Index of genetic diseases offered by AC Gen Reading Life
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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 |
