|
G |
Barx1 |
BARX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:15,990,412...15,993,887
|
|
G |
Fam120a |
family with sequence similarity 120 member A |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:15,890,151...15,981,337
|
|
G |
Fbp1 |
fructose-bisphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:2,207,271...2,230,076
|
|
G |
Fbp2 |
fructose-bisphosphatase 2 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:2,236,088...2,253,702
|
|
G |
Mfsd14b |
major facilitator superfamily domain containing 14B |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:77,895...130,837
|
|
G |
Mirlet7a1 |
microRNA let-7a-1 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:16,320,133...16,320,226
|
|
G |
Mirlet7d |
microRNA let-7d |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:16,115,893...16,115,990
|
|
G |
Mirlet7f-1 |
microRNA let7f-1 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:16,114,130...16,114,226
|
|
G |
Phf2 |
PHD finger protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:15,783,221...15,851,209
|
|
G |
Ptpdc1 |
protein tyrosine phosphatase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:16,028,964...16,076,512
|
|
G |
Zfp169 |
zinc finger protein 169 |
|
ISO |
ClinVar Annotator: match by term: Hiatus hernia |
ClinVar |
|
|
NCBI chr17:16,139,204...16,167,242
|
|
|
G |
Gon7 |
GON7 subunit of KEOPS complex |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome |
ClinVar |
PMID:25741868 PMID:31481669 |
|
NCBI chr 6:127,647,389...127,663,276
|
|
G |
Lage3 |
L antigen family, member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
|
NCBI chr X:152,138,209...152,139,632
|
|
G |
Osgep |
O-sialoglycoprotein endopeptidase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Galloway-Mowat syndrome |
CTD ClinVar |
PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 |
|
NCBI chr15:24,137,149...24,144,568
|
|
G |
Tp53rka |
Tp53 tumor protein p53 regulating kinase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
|
NCBI chr 3:174,638,962...174,645,198
|
|
G |
Tprkb |
Tp53rk binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
|
NCBI chr 4:118,342,910...118,357,908
|
|
G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome |
ClinVar |
PMID:25741868 PMID:30079490 |
|
NCBI chr20:9,587,205...9,611,434
|
|
G |
Wdr73 |
WD repeat domain 73 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Galloway-Mowat syndrome |
CTD ClinVar |
PMID:25466283 PMID:25741868 |
|
NCBI chr 1:134,860,329...134,868,475
|
|
G |
Zfp592 |
zinc finger protein 592 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20531441 |
|
NCBI chr 1:144,355,227...144,411,686
|
|
|
G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 |
ClinVar |
PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:36,332,190...36,370,324
|
|
G |
Wdr73 |
WD repeat domain 73 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition |
OMIM ClinVar |
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:27001912 PMID:28492532 PMID:29127259 PMID:30315938 PMID:31130284 More...
|
|
NCBI chr 1:134,860,329...134,868,475
|
|
G |
Zfp592 |
zinc finger protein 592 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 |
ClinVar |
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 |
|
NCBI chr 1:144,355,227...144,411,686
|
|
|
G |
C5h1orf122 |
similar to human chromosome 1 open reading frame 122 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition |
ClinVar |
PMID:28492532 PMID:31481669 |
|
NCBI chr 5:137,109,093...137,110,130
|
|
G |
Yrdc |
yrdC N(6)-threonylcarbamoyltransferase domain containing |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition |
OMIM ClinVar |
PMID:28492532 PMID:31481669 PMID:34545459 |
|
NCBI chr 5:137,110,244...137,115,127
|
|
|
G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition |
OMIM ClinVar |
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 |
|
NCBI chr X:152,138,209...152,139,632
|
|
|
G |
Osgep |
O-sialoglycoprotein endopeptidase |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition |
OMIM ClinVar |
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 PMID:29127259 PMID:30141175 PMID:31564459 PMID:33333793 PMID:33532864 PMID:36063408 PMID:36856752 More...
|
|
NCBI chr15:24,137,149...24,144,568
|
|
|
G |
Tp53rka |
Tp53 tumor protein p53 regulating kinase A |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 |
|
NCBI chr 3:174,638,962...174,645,198
|
|
|
G |
Tprkb |
Tp53rk binding protein |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 |
|
NCBI chr 4:118,342,910...118,357,908
|
|
|
G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 |
OMIM ClinVar |
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 PMID:30079490 PMID:31289202 More...
|
|
NCBI chr20:9,587,205...9,611,434
|
|
|
G |
Nup107 |
nucleoporin 107 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 |
OMIM ClinVar |
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 PMID:30179222 More...
|
|
NCBI chr 7:53,353,740...53,398,345
|
|
|
G |
Nup133 |
nucleoporin 133 |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition |
OMIM ClinVar |
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 |
|
NCBI chr19:51,891,606...51,941,243
|
|
|
G |
Gon7 |
GON7 subunit of KEOPS complex |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 |
OMIM ClinVar |
PMID:25741868 PMID:31481669 |
|
NCBI chr 6:127,647,389...127,663,276
|
|