homozygosity Gene Set

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

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ACE angiotensin I converting enzyme
ACHE acetylcholinesterase (Yt blood group)
ACO2 aconitase 2, mitochondrial
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADRA2A adrenoceptor alpha 2A
ADRA2C adrenoceptor alpha 2C
ADRB1 adrenoceptor beta 1
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALG8 ALG8, alpha-1,3-glucosyltransferase
APC adenomatous polyposis coli
APOB apolipoprotein B
APOC3 apolipoprotein C-III
APOE apolipoprotein E
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28
ARSA arylsulfatase A
ASPA aspartoacylase
ATM ATM serine/threonine kinase
ATP13A2 ATPase type 13A2
ATXN3 ataxin 3
AUH AU RNA binding protein/enoyl-CoA hydratase
BCHE butyrylcholinesterase
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BTNL2 butyrophilin-like 2
C5 complement component 5
CALHM1 calcium homeostasis modulator 1
CCL2 chemokine (C-C motif) ligand 2
CCND1 cyclin D1
CCR2 chemokine (C-C motif) receptor 2
CD44 CD44 molecule (Indian blood group)
CD46 CD46 molecule, complement regulatory protein
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CETP cholesteryl ester transfer protein, plasma
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHIT1 chitinase 1 (chitotriosidase)
CLDN16 claudin 16
COL9A2 collagen, type IX, alpha 2
COMT catechol-O-methyltransferase
CPT1A carnitine palmitoyltransferase 1A (liver)
CRHBP corticotropin releasing hormone binding protein
CRP C-reactive protein, pentraxin-related
CX3CR1 chemokine (C-X3-C motif) receptor 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DFNB59 deafness, autosomal recessive 59
DGKE diacylglycerol kinase, epsilon 64kDa
DIO3 deiodinase, iodothyronine, type III
DRD4 dopamine receptor D4
EDN1 endothelin 1
EGFR epidermal growth factor receptor
ESR1 estrogen receptor 1
F12 coagulation factor XII (Hageman factor)
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAT4 FAT atypical cadherin 4
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FCN3 ficolin (collagen/fibrinogen domain containing) 3
FECH ferrochelatase
FGG fibrinogen gamma chain
FKBP10 FK506 binding protein 10, 65 kDa
FKRP fukutin related protein
FTO fat mass and obesity associated
G6PC glucose-6-phosphatase, catalytic subunit
GAA glucosidase, alpha; acid
GHR growth hormone receptor
GJB2 gap junction protein, beta 2, 26kDa
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GRIK3 glutamate receptor, ionotropic, kainate 3
GRN granulin
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HAMP hepcidin antimicrobial peptide
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HDC histidine decarboxylase
HEXA hexosaminidase A (alpha polypeptide)
HFE hemochromatosis
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
HLA-E major histocompatibility complex, class I, E
HP haptoglobin
HPSE2 heparanase 2 (inactive)
HRH2 histamine receptor H2
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ICAM1 intercellular adhesion molecule 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGFBP3 insulin-like growth factor binding protein 3
IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker)
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL12B interleukin 12B
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL4R interleukin 4 receptor
IL7R interleukin 7 receptor
INS insulin
IRS2 insulin receptor substrate 2
ISCU iron-sulfur cluster assembly enzyme
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAK2 Janus kinase 2
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KL klotho
KRT17 keratin 17, type I
KRT74 keratin 74, type II
LAMA3 laminin, alpha 3
LCE3B late cornified envelope 3B
LCE3C late cornified envelope 3C
LEPR leptin receptor
LIPE lipase, hormone-sensitive
LIPH lipase, member H
MBL2 mannose-binding lectin (protein C) 2, soluble
MC3R melanocortin 3 receptor
MECP2 methyl CpG binding protein 2
MED17 mediator complex subunit 17
MEFV Mediterranean fever
MERTK MER proto-oncogene, tyrosine kinase
MICA MHC class I polypeptide-related sequence A
MMP9 matrix metallopeptidase 9
MOSPD3 motile sperm domain containing 3
MSX1 msh homeobox 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MVK mevalonate kinase
MYO1E myosin IE
MYO9B myosin IXB
NBN nibrin
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NF1 neurofibromin 1
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH3 notch 3
NR2E1 nuclear receptor subfamily 2, group E, member 1
NRG1 neuregulin 1
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PER3 period circadian clock 3
PHOX2B paired-like homeobox 2b
PNPLA3 patatin-like phospholipase domain containing 3
PPARG peroxisome proliferator-activated receptor gamma
PRND prion protein 2 (dublet)
PRNP prion protein
RASEF RAS and EF-hand domain containing
RBP4 retinol binding protein 4, plasma
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2B ribonuclease H2, subunit B
ROGDI rogdi homolog (Drosophila)
SAA1 serum amyloid A1
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SELE selectin E
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMN1 survival of motor neuron 1, telomeric
SMOC1 SPARC related modular calcium binding 1
SMOC2 SPARC related modular calcium binding 2
SNX3 sorting nexin 3
SOCS3 suppressor of cytokine signaling 3
SOD2 superoxide dismutase 2, mitochondrial
STAT5B signal transducer and activator of transcription 5B
SYNE4 spectrin repeat containing, nuclear envelope family member 4
TACR3 tachykinin receptor 3
TBX15 T-box 15
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCN2 transcobalamin II
TECTA tectorin alpha
TF transferrin
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TH tyrosine hydroxylase
THBS2 thrombospondin 2
THBS4 thrombospondin 4
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TP53 tumor protein p53
TPO thyroid peroxidase
TPRN taperin
TTR transthyretin
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VWF von Willebrand factor
WFS1 Wolfram syndrome 1 (wolframin)
WNT10B wingless-type MMTV integration site family, member 10B
ZNF202 zinc finger protein 202