Disease Term Disease ID Gene Symbol References
Hypogonadism C0020619 ABCA4
NR0B1 7990958
AHR
ABCD1
AR
ARL3
STS
ARSL
RERE
ATRX
BBS1
BBS2
BBS4
BCS1L
BRCA1
BRCA2
CA4
CDKN1C
CGB3 8263139, 9334596
CHRNG
ERCC8
CNGB1
CNGA1
CRX
CYP17A1 18645707
CYP19A1 9177373
DDB2
DMPK
EIF2S3 28055140
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FGFR1
FMR1
FSHB 8263139, 24739304, 18449926
GABRD
GLI2
GLI3
GNAS
GNRH1 20063086
GNRHR 15625238
GUCA1B
HFE
IDH3A
IDH3B
IGF1
IMPDH1
LEP 15070752, 9500540
LEPR 17229951
LHB 1727547, 15602022, 8263139, 18449926
LMNA
SMAD4
MAK
MYH3
NEK2
NPHP1
NRL
OPA1
PCSK1
PDE4D
PDE6A
PDE6G
PDE6B
PEX1
PEX6
POLD1 23770608
POLE
POMC
PPM1B
PRKACA
PRKAR1A
PRL 15829128
PROP1
NECTIN1
RAD51
RAD51C
RBP3
PRPH2
RGR
RHO
RLBP1
ROM1
RP9
RP1
RP2
RPGR
RPE65
SAG
SKI
SLC3A1
SOX10
TAC3 19079066
TACR3 19079066
TGFB1
TP53
TUB
TULP1
USH2A
CLRN1
BEST1
WRN
XPA
XPC
XRCC2
CNBP
LHX3
IFT88
MKKS
CUL4B
OFD1
KCNAB2
PDE8B
FGF17
PROM1
SGPL1
PRPF4
PRPF3
LRAT
SNAP29
RECQL4
PREPL
SEMA3E
IFT140
DHX38
PTDSS1
NR2E3
DNM1L
TOPORS
STUB1
MAD2L2
MERTK
PRPF8
SDCCAG8
IFT27
TRIM32
SNRNP200
DMXL2
SMCHD1
ARHGEF18
CRB1
ARL2BP
PRPF6
FSCN2
SIN3A
PRPF31
ZBTB20
IFT172
PHGDH
BBS9
UBE2T
PSAT1
SCAPER
IMPG2
PDE11A
WDPCP
MRPS7
INPP5K
MAGEL2
LZTFL1
IL17RD
AHI1
MKS1
FANCL
RBM28
RFWD3
BBS7
FANCI
STEAP3
SLC29A3 20140240
POMGNT1
SLC39A4
CHD7
SPATA7
KIZ
HDAC8
KLHL7
ALG1
KIAA1549
FANCM
SLC7A14
HAMP
AGBL5
ALX4
PRDM16
SEMA4A
SIL1
CCDC28B
SLC52A2
PALB2
BBS10
ZNF408
CAMKMT
DHDDS
DCAF17 26612766
IFT74
CEP290
LAS1L
BRIP1
ARL6
FAM161A
ANTXR1
PHF6
SLX4
KISS1R
CDHR1
BBIP1
REEP6
SLC52A3
TTC8
BBS5
ZNF513
HGSNAT
RDH12
HJV
CFAP418
BBS12
EYS
CERKL
PCARE
FEZF1
PRCD
Primary hypogonadism C0948896 NR0B1 7990958
AHSG
BMPR1B
CGB3 8263139, 9334596
CYB5A
CYP17A1 18645707
CYP19A1 9177373
TYMP
FANCA
FANCC
FANCD2
FANCE
FANCB
FSHB 8263139, 18449926, 24739304
NR5A1
GALT
GATA4
GNAS
GNRH1 20063086
GNRHR 15625238
ITGB6
LEP 9500540, 15070752
LEPR 17229951
LHB 8263139, 18449926, 1727547, 15602022
LHCGR
LMNA
MAP3K1
MRE11
PMM2
POLD1 23770608
POLG
PRL 15829128
SCP2
SOX9
SRY
VAMP7
TAC3 19079066
TACR3 19079066
WT1
ALMS1
CLPP
CTDP1
BMP15
POLR1C
POLR3A
ZFPM2
AMACR
COQ2
RRM2B
DHH 30298535
WWOX
RIN2
SAMD9
SLC29A3 20140240
POLR3B
TWNK
DMRT3
SIL1
DCAF17
MGME1
MCM9
SOHLH1 25774885
Hypogonadism, Isolated Hypogonadotropic C3489396 NR0B1 7990958
CGB3 9334596, 8263139
CYP17A1 18645707
CYP19A1 9177373
FGFR1 24204987
FSHB 24739304, 8263139, 18449926
GNRH1 20063086
GNRHR 15625238
LEP 15070752, 9500540
LEPR 17229951
LHB 18449926, 15602022, 1727547, 8263139
POLD1 23770608
PRL 15829128
TAC3 19079066
TACR3 19079066
SLC29A3 20140240