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Index of genetic diseases offered by AC Gen Reading Life


Search your disease / gen
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Disease/Phenotype Phenotype MIM number Gene Symbol Gene Name
Bardet-Biedl      
Bardet-Biedl syndrome 1, modifier of 209900 ARL6  ADP-ribosylation factor-like 6
Bardet-Biedl syndrome 14 209900 CEP290  centrosomal protein 290kDa
Bardet-Biedl syndrome 3 209900 ARL6  ADP-ribosylation factor-like 6
Bart-Pumphrey syndrome 149200 GJB2  gap junction protein, beta 2, 26kDa
Barth syndrome 302060 TAZ tafazzin
Basal cell carcinoma 7 614740 TP53  tumor protein p53
Basal cell nevus syndrome 109400 PTCH1  patched 1
Becker muscular dystrophy 300376 DMD  dystrophin
Beckwith-Wiedemann syndrome 130650 NSD1  nuclear receptor binding SET domain protein 1
Best macular dystrophy 153700 BEST1  bestrophin 1
Bestrophinopathy 611809 BEST1  bestrophin 1
Biotinidase deficiency 253260 BTD biotinidase
Blepharophimosis, epicanthus inversus, and ptosis, type 1 110100 FOXL2 forkhead box L2
Bone mineral density variation QTL 166710 COL1A1  collagen, type I, alpha 1
Brachydactyly      
Brachydactyly, type A1, C 615072 GDF5  growth differentiation factor 5
Brachydactyly, type A2 112600 GDF5  growth differentiation factor 5
Brachydactyly, type B1 113000 ROR2  receptor tyrosine kinase-like orphan receptor 2
Brachydactyly, type C 113100 GDF5  growth differentiation factor 5
Brain small vessel disease with Axenfeld-Rieger anomaly 607595 COL4A1  collagen, type IV, alpha 1
Brain small vessel disease with hemorrhage 607595 COL4A1  collagen, type IV, alpha 1
Brain tumor-polyposis syndrome 2   APC  adenomatous polyposis coli
Branchiootorenal      
Branchiootorenal syndrome 1 602588 EYA1 eyes absent homolog 1 (Drosophila)
Branchiootorenal syndrome 1, with or without cataracts 113650 EYA1 eyes absent homolog 1 (Drosophila)
Branchiootorenal syndrome 2 610896 SIX5  SIX homeobox 5
Branchiootorenal syndrome 3 608389 SIX1  SIX homeobox 1
Breast and colorectal cancer, susceptibility to   CHEK2  checkpoint kinase 2
Breast cancer 114480 TP53  tumor protein p53
Breast cancer, susceptibility to 114480 ATM ataxia telangiectasia mutated
Breast cancer, susceptibility to 114480 CHEK2  checkpoint kinase 2
Bronchiectasis with or without elevated sweat chloride 1, modifier of 211400 CFTR  cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Brugada      
Brugada syndrome 1 601144 SCN5A sodium channel, voltage-gated, type V, alpha subunit
Brugada syndrome 2 611777 GPD1L  glycerol-3-phosphate dehydrogenase 1-like
Brugada syndrome 3 611875 CACNA1C  calcium channel, voltage-dependent, L type, alpha 1C subunit
Brugada syndrome 4 611876 CACNB2  calcium channel, voltage-dependent, beta 2 subunit
Brugada syndrome 5 612838 SCN1B sodium channel, voltage-gated, type I, beta subunit
Brugada syndrome 6 613119 KCNE3    potassium voltage-gated channel, Isk-related family, member 3
Brugada syndrome 7 613120 SCN3B  sodium channel, voltage-gated, type III, beta subunit
Brugada syndrome 8 613123 HCN4  hyperpolarization activated cyclic nucleotide-gated potassium channel 4

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