Bardet-biedl syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Bardet-Biedl Syndrome C0752166 ALMS1 Causal Pathogenic evidence from ClinVar 22773737 ClinVar
ARL6 Causal Pathogenic evidence from ClinVar 21282186 ClinVar
BBIP1 Causal Pathogenic evidence from ClinVar 24026985 ClinVar
BBS1 Causal Pathogenic evidence from ClinVar 12118255, 12524598, 12677556, 12837689, 12920096, 15314642, 15770229, 16327777, 17980398, 18032602, 18327255, 18669544, 18766993, 20177705, 20498079, 20876674, 21052717, 21517826, 21642631, 22410627, 22581970, 22940089, 23143442, 23432027, 26518167, 27032803, 28224992, 30614526, 30718709 ClinVar
BBS10 Causal Pathogenic evidence from ClinVar 5982971, 16582908, 17106446, 17980398, 19190184, 20177705, 20472660, 20498079, 20805367, 21044901, 21052717, 21157496, 21209035, 22353939, 22410627, 22773737, 23219996, 23403234, 23591405, 24041679, 25366773, 25982971, 27245532, 27385962, 27486776, 27788217, 28808579, 30614526, 30718709 ClinVar
BBS12 Causal Pathogenic evidence from ClinVar 17160889, 20080638, 20498079, 20827784, 21642631, 23591405, 24611592, 30614526 ClinVar
BBS2 Causal Pathogenic evidence from ClinVar 11285252, 11567139, 12837689, 16877420, 16909204, 19402160, 20177705, 20498079, 21052717, 21157496, 21344540, 21642631, 22410627, 23432027, 23829372, 24608809, 25133751, 25412400, 25533962, 25541840, 25988237, 25999675, 28800606, 30614526 ClinVar
BBS4 Causal Pathogenic evidence from ClinVar 11381270, 19402160, 24849935, 27208204, 30614526, 30718709 ClinVar
BBS5 Causal Pathogenic evidence from ClinVar 15137946, 26325687, 30614526, 30718709 ClinVar
BBS7 Causal Pathogenic evidence from ClinVar 12567324, 19402160, 20498079, 21642631, 22500027, 23572516, 26518167, 30614526 ClinVar
BBS9 Causal Pathogenic evidence from ClinVar 16380913, 30614526 ClinVar
CEP19 Causal Pathogenic evidence from ClinVar 29127258 ClinVar
CEP290 Causal Pathogenic evidence from ClinVar 18327255 ClinVar
CFAP418 Causal Pathogenic evidence from ClinVar 27008867 ClinVar
IFT172 Causal Pathogenic evidence from ClinVar 25168386 ClinVar
Bardet-Biedl syndrome 110 ARL6 Causal Pathogenic evidence from ClinVar - ClinVar
BBIP1 Causal Pathogenic evidence from ClinVar - ClinVar
BBS1 Causal Pathogenic evidence from ClinVar - ClinVar
BBS10 Causal Pathogenic evidence from ClinVar - ClinVar
BBS12 Causal Pathogenic evidence from ClinVar - ClinVar
BBS2 Causal Pathogenic evidence from ClinVar - ClinVar
BBS4 Causal Pathogenic evidence from ClinVar - ClinVar
BBS5 Causal Pathogenic evidence from ClinVar - ClinVar
BBS7 Causal Pathogenic evidence from ClinVar - ClinVar
BBS9 Causal Pathogenic evidence from ClinVar - ClinVar
CEP290 Causal Pathogenic evidence from ClinVar - ClinVar
CFAP418 Causal Pathogenic evidence from ClinVar - ClinVar
IFT172 Causal Pathogenic evidence from ClinVar - ClinVar
IFT27 Causal Pathogenic evidence from ClinVar - ClinVar
Bardet-Biedl syndrome 1 (disorder) C2936862 ARL6 Causal Pathogenic evidence from ClinVar 15258860, 19097054, 19956407 ClinVar
BBS1 Causal Pathogenic evidence from ClinVar 11567139, 12118255, 12524598, 12567324, 12677556, 12920096, 15770229, 18032602, 19797195, 20120035, 20177705, 20498079, 20876674, 21052717, 21344540, 21517826, 21520335, 21642631, 22353939, 22410627, 22581970, 22773737, 22940089, 23143442, 23565731, 23943788, 25170860, 26261414, 26518167, 27659767, 28143435 ClinVar
BBS10 Causal Pathogenic evidence from ClinVar - ClinVar
BBS12 Causal Pathogenic evidence from ClinVar - ClinVar
BBS2 Causal Pathogenic evidence from ClinVar - ClinVar
BBS4 Causal Pathogenic evidence from ClinVar - ClinVar
BBS5 Causal Pathogenic evidence from ClinVar - ClinVar
BBS7 Causal Pathogenic evidence from ClinVar - ClinVar
BBS9 Causal Pathogenic evidence from ClinVar - ClinVar
CEP290 Causal Pathogenic evidence from ClinVar 17345604, 17564974 ClinVar
Bardet-Biedl syndrome 3 C1859564 ARL6 Causal Pathogenic evidence from ClinVar 15258860, 15314642, 19097054, 19858128, 23219996 ClinVar
BARDET-BIEDL SYNDROME 18 C3806174 BBIP1 Causal Pathogenic evidence from ClinVar 24026985 ClinVar
BARDET-BIEDL SYNDROME 10 C1859568 BBS10 Causal Pathogenic evidence from ClinVar 16582908, 16823392, 17106446, 20080638, 20120035, 20177705, 20472660, 20498079, 20805367, 20876674, 21044901, 21052717, 21157496, 21209035, 21344540, 21463199, 21517826, 21642631, 22353939, 22773737, 22958920, 23219996, 24041679, 24400638, 24611592, 24746959, 25170860, 25366773, 25982971, 25988237, 26003401, 26518167, 27032803, 27385962, 27659767, 27788217, 27894351, 27959697, 28808579 ClinVar
BARDET-BIEDL SYNDROME 12 C1859570 BBS12 Causal Pathogenic evidence from ClinVar 17160889, 20080638, 20120035, 20648243, 20827784, 21344540, 21642631, 24611592, 25133751 ClinVar
Bardet-Biedl syndrome 2 (disorder) C2936863 BBS2 Causal Pathogenic evidence from ClinVar 11285252, 11567139, 12677556, 12837689, 12872256, 12920096, 14520415, 15666242, 15770229, 16823392, 16877420, 18203199, 20120035, 20498079, 21052717, 21344540, 21642631, 22410627, 22773737, 23829372, 24608809, 25412400, 25541840, 25999675, 26078953, 26325687, 26518167, 27032803, 27659767, 27894351, 28143435, 30293640 ClinVar
Bardet-Biedl syndrome 4 (disorder) C2936864 BBS4 Causal Pathogenic evidence from ClinVar 11381270, 12016587, 12677556, 12872256, 15666242, 15770229, 20498079, 26518167 ClinVar
BARDET-BIEDL SYNDROME 5 C3892039 BBS5 Causal Pathogenic evidence from ClinVar 15137946, 18203199, 21344540 ClinVar
BARDET-BIEDL SYNDROME 7 C1859565 BBS7 Causal Pathogenic evidence from ClinVar 12567324, 12677556, 15770229, 21344540, 26518167 ClinVar
BARDET-BIEDL SYNDROME 9 C1859567 BBS9 Causal Pathogenic evidence from ClinVar 16380913, 26085087, 26518167 ClinVar
BARDET-BIEDL SYNDROME 14 (disorder) C2673874 CEP290 Causal Pathogenic evidence from ClinVar 16909394, 18327255, 30055837 ClinVar
BARDET-BIEDL SYNDROME 21 C4319932 CFAP418 Causal Pathogenic evidence from ClinVar 26854863, 27008867 ClinVar