|
| Gene | OMIM | Description | Patient 1 | Patient 2 | Patient 3 |
|
| ABCC4 | 605250 | ATP-binding cassette, subfamily C, member 4 | | | |
| ADPRHL1 | 610620 | ADP-ribosylhydrolase 1 | | | |
| ARHGEF7 | 605477 | Rho guanine nucleotide exchange factor 7 | | | |
| ATP11A | 605868 | ATPase, class VI, type 11A | | | |
| ATP4B | 137217 | ATPase, H+, K+ transporting, beta | | | |
| CARS2 | 612800 | Cysteinyl-tRNA synthetase 2 | | | |
| CLYBL | 609686 | Citrate lyase beta-like | | | |
| COL4A1 | 120130 | Angiopathy, hereditary, with nephropathy, aneurysmal | | | |
| COL4A2 | 120090 | Collagen IV, alpha-2 polypeptide | | | |
| DAOA | 607408 | {Schizophrenia}, 181500 (2) | | | |
| DCT | 191275 | Dopachrome tautomerase | | | |
| DNAJC3 | 601184 | DNA J, E. coli, homolog of, subfamily C, member 3 | | | |
| EFNB2 | 600527 | Eph-related receptor tyrosine kinase ligand 5 | | | |
| ERCC5 | 133530 | Cerebrooculofacioskeletal syndrome 3 (3) | | | |
| F10 | 227600 | Factor X deficiency (3) | | | |
| F7 | 227500 | Factor VII deficiency (3) | | | |
| FGF14M | 601515 | Spinocerebellar ataxia-27, 609307(3) | | | |
| GAS6 | 600441 | Growth arrest- specific 6 | | | |
| GPC5 | 602446 | Glypican 5 | | | |
| GPC6 | 604404 | Glypican 6 | | | |
| GPR18 | 602042 | G protein-coupled receptor-18 | | | |
| GRK1 | 180381 | Oguchi disease-2, 258100 (3) | | | |
| HS6ST3 | 609401 | Heparan sulfate 6-O-sulfotransferase 3 | | | |
| ING1 | 601566 | Squamous cell carcinoma, head and neck 275355 | | | |
| IRS2 | 600797 | {Diabetes mellitus, noninsulin-dependent} 125853 | | | |
| ITGBL1 | 604234 | Integrin, beta-like 1 | | | |
| KDELC1 | 611613 | KDEL motif-containing 1 | | | |
| LAMP1 | 153330 | Lysosome-associate membrane protein-1 | | | |
| LIG4 | 601837 | LIG4 syndrome, 606593 (3) | | | |
| MIR17 | 609416 | Micro RNA 17 | | | |
| MIR18A | 609417 | Micro RNA 18A | | | |
| MIR19A | 609418 | Micro RNA 19A | | | |
| MIR19B1 | 609419 | Micro RNA 19B1 | | | |
| MIR20A | 609420 | Micro RNA 20A | | | |
| NALCN | 611549 | Sodium leak channel, nonselective | | | |
| PCCA | 232000 | Propionicacidemia, 606054 (3) | | | |
| RAP2A | 179540 | RAP2, member of RAS oncogene superfamily (K-rev) | | | |
| RASA3 | 605182 | Ras p21 protein activator 3 | | | |
| SLC10A2 | 601295 | Bile acid malabsorption, primary (3) | | | |
| SLC15A1 | 600544 | Solute carrier family 15 (oligopeptide transporter) | | | |
| SLTRK5 | 609680 | SLIT- and NTRK-like family, member 5 | | | |
| SLTRK6 | 609681 | SLIT- and NTRK-like family, member 6 | | | |
| SOX1 | 602148 | SRY (Sex determining region Y) box-1 | | | |
| SOX21 | 604974 | SRY (Sex determining region Y) box-21 | | | |
| STK24 | 604984 | Serine/Threonine protein kinase 24 | | | |
| TFDP1 | 189902 | Transcription factor Dp-1 | | | |
| TNFSF13B | 603969 | Tumor necrosis factor ligand superfamily, member 13B | | | |
| TPP2 | 190470 | Tripeptidyl peptidase II | | | |
| UGGT2 | 605898 | UDP-glucose glycoprotein glucosyltransferase 2 | | | |
| UPF3A | 605530 | UPF3 regulator of nonsense transcripts | | | |
| ZIC2 | 603073 | Holoprosencephaly-5, 609637 (3) | | | |
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