diagnosed Gene Set

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

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD5 abhydrolase domain containing 5
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACE angiotensin I converting enzyme
ACVR1 activin A receptor, type I
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
AGXT alanine-glyoxylate aminotransferase
AHSG alpha-2-HS-glycoprotein
AICDA activation-induced cytidine deaminase
AIP aryl hydrocarbon receptor interacting protein
AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase)
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALK anaplastic lymphoma receptor tyrosine kinase
ALPI alkaline phosphatase, intestinal
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
AMH anti-Mullerian hormone
AMPD1 adenosine monophosphate deaminase 1
APC adenomatous polyposis coli
APLN apelin
APOA1 apolipoprotein A-I
APOA4 apolipoprotein A-IV
APOC3 apolipoprotein C-III
APOE apolipoprotein E
AQP4 aquaporin 4
AR androgen receptor
ARRB1 arrestin, beta 1
ASPA aspartoacylase
ATN1 atrophin 1
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
AVPR2 arginine vasopressin receptor 2
BCHE butyrylcholinesterase
BCL2L13 BCL2-like 13 (apoptosis facilitator)
BCL6 B-cell CLL/lymphoma 6
BCR breakpoint cluster region
BEST1 bestrophin 1
BIRC5 baculoviral IAP repeat containing 5
BIRC7 baculoviral IAP repeat containing 7
BMI1 BMI1 proto-oncogene, polycomb ring finger
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
C9ORF72 chromosome 9 open reading frame 72
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CALCA calcitonin-related polypeptide alpha
CASP8AP2 caspase 8 associated protein 2
CAV3 caveolin 3
CBFB core-binding factor, beta subunit
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD274 CD274 molecule
CD34 CD34 molecule
CD38 CD38 molecule
CD40LG CD40 ligand
CDKL5 cyclin-dependent kinase-like 5
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDX2 caudal type homeobox 2
CFB complement factor B
CGB chorionic gonadotropin, beta polypeptide
CHD7 chromodomain helicase DNA binding protein 7
CHDS3 Coronary heart disease, susceptibility to, 3
CHEK2 checkpoint kinase 2
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLCN1 chloride channel, voltage-sensitive 1
CLCN3 chloride channel, voltage-sensitive 3
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
CRP C-reactive protein, pentraxin-related
CRTAP cartilage associated protein
CTF1 cardiotrophin 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSA cathepsin A
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR4 chemokine (C-X-C motif) receptor 4
CYLD cylindromatosis (turban tumor syndrome)
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DAPK1 death-associated protein kinase 1
DLC1 DLC1 Rho GTPase activating protein
DMD dystrophin
DSPP dentin sialophosphoprotein
EDN1 endothelin 1
EGFR epidermal growth factor receptor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENG endoglin
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EPAS1 endothelial PAS domain protein 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB2 erb-b2 receptor tyrosine kinase 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ETV6 ets variant 6
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
F13A1 coagulation factor XIII, A1 polypeptide
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
FANCA Fanconi anemia, complementation group A
FBN1 fibrillin 1
FGF21 fibroblast growth factor 21
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLG filaggrin
FLT1 fms-related tyrosine kinase 1
FLT3 fms-related tyrosine kinase 3
FMR1 fragile X mental retardation 1
FNDC5 fibronectin type III domain containing 5
FOXO1 forkhead box O1
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E
FST follistatin
FTO fat mass and obesity associated
FUS FUS RNA binding protein
FZD4 frizzled class receptor 4
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALT galactose-1-phosphate uridylyltransferase
GBA glucosidase, beta, acid
GCK glucokinase (hexokinase 4)
GCLC glutamate-cysteine ligase, catalytic subunit
GDF15 growth differentiation factor 15
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GHR growth hormone receptor
GHRL ghrelin/obestatin prepropeptide
GHSR growth hormone secretagogue receptor
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLUL glutamate-ammonia ligase
GNAS GNAS complex locus
GOLM1 golgi membrane protein 1
GPC3 glypican 3
GRN granulin
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HAVCR2 hepatitis A virus cellular receptor 2
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HEXA hexosaminidase A (alpha polypeptide)
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HFE hemochromatosis
HIC1 hypermethylated in cancer 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HK1 hexokinase 1
HK2 hexokinase 2
HK3 hexokinase 3 (white cell)
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
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
HMGB1 high mobility group box 1
HMGB2 high mobility group box 2
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
HPSE heparanase
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HTRA2 HtrA serine peptidase 2
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDUA iduronidase, alpha-L-
IFNG interferon, gamma
IL10 interleukin 10
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21R interleukin 21 receptor
IL2RG interleukin 2 receptor, gamma
IL4 interleukin 4
IL6 interleukin 6
INS insulin
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITLN1 intelectin 1 (galactofuranose binding)
JAK1 Janus kinase 1
JAK2 Janus kinase 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
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDR kinase insert domain receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLK6 kallikrein-related peptidase 6
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT12 keratin 12, type I
KRT14 keratin 14, type I
KRT5 keratin 5, type II
KRT9 keratin 9, type I
LAMB2 laminin, beta 2 (laminin S)
LATS2 large tumor suppressor kinase 2
LDLR low density lipoprotein receptor
LEP leptin
LEPQTL1 Leptin, serum levels of
LINC01587 long intergenic non-protein coding RNA 1587
LMNA lamin A/C
MAGEA3 melanoma antigen family A3
MAPT microtubule-associated protein tau
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MGAM maltase-glucoamylase
MGMT O-6-methylguanine-DNA methyltransferase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR132 microRNA 132
MIR192 microRNA 192
MIR194-1 microRNA 194-1
MIR21 microRNA 21
MIR215 microRNA 215
MIR96 microRNA 96
MKI67 marker of proliferation Ki-67
MLH1 mutL homolog 1
MLKL mixed lineage kinase domain-like
MMP9 matrix metallopeptidase 9
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MST1 macrophage stimulating 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUC1 mucin 1, cell surface associated
MYBPC3 myosin binding protein C, cardiac
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYD88 myeloid differentiation primary response 88
MYH11 myosin, heavy chain 11, smooth muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYO6 myosin VI
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NDP Norrie disease (pseudoglioma)
NEFH neurofilament, heavy polypeptide
NEU1 sialidase 1 (lysosomal sialidase)
NEUROG1 neurogenin 1
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NTN1 netrin 1
NUCB2 nucleobindin 2
NYX nyctalopin
OAT ornithine aminotransferase
OCRL oculocerebrorenal syndrome of Lowe
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OTOF otoferlin
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
P3H1 prolyl 3-hydroxylase 1
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX3 paired box 3
PCA3 prostate cancer associated 3 (non-protein coding)
PCDH19 protocadherin 19
PEX7 peroxisomal biogenesis factor 7
PHOX2B paired-like homeobox 2b
PIGF phosphatidylinositol glycan anchor biosynthesis, class F
PKLR pyruvate kinase, liver and RBC
PLAU plasminogen activator, urokinase
PLP1 proteolipid protein 1
PML promyelocytic leukemia
POU2F1 POU class 2 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PRAME preferentially expressed antigen in melanoma
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PRRT2 proline-rich transmembrane protein 2
PSEN1 presenilin 1
PTCH1 patched 1
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRJ protein tyrosine phosphatase, receptor type, J
PTPRN protein tyrosine phosphatase, receptor type, N
RALA v-ral simian leukemia viral oncogene homolog A (ras related)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBP4 retinol binding protein 4, plasma
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RTN4R reticulon 4 receptor
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SELE selectin E
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETX senataxin
SFRP2 secreted frizzled-related protein 2
SIX1 SIX homeobox 1
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6
SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SMAD4 SMAD family member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD1 superoxide dismutase 1, soluble
SPAST spastin
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SSTR1 somatostatin receptor 1
SSTR5 somatostatin receptor 5
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK32B serine/threonine kinase 32B
STX2 syntaxin 2
SUFU suppressor of fused homolog (Drosophila)
SUMO4 small ubiquitin-like modifier 4
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TF transferrin
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFF3 trefoil factor 3 (intestinal)
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK1 thymidine kinase 1, soluble
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TOP2A topoisomerase (DNA) II alpha 170kDa
TOR1A torsin family 1, member A (torsin A)
TOX3 TOX high mobility group box family member 3
TP53 tumor protein p53
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPMT thiopurine S-methyltransferase
TPO thyroid peroxidase
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TSHR thyroid stimulating hormone receptor
TSLP thymic stromal lymphopoietin
TTN titin
TTR transthyretin
TUBA1A tubulin, alpha 1a
TYR tyrosinase
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UPK1B uroplakin 1B
USB1 U6 snRNA biogenesis 1
VCAM1 vascular cell adhesion molecule 1
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VNN1 vanin 1
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WFDC2 WAP four-disulfide core domain 2
WT1 Wilms tumor 1
XCE X chromosome controlling element