia-otocephaly complex 9.8 NODAL SHH
22 microcephaly 3, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
23 microcephaly 12, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
24 microcephaly 17, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
25 microcephaly 18, primary, autosomal dominant 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
26 primary microcephaly 9.7 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
27 microcephaly 4, primary, autosomal recessive 9.6 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
28 microcephaly 5, primary, autosomal recessive 9.5 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
29 microcephaly 6, primary, autosomal recessive 9.5 C1QBP CDK5RAP2 CENPJ CEP152 CEP63 CNTLN
30 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.4 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN MCPH1
31 microcephaly 9.3 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1
32 physical disorder 9.2 CDK5RAP2 CENPJ CEP63 MCPH1 NDE1 NODAL
33 congenital nervous system abnormality 9.0 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1

Graphical network of the top 20 diseases related to Microcephaly 7, Primary, Autosomal Recessive:



Diseases related to Microcephaly 7, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 7, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sloping forehead
microcephaly, primary (up to -10 sd)

Neurologic Central Nervous System:
intellectual disability, mild to severe
lobar holoposencephaly on brain imaging (1 family)
simplified gyral pattern (1 family)

Head And Neck Face:
prominent midface


Clinical features from OMIM:

612703

Human phenotypes related to Microcephaly 7, Primary, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252
3 sloping forehead 32 HP:0000340
4 cortical gyral simplification 32 occasional (7.5%) HP:0009879

GenomeRNAi Phenotypes related to Microcephaly 7, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 G0/1 arrest GR00098-A-2 9.35 AURKB CENPJ CEP63 INCENP NDE1
2 Inhibition of centrosomal clustering GR00222-A-2 8.62 AURKB INCENP

MGI Mouse Phenotypes related to Microcephaly 7, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 AURKB C1QBP CDK5RAP2 CENPJ CEP152 CEP63
2 embryo MP:0005380 10.02 AURKB C1QBP CENPJ CEP152 INCENP NDE1
3 growth/size/body region MP:0005378 10.02 AURKB C1QBP CDK5RAP2 CENPJ CEP63 MCPH1
4 nervous system MP:0003631 9.96 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1
5 no phenotypic analysis MP:0003012 9.63 AURKB C1QBP CEP152 MCPH1 NODAL SHH
6 reproductive system MP:0005389 9.56 AURKB CDK5RAP2 CENPJ CEP63 MCPH1 NODAL
7 taste/olfaction MP:0005394 8.8 CENPJ NODAL SHH

Drugs & Therapeutics for Microcephaly 7, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 7, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 7, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 7, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 7 29 STIL

Anatomical Context for Microcephaly 7, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 7, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 7, Primary, Autosomal Recessive

Variations for Microcephaly 7, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 7, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 STIL p.Leu798Trp VAR_072404 rs398122976

ClinVar genetic disease variations for Microcephaly 7, Primary, Autosomal Recessive:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 STIL NM_003035.2(STIL): c.3715C> T (p.Gln1239Ter) single nucleotide variant Pathogenic rs121918609 GRCh37 Chromosome 1, 47716957: 47716957
2 STIL NM_003035.2(STIL): c.3715C> T (p.Gln1239Ter) single nucleotide variant Pathogenic rs121918609 GRCh38 Chromosome 1, 47251285: 47251285
3 STIL NM_003035.2(STIL): c.3655delG (p.Val1219Terfs) deletion Pathogenic rs199422207 GRCh37 Chromosome 1, 47717017: 47717017
4 STIL NM_003035.2(STIL): c.3655delG (p.Val1219Terfs) deletion Pathogenic rs199422207 GRCh38 Chromosome 1, 47251345: 47251345
5 STIL NM_003035.2(STIL): c.2826+1G> A single nucleotide variant Pathogenic rs199422206 GRCh37 Chromosome 1, 47728574: 47728574
6 STIL NM_003035.2(STIL): c.2826+1G> A single nucleotide variant Pathogenic rs199422206 GRCh38 Chromosome 1, 47262902: 47262902
7 STIL NM_003035.2(STIL): c.2855C> A (p.Ser952Tyr) single nucleotide variant Benign rs199422204 GRCh38 Chromosome 1, 47260511: 47260511
8 STIL NM_003035.2(STIL): c.2954A> G (p.His985Arg) single nucleotide variant Benign rs199422205 GRCh37 Chromosome 1, 47726084: 47726084
9 STIL NM_003035.2(STIL): c.1262A> C (p.Gln421Pro) single nucleotide variant Benign rs28472545 GRCh37 Chromosome 1, 47746868: 47746868
10 STIL NM_003035.2(STIL): c.1262A> C (p.Gln421Pro) single nucleotide variant Benign rs28472545 GRCh38 Chromosome 1, 47281196: 47281196
11 STIL NM_003035.2(STIL): c.1263A> C (p.Gln421His) single nucleotide variant Benign rs28705368 GRCh37 Chromosome 1, 47746867: 47746867
12 STIL NM_003035.2(STIL): c.1263A> C (p.Gln421His) single nucleotide variant Benign rs28705368 GRCh38 Chromosome 1, 47281195: 47281195
13 STIL NM_003035.2(STIL): c.257C> T (p.Ala86Val) single nucleotide variant Benign rs3125630 GRCh37 Chromosome 1, 47767914: 47767914
14 STIL NM_003035.2(STIL): c.257C> T (p.Ala86Val) single nucleotide variant Benign rs3125630 GRCh38 Chromosome 1, 47302242: 47302242
15 STIL NM_003035.2(STIL): c.2855C> A (p.Ser952Tyr) single nucleotide variant Benign rs199422204 GRCh37 Chromosome 1, 47726183: 47726183
16 STIL NM_003035.2(STIL): c.2954A> G (p.His985Arg) single nucleotide variant Benign rs199422205 GRCh38 Chromosome 1, 47260412: 47260412
17 STIL NM_003035.2(STIL): c.3434C> T (p.Ala1145Val) single nucleotide variant Likely benign rs3766317 GRCh37 Chromosome 1, 47717238: 47717238
18 STIL NM_003035.2(STIL): c.3434C> T (p.Ala1145Val) single nucleotide variant Likely benign rs3766317 GRCh38 Chromosome 1, 47251566: 47251566
19 STIL NM_001048166.1(STIL): c.2393T> G (p.Leu798Trp) single nucleotide variant Pathogenic rs398122976 GRCh37 Chromosome 1, 47735529: 47735529
20 STIL NM_001048166.1(STIL): c.2393T> G (p.Leu798Trp) single nucleotide variant Pathogenic rs398122976 GRCh38 Chromosome 1, 47269857: 47269857
21 STIL NM_003035.2(STIL): c.2951A> G (p.His984Arg) single nucleotide variant Benign/Likely benign rs13376679 GRCh37 Chromosome 1, 47726087: 47726087
22 STIL NM_003035.2(STIL): c.2951A> G (p.His984Arg) single nucleotide variant Benign/Likely benign rs13376679 GRCh38 Chromosome 1, 47260415: 47260415
23 STIL NM_003035.2(STIL): c.3483T> C (p.Pro1161=) single nucleotide variant Benign rs2758735 GRCh37 Chromosome 1, 47717189: 47717189
24 STIL NM_003035.2(STIL): c.3483T> C (p.Pro1161=) single nucleotide variant Benign rs2758735 GRCh38 Chromosome 1, 47251517: 47251517
25 STIL NM_003035.2(STIL): c.1137T> C (p.Ser379=) single nucleotide variant Uncertain significance rs587784447 GRCh38 Chromosome 1, 47282456: 47282456
26 STIL NM_003035.2(STIL): c.3426C> T (p.Pro1142=) single nucleotide variant Uncertain significance rs144628824 GRCh37 Chromosome 1, 47717246: 47717246
27 STIL NM_003035.2(STIL): c.3426C> T (p.Pro1142=) single nucleotide variant Uncertain significance rs144628824 GRCh38 Chromosome 1, 47251574: 47251574
28 STIL NM_003035.2(STIL): c.3154G> A (p.Gly1052Ser) single nucleotide variant Uncertain significance rs201354921 GRCh37 Chromosome 1, 47717518: 47717518
29 STIL NM_003035.2(STIL): c.3154G> A (p.Gly1052Ser) single nucleotide variant Uncertain significance rs201354921 GRCh38 Chromosome 1, 47251846: 47251846
30 STIL NM_003035.2(STIL): c.3064G> T (p.Val1022Leu) single nucleotide variant Uncertain significance rs144586803 GRCh37 Chromosome 1, 47725974: 47725974
31 STIL NM_003035.2(STIL): c.3064G> T (p.Val1022Leu) single nucleotide variant Uncertain significance rs144586803 GRCh38 Chromosome 1, 47260302: 47260302
32 STIL NM_003035.2(STIL): c.2948C> T (p.Thr983Ile) single nucleotide variant Uncertain significance rs587784450 GRCh37 Chromosome 1, 47726090: 47726090
33 STIL NM_003035.2(STIL): c.2948C> T (p.Thr983Ile) single nucleotide variant Uncertain significance rs587784450 GRCh38 Chromosome 1, 47260418: 47260418
34 STIL NM_003035.2(STIL): c.2852G> A (p.Ser951Asn) single nucleotide variant Uncertain significance rs35447382 GRCh37 Chromosome 1, 47726186: 47726186
35 STIL NM_003035.2(STIL): c.2852G> A (p.Ser951Asn) single nucleotide variant Uncertain significance rs35447382 GRCh38 Chromosome 1, 47260514: 47260514
36 STIL NM_003035.2(STIL): c.2542G> A (p.Val848Ile) single nucleotide variant Uncertain significance rs587784449 GRCh37 Chromosome 1, 47735380: 47735380
37 STIL NM_003035.2(STIL): c.2542G> A (p.Val848Ile) single nucleotide variant Uncertain significance rs587784449 GRCh38 Chromosome 1, 47269708: 47269708
38 STIL NM_001048166.1(STIL): c.2021_2023delGTT (p.Cys674del) deletion Uncertain significance rs587784448 GRCh37 Chromosome 1, 47746107: 47746109
39 STIL NM_001048166.1(STIL): c.2021_2023delGTT (p.Cys674del) deletion Uncertain significance rs587784448 GRCh38 Chromosome 1, 47280435: 47280437
40 STIL NM_003035.2(STIL): c.1137T> C (p.Ser379=) single nucleotide variant Uncertain significance rs587784447 GRCh37 Chromosome 1, 47748128: 47748128
41 STIL NM_003035.2(STIL): c.1136C> T (p.Ser379Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149185431 GRCh37 Chromosome 1, 47748129: 47748129
42 STIL NM_003035.2(STIL): c.1136C> T (p.Ser379Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149185431 GRCh38 Chromosome 1, 47282457: 47282457
43 STIL NM_003035.2(STIL): c.895T> A (p.Phe299Ile) single nucleotide variant Likely pathogenic rs587784452 GRCh37 Chromosome 1, 47755235: 47755235
44 STIL NM_003035.2(STIL): c.895T> A (p.Phe299Ile) single nucleotide variant Likely pathogenic rs587784452 GRCh38 Chromosome 1, 47289563: 47289563
45 STIL NM_003035.2(STIL): c.467A> G (p.His156Arg) single nucleotide variant Uncertain significance rs141352790 GRCh37 Chromosome 1, 47765811: 47765811
46 STIL NM_003035.2(STIL): c.467A> G (p.His156Arg) single nucleotide variant Uncertain significance rs141352790 GRCh38 Chromosome 1, 47300139: 47300139
47 STIL NM_003035.2(STIL): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs147160336 GRCh37 Chromosome 1, 47767944: 47767944
48 STIL NM_003035.2(STIL): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs147160336 GRCh38 Chromosome 1, 47302272: 47302272
49 STIL NM_003035.2(STIL): c.36G> A (p.Met12Ile) single nucleotide variant Uncertain significance rs587784451 GRCh37 Chromosome 1, 47775956: 47775956
50 STIL NM_003035.2(STIL): c.36G> A (p.Met12Ile) single nucleotide variant Uncertain significance rs587784451 GRCh38 Chromosome 1, 47310284: 47310284

Expression for Microcephaly 7, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 7, Primary, Autosomal Recessive.

Pathways for Microcephaly 7, Primary, Autosomal Recessive

GO Terms for Microcephaly 7, Primary, Autosomal Recessive

Cellular components related to Microcephaly 7, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.8 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 NDE1
2 microtubule GO:0005874 9.78 CDK5RAP2 CENPJ INCENP NDE1
3 spindle GO:0005819 9.71 AURKB INCENP NDE1
4 kinetochore GO:0000776 9.69 AURKB INCENP NDE1
5 spindle pole GO:0000922 9.67 CDK5RAP2 CEP63 WDR62
6 centriole GO:0005814 9.63 CENPJ CEP152 CEP63 CNTLN STIL WDR62
7 chromosome, centromeric region GO:0000775 9.61 AURKB INCENP NDE1
8 centrosome GO:0005813 9.56 CDK5RAP2 CENPJ CEP152 CEP63 CNTLN NDE1
9 pericentriolar material GO:0000242 9.52 CDK5RAP2 CEP152
10 spindle pole centrosome GO:0031616 9.46 AURKB NDE1
11 chromocenter GO:0010369 9.4 AURKB INCENP
12 cytoskeleton GO:0005856 9.36 AURKB CDK5RAP2 CENPJ CEP152 CEP63 CNTLN
13 cytoplasm GO:0005737 10.15 AURKB C1QBP CDK5RAP2 CENPJ CEP152 CEP63
14 cytosol GO:0005829 10.1 AURKB C1QBP CDK5RAP2 CENPJ CEP152 CEP63

Biological processes related to Microcephaly 7, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.83 AURKB CENPJ CEP63 INCENP NDE1
2 chromosome segregation GO:0007059 9.75 CDK5RAP2 INCENP NDE1
3 cerebral cortex development GO:0021987 9.73 MCPH1 NDE1 WDR62
4 determination of left/right symmetry GO:0007368 9.72 NODAL SHH STIL
5 G2/M transition of mitotic cell cycle GO:0000086 9.72 CDK5RAP2 CENPJ CEP152 CEP63 NDE1
6 forebrain development GO:0030900 9.71 NDE1 SHH STIL
7 smoothened signaling pathway GO:0007224 9.7 CENPJ SHH STIL
8 heart looping GO:0001947 9.67 NODAL SHH STIL
9 ciliary basal body-plasma membrane docking GO:0097711 9.65 CDK5RAP2 CENPJ CEP152 CEP63 NDE1
10 vasculature development GO:0001944 9.63 NODAL SHH
11 anatomical structure formation involved in morphogenesis GO:0048646 9.62 NODAL SHH
12 embryonic pattern specification GO:0009880 9.62 NODAL SHH
13 microtubule nucleation GO:0007020 9.61 CENPJ NDE1
14 neuroblast proliferation GO:0007405 9.61 NDE1 SHH
15 protein localization to centrosome GO:0071539 9.59 MCPH1 STIL
16 digestive tract morphogenesis GO:0048546 9.58 NODAL SHH
17 mitotic spindle organization GO:0007052 9.58 AURKB STIL WDR62
18 microtubule organizing center organization GO:0031023 9.57 CDK5RAP2 NDE1
19 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.55 CDK5RAP2 CENPJ CEP152 CEP63 NDE1
20 establishment of mitotic spindle orientation GO:0000132 9.54 CDK5RAP2 MCPH1 NDE1
21 regulation of centriole replication GO:0046599 9.51 CENPJ STIL
22 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.48 CEP152 CEP63
23 formation of anatomical boundary GO:0048859 9.46 NODAL SHH
24 centrosome duplication GO:0051298 9.26 CENPJ CEP152 NDE1 STIL
25 centriole replication GO:0007099 9.02 CDK5RAP2 CENPJ CEP152 CEP63 WDR62
26 negative regulation of transcription by RNA polymerase II GO:0000122 10 AURKB C1QBP MCPH1 NODAL SHH

Molecular functions related to Microcephaly 7, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.26 CDK5RAP2 CENPJ CEP152 CNTLN
2 morphogen activity GO:0016015 8.62 NODAL SHH

Sources for Microcephaly 7, Primary, Autosomal Recessive

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
Content
Loading form....