HuGE Navigator|Phenopedia|PHGKB

Phenopedia

Endocrine System Diseases

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Associated Gene	Total Publication	Meta-analysis Publication
BRCA1	471	16
BRCA2	423	17
HLA-DQB1	388	7
TCF7L2	373	47
HLA-DRB1	348	9
BRAF	345	22
PPARG	338	34
INS	280	31
ACE	244	13
CTLA4	236	23
ADIPOQ	223	30
HLA-DQA1	212	6
TNF	198	19
FTO	191	27
MTHFR	187	33
KCNJ11	177	25
KRAS	176	8
CDKAL1	174	25
VDR	173	22
CDKN2A	169	19
SLC30A8	168	18
APOE	162	12
TP53	162	14
RET	159	8
PTPN22	152	12
HHEX	147	16
NOS3	143	17
IL6	141	15
CDKN2B	140	15
IGF2BP2	128	21
KCNQ1	125	22
VEGFA	124	21
IRS1	117	12
HNF1A	114	1
AR	100	7
GCK	98	11
CAPN10	98	13
HNF4A	94	8
GSTM1	94	14
CYP21A2	88	0
GSTT1	87	12
MTNR1B	87	15
IL10	85	11
PON1	81	3
WFS1	81	7
AGT	80	5
PPARGC1A	74	8
ENPP1	73	10
ESR1	71	10
GCKR	70	11
HLA-B	69	4
SERPINE1	68	12
IL1B	67	7
AGTR1	67	4
HLA-A	65	1
TSHR	64	2
NRAS	63	2
GSTP1	63	8
HNF1B	62	3
THADA	61	7
TGFB1	61	8
MC4R	59	5
JAZF1	59	9
PIK3CA	58	5
UCP2	57	4
IDE	57	8
XRCC1	56	11
FSHR	55	6
IGF1	53	3
CYP1A1	52	5
PTEN	51	7
LEPR	50	1
COMT	50	4
IL2RA	50	5
ADRB3	49	4
LPL	49	4
ABCC8	49	5
TSPAN8	47	7
ADAMTS9	47	7
GHR	47	3
FMR1	47	1
CETP	46	1
INSR	45	7
HRAS	45	3
NOTCH2	45	5
TERT	44	7
HFE	44	2
CDC123	43	8
HP	42	2
IL18	42	5
PALB2	42	0
SOD2	42	2
SDHB	42	0
ATM	41	5
LTA	41	0
MEN1	41	0
TLR4	40	3
FOXE1	40	6
CYP17A1	40	3
EGFR	39	3
IL1A	39	4
SDHD	39	0
TCF1	39	1
VHL	38	1
IL1RN	38	2
IL4	38	4
ADRB2	38	1
NR3C1	37	0
CCL2	37	4
RAGE	37	1
ABCB1	37	4
LEP	36	1
CTNNB1	36	2
IRS2	36	3
CYP19A1	35	1
CHEK2	35	3
AKR1B1	35	2
LHCGR	35	4
PPARA	35	3
RETN	35	3
IFIH1	35	3
TPO	34	1
ICAM1	34	4
APOC3	34	1
AGER	34	5
COX8A	34	11
APOA5	34	4
IFNG	33	0
HSD11B1	33	3
FABP2	33	2
LIPC	33	1
MICA	33	1
G6PC2	32	4
SHBG	32	3
HLA-C	32	0
CYP11B2	32	1
ESR2	31	4
HLA-DPB1	31	1
APOB	31	2
OGG1	31	2
MLH1	30	2
PGR	30	7
CASR	30	2
IGF2	30	3
F5	30	1
CRP	30	4
ERCC1	29	4
CYP2C9	29	2
GLIS3	29	7
TG	29	0
CAMK1D	29	4
TRNL1	29	0
NEUROD1	28	3
ADIPOR1	28	2
BDNF	28	3
CYP3A4	28	2
ABO	28	6
IL2	27	1
SUMO4	27	3
CCR5	27	4
CDKN1B	27	1
SLC2A1	27	5
SLC2A2	27	1
SRD5A2	27	2
NFKB1	27	3
XRCC3	26	8
ADRA2A	26	3
EXT2	26	4
ABCA1	26	2
PDX1	26	1
F2	26	1
GNAS	25	0
GNB3	25	1
IGFBP3	25	2
ERCC2	25	2
ERBB3	25	1
CYBA	25	2
CFTR	25	0
PAX8	25	3
SPINK1	25	1
RAD51C	25	3
MSH2	25	1
PPARD	25	3
MMP9	24	4
SDHC	24	0
ADIPOR2	24	2
UCP3	24	2
UCP1	24	2
AKT1	24	1
DIO2	24	1
MSH6	24	1
APOA1	23	2
IL12B	23	3
CAT	23	1
PON2	23	2
BCL11A	23	2
LGR5	23	4
CD40	23	1
AIP	22	0
UGT1A1	22	0
FADS1	22	5
PAX4	22	3
RAD51	22	4
SOD1	22	1
STK11	22	1
CYP3A5	22	1
CYP1B1	22	2
ADCY5	22	5
NAT2	22	0
CYP11A1	21	2
KCNJ5	21	0
SH2B1	21	4
CLEC16A	21	1
MBL2	21	1
MMP3	20	1
SMAD4	20	0
PCSK1	20	0
GHRL	20	2
PTPN1	20	2
PTPN2	20	0
FGFR1	20	2
CYP27B1	20	2
SH2B3	20	0
TMEM18	19	3
NEGR1	19	4
INHA	19	4
HLA-DRB4	19	1
GPX1	19	1
PTGS2	19	3
NF1	19	0
NBN	19	1
SLC22A1	19	0
CCL5	19	1
PNPLA3	19	0
BMP15	19	1
HMGA2	18	5
STAT4	18	2
PROX1	18	3
PRSS1	18	0
SLC26A4	18	0
APC	18	3
IL13	18	2
IGF1R	18	2
ITGB3	18	2
GAD2	18	0
GH1	18	1
GNPDA2	18	3
IL23R	18	3
CYP1A2	18	1
CYP2C19	18	0
CYP2C8	18	2
ERBB2	18	3
AGTR2	18	1
DRD2	18	0
CRY2	17	1
PARP1	17	1
FCRL3	17	1
AIRE	17	1
PTH	17	2
SELE	17	0
RB1	17	1
XRCC2	17	5
CNDP1	17	2
CDH1	16	1
VEGF	16	21
BRIP1	16	1
CCND1	16	2
DENND1A	16	3
PIK3R1	16	3
POMC	16	1
FOXP3	16	1
MMP1	16	2
HIF1A	16	3
HMOX1	16	1
KIR2DL2	16	0
KIR2DL3	16	0
IL6R	16	4
GCG	16	1
MTCH2	16	2
ARAP1	16	2
CYP2R1	15	0
ADRB1	15	1
DGKB	15	3
CDKN1A	15	1
ALDH2	15	2
GC	15	0
GNRHR	15	1
NR5A1	15	0
IL4R	15	0
FAS	15	0
KIR3DL1	15	0
MMP2	15	2
MDM2	15	2
MPO	15	1
PDCD1	15	3
DUOX2	15	0
NPY	15	1
RBP4	15	0
PTPRN	15	0
SREBF1	15	1
KCTD15	15	1
NKX2-1	15	1
FOXL2	14	0
SLC6A4	14	0
ND1	14	0
LMNA	14	2
KIR2DL1	14	0
KIR2DS4	14	0
C2CD4B	14	2
IGFBP1	14	2
GIPR	14	2
FGFR2	14	2
CD226	14	0
EDN1	14	0
ABCG2	14	2
APOL1	14	3
MADD	13	1
CYP11B1	13	0
NQO1	13	0
KLF14	13	2
PROKR2	13	0
AMH	13	2
IL1R1	13	3
KIR2DS5	13	0
KIR3DS1	13	0
KIR2DS1	13	0
KDR	13	1
ITGA2	13	2
HMGCR	13	3
LDLR	13	2
MTR	13	0
PMS2	13	1
TMEM127	13	0
SLC2A4	13	0
BARD1	13	1
RAD51D	13	0
REN	13	0
BACH2	13	2
SELP	13	0
ACE2	12	1
SLC12A3	12	1
SLC22A2	12	0
TNFRSF1B	12	2
TYMS	12	0
POF1B	12	1
PTPRD	12	2
PTCH1	12	0
ACP1	12	0
KITLG	12	0
MIR146A	12	3
NEUROG3	12	0
TNFRSF11B	12	0
PCK1	12	0
ACACB	12	5
KAL1	12	0
INSL3	12	0
GDF9	12	0
GLP1R	12	2
CYP2E1	12	1
CYP24A1	12	0
EPO	12	3
CDK4	12	0
PDE8B	12	0
SEC16B	12	2
CD36	12	0
NOS1AP	11	1
ELMO1	11	1
AKR1C3	11	0
RAD50	11	1
NAMPT	11	0
CDKN2B-AS1	11	2
EPHX1	11	1
CNR1	11	1
GNRH1	11	1
AMHR2	11	2
FSHB	11	3
FGB	11	0
IL12A	11	0
IGFBP2	11	2
IGF2R	11	1
IPF1	11	1
KIT	11	1
APEX1	11	1
INSIG2	11	0
MTRR	11	0
CIITA	11	1
MIF	11	1
TRIB3	11	1
PROP1	11	1
CASP8	11	1
TNFAIP3	11	2
VWF	11	0
SRD5A1	11	2
STAT3	11	1
IL21	11	1
CXCL12	11	1
PROK2	10	0
SOD3	10	0
XPC	10	0
CLPTM1L	10	3
PRL	10	2
KIR2DL5A	10	0
SLC2A9	10	1
PLAU	10	2
UBASH3A	10	1
MAX	10	0
SMAD3	10	2
NPPA	10	0
HSPA1B	10	2
IAPP	10	0
CFH	10	1
KIR2DS3	10	0
FASLG	10	0
FGF2	10	4
COG2	10	3
FAIM2	10	2
SIRT1	10	0
GALT	10	0
ADH1B	10	0
ERCC4	10	1
AKT2	10	2
ETV5	10	1
DBP	10	1
DHCR7	10	0
KIR2DS2	10	0
CDKN2C	10	0
SLCO1B1	10	0
TNFRSF25	10	1
PRC1	10	2
CCND2	10	1
FADS2	10	3
CD28	9	2
TP53INP1	9	1
HMG20A	9	1
CDK6	9	1
CYP2D6	9	0
ERCC5	9	1
EGF	9	3
AHSG	9	0
DMRT1	9	0
DUSP9	9	1
ADD1	9	0
DCD	9	2
PPARGC1B	9	1
IL27	9	1
FYN	9	2
PCSK9	9	4
IL28B	9	0
GLO1	9	0
DICER1	9	0
DDAH2	9	0
IL8	9	3
KISS1	9	0
HLA-DRA	9	0
HLA-DPA1	9	0
HSD17B4	9	0
GRB14	9	1
NOS2	9	1
NOS2A	9	1
ATP1A1	9	0
PDE11A	9	0
LHB	9	0
LRP5	9	0
MSH3	9	1
PPP1R3A	9	1
PPP2R1A	9	0
KISS1R	9	0
VCAM1	9	1
USF1	9	0
TLR2	9	1
TGFBR2	9	2
SULT1A1	9	0
SPP1	9	1
TCF2	9	3
TCF20	9	2
BCL2	9	1
SDHA	9	0
NOD2	8	0
BDKRB2	8	0
RXRA	8	0
BMP7	8	0
SLC11A1	8	1
BMP4	8	1
TGFBR3	8	1
TGFBR1	8	2
CXCR4	8	0
ZBED3	8	1
SLC2A10	8	1
CDC73	8	0
PTGS1	8	2
SLC47A1	8	1
ZFAND6	8	1
POU1F1	8	0
MRE11A	8	1
LPA	8	3
MYH9	8	0
MUTYH	8	0
NPPB	8	0
NRF1	8	0
NTRK1	8	0
CD274	8	0
GSTA1	8	0
HSD3B2	8	0
APOA4	8	1
HMGA1	8	1
FOXA2	8	1
NRG1	8	0
ITGB2	8	1
APOC1	8	2
ALOX12	8	1
LPIN1	8	0
FOXC2	8	0
NLRP1	8	1
ATF6	8	1
FABP4	8	0
FABP1	8	0
F7	8	0
GIP	8	1
NR5A2	8	3
ADH1C	8	0
CSF2	8	1
ADRA2B	8	0
CTGF	8	1
CYP2B6	8	0
DPP4	8	2
UTS2	8	0
KIR3DL3	8	0
NLRP3	8	0
CD14	8	0
H6PD	8	1
NAT1	8	0
HESX1	8	0
IL18RAP	8	0
SOCS1	7	0
CCNE1	7	1
SOCS3	7	1
SCARB1	7	0
LIPG	7	0
CHN2	7	2
FST	7	1
DNMT3A	7	1
CYP21A1P	7	0
C2CD4A	7	1
LYPLAL1	7	1
RXFP2	7	0
ALOX5	7	0
FRMD3	7	2
ANGPTL3	7	3
GHRHR	7	0
F13A1	7	1
FOXO3	7	0
IL3	7	0
INHBB	7	1
IL17A	7	0
ITGA2B	7	0
KIR3DL2	7	0
KIR2DL4	7	0
HK1	7	1
HTR2C	7	0
HSD17B1	7	0
HSPA1A	7	0
HSPA1L	7	0
GSK3B	7	0
ICOS	7	1
GYS1	7	0
NPC1	7	0
NFKBIA	7	1
MYC	7	0
OPRM1	7	0
MLXIPL	7	1
LPP	7	2
LIPE	7	0
MAF	7	1
MIR27A	7	2
MTTP	7	0
ATR	7	1
POR	7	0
POU2F1	7	0
SDHAF2	7	0
BNC2	7	1
VPS13C	7	2
SERPINF1	7	2
PDGFRA	7	0
PSMA6	7	0
PRKAA2	7	0
PRKAR1A	7	0
PLA2G7	7	0
KLF11	7	1
FBN3	7	2
ARID1A	7	0
SF1	7	0
CACNA1D	7	0
UBE2E2	7	1
THRA	7	0
TIMP1	7	1
TF	7	0
TCF7	7	0
TAP2	7	0
SSTR5	7	0
FN3K	7	0
RAD52	7	1
RECQL	6	1
RBBP8	6	0
RXRG	6	0
RREB1	6	4
CFB	6	0
SCD	6	0
TACR3	6	0
TAC3	6	0
TERC	6	0
BMP2	6	0
TFAP2B	6	0
TNFRSF1A	6	0
C4B	6	0
NR1H2	6	0
AXIN2	6	0
CASP9	6	0
ZNRF3	6	0
PTGES2	6	1
COL18A1	6	1
PKN2	6	2
PRKCZ	6	0
PRKACA	6	0
SLC30A10	6	0
RNLS	6	0
ZMIZ1	6	0
BAK1	6	0
IL23A	6	2
PLTP	6	2
RNF43	6	0
WNT4	6	1
POLB	6	0
MMP7	6	2
DUOXA2	6	0
MIR196A2	6	1
LRP2	6	2
PCSK2	6	0
ANGPTL4	6	0
ATP2B3	6	0
NPHS1	6	0
NPY2R	6	0
HGF	6	2
GRB10	6	0
ANK1	6	1
HLA-G	6	1
KIF11	6	1
ITPR3	6	0
IL15	6	1
INHBA	6	2
INPPL1	6	0
IL7R	6	1
LOC348120	6	0
IGFBP5	6	1
FOXO1	6	0
FLT1	6	1
DIANPH	6	2
DDAH1	6	0
FANCA	6	1
FANCC	6	1
FGFR3	6	1
FGFR4	6	1
FGF8	6	1
GLI2	6	0
GP1BA	6	0
GATA3	6	2
CCR2	6	0
SERPINA3	6	0
COL1A1	6	0
CTSH	6	0
DRD3	6	0
CELSR2	6	2
EP300	6	1
IL17F	6	0
TOPBP1	6	0
CDKN2D	6	0
CDH13	6	1
RASGRP1	6	2
CDK2	6	0
NR1H3	6	0
ADA	6	0
BCAR1	6	0
VPS26A	6	1
CD40LG	6	0
CDA	6	0
CD4	6	1
LHX4	6	0
HSD17B6	6	0
RUNX1	5	0
IRS4	5	0
PSRC1	5	1
PPM1D	5	0
SOCS2	5	0
APLN	5	1
PER3	5	2
TNFRSF10A	5	1
GCM2	5	0
EXO1	5	1
ARHGEF11	5	0
EIF2AK3	5	0
KL	5	0
PTER	5	0
MICA	5	1
CDKN1C	5	1
TLR6	5	0
ADAM30	5	0
FAF1	5	2
SORCS1	5	1
PEMT	5	0
SORBS1	5	0
CGA	5	0
ALB	5	1
AHR	5	1
EDNRA	5	0
DCN	5	3
DAXX	5	0
CYP2J2	5	0
CYP2A6	5	0
DIO1	5	0
CILP2	5	1
BCDIN3D	5	0
SERPINA12	5	0
CPB2	5	0
CPT1A	5	0
ANKLE1	5	0
SCGB3A2	5	1
TAGAP	5	0
TIPARP	5	1
ALOX5AP	5	0
FUT2	5	0
LAMA1	5	0
GHSR	5	0
FOXD3	5	1
MLH3	5	1
GFPT1	5	0
F12	5	0
F9	5	1
CAMTA1	5	0
FN1	5	1
IRF5	5	0
CXCL10	5	1
ITGB1	5	3
KCNJ1	5	0
LIN28B	5	0
TMEM195	5	1
ACACA	5	0
HSD3B1	5	0
HTR2A	5	0
GRK5	5	0
GPX3	5	0
GPX4	5	1
RAPGEF1	5	0
HABP2	5	0
P2RX7	5	0
OLR1	5	0
PBX1	5	0
PAX6	5	0
NOX4	5	0
PDE4D	5	1
PCK2	5	0
CIMT	5	1
ARNT	5	0
LIG4	5	2
LCAT	5	1
LCT	5	0
ARNTL	5	1
MMP12	5	0
ABCC1	5	0
RNR1	5	0
ND4	5	0
ND2	5	1
MTHFD1	5	1
MT2A	5	1
MSRA	5	0
MC2R	5	1
MC3R	5	0
MGMT	5	0
SIAE	5	0
UGT1A7	5	0
ATRX	5	0
POU5F1	5	2
ARL15	5	3
NADSYN1	5	0
PMS1	5	1
PLIN	5	1
PLIN1	5	1
PLAT	5	1
PDGFRB	5	1
WWOX	5	1
PTH1R	5	0
TAS2R38	5	1
KIR2DL5B	5	0
FEM1A	5	0
PRKAB1	5	0
PRKAB2	5	0
PRKCQ	5	0
APOM	5	0
MAPK1	5	1
PRODH	5	0
BTNL2	5	0
SELS	5	0
PRKCA	5	0
PRKCB	5	0
CUBN	5	1
CALCA	5	0
NR0B2	5	0
CASQ1	5	1
GPR174	5	0
CARS	5	2
SPRY4	5	0
NCOA3	5	1
UMOD	5	1
DIRC3	5	0
TRPV1	5	0
VEGFC	5	3
XPA	5	0
C4A	5	0
TRAF1	5	0
TP73	5	0
C5	5	0
TIMP2	5	0
TIMP3	5	1
TH	5	0
P2RY12	5