|
G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:36093370 |
|
NCBI chr 6:57,961,423...57,998,901
|
|
G |
Amn |
amnion associated transmembrane protein |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17698245 |
|
NCBI chr 6:136,132,567...136,140,008
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20972769 |
|
NCBI chr 8:55,423,945...55,425,729
|
|
G |
Asip |
agouti signaling protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32937126 |
|
NCBI chr 3:163,933,768...164,021,377
|
|
G |
Bdkrb1 |
bradykinin receptor B1 |
severity |
IMP |
|
RGD |
PMID:12411434 |
RGD:628496 |
NCBI chr 6:130,275,631...130,284,968
|
|
G |
Calca |
calcitonin-related polypeptide alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7508328 |
|
NCBI chr 1:178,312,636...178,317,588
|
|
G |
Casp3 |
caspase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874808 |
|
NCBI chr16:52,395,539...52,413,794
|
|
G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874808 |
|
NCBI chr 9:67,747,109...67,806,699
|
|
G |
Casp9 |
caspase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874808 |
|
|
|
G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874808 |
|
NCBI chr 3:110,297,340...110,329,526
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194622 PMID:27028940 PMID:29908986 PMID:29935983 |
|
NCBI chr 7:130,977,561...131,006,627
|
|
G |
Elane |
elastase, neutrophil expressed |
treatment |
IMP |
|
RGD |
PMID:20860667 |
RGD:10450565 |
NCBI chr 7:9,817,251...9,819,174
|
|
G |
Gdf3 |
growth differentiation factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22613031 |
|
NCBI chr 4:155,831,572...155,835,953
|
|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874808 |
|
NCBI chr16:65,185,574...65,228,742
|
|
G |
Il11 |
interleukin 11 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17980069 |
|
NCBI chr 1:69,069,829...69,076,129
|
|
G |
Il18 |
interleukin 18 |
|
IMP |
|
RGD |
PMID:19497959 |
RGD:4889403 |
NCBI chr 8:59,802,072...59,829,275
|
|
G |
Il1b |
interleukin 1 beta |
treatment |
ISO |
associated with Inflammation |
RGD |
PMID:2611121 |
RGD:7401193 |
NCBI chr 3:137,030,200...137,036,581
|
|
G |
Il4 |
interleukin 4 |
treatment |
ISO |
associated with Inflammation |
RGD |
PMID:23972727 |
RGD:10402790 |
NCBI chr10:38,272,003...38,277,549
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19874808 PMID:19118698 |
RGD:2306981 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15628829 |
|
NCBI chr 1:207,272,738...207,421,998
|
|
G |
Jak3 |
Janus kinase 3 |
treatment |
ISO |
associated with Hypersensitivity, Delayed |
RGD |
PMID:25762693 |
RGD:11533938 |
NCBI chr16:18,418,807...18,432,515
|
|
G |
Kng1 |
kininogen 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9719496 |
|
NCBI chr11:77,812,757...77,835,555
|
|
G |
Kng2 |
kininogen 2 |
treatment |
IEP |
|
RGD |
PMID:20860667 |
RGD:10450565 |
NCBI chr11:77,913,876...77,936,247
|
|
G |
Map2k6 |
mitogen-activated protein kinase kinase 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21544193 |
|
NCBI chr10:95,872,747...95,987,747
|
|
G |
Mettl14 |
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34648132 |
|
NCBI chr 2:211,530,598...211,546,845
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
IEP |
protein:increased activity:serum (rat) |
RGD |
PMID:22019508 |
RGD:5509038 |
NCBI chr10:64,313,335...64,349,221
|
|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
IDA |
|
RGD |
PMID:19396522 |
RGD:4892316 |
NCBI chr18:31,522,783...31,644,508
|
|
G |
Oxt |
oxytocin/neurophysin I prepropeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:5067144 PMID:5538905 |
|
NCBI chr 3:117,782,650...117,783,490
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1459535 PMID:4327920 PMID:8562174 |
|
NCBI chr 6:32,659,137...32,665,175
|
|
G |
Ptger3 |
prostaglandin E receptor 3 |
treatment |
IMP |
|
RGD |
PMID:8138964 |
RGD:10043358 |
NCBI chr 2:246,606,131...246,750,970
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11820457 |
|
NCBI chr13:64,714,063...64,722,320
|
|
G |
Pthlh |
parathyroid hormone-like hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25035110 |
|
NCBI chr 4:180,188,792...180,199,847
|
|
G |
Slc9a1 |
solute carrier family 9 member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20553904 |
|
NCBI chr 5:145,576,341...145,629,630
|
|
G |
Slc9a2 |
solute carrier family 9 member A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20553904 |
|
NCBI chr 9:42,932,001...43,014,447
|
|
G |
Slc9a3 |
solute carrier family 9 member A3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20553904 |
|
NCBI chr 1:29,124,633...29,167,912
|
|
G |
Stat6 |
signal transducer and activator of transcription 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15306842 |
|
NCBI chr 7:65,365,505...65,382,825
|
|
G |
Tac1 |
tachykinin, precursor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7508328 |
|
NCBI chr 4:36,645,344...36,653,548
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874808 |
|
NCBI chr20:3,626,685...3,629,303
|
|
G |
Vip |
vasoactive intestinal peptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7508328 |
|
NCBI chr 1:44,470,232...44,478,561
|
|
|
G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
treatment |
IMP ISO |
associated with Cerebrovascular Accident ClinVar Annotator: match by term: Cerebral edema associated with Neoplasms, Experimental |
ClinVar RGD |
PMID:25741868 PMID:26467025 PMID:27677908 PMID:28492532 PMID:16550187 PMID:23633925 More...
|
RGD:1598635, RGD:12791991 |
NCBI chr 1:105,734,992...105,816,272
|
|
G |
Aqp1 |
aquaporin 1 |
|
IEP ISO |
associated with Anoxia mRNA:increased expression:neocortex, Pyramidal cells (human) |
RGD |
PMID:21560328 PMID:27487831 |
RGD:5148033, RGD:329969876 |
NCBI chr 4:85,812,784...85,824,964
|
|
G |
Aqp3 |
aquaporin 3 (Gill blood group) |
|
ISO |
mRNA:increased expression:neocortex,Pyramidal cells (human) |
RGD |
PMID:27487831 |
RGD:329969876 |
NCBI chr 5:61,035,165...61,040,683
|
|
G |
Aqp4 |
aquaporin 4 |
|
ISO IEP |
associated with Embolism, Fat;protein:increased expression:brain associated with Cerebral Hemorrhage associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane associated with Anoxia |
RGD |
PMID:21187412 PMID:20111877 PMID:20541575 PMID:20720509 PMID:21560328 PMID:20938728 More...
|
RGD:5148010, RGD:5490129, RGD:5490126, RGD:5490122, RGD:5148033, RGD:5148020 |
NCBI chr18:6,782,389...6,799,034
|
|
G |
Avpr1a |
arginine vasopressin receptor 1A |
|
IMP |
associated with Reperfusion Injury |
RGD |
PMID:16671476 |
RGD:2300375 |
NCBI chr 7:59,999,743...60,003,667
|
|
G |
C5 |
complement C5 |
|
IEP |
associated with Cerebral Hemorrhage |
RGD |
PMID:11136932 |
RGD:1600655 |
NCBI chr 3:38,668,174...38,759,468
|
|
G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
|
ISO |
mRNA:decreased expression:neocortex,Pyramidal cells (human) |
RGD |
PMID:27487831 |
RGD:329969876 |
NCBI chr 3:27,779,133...27,944,292
|
|
G |
Cp |
ceruloplasmin |
|
IDA |
|
RGD |
PMID:16671455 |
RGD:1599627 |
NCBI chr 2:104,368,336...104,427,119
|
|
G |
Crh |
corticotropin releasing hormone |
|
ISO |
mRNA:decreased expression:neocortex,Pyramidal cells (human) |
RGD |
PMID:27487831 |
RGD:329969876 |
NCBI chr 2:104,059,184...104,061,048
|
|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
IEP |
associated with Cerebral Hemorrhage;protein:increased expression:cerebral cortex |
RGD |
PMID:18830379 |
RGD:5135068 |
NCBI chr14:17,465,210...17,467,255
|
|
G |
Dmd |
dystrophin |
|
IDA |
associated with Status Epilepticus |
RGD |
PMID:22338606 |
RGD:6771363 |
NCBI chr X:51,070,098...53,437,845
|
|
G |
F2 |
coagulation factor II, thrombin |
|
IEP |
associated with Cerebral Hemorrhage |
RGD |
PMID:20541575 |
RGD:5490126 |
NCBI chr 3:98,051,958...98,065,246
|
|
G |
F2r |
coagulation factor II (thrombin) receptor |
|
IEP |
associated with Cerebral Hemorrhage |
RGD |
PMID:20541575 |
RGD:5490126 |
NCBI chr 2:26,869,343...26,885,856
|
|
G |
Gfap |
glial fibrillary acidic protein |
|
IEP |
associated with Embolism, Fat;protein:increased expression:brain |
RGD |
PMID:20111877 |
RGD:5490129 |
NCBI chr10:88,352,987...88,361,661
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
IEP |
associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain |
RGD |
PMID:23438812 |
RGD:10766444 |
NCBI chr19:13,452,365...13,479,823
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
associated with Reperfusion Injury; protein:increased expression:brain (rat) |
RGD |
PMID:20570121 |
RGD:4145390 |
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Il18 |
interleukin 18 |
treatment |
IDA |
associated with Status Epilepticus |
RGD |
PMID:22338606 |
RGD:6771363 |
NCBI chr 8:59,802,072...59,829,275
|
|
G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
|
ISO |
mRNA:increased expression:neocortex,Pyramidal cells (human) |
RGD |
PMID:27487831 |
RGD:329969876 |
NCBI chr 1:79,956,380...79,974,354
|
|
G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
|
ISO |
|
RGD |
PMID:26347470 |
RGD:11074637 |
NCBI chr 5:51,149,524...51,212,012
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP ISO |
associated with Cerebral Hemorrhage CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:15529013 PMID:20541575 |
RGD:5490126 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Myl9 |
myosin light chain 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17419808 |
|
NCBI chr 3:165,742,020...165,748,409
|
|
G |
Mylk |
myosin light chain kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19943851 |
|
NCBI chr11:79,288,243...79,535,450
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19374494 |
|
NCBI chr10:64,313,335...64,349,221
|
|
G |
Ntn1 |
netrin 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29162556 |
|
NCBI chr10:52,899,933...53,098,591
|
|
G |
Plat |
plasminogen activator, tissue type |
|
IEP ISO |
associated with Burns;mRNA:increased expression:brain CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:29651748 PMID:18718505 |
RGD:6483826 |
NCBI chr16:75,943,061...76,022,037
|
|
G |
Plau |
plasminogen activator, urokinase |
|
IEP ISO |
associated with Burns;mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11677890 PMID:18718505 |
RGD:6483826 |
NCBI chr15:3,505,485...3,511,987
|
|
G |
S100b |
S100 calcium binding protein B |
|
IEP ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19027832 PMID:19147496 |
RGD:5508832 |
NCBI chr20:12,372,345...12,381,159
|
|
G |
Scn3b |
sodium voltage-gated channel beta subunit 3 |
|
ISO |
mRNA:increased expression:neocortex,Pyramidal cells (human) |
RGD |
PMID:27487831 |
RGD:329969876 |
NCBI chr 8:49,527,529...49,550,019
|
|
G |
Serpine2 |
serpin family E member 2 |
|
IEP |
associated with Cerebral Hemorrhage |
RGD |
PMID:18442833 |
RGD:2317927 |
NCBI chr 9:81,124,746...81,188,866
|
|
G |
Serpinf1 |
serpin family F member 1 |
treatment |
ISO |
human protein in a mouse model |
RGD |
PMID:17692294 |
RGD:8554891 |
NCBI chr10:60,250,198...60,262,593
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
mRNA:increased expression:neocortex,Pyramidal cells (human) |
RGD |
PMID:27487831 |
RGD:329969876 |
NCBI chr 1:50,043,323...50,050,168
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21276434 |
|
NCBI chr20:3,626,685...3,629,303
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
IDA IEP |
associated with Anoxia |
RGD |
PMID:15879344 PMID:21560328 |
RGD:1580557, RGD:5148033 |
NCBI chr 9:22,452,854...22,468,194
|
|
|
G |
Aqp1 |
aquaporin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22865611 |
|
NCBI chr 4:85,812,784...85,824,964
|
|
G |
Ift122 |
intraflagellar transport 122 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493458 |
|
NCBI chr 4:148,905,031...148,975,458
|
|
G |
Ubiad1 |
UbiA prenyltransferase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23533172 |
|
NCBI chr 5:164,139,714...164,167,777
|
|
|
G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 |
OMIM ClinVar |
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 More...
|
|
NCBI chr12:24,963,174...24,988,473
|
|
G |
Mdfic |
MyoD family inhibitor domain containing |
|
ISS ISO |
OMIM:617300 ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY |
MouseDO ClinVar |
PMID:25741868 PMID:35235341 |
|
NCBI chr 4:43,972,310...44,052,162
|
|
G |
Slc12a9 |
solute carrier family 12, member 9 |
|
ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:19,368,990...19,385,881
|
|
|
G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
|
ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:79,956,380...79,974,354
|
|
G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
|
ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 PMID:30187933 PMID:31670187 PMID:33181827 PMID:34201899 PMID:36595486 More...
|
|
NCBI chr19:50,544,580...50,606,812
|
|
|
G |
Naxe |
NAD(P)HX epimerase |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy |
ClinVar |
PMID:25741868 PMID:27122014 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445 More...
|
|
NCBI chr 2:173,518,971...173,521,036
|
|
|
G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 |
ClinVar |
PMID:25719457 |
|
NCBI chr16:78,047,591...78,183,360
|
|
G |
Naxe |
NAD(P)HX epimerase |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445 |
|
NCBI chr 2:173,518,971...173,521,036
|
|
|
G |
Naxd |
NAD(P)HX dehydratase |
|
ISO |
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | ClinVar Annotator: match by term: NAXD-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30576410 PMID:31755961 PMID:32462209 PMID:35231119 More...
|
|
NCBI chr16:77,986,148...78,004,200
|
|
|
G |
Lbr |
lamin B receptor |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia DNA:mutations:cds:multiple (human) |
OMIM ClinVar RGD |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 PMID:21327084 More...
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RGD:9588626 |
NCBI chr13:93,539,386...93,564,026
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr19:68,781,168...68,784,194
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G |
Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:17195148 |
RGD:11036098 |
NCBI chr14:17,891,564...17,907,043
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G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:10,614,953...10,635,815
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:151,192,014...151,269,291
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G |
C13h1orf105 |
similar to human chromosome 1 open reading frame 105 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chr13:74,313,320...74,356,322
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G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19911200 |
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NCBI chr18:61,849,821...62,093,876
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:78,862,286...78,877,353
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G |
Ctsa |
cathepsin A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:153,569,106...153,574,983
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G |
Dhcr24 |
24-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:121,344,552...121,371,124
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G |
Dnah14 |
dynein axonemal heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:95,853,735...96,070,327
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G |
Dnah9 |
dynein, axonemal, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 |
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NCBI chr10:50,496,174...50,864,909
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G |
Ehbp1l1 |
EH domain binding protein 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:34645488 |
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NCBI chr 1:212,423,444...212,444,357
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G |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:121,927,266...122,056,700
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G |
Fen1 |
flap structure-specific endonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 1:216,270,016...216,274,873
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G |
Foxc2 |
forkhead box C2 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr19:66,094,718...66,097,420
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G |
Foxp3 |
forkhead box P3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
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NCBI chr X:17,580,380...17,601,181
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chr 7:70,055,012...70,086,781
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G |
Galnt14 |
polypeptide N-acetylgalactosaminyltransferase 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chr 6:21,756,039...21,977,533
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G |
Gusb |
glucuronidase, beta |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
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NCBI chr12:32,337,281...32,350,838
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G |
Hba-a3 |
hemoglobin alpha, adult chain 3 |
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ISO |
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 PMID:20412082 PMID:20507641 PMID:20642338 PMID:23822871 PMID:24275569 PMID:24351118 PMID:24829075 PMID:25741868 PMID:26460264 PMID:26467025 PMID:27173219 PMID:27271331 PMID:29749692 PMID:32860378 PMID:33364739 PMID:36900038 More...
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NCBI chr10:15,311,637...15,312,481
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20301680 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
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NCBI chr 1:205,712,625...205,729,406
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G |
Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:18,418,807...18,432,515
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G |
Kif19 |
kinesin family member 19 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:99,800,185...99,826,546
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:24549645 PMID:25741868 |
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NCBI chr 4:179,916,255...179,949,613
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:20301680 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25741868 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
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NCBI chr 1:196,299,843...196,315,170
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288 |
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NCBI chr11:83,487,717...83,503,896
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G |
Mocs3 |
molybdenum cofactor synthesis 3 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 3:156,939,763...156,941,723
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G |
Mybphl |
myosin binding protein H-like |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 2:196,005,297...196,018,826
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G |
Myo18a |
myosin XVIIIa |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:62,654,218...62,755,465
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G |
Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 |
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NCBI chr 9:118,362,547...118,485,954
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G |
Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,854,175...206,886,276
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G |
Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 More...
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NCBI chr 3:36,613,677...36,811,618
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G |
Neu1 |
neuraminidase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
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NCBI chr20:3,897,480...3,901,745
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr17:9,311,963...9,426,373
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:27479843 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
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NCBI chr19:50,544,580...50,606,812
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 |
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NCBI chr13:74,343,619...74,346,148
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G |
Prpf19 |
pre-mRNA processing factor 19 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 1:216,966,104...216,977,549
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17339163 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:18678287 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21784453 PMID:21901340 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30732632 PMID:30896080 More...
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NCBI chr12:41,026,079...41,085,577
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G |
Rapsn |
receptor-associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:10449659 PMID:25741868 PMID:31680349 |
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NCBI chr 3:77,015,073...77,024,378
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G |
Rit1 |
Ras-like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27699752 PMID:28323383 PMID:28492532 PMID:30266093 PMID:33190430 PMID:33258288 PMID:36274670 More...
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NCBI chr 2:174,180,742...174,195,455
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G |
Rock2 |
Rho-associated coiled-coil containing protein kinase 2 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 6:45,407,823...45,502,773
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
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NCBI chr 1:84,292,578...84,423,824
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G |
Ryr3 |
ryanodine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr 3:99,431,755...99,979,125
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G |
Serpina11 |
serpin family A member 11 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 6:122,903,246...122,912,695
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G |
Sftpa1 |
surfactant protein A1 |
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ISO |
protein:decreased expression:lung |
RGD |
PMID:7590701 |
RGD:4143453 |
NCBI chr16:17,008,180...17,011,686
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G |
Shoc2 |
SHOC2 leucine-rich repeat scaffold protein |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
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NCBI chr 1:252,958,939...253,048,820
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G |
Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:65,464,948...65,510,846
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G |
Svopl |
SVOP like |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 4:66,697,550...66,751,699
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:25741868 PMID:26036949 PMID:28749478 |
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NCBI chr16:69,771,408...69,804,844
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G |
Ubn1 |
ubinuclein 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr10:10,496,576...10,532,010
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
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NCBI chr 5:162,113,732...162,339,121
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chr 8:131,887,728...131,983,866
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G |
Mdfic |
MyoD family inhibitor domain containing |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 12 |
OMIM ClinVar |
PMID:25741868 PMID:35235341 |
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NCBI chr 4:43,972,310...44,052,162
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 13 |
OMIM ClinVar |
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 |
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NCBI chr16:69,771,408...69,804,844
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G |
Calcrl |
calcitonin receptor like receptor |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 8 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 3:89,835,071...89,932,616
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G |
Cftr |
CF transmembrane conductance regulator |
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ISO |
ClinVar Annotator: match by term: Fetal cystic hygroma |
ClinVar |
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
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NCBI chr 4:47,422,084...47,694,646
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fetal cystic hygroma |
ClinVar |
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31825158 More...
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NCBI chr11:83,487,717...83,503,896
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Nuchal bleb, familial |
ClinVar |
PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
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NCBI chr 6:20,286,117...20,363,350
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G |
Ccdc88a |
coiled coil domain containing 88A |
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ISO |
ClinVar Annotator: match by term: PEHO syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:103,104,091...103,256,112
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G |
Igf1 |
insulin-like growth factor 1 |
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ISO |
protein:decreased expression:cerebrospinal fluid: |
RGD |
PMID:11701291 |
RGD:8548849 |
NCBI chr 7:24,169,608...24,249,446
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G |
Kif1a |
kinesin family member 1A |
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ISO |
ClinVar Annotator: match by term: PEHO syndrome |
ClinVar |
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 PMID:26125038 PMID:26486474 PMID:27848944 PMID:28492532 PMID:31455732 PMID:31488895 PMID:31805580 PMID:32737135 PMID:33880452 More...
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NCBI chr 9:101,010,447...101,094,891
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G |
Znhit3 |
zinc finger, HIT-type containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome |
OMIM CTD ClinVar |
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 |
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NCBI chr10:69,775,885...69,790,471
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