Chromosome Deletion Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

217 genes associated with the Chromosome Deletion phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACE angiotensin I converting enzyme
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2
APC adenomatous polyposis coli
AR androgen receptor
ARL11 ADP-ribosylation factor-like 11
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
AURKA aurora kinase A
AUTS5 Autism, susceptibility to, 5
AXIN1 axin 1
AZF1 azoospermia factor 1
BCL9 B-cell CLL/lymphoma 9
BID BH3 interacting domain death agonist
BMPR1A bone morphogenetic protein receptor, type IA
BNC1 basonuclin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
C16ORF72 chromosome 16 open reading frame 72
C5ORF66-AS2 C5orf66 antisense RNA 2
C6ORF10 chromosome 6 open reading frame 10
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCDC26 CCDC26 long non-coding RNA
CCND1 cyclin D1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CDKL5 cyclin-dependent kinase-like 5
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDY1 chromodomain protein, Y-linked, 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGNL1 cingulin-like 1
CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLDN5 claudin 5
CNTN5 contactin 5
CNTNAP4 contactin associated protein-like 4
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COMT catechol-O-methyltransferase
CPEB1 cytoplasmic polyadenylation element binding protein 1
CRHBP corticotropin releasing hormone binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CWF19L2 CWF19-like 2, cell cycle control (S. pombe)
CYAT1 immunoglobulin lambda light chain-like
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DAZ1 deleted in azoospermia 1
DAZ2 deleted in azoospermia 2
DGCR2 DiGeorge syndrome critical region gene 2
DGCR8 DGCR8 microprocessor complex subunit
DISC1 disrupted in schizophrenia 1
DLG1 discs, large homolog 1 (Drosophila)
DNAJC18 DnaJ (Hsp40) homolog, subfamily C, member 18
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DRD4 dopamine receptor D4
DUX4 double homeobox 4
ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator
EGFR epidermal growth factor receptor
ERCC2 excision repair cross-complementation group 2
EYA2 EYA transcriptional coactivator and phosphatase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F12 coagulation factor XII (Hageman factor)
FAM120C family with sequence similarity 120C
FGF6 fibroblast growth factor 6
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLT3 fms-related tyrosine kinase 3
FOXC1 forkhead box C1
FOXF2 forkhead box F2
FOXP2 forkhead box P2
GATA4 GATA binding protein 4
GCH1 GTP cyclohydrolase 1
GJB2 gap junction protein, beta 2, 26kDa
GLTSCR1 glioma tumor suppressor candidate region gene 1
GNAS GNAS complex locus
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like
GSTA1 glutathione S-transferase alpha 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2I general transcription factor IIi
HINT1 histidine triad nucleotide binding protein 1
HLA-C major histocompatibility complex, class I, C
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLX H2.0-like homeobox
HNRNPA1P13 heterogeneous nuclear ribonucleoprotein A1 pseudogene 13
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HOMER2 homer scaffolding protein 2
HRAS Harvey rat sarcoma viral oncogene homolog
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HYLS1 hydrolethalus syndrome 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
JAG1 jagged 1
JAK2 Janus kinase 2
JMY junction mediating and regulatory protein, p53 cofactor
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF2B kinesin family member 2B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
KPNB1 karyopherin (importin) beta 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LCE3B late cornified envelope 3B
LCE3C late cornified envelope 3C
LMNA lamin A/C
LOC100128966 uncharacterized LOC100128966
LOC100130172 uncharacterized LOC100130172
LOC100131361
LOC389332 uncharacterized LOC389332
LOC391834 ankyrin repeat domain 49 pseudogene
LOC642262 nuclear receptor coactivator 4 pseudogene
LRRTM2 leucine rich repeat transmembrane neuronal 2
MATR3 matrin 3
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MFAP4 microfibrillar-associated protein 4
MGMT O-6-methylguanine-DNA methyltransferase
MIR874 microRNA 874
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MT-CYB cytochrome b
MTAP methylthioadenosine phosphorylase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH11 myosin, heavy chain 11, smooth muscle
MYOG myogenin (myogenic factor 4)
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NKX2-5 NK2 homeobox 5
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NQO2 NAD(P)H dehydrogenase, quinone 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
OTX1 orthodenticle homeobox 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAIP2 poly(A) binding protein interacting protein 2
PAK2 p21 protein (Cdc42/Rac)-activated kinase 2
PCDH11X protocadherin 11 X-linked
PDGFA platelet-derived growth factor alpha polypeptide
PHF8 PHD finger protein 8
PHLDB1 pleckstrin homology-like domain, family B, member 1
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
PLXNA1 plexin A1
PROB1 proline-rich basic protein 1
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2
RB1 retinoblastoma 1
RHD Rh blood group, D antigen
RPL10AP10 ribosomal protein L10a pseudogene 10
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
SCN5A sodium channel, voltage gated, type V alpha subunit
SETBP1 SET binding protein 1
SGCE sarcoglycan, epsilon
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD4 SMAD family member 4
SNAI2 snail family zinc finger 2
SNHG4 small nucleolar RNA host gene 4
SNORA74A small nucleolar RNA, H/ACA box 74A
SNORD63 small nucleolar RNA, C/D box 63
SOX7 SRY (sex determining region Y)-box 7
SPATA24 spermatogenesis associated 24
SPINK1 serine peptidase inhibitor, Kazal type 1
SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2
SRSF2 serine/arginine-rich splicing factor 2
STX1A syntaxin 1A (brain)
SYCE1 synaptonemal complex central element protein 1
TBX1 T-box 1
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGIF2LX TGFB-induced factor homeobox 2-like, X-linked
TLR2 toll-like receptor 2
TMEM173 transmembrane protein 173
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TP53 tumor protein p53
TRPC7 transient receptor potential cation channel, subfamily C, member 7
TSPY1 testis specific protein, Y-linked 1
TUBGCP5 tubulin, gamma complex associated protein 5
TWSG1 twisted gastrulation BMP signaling modulator 1
UBE2D2 ubiquitin-conjugating enzyme E2D 2
USP9Y ubiquitin specific peptidase 9, Y-linked
VIPR2 vasoactive intestinal peptide receptor 2
WNK3 WNK lysine deficient protein kinase 3
WT1 Wilms tumor 1
XPO1 exportin 1
ZFHX4 zinc finger homeobox 4