RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: hemolytic disease of the fetus
Accession: DOID:1098
browse the term
Definition: A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. (DO)
Synonyms: exact_synonym: EF - erythroblastosis foetalis; Erythroblastosis Fetali; Erythroblastosis Fetalis; Hemolytic disease of the fetus and newborn; alloimmune HDFN; fetal erythroblastosis; haemolytic disease due to rhesus isoimmunisation; hemolytic disease of newborn; newborn hemolytic disease; newborn hemolytic diseases; rhesus isoimmunisation of the newborn
related_synonym: BLOOD GROUP--KIDD SYSTEM; RADIN BLOOD GROUP
xref: EFO:1000937 ; ICD10CM:P55 ; ICD10CM:P55.9 ; ICD9CM:773 ; MESH:D004899 ; MONDO:0006760 ; NCI:C101304
For additional species annotation, visit the
Alliance of Genome Resources .
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Ermap
erythroblast membrane associated protein (Scianna blood group)
ISO
ClinVar Annotator: match by term: Radin blood group
ClinVar
PMID:12393480
NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :
RGD
PMID:19129718
RGD:11100009
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Slc14a1
solute carrier family 14 member 1 (Kidd blood group)
ISO
ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM
ClinVar
NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
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Slc29a1
solute carrier family 29 member 1
ISO
ClinVar Annotator: match by term: Fetal Erythroblastosis
ClinVar
NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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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 chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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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
Ensembl chr 4:43,972,507...44,052,161
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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
Ensembl chr12:19,369,004...19,385,877
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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
Ensembl chr 1:79,959,322...79,974,340
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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 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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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...
RGD:9588626
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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Alb
albumin
disease_progression
ISO
RGD
PMID:17195148
RGD:11036098
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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C13h1orf105
similar to human chromosome 1 open reading frame 105
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911200
NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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Ctsa
cathepsin A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
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Dhcr24
24-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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Dnah14
dynein axonemal heavy chain 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646
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Dnah9
dynein, axonemal, heavy chain 9
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564
NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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Ehbp1l1
EH domain binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Fen1
flap structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003
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Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxp3
forkhead box P3
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...
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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Galnt14
polypeptide N-acetylgalactosaminyltransferase 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192
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Gusb
glucuronidase, beta
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...
NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
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Hba-a3
hemoglobin alpha, adult chain 3
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...
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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Hras
HRas proto-oncogene, GTPase
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...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kif19
kinesin family member 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:24549645 PMID:25741868
NCBI chr 4:178,185,418...178,218,484
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Lrrc56
leucine rich repeat containing 56
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...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Mocs3
molybdenum cofactor synthesis 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890
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Mybphl
myosin binding protein H-like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824
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Myo18a
myosin XVIIIa
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:62,654,218...62,755,465
Ensembl chr10:62,654,281...62,755,468
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Myom1
myomesin 1
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
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Neb
nebulin
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 More...
NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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Neu1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Piezo1
piezo-type mechanosensitive ion channel component 1
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:28492532 PMID:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Pigc
phosphatidylinositol glycan anchor biosynthesis, class C
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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Prpf19
pre-mRNA processing factor 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
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...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:10449659 PMID:25741868 PMID:31680349
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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Rit1
Ras-like without CAAX 1
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...
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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Ryr1
ryanodine receptor 1
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...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Ryr3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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Serpina11
serpin family A member 11
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:7590701
RGD:4143453
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Svopl
SVOP like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949 PMID:28749478
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Ubn1
ubinuclein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010
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Vps13d
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20194756 PMID:28167773
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Lymphatic malformation 12
OMIM ClinVar
PMID:25741868 PMID:35235341
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 13
OMIM ClinVar
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Calcrl
calcitonin receptor like receptor
ISO
ClinVar Annotator: match by term: Lymphatic malformation 8
OMIM ClinVar
PMID:25741868
NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
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Cftr
CF transmembrane conductance regulator
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...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Lztr1
leucine zipper like post translational regulator 1
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...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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