Rare disease: Autosomal recessive primary microcephaly (Orphanet code 2512)
Associated genes:
Name: tryptophanyl-tRNA synthetase 1
Symbol: WARS1
Synonyms: lang: en
text: IFP53
lang: en
text: tryptophan tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: seryl-tRNA synthetase 1
Symbol: SARS1
Synonyms: lang: en
text: SERS
lang: en
text: serine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: citron rho-interacting serine/threonine kinase
Symbol: CIT
Synonyms: lang: en
text: CITK
lang: en
text: CRIK
lang: en
text: KIAA0949
lang: en
text: STK21
lang: en
text: serine/threonine kinase 21
GeneType: Name: gene with protein product
Name: nucleoporin 37
Symbol: NUP37
Synonyms: lang: en
text: FLJ22618
lang: en
text: MGC5585
GeneType: Name: gene with protein product
Name: non-SMC condensin II complex subunit D3
Symbol: NCAPD3
Synonyms: lang: en
text: CAP-D3
lang: en
text: FLJ42888
lang: en
text: KIAA0056
lang: en
text: hCAP-D3
lang: en
text: hHCP-6
lang: en
text: hcp-6
GeneType: Name: gene with protein product
Name: centromere protein E
Symbol: CENPE
Synonyms: lang: en
text: KIF10
lang: en
text: PPP1R61
lang: en
text: protein phosphatase 1, regulatory subunit 61
GeneType: Name: gene with protein product
Name: COPI coat complex subunit beta 2
Symbol: COPB2
Synonyms: lang: en
text: beta'-COP
lang: en
text: betaprime-COP
lang: en
text: coatomer protein complex subunit beta prime
GeneType: Name: gene with protein product
Name: trafficking protein particle complex subunit 10
Symbol: TRAPPC10
Synonyms: lang: en
text: EHOC-1
lang: en
text: TRAPP 130 kDa subunit
lang: en
text: TRS130
lang: en
text: trafficking protein particle complex subunit 130
GeneType: Name: gene with protein product
Name: minichromosome maintenance complex component 7
Symbol: MCM7
Synonyms: lang: en
text: CDC47
lang: en
text: PPP1R104
lang: en
text: protein phosphatase 1, regulatory subunit 104
GeneType: Name: gene with protein product
Name: methyltransferase 5, N6-adenosine
Symbol: METTL5
Synonyms: lang: en
text: HSPC133
GeneType: Name: gene with protein product
Name: trafficking protein particle complex subunit 14
Symbol: TRAPPC14
Synonyms: lang: en
text: FLJ10925
GeneType: Name: gene with protein product
Name: kinesin family member 14
Symbol: KIF14
Synonyms: lang: en
text: KIAA0042
GeneType: Name: gene with protein product
Name: TATA-box binding protein associated factor 13
Symbol: TAF13
Synonyms: lang: en
text: TAFII18
lang: en
text: Transcription initiation factor TFIID subunit 13
GeneType: Name: gene with protein product
Name: pyrroline-5-carboxylate reductase 2
Symbol: PYCR2
Synonyms: lang: en
text: P5CR2
GeneType: Name: gene with protein product
Name: CDK5 regulatory subunit associated protein 2
Symbol: CDK5RAP2
Synonyms: lang: en
text: C48
lang: en
text: CEP215
lang: en
text: FLJ10867
lang: en
text: centrosomin
GeneType: Name: gene with protein product
Name: centromere protein J
Symbol: CENPJ
Synonyms: lang: en
text: BM032
lang: en
text: CPAP
lang: en
text: LAG-3-associated protein
lang: en
text: LAP
lang: en
text: LIP1
lang: en
text: SASS4
lang: en
text: SCKL4
lang: en
text: Sas-4
lang: en
text: Seckel syndrome 4
lang: en
text: Spindle assembly abnormal 4
lang: en
text: centrosomal P4.1-associated protein
GeneType: Name: gene with protein product
Name: assembly factor for spindle microtubules
Symbol: ASPM
Synonyms: lang: en
text: ASP
lang: en
text: Calmbp1
lang: en
text: FLJ10517
lang: en
text: FLJ10549
GeneType: Name: gene with protein product
Name: microcephalin 1
Symbol: MCPH1
Synonyms: lang: en
text: BRCT-repeat inhibitor of TERT expression 1
lang: en
text: BRIT1
lang: en
text: FLJ12847
GeneType: Name: gene with protein product
Name: STIL centriolar assembly protein
Symbol: STIL
Synonyms: lang: en
text: MCPH7
GeneType: Name: gene with protein product
Name: WD repeat domain 62
Symbol: WDR62
Synonyms: lang: en
text: DKFZP434J046
lang: en
text: FLJ33298
GeneType: Name: gene with protein product
Name: centrosomal protein 152
Symbol: CEP152
Synonyms: lang: en
text: KIAA0912
lang: en
text: MCPH9
lang: en
text: SCKL5
lang: en
text: asterless
GeneType: Name: gene with protein product
Name: centrosomal protein 63
Symbol: CEP63
Synonyms: lang: en
text: FLJ13386
GeneType: Name: gene with protein product
Name: centrosomal protein 135
Symbol: CEP135
Synonyms: lang: en
text: FLJ13621
GeneType: Name: gene with protein product
Name: kinetochore scaffold 1
Symbol: KNL1
Synonyms: lang: en
text: AF15Q14
lang: en
text: CT29
lang: en
text: D40
lang: en
text: KIAA1570
lang: en
text: PPP1R55
lang: en
text: Spc7
lang: en
text: blinkin, bub-linking kinetochore protein
lang: en
text: cancer/testis antigen 29
lang: en
text: hKNL-1
lang: en
text: hSpc105
lang: en
text: kinetochore null 1 homolog (C. elegans)
lang: en
text: protein phosphatase 1, regulatory subunit 55
GeneType: Name: gene with protein product
Name: polyhomeotic homolog 1
Symbol: PHC1
Synonyms: lang: en
text: HPH1
lang: en
text: RAE28
GeneType: Name: gene with protein product
Name: cyclin dependent kinase 6
Symbol: CDK6
Synonyms: lang: en
text: PLSTIRE
GeneType: Name: gene with protein product
Name: SAS-6 centriolar assembly protein
Symbol: SASS6
Synonyms: lang: en
text: DKFZp761A078
lang: en
text: FLJ22097
lang: en
text: SAS-6
lang: en
text: SAS6
GeneType: Name: gene with protein product
Name: MFSD2 lysolipid transporter A, lysophospholipid
Symbol: MFSD2A
Synonyms: lang: en
text: FLJ14490
lang: en
text: SLC59A1
lang: en
text: sodium-dependent LPC symporter 1
lang: en
text: sodium-dependent lysophosphatidylcholine symporter 1
GeneType: Name: gene with protein product
Name: ankyrin repeat and LEM domain containing 2
Symbol: ANKLE2
Synonyms: lang: en
text: LEM domain containing 7
lang: en
text: LEM-domain protein 4
lang: en
text: LEMD7
lang: en
text: Lem4
GeneType: Name: gene with protein product