abnormality of the cerebral ventricles Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the cerebral ventricles. (Human Phenotype Ontology, HP_0002118)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002118
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Genes

358 genes associated with the abnormality of the cerebral ventricles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHI1 Abelson helper integration site 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
AMER1 APC membrane recruitment protein 1
AMPD2 adenosine monophosphate deaminase 2
ANKRD11 ankyrin repeat domain 11
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARSB arylsulfatase B
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CCDC88C coiled-coil domain containing 88C
CCND2 cyclin D2
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CEP83 centrosomal protein 83kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLCN7 chloride channel, voltage-sensitive 7
CLIC2 chloride intracellular channel 2
CLP1 cleavage and polyadenylation factor I subunit 1
CNTN4 contactin 4
COG8 component of oligomeric golgi complex 8
COL18A1 collagen, type XVIII, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRBN cereblon
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTSC cathepsin C
CTSK cathepsin K
D2HGDH D-2-hydroxyglutarate dehydrogenase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DMPK dystrophia myotonica-protein kinase
DNAI1 dynein, axonemal, intermediate chain 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FNBP4 formin binding protein 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTO fat mass and obesity associated
FUZ fuzzy planar cell polarity protein
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GFAP glial fibrillary acidic protein
GLB1 galactosidase, beta 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GPC3 glypican 3
GPC4 glypican 4
GPSM2 G-protein signaling modulator 2
GRIP1 glutamate receptor interacting protein 1
GRM1 glutamate receptor, metabotropic 1
GRN granulin
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
JAM3 junctional adhesion molecule 3
KANK1 KN motif and ankyrin repeat domains 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LAMA1 laminin, alpha 1
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
LIG4 ligase IV, DNA, ATP-dependent
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCPH1 microcephalin 1
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MIPOL1 mirror-image polydactyly 1
MKS1 Meckel syndrome, type 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPDZ multiple PDZ domain protein
MRPS16 mitochondrial ribosomal protein S16
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTM1 myotubularin 1
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NEK1 NIMA-related kinase 1
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOTCH1 notch 1
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OPHN1 oligophrenin 1
OSTM1 osteopetrosis associated transmembrane protein 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PEX1 peroxisomal biogenesis factor 1
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLG plasminogen
PNKP polynucleotide kinase 3'-phosphatase
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
RAB18 RAB18, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RNASEH2A ribonuclease H2, subunit A
RNASET2 ribonuclease T2
RNF213 ring finger protein 213
ROGDI rogdi homolog (Drosophila)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNIP1 Smad nuclear interacting protein 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SPG11 spastic paraplegia 11 (autosomal recessive)
STAC3 SH3 and cysteine rich domain 3
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBC1D24 TBC1 domain family, member 24
TBCE tubulin folding cofactor E
TBX15 T-box 15
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TERT telomerase reverse transcriptase
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNI3 troponin I type 3 (cardiac)
TP53 tumor protein p53
TREM2 triggering receptor expressed on myeloid cells 2
TRIM37 tripartite motif containing 37
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TUBA1A tubulin, alpha 1a
TUBA8 tubulin, alpha 8
TUBB2A tubulin, beta 2A class IIa
TYROBP TYRO protein tyrosine kinase binding protein
UBE3B ubiquitin protein ligase E3B
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZNF423 zinc finger protein 423
ZNF592 zinc finger protein 592
ZSWIM6 zinc finger, SWIM-type containing 6