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) |
---|---|---|---|---|---|---|---|---|---|
12:6,904,822-6,914,229
12p13.31 |
LRRC23, SPGF92 | Leucine-rich repeat-containing protein 23 | 620708 | Spermatogenic failure 92 | 620848 | Autosomal recessive | 3 | Lrrc23 | |
12:6,914,580-6,923,697
12p13.31 |
ENO2 | Enolase-2, gamma, neuronal | 131360 | Eno2 | |||||
12:6,924,459-6,942,321
12p13.31 |
ATN1, DRPLA, HRS, NOD, CHEDDA | Atrophin 1 | 607462 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 618494 | Autosomal dominant | 3 | Atn1 | |
Dentatorubral-pallidoluysian atrophy | 125370 | Autosomal dominant | 3 | ||||||
12:6,943,433-6,946,003
12p13.31 |
C12orf57, C10, TEMTYS | Chromosome 12 open reading frame 57 | 615140 | Temtamy syndrome | 218340 | Autosomal recessive | 3 | Grcc10 | |
12:6,943,816-6,943,878
12p13.31 |
RNU7-1, RNU7, AGS9 | RNA, U7 small nuclear, 1 | 617876 | Aicardi-Goutieres syndrome 9 | 619487 | Autosomal recessive | 3 | ||
12:6,946,577-6,961,316
12p13.31 |
PTPN6 | Protein tyrosine phosphatase, nonreceptor-type, 6 | 176883 | Ptpn6 | |||||
12:6,963,699-6,963,766
12p13.31 |
MIR200C, MIRN200C | Micro RNA 200C | 612092 | Mir200c | |||||
12:6,964,097-6,964,191
12p13.31 |
MIR141, MIRN141 | Micro RNA 141 | 612093 | Mir141 | |||||
12:6,965,327-6,970,753
12p13.31 |
PHB2, REA | Prohibitin 2 | 610704 | Phb2 | |||||
12:6,967,337-6,967,606
12p13.31 |
SCARNA12 | Small Cajal body-specific RNA 12 | 615642 |