Location (from NCBI, GRCh38) |
Gene/Locus | Gene/Locus name |
Gene/Locus MIM number |
Phenotype |
Phenotype MIM number |
Inheritance |
Pheno map key |
Comments |
Mouse symbol (from MGI) |
---|---|---|---|---|---|---|---|---|---|
2:663,877-677,406
2p25.3 |
TMEM18 | Transmembrane protein 18 | 613220 | ||||||
2:950,849-1,367,613
2p25.3 |
SNTG2, SYN5 | Syntrophin, gamma-2 | 608715 | ||||||
2:1,374,047-1,543,673
2p25.3 |
TPO, TPX, TDH2A | Thyroid peroxidase | 606765 | Thyroid dyshormonogenesis 2A | 274500 | Autosomal recessive | 3 | ||
2:1,631,887-1,744,901
2p25.3 |
PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7 | Peroxidasin | 605158 | Anterior segment dysgenesis 7, with sclerocornea | 269400 | Autosomal recessive | 3 | ||
2:1,789,113-2,331,275
2p25.3 |
MYT1L, KIAA1106, MRD39 | Myelin transcription factor 1-like | 613084 | Intellectual developmental disorder, autosomal dominant 39 | 616521 | Autosomal dominant | 3 | ||
2:3,188,970-3,377,818
2p25.3 |
EIPR1, TSSC1 | EARP complex and GARP complex interacting protein 1 | 608998 | ||||||
2:3,379,694-3,479,565
2p25.3 |
TRAPPC12, TTC15, PEBAS | Trafficking protein particle complex, subunit 12 | 614139 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | 617669 | Autosomal recessive | 3 | ||
2:3,497,366-3,519,531
2p25.3 |
ADI1, SIPL | Acireductone dioxygenase 1 | 613400 | ||||||
2:3,531,813-3,558,333
2p25.3 |
RNASEH1, PEOB2 | Ribonuclease H1 | 604123 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | Autosomal recessive | 3 | pseudogenes on chr. 17 and chr.1 | |
2:3,575,260-3,580,920
2p25.3 |
RPS7, DBA8 | Ribosomal protein S7 | 603658 | Diamond-Blackfan anemia 8 | 612563 | Autosomal dominant | 3 |