Bardet-biedl syndrome

Disease Term Disease ID Gene Symbol References
Bardet-Biedl Syndrome C0752166, 110 BBS1 20876674, 23143442, 12677556, 22940089, 23432027, 21517826, 27032803, 26518167, 18032602, 20498079, 12118255, 30718709, 15770229, 21052717, 12920096, 12524598, 12837689, 16327777, 18766993, 28224992, 18669544, 18327255, 17980398, 30614526, 22410627, 15314642, 20177705, 21642631, 22581970
BBS2 25133751, 20498079, 16877420, 21052717, 11285252, 25533962, 30614526, 28800606, 16909204, 20177705, 21157496, 22410627, 24608809, 19402160, 25999675, 23432027, 11567139, 21344540, 23829372, 12837689, 25541840, 21642631, 25412400, 25988237
BBS4 11381270, 30718709, 19402160, 30614526, 24849935, 27208204
NPHP1 24746959
ALMS1 22773737
MKKS 30614526, 18094050, 10802661, 10973238, 20498079
SDCCAG8 20835237, 22190896
IFT27 30761183, 24488770
TRIM32 21775502, 15786463, 11822024, 23142638
ASTN2 11822024, 15786463, 23142638, 21775502
IFT172 25168386
TRAPPC3
BBS9 16380913, 30614526
LZTFL1 22510444
MKS1 18327255, 16415886
PIGX 29127258
BBS7 23572516, 21642631, 22500027, 12567324, 26518167, 30614526, 19402160, 20498079
BBS10 21209035, 23219996, 21052717, 16582908, 21157496, 27486776, 22353939, 25982971, 28808579, 20177705, 23591405, 23403234, 27788217, 22773737, 20498079, 20805367, 24041679, 27385962, 17106446, 22410627, 19190184, 21044901, 30718709, 25366773, 5982971, 20472660, 17980398, 30614526, 27245532
CEP290 18327255
ARL6 21282186
CEP19 29127258
TMEM67 18327255
BBIP1 24026985
TTC8
BBS5 26325687, 30614526, 15137946, 30718709
CFAP418 27008867
BBS12 20080638, 30614526, 21642631, 17160889, 24611592, 20827784, 23591405, 20498079
ZDHHC24 22581970, 15314642, 21517826, 12524598, 12837689, 12677556, 28224992, 12118255, 23143442, 18669544, 22410627, 27032803, 21642631, 18032602, 15770229, 20498079, 22940089, 18766993, 20876674, 16327777, 30614526, 20177705, 26518167, 30718709, 17980398
WDPCP
Bardet-Biedl syndrome 1 (disorder) C2936862 BBS1 20498079, 21052717, 11567139, 21520335, 12524598, 26518167, 26261414, 21517826, 23143442, 20876674, 22410627, 22773737, 19797195, 20120035, 21344540, 28143435, 12677556, 20177705, 22940089, 27659767, 12920096, 12118255, 23565731, 12567324, 18032602, 22581970, 23943788, 25170860, 21642631, 15770229, 22353939
BBS2
BBS4
MKKS 10802661, 28761321
TRIM32 17994549
BBS9
WDPCP
MKS1 16415886
BBS7
CCDC28B 23015189
BBS10
CEP290 17564974, 17345604
ARL6 19097054, 15258860, 19956407
TMEM67 16415887
TTC8 20451172
BBS5
BBS12
ZDHHC24 25170860, 26518167, 21517826, 22581970, 12524598, 20177705, 20876674, 12118255, 23943788, 23565731, 12677556, 21344540, 15770229, 28143435, 21052717, 20498079, 22940089, 23143442, 12920096, 18032602, 22773737, 21642631
KIF7 21552264
Bardet-Biedl syndrome 2 (disorder) C2936863 BBS2 27659767, 30293640, 11285252, 21642631, 27894351, 24608809, 16877420, 18203199, 21344540, 25999675, 26325687, 20120035, 11567139, 25412400, 12837689, 12872256, 23829372, 26518167, 22410627, 14520415, 26078953, 22773737, 15666242, 12677556, 21052717, 20498079, 25541840, 16823392, 12920096, 28143435, 15770229, 27032803
Bardet-Biedl syndrome 4 (disorder) C2936864 BBS4 26518167, 12677556, 11381270, 15666242, 12872256, 12016587, 15770229, 20498079
BARDET-BIEDL SYNDROME 13 C2673873 LPO 16415886, 17397051
MKS1 4886560, 18327255, 26092869, 23454480, 17397051, 21228398, 17377820, 17437276, 26490104, 24886560, 16415886, 27570071
BARDET-BIEDL SYNDROME 6 C1858054 MKKS 15770229, 11179009, 15731008, 28761321, 15666242, 10973238, 18094050, 26900326, 12107442, 20080638, 12920096, 12677556, 10973251, 10802661, 21344540, 22152675, 28753627, 11567139
BARDET-BIEDL SYNDROME 16 C3889474 SDCCAG8 22190896, 20835237, 25529582
BARDET-BIEDL SYNDROME 19 C3889475 IFT27 29704304, 30761183, 24488770
BARDET-BIEDL SYNDROME 11 C1859569 TRIM32 11822024, 16606853
ASTN2
BARDET-BIEDL SYNDROME 9 C1859567 BBS9 16380913, 26085087, 26518167
BARDET-BIEDL SYNDROME 15 C3150127 WDPCP 27158779, 20671153
BARDET-BIEDL SYNDROME 17 C3714980 LZTFL1 23692385, 27312011, 22510444
BARDET-BIEDL SYNDROME 7 C1859565 BBS7 21344540, 12567324, 12677556, 26518167, 15770229
BARDET-BIEDL SYNDROME 10 C1859568 BBS10 16582908, 17106446, 20120035, 27385962, 24400638, 20472660, 27788217, 22958920, 20876674, 25170860, 21517826, 25366773, 21044901, 20080638, 16823392, 21344540, 28808579, 27032803, 22773737, 21642631, 20498079, 21463199, 25988237, 20805367, 20177705, 27959697, 21157496, 21209035, 23219996, 24611592, 26518167, 25982971, 26003401, 21052717, 27894351, 22353939, 24041679, 27659767, 24746959
BARDET-BIEDL SYNDROME 20 C4310707 IFT74 27486776
BARDET-BIEDL SYNDROME 14 (disorder) C2673874 CEP290 18327255, 30055837, 16909394
TMEM67 26191240, 19058225, 613550
Bardet-Biedl syndrome 3 C1859564 ARL6 19858128, 15258860, 23219996, 15314642, 19097054
BARDET-BIEDL SYNDROME 18 C3806174 BBIP1 24026985
BARDET-BIEDL SYNDROME 8 C1859566 TTC8 14520415, 19402160
BARDET-BIEDL SYNDROME 5 C3892039 BBS5 18203199, 15137946, 21344540
BARDET-BIEDL SYNDROME 21 C4319932 CFAP418 26854863, 27008867
CFAP418-AS1
BARDET-BIEDL SYNDROME 12 C1859570 BBS12 20120035, 17160889, 20080638, 25133751, 21344540, 24611592, 21642631, 20648243, 20827784