haploinsufficiency Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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Genes

235 genes co-occuring with the biological term haploinsufficiency in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACVRL1 activin A receptor type II-like 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ANXA7 annexin A7
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOE apolipoprotein E
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
BCO1 beta-carotene oxygenase 1
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRCA1 breast cancer 1, early onset
BSX brain-specific homeobox
BTG4 B-cell translocation gene 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C10ORF11 chromosome 10 open reading frame 11
C9 complement component 9
CA4 carbonic anhydrase IV
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CADPS2 Ca++-dependent secretion activator 2
CAPN5 calpain 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CBFB core-binding factor, beta subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP2 contactin associated protein-like 2
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A2 collagen, type V, alpha 2
COQ4 coenzyme Q4
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSF1R colony stimulating factor 1 receptor
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen)
CTCF CCCTC-binding factor (zinc finger protein)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUBN cubilin (intrinsic factor-cobalamin receptor)
DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
DICER1 dicer 1, ribonuclease type III
DIRC2 disrupted in renal carcinoma 2
DISP1 dispatched homolog 1 (Drosophila)
DSG1 desmoglein 1
DSP desmoplakin
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EBF1 early B-cell factor 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EGR1 early growth response 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELAVL4 ELAV like neuron-specific RNA binding protein 4
ELN elastin
ERCC4 excision repair cross-complementation group 4
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERMARD ER membrane-associated RNA degradation
ETV6 ets variant 6
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FLG filaggrin
FLNC filamin C, gamma
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FOXO3 forkhead box O3
FOXP1 forkhead box P1
FTMT ferritin mitochondrial
FZD4 frizzled class receptor 4
GATA2 GATA binding protein 2
GATA6 GATA binding protein 6
GCK glucokinase (hexokinase 4)
GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2
GDF5 growth differentiation factor 5
GNAS GNAS complex locus
GRN granulin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1A guanylate cyclase activator 1A (retina)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HDAC4 histone deacetylase 4
HIC2 hypermethylated in cancer 2
HNF1A HNF1 homeobox A
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1)
IGF1R insulin-like growth factor 1 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IRF6 interferon regulatory factor 6
IRF8 interferon regulatory factor 8
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNRG potassium channel regulator
KLF1 Kruppel-like factor 1 (erythroid)
KLF4 Kruppel-like factor 4 (gut)
KMT2A lysine (K)-specific methyltransferase 2A
KRIT1 KRIT1, ankyrin repeat containing
KRT14 keratin 14, type I
L3MBTL1 l(3)mbt-like 1 (Drosophila)
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LPP LIM domain containing preferred translocation partner in lipoma
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MBD5 methyl-CpG binding domain protein 5
MC3R melanocortin 3 receptor
MECOM MDS1 and EVI1 complex locus
MED13L mediator complex subunit 13-like
MEF2C myocyte enhancer factor 2C
MIR17HG miR-17-92 cluster host gene
MITF microphthalmia-associated transcription factor
MSTN myostatin
MYBPC3 myosin binding protein C, cardiac
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH9 myosin, heavy chain 9, non-muscle
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NFIA nuclear factor I/A
NGF nerve growth factor (beta polypeptide)
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NPAS3 neuronal PAS domain protein 3
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NRG1 neuregulin 1
NRGN neurogranin (protein kinase C substrate, RC3)
NSD1 nuclear receptor binding SET domain protein 1
OPA1 optic atrophy 1 (autosomal dominant)
PACRG PARK2 co-regulated
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX5 paired box 5
PAX6 paired box 6
PAX8 paired box 8
PAX9 paired box 9
PDE4D phosphodiesterase 4D, cAMP-specific
PHF21A PHD finger protein 21A
PINK1 PTEN induced putative kinase 1
PKP2 plakophilin 2
PPARG peroxisome proliferator-activated receptor gamma
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRPF31 pre-mRNA processing factor 31
PRRT2 proline-rich transmembrane protein 2
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAD51 RAD51 recombinase
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBM5 RNA binding motif protein 5
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNF135 ring finger protein 135
RORA RAR-related orphan receptor A
RPA1 replication protein A1, 70kDa
RPS14 ribosomal protein S14
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCRIB scribbled planar cell polarity protein
SENP2 SUMO1/sentrin/SMT3 specific peptidase 2
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOX short stature homeobox
SIM1 single-minded family bHLH transcription factor 1
SLBP stem-loop binding protein
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD3 SMAD family member 3
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX5 SRY (sex determining region Y)-box 5
SPAST spastin
SPINK5 serine peptidase inhibitor, Kazal type 5
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
STAT5A signal transducer and activator of transcription 5A
STXBP1 syntaxin binding protein 1
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TCF12 transcription factor 12
TCF4 transcription factor 4
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TMPRSS2 transmembrane protease, serine 2
TMX3 thioredoxin-related transmembrane protein 3
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNS3 tensin 3
TNXB tenascin XB
TOB2 transducer of ERBB2, 2
TP53 tumor protein p53
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TSC1 tuberous sclerosis 1
TSHR thyroid stimulating hormone receptor
TSHZ1 teashirt zinc finger homeobox 1
TSPAN12 tetraspanin 12
TUBA1A tubulin, alpha 1a
TWIST1 twist family bHLH transcription factor 1
UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2