Gonadal dysgenesis

Disease Term Disease ID Gene Symbol References
Gonadal Dysgenesis C0018051 NR0B1
ERCC2
ERCC3
FGFR3
FMR1 22043169
FSHR
NR5A1
GATA4
GTF2E2
HSD17B4
KIT
MAP3K1
SOX9
SRY
STK11
VAMP7
WT1
RNF113A
BCL10
BMP15
RXYLT1
ZFPM2
SPIDR
PSMC3IP
DHH
WWOX
TWNK
MRPS22
NUP107 26485283
DMRT3
TOE1
MPLKIP
GTF2H5
Gonadal Dysgenesis, 45,X C0242526 CAT 25101153
GH1 15151564
NOS2 25101153
SOD1 25101153
SOD2 25101153
Gonadal Dysgenesis, 46,XY C0018054 DMRT1 22821627
NR5A1 15070943, 11932325, 10369247
MAP3K1 21129722
SOX9 22051515
SRY 27576690
WT1 21314844
ZFPM2 16103912
DHH
CBX2 19361780
Gonadal Dysgenesis, 46,XX C0949595 FSHR 12915623, 7553856, 9851774, 11889179, 10551778, 9769327, 12571157
NR5A1 19246354
BMP15 15136966
SPIDR 27967308
PSMC3IP 21963259
MRPS22 29566152
NUP107 26485283
POLR3H 30830215
Gonadal dysgenesis XX type deafness C0685838 HSD17B4 27790638, 28830375, 11743515, 23181892, 20673864, 25526675, 2921319, 28263850, 24553428, 24602372
CLPP 23541340
LARS2 28263850, 28832386, 27650058, 26970254, 26537577, 26657938, 29205794, 23541342, 28000701, 27604308
HARS2 21464306
ERAL1 28449065
TWNK 25355836
SGO2 27629923
Gonadal Dysgenesis, Mixed C0018055 SRY 20699606