|
G |
Adnp2 |
ADNP homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,571,870...73,597,088
|
|
G |
Atp9b |
ATPase phospholipid transporting 9B (putative) |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:74,176,863...74,368,993
|
|
G |
Ctdp1 |
CTD phosphatase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,854,277...73,916,232
|
|
G |
Galr1 |
galanin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:78,046,803...78,062,359
|
|
G |
Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,682,286...73,690,061
|
|
G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,742,224...73,810,420
|
|
G |
Mbp |
myelin basic protein |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:75,855,878...75,966,404
|
|
G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:76,321,386...76,430,997
|
|
G |
Pard6g |
par-6 family cell polarity regulator gamma |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,497,992...73,565,048
|
|
G |
Rbfa |
ribosome binding factor A |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,639,264...73,648,914
|
|
G |
Sall3 |
spalt-like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:74,406,066...74,425,974
|
|
G |
Slc66a2 |
solute carrier family 66 member 2 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,702,472...73,739,678
|
|
G |
Txnl4a |
thioredoxin-like 4A |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia |
ClinVar |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 PMID:34713892 More...
|
|
NCBI chr18:73,659,107...73,674,893
|
|
G |
Zfp236 |
zinc finger protein 236 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:75,976,478...76,072,428
|
|
G |
Zfp516 |
zinc finger protein 516 |
|
ISO |
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA |
ClinVar |
PMID:25434003 |
|
NCBI chr18:76,286,453...76,386,526
|
|
|
G |
Adnp2 |
ADNP homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,571,870...73,597,088
|
|
G |
Atp9b |
ATPase phospholipid transporting 9B (putative) |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:74,176,863...74,368,993
|
|
G |
Ctdp1 |
CTD phosphatase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,854,277...73,916,232
|
|
G |
Galr1 |
galanin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:78,046,803...78,062,359
|
|
G |
Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,682,286...73,690,061
|
|
G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,742,224...73,810,420
|
|
G |
Mbp |
myelin basic protein |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:75,855,878...75,966,404
|
|
G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:76,321,386...76,430,997
|
|
G |
Pard6g |
par-6 family cell polarity regulator gamma |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,497,992...73,565,048
|
|
G |
Rbfa |
ribosome binding factor A |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,639,264...73,648,914
|
|
G |
Sall3 |
spalt-like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:74,406,066...74,425,974
|
|
G |
Slc66a2 |
solute carrier family 66 member 2 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:73,702,472...73,739,678
|
|
G |
Txnl4a |
thioredoxin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition CTD Direct Evidence: marker/mechanism DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: |
OMIM ClinVar CTD RGD |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 PMID:34713892 PMID:25434003 PMID:28905882 More...
|
RGD:11531484, RGD:155882456 |
NCBI chr18:73,659,107...73,674,893
|
|
G |
Zfp236 |
zinc finger protein 236 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:75,976,478...76,072,428
|
|
G |
Zfp516 |
zinc finger protein 516 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr18:76,286,453...76,386,526
|
|