HuGE Navigator|Phenopedia|PHGKB

Phenopedia

Endocrine System Diseases

[Click to re-sort the table]
Associated Gene	Total Publication	Meta-analysis Publication
BRCA1	530	17
BRCA2	464	18
BRAF	404	22
TCF7L2	402	48
HLA-DQB1	399	7
HLA-DRB1	358	9
PPARG	352	35
INS	351	32
ACE	260	17
CTLA4	250	23
ADIPOQ	242	31
TNF	219	20
HLA-DQA1	218	6
FTO	215	30
KRAS	215	10
MTHFR	202	35
VDR	200	25
CDKAL1	189	27
KCNJ11	187	25
TP53	183	14
RET	183	8
SLC30A8	183	18
CDKN2A	183	19
APOE	177	12
PTPN22	165	12
IL6	160	16
HHEX	154	16
NOS3	150	17
VEGFA	141	21
CDKN2B	141	15
KCNQ1	138	23
IGF2BP2	133	21
IRS1	130	12
HNF1A	121	1
GCK	107	11
AR	106	9
CAPN10	102	13
GSTM1	101	15
HNF4A	99	8
IL10	97	11
MTNR1B	93	15
CYP21A2	92	0
GSTT1	91	13
PON1	90	4
AGT	86	6
PPARGC1A	83	8
IL1B	83	7
WFS1	83	7
NRAS	81	2
GCKR	79	11
ESR1	79	10
ENPP1	77	10
PIK3CA	74	5
TSHR	72	2
TERT	70	7
SERPINE1	70	12
HLA-B	70	4
HLA-A	68	2
GSTP1	68	8
AGTR1	68	4
HNF1B	68	3
TGFB1	64	8
THADA	63	7
JAZF1	61	9
IDE	60	8
XRCC1	60	11
MC4R	60	5
PTEN	59	7
UCP2	58	4
FSHR	57	6
IGF1	56	3
HRAS	55	3
INSR	53	7
CYP1A1	53	5
COMT	53	4
LEPR	53	2
LPL	52	4
CETP	52	1
IL2RA	52	5
ADRB3	51	4
GHR	50	3
FMR1	50	1
ATM	50	5
TSPAN8	50	7
ABCC8	50	5
PALB2	49	0
SDHB	49	0
ADAMTS9	48	7
FOXE1	48	6
IL18	48	5
HFE	47	2
TLR4	46	3
NOTCH2	46	5
LEP	45	2
SOD2	45	2
EGFR	45	3
CDC123	45	8
CYP17A1	44	3
HP	44	2
VHL	43	1
SDHD	43	0
MEN1	43	0
CCL2	42	4
CHEK2	42	3
IL1RN	41	2
IL4	41	4
LTA	41	0
RETN	40	4
CTNNB1	40	2
IRS2	40	3
ADRB2	39	1
IL1A	39	4
TCF1	39	1
LHCGR	39	5
ABCB1	39	4
TPO	38	1
IFIH1	38	3
ICAM1	38	4
NR3C1	38	0
AGER	38	6
CYP19A1	37	1
CRP	37	4
AKR1B1	37	3
RAGE	37	1
PPARA	37	4
COX8A	36	11
APOA5	35	4
FABP2	35	2
PGR	35	7
G6PC2	35	4
SHBG	35	3
LIPC	34	1
MLH1	34	2
ESR2	34	5
GNAS	34	0
HLA-C	34	0
IFNG	34	0
APOC3	34	1
HSD11B1	34	3
CYP11B2	34	2
APOB	33	2
IGF2	33	4
ABO	33	6
ERCC1	33	4
ERCC2	33	4
AKT1	33	1
MICA	33	1
TG	33	0
NFKB1	32	3
HLA-DPB1	32	1
GLIS3	32	7
ABCA1	32	2
CASR	32	2
CYP2C9	31	3
OGG1	31	2
PAX8	31	4
CAMK1D	31	4
BDNF	30	3
CCR5	30	4
F5	30	1
IL2	29	1
NEUROD1	29	3
MMP9	29	4
TRNL1	29	0
SUMO4	29	4
MSH2	28	1
ADIPOR1	28	2
SDHC	28	0
SLC2A1	28	6
SLC2A2	28	1
RAD51C	28	3
SRD5A2	28	2
HLA-DRB4	28	1
ADRA2A	28	3
CYP3A4	28	2
CDKN1B	27	1
MSH6	27	1
IGFBP3	27	2
ERBB3	27	1
XRCC3	27	8
UCP1	27	2
NF1	27	0
FADS1	26	5
SPINK1	26	1
EXT2	26	4
F2	26	1
PDX1	26	1
GNB3	26	1
CFTR	26	0
DIO2	26	1
CYBA	25	2
SH2B3	25	0
SOD1	25	1
PPARD	25	3
UGT1A1	24	0
PAX4	24	3
SMAD4	24	0
NKX2-1	24	1
UCP3	24	2
ADIPOR2	24	2
NAT2	24	0
ADCY5	24	6
APOA1	24	2
LGR5	24	4
AIP	24	0
CD40	24	1
CAT	23	1
IL12B	23	3
CYP3A5	23	1
STK11	23	1
RAD51	23	4
MBL2	23	1
MMP3	23	1
BCL11A	23	2
PON2	23	2
KCNJ5	22	0
CCL5	22	1
CYP11A1	22	2
CYP1B1	22	2
PARP1	22	1
FGFR1	22	2
GH1	22	1
SH2B1	22	4
PNPLA3	22	0
CLEC16A	21	1
ERBB2	21	3
CYP2C19	21	0
PTPN1	21	2
PTPN2	21	0
PRSS1	21	0
PTH	21	2
SLC22A1	21	0
NBN	21	1
GHRL	21	2
SLC26A4	20	0
PCSK1	20	0
STAT4	20	2
PTGS2	20	3
CYP27B1	20	2
DRD2	20	0
GNPDA2	20	3
AMH	20	2
NEGR1	20	4
INHA	20	4
GPX1	20	1
HMOX1	19	1
IGF1R	19	2
GCG	19	1
GC	19	0
CRY2	19	1
TMEM18	19	3
CYP1A2	19	1
PROX1	19	3
DENND1A	19	3
RB1	19	1
FOXP3	19	1
POMC	19	1
MMP1	19	2
BRIP1	19	1
BMP15	19	1
TNFRSF25	18	2
HMGA2	18	5
CNDP1	18	2
CDH1	18	1
MMP2	18	2
KDR	18	2
PIK3R1	18	3
RBP4	18	1
SELE	18	0
XRCC2	18	6
CYP2C8	18	2
AGTR2	18	1
IL23R	18	3
GAD2	18	0
ALDH2	18	2
APC	18	3
IL13	18	2
ITGB3	18	2
AIRE	17	1
GNRHR	17	1
FGFR2	17	2
GIPR	17	2
CYP2R1	17	0
ARAP1	17	2
ADRB1	17	1
DGKB	17	3
FCRL3	17	1
RAD51D	17	0
PMS2	17	1
DUOX2	17	0
PDCD1	17	3
KIR2DL2	17	0
MIR146A	17	3
MDM2	16	2
KIR2DL3	16	0
NPY	16	1
CCND1	16	2
REN	16	0
BARD1	16	1
VEGF	16	21
FOXL2	16	0
CDKN1A	16	1
EDN1	16	0
MTCH2	16	2
GLP1R	16	2
HIF1A	16	3
IL6R	16	4
IL4R	15	0
FAS	15	0
HBA1	15	0
NR5A1	15	0
CYP11B1	15	0
SREBF1	15	1
KCTD15	15	1
PTPRN	15	0
PTCH1	15	0
SLC2A4	15	0
MPO	15	1
ND1	15	0
KIR3DL1	15	0
APOL1	15	3
ARID1A	15	0
ABCG2	15	2
PDE8B	14	0
KIR2DS4	14	0
KIR2DS1	14	0
KIR2DL1	14	0
LMNA	14	2
LDLR	14	2
C2CD4B	14	2
MTR	14	0
KITLG	14	0
TMEM127	14	0
SLC6A4	14	0
CXCL12	14	1
BACH2	14	2
SLC22A2	14	0
DBP	14	1
NQO1	14	0
CD226	14	0
FSHB	14	3
SIRT1	14	0
INSL3	14	0
IGFBP1	14	2
ITGA2	13	2
KAL1	13	0
IL1R1	13	3
HMGCR	13	3
RAD50	13	1
NAMPT	13	0
CDK4	13	0
PROKR2	13	0
KLF14	13	2
TNFRSF1B	13	2
SELP	13	0
SLC12A3	13	1
ACE2	13	1
PCK1	13	0
KIR2DS5	13	0
KIR3DS1	13	0
MADD	13	1
FADS2	13	3
ELMO1	13	1
CD36	12	0
NOS1AP	12	1
AKR1C3	12	0
SEC16B	12	2
CASP8	12	1
KIT	12	1
MIF	12	1
NEUROG3	12	0
TNFRSF11B	12	0
ACP1	12	0
IL21	12	1
PTPRD	12	2
TRIB3	12	1
PROP1	12	1
TNFAIP3	12	2
STAT3	12	1
POF1B	12	1
TYMS	12	0
DPP4	12	2
CYP24A1	12	0
DHCR7	12	0
CYP2E1	12	1
CDKN2B-AS1	12	2
ACACB	12	5
CFH	12	1
GRB14	12	1
IL8	12	3
IGFBP2	12	2
GDF9	12	0
EPO	12	3
EPHX1	11	1
ERCC4	11	1
ERCC5	11	1
AKT2	11	2
FGF2	11	4
FGB	11	0
COG2	11	3
AMHR2	11	2
DICER1	11	0
IGF2R	11	1
APEX1	11	1
IL12A	11	0
FASLG	11	0
IPF1	11	1
GNRH1	11	1
NRG1	11	0
CD274	11	0
CYP2D6	11	0
ADH1B	11	0
CNR1	11	1
ADD1	11	0
VWF	11	0
SOD3	11	0
SRD5A1	11	2
SPP1	11	1
PRL	11	2
SLC2A9	11	1
BCL2	11	1
SDHA	11	0
UBASH3A	11	1
INSIG2	11	0
SLC47A1	11	1
CIITA	11	1
MTRR	11	0
NPPA	11	1
KISS1	11	0
CLPTM1L	11	3
PRC1	11	2
CCND2	10	1
CD14	10	0
KISS1R	10	0
KIR2DS3	10	0
MAX	10	0
SMAD3	10	2
LRP5	10	0
NOS2	10	1
MSH3	10	1
PPP2R1A	10	0
PPP1R3A	10	1
POR	10	0
PLAU	10	2
PROK2	10	0
KIR2DL5A	10	0
SULT1A1	10	0
TLR2	10	1
TGFBR1	10	2
TGFBR2	10	2
USF1	10	0
XPC	10	0
PPARGC1B	10	1
DUSP9	10	1
AHSG	10	0
KIR2DS2	10	0
CDH13	10	1
CDKN2C	10	0
SLCO1B1	10	0
HMG20A	10	1
GSK3B	10	0
IL28B	10	0
IAPP	10	0
HSPA1B	10	2
MTOR	10	0
PCSK9	10	4
GALT	10	0
FAIM2	10	2
FABP1	10	0
ETV5	10	1
FABP4	9	0
FOXO1	9	0
ATF6	9	1
FOXO3	9	0
GHRHR	9	0
GIP	9	1
IL27	9	1
NR5A2	9	3
FYN	9	2
ALOX12	9	1
DDAH2	9	0
HSD17B4	9	0
IL17A	9	0
GLO1	9	0
GSTA1	9	0
HLA-G	9	1
HLA-DRA	9	0
HLA-DPA1	9	0
CDK6	9	1
EGF	9	3
DNMT3A	9	2
DMRT1	9	0
DCD	9	2
VCAM1	9	1
CXCR4	9	0
CDC73	9	0
TCF2	9	3
TCF20	9	2
BAK1	9	0
BMP7	9	0
NOD2	9	0
PDE11A	9	0
POU1F1	9	0
PRKAA2	9	0
MRE11A	9	1
NOS2A	9	1
NTRK1	9	0
MUTYH	9	0
ATP1A1	9	0
LPA	9	3
KIR2DL4	9	0
LHB	9	0
CD28	9	2
TP53INP1	9	1
CCNE1	9	1
SOCS1	9	0
HESX1	9	0
IL18RAP	8	0
APLN	8	1
NAT1	8	0
SOCS3	8	1
MUC16	8	1
CD4	8	2
ZBED3	8	1
SLC2A10	8	1
SCARB1	8	0
H6PD	8	1
LIN28B	8	0
KIR3DL2	8	0
MAF	8	1
MIR27A	8	2
MYC	8	0
MYH9	8	0
NRF1	8	0
NPY2R	8	0
NFKBIA	8	1
NPPB	8	0
NPC1	8	0
MGMT	8	0
PRKAR1A	8	0
ZFAND6	8	1
RNF43	8	0
BNC2	8	1
SLC11A1	8	1
BMP4	8	1
BDKRB2	8	0
RXRA	8	0
SCD	8	1
RAD52	8	1
PTGS1	8	2
TGFBR3	8	1
TF	8	0
TIMP1	8	1
SSTR5	8	0
PLA2G7	8	0
CACNA1D	8	0
SF1	8	0
UBE2E2	8	1
RXFP2	8	0
LYPLAL1	8	1
ADH1C	8	0
CTGF	8	1
CSF2	8	1
ADRA2B	8	0
CYP2B6	8	0
ODZ1	8	1
UTS2	8	0
KIR3DL3	8	0
NLRP3	8	0
HMGA1	8	1
HK1	8	1
ITGB2	8	1
HSD3B2	8	0
FOXA2	8	1
APOA4	8	1
LOC348120	8	0
APOC1	8	2
ALOX5	8	0
FUT2	8	0
FRMD3	8	2
LPIN1	8	0
FOXC2	8	0
NLRP1	8	1
F7	8	0
F13A1	7	1
ALB	7	1
ERBB4	7	2
FGF8	7	1
FGFR3	7	1
FLT1	7	1
DIANPH	7	2
IDH1	7	0
HTR2C	7	0
HSPA1L	7	0
HSD17B1	7	0
HSPA1A	7	0
ITGA2B	7	0
INPPL1	7	0
INHBB	7	1
CXCL10	7	1
IL15	7	1
IL3	7	0
IGFBP5	7	1
ICOS	7	1
GYS1	7	0
ANGPTL3	7	3
GRB10	7	0
SORCS1	7	1
CHN2	7	2
FST	7	1
NR1H3	7	0
ADA	7	0
CYP21A1P	7	0
EP300	7	1
C2CD4A	7	1
NKX2-5	7	0
DIRC3	7	0
VEGFC	7	3
TACR3	7	0
TAP2	7	0
THRA	7	0
TNFRSF1A	7	0
TCF7	7	0
PSMA6	7	0
FN3K	7	0
RREB1	7	4
BMP2	7	0
VPS13C	7	2
SDHAF2	7	0
WNT4	7	1
ATR	7	1
POU2F1	7	0
ATRX	7	0
OPRM1	7	0
ANGPTL4	7	0
MLXIPL	7	1
PCSK2	7	0
PDGFRA	7	0
SERPINF1	7	2
WWOX	7	2
MTTP	7	0
LPP	7	2
MIR196A2	7	1
KIF11	7	1
LIPE	7	0
LCAT	7	1
BCAR1	7	0
VPS26A	7	1
SPRY4	7	0
NCOA4	7	0
ZNRF3	7	0
KLF11	7	1
FBN3	7	2
LIPG	7	0
LHX4	7	0
TNFRSF10A	7	1
SELENBP1	6	2
EIF2AK3	6	0
KL	6	0
GPR174	6	0
CASP9	6	0
HSD17B6	6	0
RNASET2	6	0
FGF23	6	0
COL18A1	6	1
CARS	6	2
AXIN2	6	0
CD40LG	6	0
CDA	6	0
ARHGEF11	6	0
KCNJ1	6	0
DUOXA2	6	0
LRP2	6	2
CIMT	6	1
MAP3K1	6	1
ABCC1	6	0
MMP7	6	2
MMP12	6	0
NPHS1	6	0
ATP2B3	6	0
MTNR1A	6	0
PDGFRB	6	1
PEPD	6	3
PLTP	6	2
IL23A	6	2
PDE4D	6	1
NOX4	6	0
ARL15	6	3
POLB	6	0
PRKACA	6	0
PRKCB	6	0
SELS	6	0
PKN2	6	2
PRKCZ	6	0
APOM	6	0
MAPK1	6	1
SLC30A10	6	0
RNLS	6	0
RXRG	6	0
SORT1	6	2
CFB	6	0
BLK	6	0
ATXN2	6	1
CCL11	6	1
PRODH	6	0
ZMIZ1	6	0
RAF1	6	1
RBBP8	6	0
RARRES2	6	1
RECQL	6