| Debug Stats | ### Total Build Time: 11 ms 24.991 KB CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 346 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes- Skipping details on:
CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytesCONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytesCONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 23.321 KBCONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.158 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
|
Genes (19)
Species:
human : 19 | |
| Human | RAI1 | 10743 | retinoic acid induced 1 | | | Human | PREPL | 9581 | prolyl endopeptidase-like | Both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia 2p21del syndrome is a contiguous gene syndrome caused by 179kb deletion containing the SLC3A1 ({104614}), PREPL ({609557}), PPM1B ({603770}), and C2orf34 ({609559}) genes HCS is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the SLC3A1 ({104614}) and PREPL ({609557}) genes | | Human | GTF2IRD1 | 9569 | GTF2I repeat domain containing 1 | Contiguous gene syndrome involving mutation of genes on 7q11.2 | | Human | YWHAE | 7531 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide | A contiguous gene syndrome caused by mutations in the lissencephaly 1 gene (LIS1, {601545}) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (YWHAE, {605066}) | | Human | WT1 | 7490 | Wilms tumor 1 | | | Human | TRPS1 | 7227 | trichorhinophalangeal syndrome I | A contiguous gene syndrome caused by mutations in the zinc finger transcription factor TRPS1 (TRPS1, {604386}) and the exostosin 1 gene (EXT1, {133700}) | | Human | TBX1 | 6899 | T-box 1 | A contiguous gene syndrome involving deletion of the DiGeorge syndrome chromosome region (DGCR) involving mutations in TUP-like enhancer of split 1 (TUPLE1, {600237}) and DiGeorge critical region gene 2 (DGCR2, {600594}) | | Human | SLC3A1 | 6519 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | 2p21del syndrome is a contiguous gene syndrome caused by 179kb deletion containing the SLC3A1 ({104614}), PREPL ({609557}), PPM1B ({603770}), and C2orf34 ({609559}) genes HCS is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the SLC3A1 ({104614}) and PREPL ({609557}) genes Both contiguous gene syndromes show similar features such as cystinuria, growth impairment, and hypotonia | | Human | PAX3 | 5077 | paired box 3 | Autosomal dominant contiguous gene syndrome | | Human | PAFAH1B1 | 5048 | platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | A contiguous gene syndrome caused by mutations in the lissencephaly 1 gene (LIS1, {601545}) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (YWHAE, {605066}) | | Human | OTC | 5009 | ornithine carbamoyltransferase | Describe a contiguous gene syndrome involving the RPGR, OTC and TM4SF2 genes in a male patient with severe neonatal ornithine transcarbamylase deficiency | | Human | IRF1 | 3659 | interferon regulatory factor 1 | Autosomal dominant contiguous gene syndrome | | Human | GTF2I | 2969 | general transcription factor IIi | Contiguous gene syndrome involving mutation of genes on 7q11.2 | | Human | F12 | 2161 | coagulation factor XII (Hageman factor) | Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency | | Human | EXT1 | 2131 | exostosin glycosyltransferase 1 | A contiguous gene syndrome caused by mutations in the zinc finger transcription factor TRPS1 (TRPS1, {604386}) and the exostosin 1 gene (EXT1, {133700}) | | Human | ELN | 2006 | elastin | Contiguous gene syndrome involving mutation of genes on 7q11.2 | | Human | CREBBP | 1387 | CREB binding protein | finding implicates CBP as one of the causative genes for the trisomy 16p13 syndrome, and indicates this is a contiguous gene syndrome | | Human | ARSE | 415 | arylsulfatase E (chondrodysplasia punctata 1) | Hypogonadism (in contiguous gene syndrome patients) Some patients have a contiguous gene syndrome due to loss of adjacent genes (STS, {308100} and KAL1, {308700}) on Xp22.3 via deletions and translocations Anosmia (in contiguous gene syndrome patients) Ichthyosis (in contiguous gene syndrome patients) | | Human | NR0B1 | 190 | nuclear receptor subfamily 0, group B, member 1 | May be seen in combination with Duchenne muscular dystrophy (DMD, {310200}) and/or glycerol kinase deficiency ({307030}) as part of a contiguous gene deletion syndrome |
|
