Disease Term Disease ID Gene Symbol References
Kallmann Syndrome C0162809, 478 DCC 29202173
DUSP6 23643382
FGF8 18596921, 20463092
FGFR1 22319038, 17235395
ANOS1 11531922, 21168128
OTX2 21396578, 24802313
SOX2 24802313, 19623216, 21396578, 17587179
SOX3 24802313, 21396578, 17587179
SOX10 23643381
TACR3 23643382, 19079066
HESX1 19623216, 17587179, 24802313, 21396578, 23465708
FGF17 23643382
HS6ST1 23997646, 21700882
ARNT2 24022475
SEMA3A 22416012
FLRT3 23643382
NSMF 17235395
IL17RD 23643382
CHD7 18834967
WDR11 20887964, 26350204
PROK2 18682503
SPRY4 23643382
KISS1R 23643382
PROKR2 18682503, 17054399, 22319038
CCDC141 28324054
FEZF1 25192046
NDNF
Kallmann Syndrome 1 C1563719 FGF8
FGFR1
GNRHR 22745237
ANOS1 17054399, 23643382, 26708526, 15605412, 21168128, 26278626, 15001591, 8504298, 15471890, 20530987, 28295047, 25077900, 11297579, 8989261, 9589672, 26862482, 17213338, 9719154, 17223984, 23849776, 19696444
CHD7
PROK2
PROKR2
UBA6-DT 22745237
Kallmann Syndrome 2 (disorder) C1563720 FGF8
FGFR1 10942429, 25394172, 21700882, 27502037, 12627230, 23812909, 22927827, 23643382, 15605412, 28008864, 16764984, 24497711, 19820032, 17154279, 15845591, 14613973, 28754744, 7874169, 25759380, 7795583, 25077900, 16606836, 16757108, 24127277, 14564217, 10861678, 25251565, 16957473, 24204987, 26277103, 16882753, 15001591
GNRHR 22745237
ANOS1 23533228
CHD7
PROK2
PROKR2
UBA6-DT 22745237
Kallmann syndrome, type 3, recessive C2930927 FGF8
FGFR1
ANOS1
CHD7
PROK2
PROKR2