Download Online-Only Appendix File 1

Online-Only Appendix File 1
The rationale of the ENDEAVOUR approach and the underlying principle for choosing different sets of ‘training genes’ for further
gene prioritization.
For gene prioritization, the ENDEAVOUR ranks the candidates genes starting from the more similar one to the less similar (or even
dissimilar) one. The similarity measure is, in turn, calculated by integrating the information obtained from diverse data sources as follows:
functional annotation (Gene Ontology), microarray co-expression (Atlas gene expression), protein-protein interactions and protein domains
(InterPro), EST expression (EST data from Ensembl), pathway membership from KEGG (Kyoto Encyclopedia of Genes and Genomes),
sequence similarity (BLAST), transcription factor binding sites, cis-regulatory modules, and literature (abstracts in EntrezGene).
Thus, the ‘training genes’ were automatically downloaded from the software from a list for the following key words: obesity, hypertension,
type 2 diabetes and dyslipidemias. The training set was created by choosing 70 genes involved with either metabolic pathways related with
metabolic syndrome or with data about genes that are known to be connected with type 2 diabetes or the associated biological process (See
the list that is shown below under the sub-title: “The set of training genes automatically downloaded from the ENDEAVOUR software from a
list for obesity, hypertension, T2D and dislipidemias”).
The order statistics has the advantage of avoiding penalizing genes that are absent from a given data source. The rationale of including
metabolic syndrome related phenotypes is supported by the recognition of the metabolic syndrome as a risk factor for type 2 diabetes and
cardiovascular disease. In addition, several studies have indicated the emerging cardiovascular risk factors associated with the metabolic
syndrome in individuals before the onset of diabetes. Nevertheless, the higher weight in the training set was given to type 2 diabetes related
genes, as there was more than the double of genes chosen for Type 2 diabetes than for the other metabolic syndrome-related phenotypes (See
the order of above-described genes according to the metabolic syndrome phenotype).
Because the choice of the training set may potentially bias our results towards specific pathways, we performed an additional analysis by the
inclusion of a second set of training genes selected only for type 2 diabetes and downloaded from the new version of the ENDEAVOUR
software 1 (an update of the tool that was published during the review process of this manuscript). The complete list of the training genes only
for type 2 diabetes is shown under the subtitle: “The set of training genes automatically downloaded from the updated version of the
ENDEAVOUR software from a list for Type 2 diabetes”. Finally, we tested the performance of the novel version of the ENDEAVOUR tool
by adding to the type 2 diabetes training gene list the new genes revealed by the 3 major type 2 diabetes GWAs (DGI, FUSION and WTCCC)
2-4
: CDKAL1, SLC3OA8, HHEX-IDE, TCF2, WFS1, IGF2BP2, FT0, CDKN2A-2B and TCF7L2 (the complete list is available on subtitle:
“List of the new genes revealed by the type 2 diabetes GWAS added to the training set of type 2 diabetes genes”).
The set of training genes automatically downloaded from the ENDEAVOUR software from a list for obesity, hypertension, T2D and
dyslipidemias
Gene (HGNC
symbol)
Gene name
MC3R
Melanocortin receptor 3 (MC3-R).
UCP2
Mitochondrial uncoupling protein 2 (UCP 2) (UCPH).
SLC6A14
Sodium- and-chloride-dependent neutral and basic amino acid transporter B(0+) (Amino acid transporter ATB0+) (Solute carrier family 6 member 14).
SIM1
Single-minded homolog 1.
LEPROT|LEPR Leptin receptor gene-related protein (OB-R gene-related protein) (OB- RGRP) (Leptin receptor overlapping transcript protein).
LEP
Leptin precursor (Obesity factor) (Obese protein).
PPARGC1B
PGC-1-related estrogen receptor alpha coactivator
NR0B2
Nuclear receptor 0B2 (Orphan nuclear receptor SHP) (Small heterodimer partner).
Corticotropin-lipotropin precursor (Pro-opiomelanocortin) (POMC) [Contains NPP; Melanotropin gamma (Gamma-MSH); Potential peptide;
Corticotropin
(Adrenocorticotropic hormone) (ACTH); Melanotropin alpha (Alpha-MSH); Corticotropin-like intermediary peptide
POMC
MC4R
NTRK2
Melanocortin receptor 4 (MC4-R).
BDNF/NT-3 growth factors receptor precursor (EC 2.7.10.1) (Neurotrophic tyrosine kinase receptor type 2) (TrkB tyrosine kinase) (GP145-TrkB) (TrkB).
AGRP
Agouti-related protein precursor.
GNB3
Guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3 (Transducing beta chain 3).
NOS2A
Nitric oxide synthase, inducible (EC 1.14.13.39) (NOS type II) (Inducible NO synthase) (Inducible NOS) (iNOS) (Hepatocyte NOS) (HEP- NOS).
ADD1
adducin 1 (alpha) isoform b
Cytochrome P450 11B2, mitochondrial precursor (EC 1.14.15.4) (EC 1.14.15.5) (CYPXIB2) (P-450Aldo) (Aldosterone synthase) (ALDOS)
(Aldosterone-synthesizing enzyme) (Steroid 18-hydroxylase) (P-450C18).
CYP11B2
CYP3A5
HSD11B2
Cytochrome P450 3A5 (EC 1.14.14.1) (CYPIIIA5) (P450-PCN3) (HLp2).
Corticosteroid 11-beta-dehydrogenase isozyme 2 (EC 1.1.1.-) (11-DH2) (11-beta-hydroxysteroid dehydrogenase type 2) (11-beta-HSD2)
(NAD- dependent 11-beta-hydroxysteroid dehydrogenase).
NPR3
Atrial natriuretic peptide clearance receptor precursor (ANP-C) (ANPRC) (NPR-C) (Atrial natriuretic peptide C-type receptor).
PTGIS
Prostacyclin synthase (EC 5.3.99.4) (Prostaglandin I2 synthase).
KCNMB1
Calcium-activated potassium channel beta subunit 1 (Calcium-activated potassium channel, subfamily M, beta subunit 1) (Maxi K channel beta subunit
1)
(BK channel beta subunit 1) (Slo-beta 1) (K(VCA)beta 1) (Charybdotoxin receptor beta subunit 1) (BKbeta1)
NR3C2
Mineralocorticoid receptor (MR).
NOS3
Nitric-oxide synthase, endothelial (EC 1.14.13.39) (EC-NOS) (NOS type III) (NOSIII) (Endothelial NOS) (eNOS) (Constitutive NOS) (cNOS).
PNMT
PTF1A
Phenylethanolamine N-methyltransferase (EC 2.1.1.28) (PNMTase) (Noradrenaline N-methyltransferase).
Bone morphogenetic protein receptor type-2 precursor (EC 2.7.11.30) (Bone morphogenetic protein receptor type II) (BMP type II receptor) (BMPRII).
ATP-sensitive inward rectifier potassium channel 11 (Potassium channel, inwardly rectifying subfamily J member 11) (Inward rectifier K(+) channel
Kir6.2) (IKATP).
Pancreas transcription factor 1 subunit alpha (Pancreas-specific transcription factor 1a) (bHLH transcription factor p48)
(p48 DNA- binding subunit of transcription factor PTF1) (PTF1-p48).
GCK
Glucokinase (EC 2.7.1.2) (Hexokinase-4) (Hexokinase type IV) (HK IV) (HK4) (Hexokinase-D).]
IL2RA
Interleukin-2 receptor alpha chain precursor (IL-2 receptor alpha subunit) (IL-2-RA) (IL2-RA) (p55) (TAC antigen) (CD25 antigen).
AVP
Vasopressin-neurophysin 2-copeptin precursor (AVP-NPII) [Contains Arg-vasopressin; Neurophysin 2 (Neurophysin-II); Copeptin].
SLC2A4
Solute carrier family 2, facilitated glucose transporter member 4 (Glucose transporter type 4, insulin-responsive).
AKT2
RAC-beta serine/threonine-protein kinase (EC 2.7.11.1) (RAC-PK-beta) (Protein kinase Akt-2) (Protein kinase B, beta) (PKB beta).
SUMO4
Small ubiquitin-related modifier 4 precursor (SUMO-4) (Small ubiquitin-like protein 4).
NEUROD1
Neurogenic differentiation factor 1 (NeuroD1) (NeuroD).
AVPR2
Vasopressin V2 receptor (Renal-type arginine vasopressin receptor) (Antidiuretic hormone receptor) (AVPR V2).
GYS1
TCF2
Glycogen [starch] synthase, muscle (EC 2.4.1.11).
Hepatocyte nuclear factor 1-beta (HNF-1beta) (HNF-1B) (Variant hepatic nuclear factor 1) (VHNF1) (Homeoprotein LFB3) (Transcription factor 2)
(TCF-2).
TCF1
Hepatocyte nuclear factor 1-alpha (HNF-1A) (Liver-specific transcription factor LF-B1) (LFB1) (Transcription factor 1) (TCF-1).
GLIS3
AQP2
Zinc finger protein GLIS3 (GLI-similar 3) (Zinc finger protein 515).]
Aquaporin-2 (AQP-2) (Aquaporin-CD) (AQP-CD) (Water channel protein for renal collecting duct) (ADH water channel)
(Collecting duct water channel protein) (WCH-CD).
CAPN10
Calpain-10 (EC 3.4.22.-) (Calcium-activated neutral proteinase 10) (CANP 10).
SPINK1
Pancreatic secretory trypsin inhibitor precursor (Tumor-associated trypsin inhibitor) (TATI) (Serine protease inhibitor Kazal-type 1).
CTLA4
Cytotoxic T-lymphocyte protein 4 precursor (Cytotoxic T-lymphocyte- associated antigen 4) (CTLA-4) (CD152 antigen).
BMPR2
KCNJ11
ENPP1
Ectonucleotide pyrophosphatase/phosphodiesterase 1 (E-NPP 1) (Phosphodiesterase I/nucleotide pyrophosphatase 1)
(Plasma-cell membrane glycoprotein PC-1) [Includes: Alkaline phosphodiesterase I (EC 3.1.4.1); Nucleotide pyrophosphatase (EC 3.6.1.9) (NPPase)
TCF7L2
Transcription factor 7-like 2 (HMG box transcription factor 4) (T- cell-specific transcription factor 4) (TCF-4) (hTCF-4).
TCF4
Transcription factor 4 (Immunoglobulin transcription factor 2) (ITF-2) (SL3-3 enhancer factor 2) (SEF-2).
INS
PTPN22
Insulin precursor [Contains: Insulin B chain; Insulin A chain].
Tyrosine-protein phosphatase non-receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP) (Lymphoid phosphatase)
(LyP).
FOXC2
Forkhead box protein C2 (Forkhead-related protein FKHL14) (Mesenchyme fork head protein 1) (MFH-1 protein) (Transcription factor FKH-14).
MBL2
Mannose-binding protein C precursor (MBP-C) (MBP1) (Mannan-binding protein) (Mannose-binding lectin).
PLAGL1
IPF1
Zinc finger protein PLAGL1 (Pleiomorphic adenoma-like protein 1).
Bile-salt-activated lipase precursor (EC 3.1.1.3) (EC 3.1.1.13) (BAL) (Bile-salt-stimulated lipase) (BSSL) (Carboxyl ester lipase) (Sterol esterase)
Cholesterol esterase) (Pancreatic lysophospholipase).
Interferon-induced helicase C domain-containing protein 1 (EC 3.6.1.-) (Interferon-induced with helicase C domain protein 1) (Helicase with 2 CARD
domains) (Helicard) (Melanoma differentiation-associated protein 5) (MDA-5) (RNA helicase-DEAD box protein 1 [
Insulin promoter factor 1 (IPF-1) (Pancreas/duodenum homeobox 1) (PDX- 1) (Islet/duodenum homeobox-1) (IDX-1) (Somatostatin-transactivating
factor 1)
(STF-1) (Insulin upstream factor 1) (IUF-1) (Glucose- sensitive factor) (GSF). [Source:Uniprot/SWISSPROT;Acc:P52945]
FOXP3
Forkhead box protein P3 (Scurfin).
INSR
Insulin receptor precursor (EC 2.7.10.1) (IR) (CD220 antigen) [Contains: Insulin receptor alpha subunit; Insulin receptor beta subunit].
IRS2
Insulin receptor substrate 2 (IRS-2).
UCP3
RETN
Mitochondrial uncoupling protein 3 (UCP 3).
Resistin precursor (Cysteine-rich secreted protein FIZZ3) (Adipose tissue-specific secretory factor) (ADSF)
(C/EBP-epsilon-regulated myeloid-specific secreted cysteine-rich protein) (Cysteine-rich secreted protein A12-alpha-like 2).
PPARG
Peroxisome proliferator-activated receptor gamma (PPAR-gamma).
APOA1
Apolipoprotein A-I precursor (Apo-AI) (ApoA-I) [Contains: Apolipoprotein A-I(1-242)].
RP1
Oxygen-regulated protein 1 (Retinitis pigmentosa RP1 protein) (Retinitis pigmentosa 1 protein).
EPHX2
PCSK9
Epoxide hydrolase 2 (EC 3.3.2.3) (Soluble epoxide hydrolase) (SEH) (Epoxide hydratase) (Cytosolic epoxide hydrolase) (CEH).
Proprotein convertase subtilisin/kexin type 9 precursor (EC 3.4.21.-) (Proprotein convertase PC9) (Subtilisin/kexin-like protease PC9)
(Neural apoptosis-regulated convertase 1) (NARC-1).
APOA2
Apolipoprotein A-II precursor (Apo-AII) (ApoA-II) [Contains: Apolipoprotein A-II(1-76)].
CEL
IFIH1
Inter-alpha-trypsin inhibitor heavy chain H4 precursor (ITI heavy chain H4) (Inter-alpha-inhibitor heavy chain 4)
TMEM110|ITIH4 (Inter-alpha-trypsin inhibitor family heavy chain-related protein) (IHRP) (Plasma kallikrein sensitive glycoprotein 120) (PK-120) (GP120)
APOB
ABCA1
Apolipoprotein B-100 precursor (Apo B-100) [Contains Apolipoprotein B-48 (Apo B-48)].
ATP-binding cassette sub-family A member 1 (ATP-binding cassette transporter 1) (ATP-binding cassette 1) (ABC-1) (Cholesterol efflux regulatory
protein).
LDLR
Low-density lipoprotein receptor precursor (LDL receptor).
FH
Fumarate hydratase, mitochondrial precursor (EC 4.2.1.2) (Fumarase). [
See the order of above-described genes according to the metabolic syndrome phenotype
Obesity
MC3R
UCP2
SLC6A14
SIM1
LEPR
LEP
PPARGC1B
NR0B2
POMC
MC4R
NTRK2
AGRP
Hypertension
GNB3
NOS2A
ADD1
CYP11B2
CYP3A5
HSD11B2
NPR3
PTGIS
KCNMB1
NR3C2
NOS3
PNMT
BMPR2
KCNJ11
PTF1A
GCK
IL2RA
AVP
Type 2 Diabetes
SLC2A4
AKT2
SUMO4
NEUROD1
AVPR2
GYS1
TCF2
TCF1
GLIS3
AQP2
CAPN10
SPINK1
CTLA4
ENPP1
TCF7L2
TCF4
INS
PTPN22
FOXC2
MBL2
PLAGL1
CEL
Dyslipidemia
APOA1
RP1
EPHX2
PCSK9
APOA2
TIH4
APOB
ABCA1
LDLR
FH
IFIH1
IPF1
FOXP3
INSR
IRS2
UCP3
RETN
PPARG
The set of training genes automatically downloaded from the updated version of the ENDEAVOUR software from a list for Type 2
diabetes.
CAPN10
ITPR3
NEUROD1
GPD2
CEL
HNF4A
ENPP1
TCF1
PTPN22
IFIH1
Calpain-10 (EC 3.4.22.-) (Calcium-activated neutral proteinase 10) (CANP 10). [Source:Uniprot/SWISSPROT;Acc:Q9HC96]
Inositol 1,4,5-trisphosphate receptor type 3 (Type 3 inositol 1,4,5- trisphosphate receptor) (Type 3 InsP3 receptor) (IP3 receptor
isoform 3) (InsP3R3). [Source:Uniprot/SWISSPROT;Acc:Q14573]
Neurogenic differentiation factor 1 (NeuroD1) (NeuroD). [Source:Uniprot/SWISSPROT;Acc:Q13562]
Glycerol-3-phosphate dehydrogenase, mitochondrial precursor (EC 1.1.99.5) (GPD-M) (GPDH-M) (mtGPD).
[Source:Uniprot/SWISSPROT;Acc:P43304]
Bile salt-activated lipase precursor (EC 3.1.1.3) (EC 3.1.1.13) (BAL) (Bile salt-stimulated lipase) (BSSL) (Carboxyl ester lipase)
(Sterol esterase) (Cholesterol esterase) (Pancreatic lysophospholipase). [Source:Uniprot/SWISSPROT;Acc:P19835]
Hepatocyte nuclear factor 4-alpha (HNF-4-alpha) (Transcription factor HNF-4) (Transcription factor 14).
[Source:Uniprot/SWISSPROT;Acc:P41235]
Ectonucleotide pyrophosphatase/phosphodiesterase 1 (E-NPP 1) (Phosphodiesterase I/nucleotide pyrophosphatase 1) (Plasmacell membrane glycoprotein PC-1) [Includes: Alkaline phosphodiesterase I (EC 3.1.4.1); Nucleotide pyrophosphatase (EC
3.6.1.9) (NPPase) [Source:Uniprot/SWISSPROT;Acc:P22413]
Hepatocyte nuclear factor 1-alpha (HNF-1A) (Liver-specific transcription factor LF-B1) (LFB1) (Transcription factor 1) (TCF1). [Source:Uniprot/SWISSPROT;Acc:P20823]
Tyrosine-protein phosphatase non-receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP)
(Lymphoid phosphatase) (LyP). [Source:Uniprot/SWISSPROT;Acc:Q9Y2R2]
Interferon-induced helicase C domain-containing protein 1 (EC 3.6.1.-) (Interferon-induced with helicase C domain protein 1)
(Helicase with 2 CARD domains) (Helicard) (Melanoma differentiation-associated protein 5) (MDA-5) (RNA helicase-DEAD
box protein 1 [Source:Uniprot/SWISSPROT;Acc:Q9BYX4]
IL2RA
KLF11
TCF7L2
MAPK8IP1
OAS1
SLC2A2
AKT2
MBL2
ABCC8
UCP3
PLAGL1
GYS1
RETN
FOXP3
SUMO4
AQP2
PPARG
AVP
SLC2A4
FOXC2
Interleukin-2 receptor alpha chain precursor (IL-2 receptor alpha subunit) (IL-2-RA) (IL2-RA) (p55) (TAC antigen) (CD25
antigen). [Source:Uniprot/SWISSPROT;Acc:P01589]
Krueppel-like factor 11 (Transforming growth factor-beta-inducible early growth response protein 2) (TGFB-inducible early
growth response protein 2) (TIEG-2). [Source:Uniprot/SWISSPROT;Acc:O14901]
Transcription factor 7-like 2 (HMG box transcription factor 4) (T- cell-specific transcription factor 4) (TCF-4) (hTCF-4).
[Source:Uniprot/SWISSPROT;Acc:Q9NQB0]
C-jun-amino-terminal kinase-interacting protein 1 (JNK-interacting protein 1) (JIP-1) (JNK MAP kinase scaffold protein 1)
(Islet-brain 1) (IB-1) (Mitogen-activated protein kinase 8-interacting protein 1). [Source:Uniprot/SWISSPROT;Acc:Q9UQF2]
2',5'-oligoadenylate synthetase 1 isoform 3 [Source:RefSeq_peptide;Acc:NP_001027581]
Solute carrier family 2, facilitated glucose transporter member 2 (Glucose transporter type 2, liver).
[Source:Uniprot/SWISSPROT;Acc:P11168]
RAC-beta serine/threonine-protein kinase (EC 2.7.11.1) (RAC-PK-beta) (Protein kinase Akt-2) (Protein kinase B, beta) (PKB
beta). [Source:Uniprot/SWISSPROT;Acc:P31751]
Mannose-binding protein C precursor (MBP-C) (MBP1) (Mannan-binding protein) (Mannose-binding lectin).
[Source:Uniprot/SWISSPROT;Acc:P11226]
ATP-binding cassette transporter sub-family C member 8 (Sulfonylurea receptor 1). [Source:Uniprot/SWISSPROT;Acc:Q09428]
Mitochondrial uncoupling protein 3 (UCP 3). [Source:Uniprot/SWISSPROT;Acc:P55916]
Zinc finger protein PLAGL1 (Pleiomorphic adenoma-like protein 1). [Source:Uniprot/SWISSPROT;Acc:Q9UM63]
Glycogen [starch] synthase, muscle (EC 2.4.1.11). [Source:Uniprot/SWISSPROT;Acc:P13807]
Resistin precursor (Cysteine-rich secreted protein FIZZ3) (Adipose tissue-specific secretory factor) (ADSF) (C/EBP-epsilonregulated myeloid-specific secreted cysteine-rich protein) (Cysteine-rich secreted protein A12-alpha-like 2).
[Source:Uniprot/SWISSPROT;Acc:Q9HD89]
Forkhead box protein P3 (Scurfin). [Source:Uniprot/SWISSPROT;Acc:Q9BZS1]
Small ubiquitin-related modifier 4 precursor (SUMO-4) (Small ubiquitin-like protein 4).
[Source:Uniprot/SWISSPROT;Acc:Q6EEV6]
Aquaporin-2 (AQP-2) (Aquaporin-CD) (AQP-CD) (Water channel protein for renal collecting duct) (ADH water channel)
(Collecting duct water channel protein) (WCH-CD). [Source:Uniprot/SWISSPROT;Acc:P41181]
Peroxisome proliferator-activated receptor gamma (PPAR-gamma). [Source:Uniprot/SWISSPROT;Acc:P37231]
Vasopressin-neurophysin 2-copeptin precursor (AVP-NPII) [Contains: Arg-vasopressin; Neurophysin 2 (Neurophysin-II);
Copeptin]. [Source:Uniprot/SWISSPROT;Acc:P01185]
Solute carrier family 2, facilitated glucose transporter member 4 (Glucose transporter type 4, insulin-responsive).
[Source:Uniprot/SWISSPROT;Acc:P14672]
Forkhead box protein C2 (Forkhead-related protein FKHL14) (Mesenchyme fork head protein 1) (MFH-1 protein) (Transcription
factor FKH-14). [Source:Uniprot/SWISSPROT;Acc:Q99958]
IRS1
GCK
INS
GLIS3
INSR
CTLA4
AVPR2
KCNJ11
SPINK1
PTF1A
Insulin receptor substrate 1 (IRS-1). [Source:Uniprot/SWISSPROT;Acc:P35568]
Glucokinase (EC 2.7.1.2) (Hexokinase-4) (Hexokinase type IV) (HK IV) (HK4) (Hexokinase-D).
[Source:Uniprot/SWISSPROT;Acc:P35557]
Insulin precursor [Contains: Insulin B chain; Insulin A chain]. [Source:Uniprot/SWISSPROT;Acc:P01308]
Zinc finger protein GLIS3 (GLI-similar 3) (Zinc finger protein 515). [Source:Uniprot/SWISSPROT;Acc:Q8NEA6]
Insulin receptor precursor (EC 2.7.10.1) (IR) (CD220 antigen) [Contains: Insulin receptor subunit alpha; Insulin receptor subunit
beta]. [Source:Uniprot/SWISSPROT;Acc:P06213]
Cytotoxic T-lymphocyte protein 4 precursor (Cytotoxic T-lymphocyte- associated antigen 4) (CTLA-4) (CD152 antigen).
[Source:Uniprot/SWISSPROT;Acc:P16410]
Vasopressin V2 receptor (Renal-type arginine vasopressin receptor) (Antidiuretic hormone receptor) (AVPR V2).
[Source:Uniprot/SWISSPROT;Acc:P30518]
ATP-sensitive inward rectifier potassium channel 11 (Potassium channel, inwardly rectifying subfamily J member 11) (Inward
rectifier K(+) channel Kir6.2) (IKATP). [Source:Uniprot/SWISSPROT;Acc:Q14654]
Pancreatic secretory trypsin inhibitor precursor (Tumor-associated trypsin inhibitor) (TATI) (Serine protease inhibitor Kazal-type
1). [Source:Uniprot/SWISSPROT;Acc:P00995]
Pancreas transcription factor 1 subunit alpha (Pancreas-specific transcription factor 1a) (bHLH transcription factor p48) (p48
DNA- binding subunit of transcription factor PTF1) (PTF1-p48). [Source:Uniprot/SWISSPROT;Acc:Q7RTS3]
List of the new genes revealed by the type 2 diabetes GWAS added to the training set of type 2 diabetes genes.
CDKAL1
SLC30A8
HHEX
TCF2
WFS1
IGF2BP2
CDK5 regulatory subunit associated protein 1-like 1 [Source:RefSeq_peptide;Acc:NP_060244]
solute carrier family 30 member 8 [Source:RefSeq_peptide;Acc:NP_776250]
Homeobox protein PRH (Hematopoietically expressed homeobox) (Homeobox protein HEX).
[Source:Uniprot/SWISSPROT;Acc:Q03014]
Hepatocyte nuclear factor 1-beta (HNF-1beta) (HNF-1B) (Variant hepatic nuclear factor 1) (VHNF1) (Homeoprotein LFB3)
(Transcription factor 2) (TCF-2). [Source:Uniprot/SWISSPROT;Acc:P35680]
Wolframin. [Source:Uniprot/SWISSPROT;Acc:O76024]
fto [Source:RefSeq_peptide;Acc:NP_001073901]
Insulin-like growth factor 2 mRNA-binding protein 2 (IGF-II mRNA- binding protein 2) (IMP-2) (Hepatocellular carcinoma
autoantigen p62). [Source:Uniprot/SWISSPROT;Acc:Q9Y6M1]
CDKN2A
Cyclin-dependent kinase inhibitor 2A, isoform 4 (p14ARF) (p19ARF). [Source:Uniprot/SWISSPROT;Acc:Q8N726]
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Tranchevent LC, Barriot R, Yu S et al. ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids
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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-678.
3
Saxena R, Voight BF, Lyssenko V et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Science 2007;316:1331-1336.
4
Zeggini E, Weedon MN, Lindgren CM et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2
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