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: iron metabolism disease
Accession: DOID:2351
browse the term
Definition: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)
Synonyms: exact_synonym: disorder of iron metabolism; iron disorder; iron metabolism disorder; iron metabolism disorders
primary_id: MESH:D019189
alt_id: RDO:0001410
xref: ICD9CM:275.0
For additional species annotation, visit the
Alliance of Genome Resources .
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Clu
clusterin
ISO
RGD
PMID:18723004
RGD:2301196
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cp
ceruloplasmin
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16988052 PMID:10660599
RGD:727562
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Ftl1
ferritin light chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16822677
NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9884342
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mon1a
MON1 homolog A, secretory trafficking associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632513
NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17163184 PMID:17254562
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Agtr1a
angiotensin II receptor, type 1a
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ankub1
ankyrin repeat and ubiquitin domain containing 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:141,857,623...141,894,624
Ensembl chr 2:141,856,573...141,894,339
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Clrn1
clarin 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
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Commd2
COMM domain containing 2
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:141,848,661...141,852,907
Ensembl chr 2:141,848,680...141,852,888
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1458725 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 PMID:7708681 PMID:7820540 PMID:8641692 PMID:8789443 PMID:9536098 PMID:11756598 PMID:11909923 PMID:12351628 PMID:12572680 PMID:15082597 PMID:15654567 PMID:15885371 PMID:16199547 PMID:16629161 PMID:16775387 PMID:16831606 PMID:17576681 PMID:17710675 PMID:18414213 PMID:19095659 PMID:20301666 PMID:20430895 PMID:20655381 PMID:20801540 PMID:22243965 PMID:22281056 PMID:24033266 PMID:25741868 PMID:25864092 PMID:26777753 PMID:27753142 PMID:28012953 PMID:28258281 PMID:28431603 PMID:28492532 PMID:29482220 PMID:32235485 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cpa3
carboxypeptidase A3
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:102,712,483...102,744,219
Ensembl chr 2:102,712,589...102,744,203
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Cpb1
carboxypeptidase B1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:102,755,241...102,785,628
Ensembl chr 2:102,755,241...102,785,628
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Eif2a
eukaryotic translation initiation factor 2A
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068
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Erich6
glutamate-rich 6
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:142,851,905...142,878,010
Ensembl chr 2:142,851,905...142,884,320
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Gpr171
G protein-coupled receptor 171
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,360,187...143,366,665
Ensembl chr 2:143,359,564...143,366,698
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Gpr87
G protein-coupled receptor 87
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,439,741...143,440,901
Ensembl chr 2:143,439,735...143,458,190
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Gyg1
glycogenin 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
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Hltf
helicase-like transcription factor
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:102,549,724...102,609,492
Ensembl chr 2:102,549,724...102,609,327
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:18414213 PMID:24033266 PMID:28492532
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Igsf10
immunoglobulin superfamily, member 10
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773
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Med12l
mediator complex subunit 12L
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
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Mindy4b
MINDY family member 4B
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,026,685...143,061,966
Ensembl chr 2:143,027,285...143,058,144
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P2ry12
purinergic receptor P2Y12
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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P2ry13
purinergic receptor P2Y13
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,470,437...143,476,360
Ensembl chr 2:143,470,425...143,473,434
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P2ry14
purinergic receptor P2Y14
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:143,372,697...143,413,213
Ensembl chr 2:143,372,697...143,413,141
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Pfn2
profilin 2
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:142,067,102...142,072,938
Ensembl chr 2:142,067,104...142,072,938
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Rnf13
ring finger protein 13
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801
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Selenot
selenoprotein T
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:142,804,387...142,821,438
Ensembl chr 2:142,804,405...142,821,427
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Serp1
stress-associated endoplasmic reticulum protein 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:142,757,254...142,761,243
Ensembl chr 2:142,757,270...142,761,116
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Siah2
siah E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:142,913,924...142,931,752
Ensembl chr 2:142,914,003...142,931,950
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Slc40a1
solute carrier family 40 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20655381
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Tm4sf1
transmembrane 4 L six family member 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:141,456,950...141,466,146
Ensembl chr 2:141,453,310...141,466,146
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Tm4sf4
transmembrane 4 L six family member 4
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:141,570,321...141,621,263
Ensembl chr 2:141,481,902...141,621,200
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Tsc22d2
TSC22 domain family, member 2
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:142,646,778...142,697,977
Ensembl chr 2:142,644,744...142,693,606
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Wwtr1
WW domain containing transcription regulator 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:16629161 PMID:28492532
NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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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
OMIM ClinVar
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:29576450 PMID:29952828 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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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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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Fetal Erythroblastosis
ClinVar
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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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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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: GRACILE syndrome
OMIM ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28427446 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 More...
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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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:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28166811 PMID:28492532 PMID:30518689 PMID:30561119 PMID:32827848 PMID:21327084 More...
RGD:9588626
NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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Hmox1
heme oxygenase 1
ISO
ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
OMIM ClinVar
PMID:9884342 PMID:21088618 PMID:22023467 PMID:26526137 PMID:28492532 PMID:32587840 PMID:33066778 More...
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18624455
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Alad
aminolevulinate dehydratase
treatment
IDA
RGD
PMID:3679087
RGD:12904688
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Alas2
5'-aminolevulinate synthase 2
severity
ISO
DNA:mutation:cds:c.15599C>T,p.520L(human)
RGD
PMID:16446107
RGD:11035246
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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B2m
beta-2 microglobulin
ISS
OMIM:231100
MouseDO
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19252486 PMID:19252488
NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17258727
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Hamp
hepcidin antimicrobial peptide
ISO
juvenile hereditary hemochromatosis, HFE2B, OMIM:602390 ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:12469120 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 PMID:15082576 PMID:15099344 PMID:16574947 PMID:16627556 PMID:17255318 PMID:17576681 PMID:19214511 PMID:19252486 PMID:19787796 PMID:21088809 PMID:21411349 PMID:22297252 PMID:22383097 PMID:25741868 PMID:28492532 PMID:33016646 PMID:12469120 More...
RGD:1599358
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis DNA:missense mutation: :p.C282Y (rs1800562) (human) CTD Direct Evidence: marker/mechanism associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human) DNA:missense mutation:cds:p.S65C (human)
ClinVar CTD RGD
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9546397 PMID:9585606 PMID:9851896 PMID:9851897 PMID:9858853 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10545942 PMID:10545944 PMID:10575540 PMID:10610176 PMID:10612845 PMID:10660483 PMID:10930379 PMID:10953950 PMID:11040194 PMID:11050162 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11903354 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12537660 PMID:12542741 PMID:12584229 PMID:12681966 PMID:12707220 PMID:12737937 PMID:12885340 PMID:12915468 PMID:12952143 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15025725 PMID:15046077 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15477198 PMID:15546588 PMID:15775762 PMID:15858186 PMID:15965644 PMID:16132052 PMID:16186539 PMID:16199547 PMID:16793930 PMID:16879202 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17079357 PMID:17119292 PMID:17210810 PMID:17236123 PMID:17255318 PMID:17258727 PMID:17308297 PMID:17376729 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18317567 PMID:18499578 PMID:18504828 PMID:18566337 PMID:18762941 PMID:19084217 PMID:19159930 PMID:19214108 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:19759876 PMID:19787796 PMID:20107990 PMID:20160468 PMID:20301613 PMID:20560808 PMID:20843714 PMID:21228038 PMID:21243428 PMID:21349849 PMID:21411349 PMID:21452290 PMID:22383097 PMID:22531912 PMID:22624560 PMID:22890139 PMID:23178241 PMID:23429074 PMID:23705020 PMID:23953397 PMID:24033266 PMID:24442307 PMID:24604426 PMID:24729993 PMID:24872867 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:25874029 PMID:26153218 PMID:26365338 PMID:26456104 PMID:26799139 PMID:26975792 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27667161 PMID:27890643 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:29590070 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31436889 PMID:31980526 PMID:32153640 PMID:8696333 PMID:30651232 PMID:12850493 PMID:12190960 PMID:10194428 More...
RGD:7207252 , RGD:14746965 , RGD:10755540 , RGD:8694411 , RGD:8694372
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hjv
hemojuvelin BMP co-receptor
ISO
juvenile hemochromatosis, type 2A, OMIM:602390 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275
RGD:1599478
NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Hmox1
heme oxygenase 1
ISS
OMIM:231100
MouseDO
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Slc11a2
solute carrier family 11 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11439223
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Slc40a1
solute carrier family 40 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD ClinVar
PMID:16457665 PMID:21411349
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Tfr2
transferrin receptor 2
ISO
hemochromatosis, type 3, HFE3, OMIM:604250 ClinVar Annotator: match by term: Hereditary hemochromatosis CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:11313241 PMID:12130528 PMID:12150153 PMID:14633868 PMID:15147384 PMID:16199547 PMID:16424658 PMID:16935854 PMID:17241880 PMID:17562347 PMID:17576681 PMID:17951290 PMID:18245657 PMID:18450729 PMID:18762941 PMID:20301523 PMID:21411349 PMID:21770687 PMID:21901660 PMID:22383097 PMID:22890139 PMID:23556518 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:26408288 PMID:27667161 PMID:28276324 PMID:28492532 PMID:10802645 More...
RGD:1599386
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-238G>A (rs361525) (human) DNA:SNP:promoter:-308G>A (human)
CTD RGD
PMID:16793930 PMID:11389006 PMID:16793930
RGD:12904656 , RGD:12904050
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Bmp2
bone morphogenetic protein 2
ISO
OMIM
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Hamp
hepcidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
PMID:9536098 PMID:12469120 PMID:12915468 PMID:17576681 PMID:19214511 PMID:22297252 PMID:28492532 More...
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1
OMIM ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9546397 PMID:9585606 PMID:9851896 PMID:9851897 PMID:9858853 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10612845 PMID:10660483 PMID:10930379 PMID:10950943 PMID:10953950 PMID:11040194 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12537660 PMID:12542741 PMID:12584229 PMID:12681966 PMID:12707220 PMID:12737937 PMID:12885340 PMID:12915468 PMID:12952143 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15025725 PMID:15046077 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15477198 PMID:15546588 PMID:15775762 PMID:15858186 PMID:15965644 PMID:16132052 PMID:16186539 PMID:16879202 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17079357 PMID:17210810 PMID:17240320 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:18762941 PMID:19084217 PMID:19159930 PMID:19214108 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:19759876 PMID:19787796 PMID:20107990 PMID:20301613 PMID:20560808 PMID:20609690 PMID:20722017 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:22624560 PMID:23178241 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:24872867 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26456104 PMID:26799139 PMID:26975792 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27667161 PMID:27890643 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:29590070 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31436889 PMID:31980526 PMID:32153640 More...
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hjv
hemojuvelin BMP co-receptor
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 PMID:15254010 PMID:15610558 PMID:15811010 PMID:16103117 PMID:17339196 PMID:18827264 PMID:19796184 PMID:22408404 PMID:24033266 PMID:28492532 More...
NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Slc40a1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
PMID:28492532
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Tfr2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of
ClinVar
PMID:12150153 PMID:16424658 PMID:22890139 PMID:23600741 PMID:24055163 PMID:26029709 PMID:28492532 More...
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Hamp
hepcidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of | ClinVar Annotator: match by term: Juvenile hemochromatosis
ClinVar
PMID:12915468 PMID:19214511 PMID:28492532
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2
ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10381492 PMID:10401000 PMID:10431233 PMID:11040194 PMID:11532995 PMID:11812557 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:20301613 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27659401 PMID:27890643 PMID:28492532 PMID:31061747 PMID:31436889 PMID:31980526 PMID:32153640 More...
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hjv
hemojuvelin BMP co-receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Ankrd34a
ankyrin repeat domain 34A
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2A
ClinVar
PMID:28492532
NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
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Hjv
hemojuvelin BMP co-receptor
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2A
OMIM ClinVar
PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 PMID:15254010 PMID:15461631 PMID:15610558 PMID:15775751 PMID:15811010 PMID:16103117 PMID:17339196 PMID:17490902 PMID:17726683 PMID:17938254 PMID:18492090 PMID:18827264 PMID:18976966 PMID:19342478 PMID:19796184 PMID:19907145 PMID:20301349 PMID:21411349 PMID:21901660 PMID:22408404 PMID:24033266 PMID:25741868 PMID:27753142 PMID:28363629 PMID:28492532 PMID:30166352 PMID:30195625 PMID:30389309 More...
NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Polr3gl
RNA polymerase III subunit G like
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2A
ClinVar
PMID:28492532
NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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Txnip
thioredoxin interacting protein
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2A
ClinVar
PMID:28492532
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Hamp
hepcidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2B
OMIM ClinVar
PMID:12469120 PMID:12915468 PMID:15082576 PMID:15198949 PMID:19214511 PMID:21088809 PMID:25741868 PMID:28492532 More...
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Tfr2
transferrin receptor 2
ISO IAGP
ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 DNA:missense mutation:cds:Ala679Gly (rat)
OMIM ClinVar RGD
PMID:9536098 PMID:10802645 PMID:11313241 PMID:12130528 PMID:12150153 PMID:14633868 PMID:15147384 PMID:16424658 PMID:16838333 PMID:17562347 PMID:17576681 PMID:17951290 PMID:18245657 PMID:18450729 PMID:18762941 PMID:20301523 PMID:21524769 PMID:21770687 PMID:21901660 PMID:22890139 PMID:23556518 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:26183747 PMID:26408288 PMID:27667161 PMID:28492532 PMID:23582421 More...
RGD:150520058
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Slc40a1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Hemochromatosis type 4
OMIM ClinVar
PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 PMID:14636642 PMID:15338274 PMID:15692071 PMID:15831700 PMID:16135412 PMID:16351644 PMID:16440176 PMID:16457665 PMID:16813613 PMID:16885049 PMID:17276706 PMID:17490902 PMID:17576681 PMID:17951290 PMID:17997113 PMID:18160816 PMID:19150361 PMID:20460119 PMID:21094556 PMID:21199650 PMID:21231898 PMID:21396368 PMID:21411349 PMID:22584997 PMID:23065513 PMID:23943237 PMID:24714983 PMID:25396007 PMID:25741868 PMID:27896572 PMID:28110135 PMID:28492532 PMID:30002125 PMID:32360131 More...
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Best1
bestrophin 1
ISO
ClinVar Annotator: match by term: Hemochromatosis type 5
ClinVar
PMID:14615048 PMID:28492532
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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Fth1
ferritin heavy chain 1
ISO
ClinVar Annotator: match by term: Hemochromatosis type 5
OMIM ClinVar
PMID:11389486 PMID:14615048 PMID:28492532
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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Tfr2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Hereditary hemochromatosis type 5
ClinVar
PMID:28492532
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Cp
ceruloplasmin
susceptibility
ISO
DNA:splice-site mutation
RGD
PMID:7539672 PMID:7539672
RGD:1599626 , RGD:1599626
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr19:51,883,713...51,886,725
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
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 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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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 5:121,344,637...121,368,853
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
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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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:25546394 PMID:25741868 PMID:28492532 PMID:30293990 PMID:30443250 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: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:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 More...
NCBI chr12:26,701,191...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:20507641 PMID:20642338 PMID:24275569 PMID:24351118 PMID:24829075 PMID:25741868 PMID:26460264 PMID:26467025 PMID:27173219 PMID:27271331 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:20658932 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:31775759 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
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:20658932 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:31775759 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 transcription 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...62,755,464
Ensembl chr10:62,654,281...62,755,468
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949 PMID:28492532
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
G
Neb
nebulin
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532
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: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:30244526 PMID:31680349
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: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 Annotator: match by term: Non-immune hydrops fetalis
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:16032767 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16566035 PMID:16990350 PMID:17020470 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:21597774 PMID:21784453 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:24803665 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30266093 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 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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RGD1309106
similar to hypothetical protein
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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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:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:28492532 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:20583297 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:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
NCBI chr 1:84,292,578...84,423,799
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:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Slc26a3
solute carrier family 26 member 3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349
NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
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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:26036949
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:28492532 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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Ftl1
ferritin light chain 1
ISO
DNA:deletion:5' utr: (human) ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts DNA:mutations:5'utr:
ClinVar OMIM RGD
PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 PMID:8781450 PMID:9226182 PMID:9292547 PMID:9414300 PMID:9414313 PMID:9536098 PMID:9726965 PMID:10366790 PMID:10366804 PMID:10383191 PMID:10759702 PMID:11703332 PMID:11849230 PMID:12199804 PMID:12200611 PMID:12670350 PMID:12730114 PMID:14662596 PMID:15173247 PMID:15690351 PMID:16518306 PMID:16900584 PMID:17182944 PMID:17576681 PMID:18414213 PMID:19176363 PMID:19800271 PMID:21907119 PMID:22881709 PMID:23300176 PMID:23421845 PMID:23592921 PMID:24766965 PMID:25741868 PMID:26633542 PMID:26849797 PMID:27096259 PMID:28492532 PMID:28746593 PMID:30678075 PMID:31414986 PMID:9292547 PMID:22020773 More...
RGD:1598966 , RGD:5509864
NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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Irx5
iroquois homeobox 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581230
NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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Slc11a2
solute carrier family 11 member 2
ISS
OMIM:206100 | OMIM:615234
MouseDO
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Steap3
STEAP3 metalloreductase
ISS
OMIM:206100 | OMIM:615234
MouseDO
NCBI chr13:31,351,954...31,397,344
Ensembl chr13:31,351,954...31,396,519
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11110675
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tfrc
transferrin receptor
ISO
mRNA,protein:decreased expression: erythrocyte:
RGD
PMID:18552213
RGD:11062089
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tnf
tumor necrosis factor
ISO
associated with Arthritis, Rheumatoid
RGD
PMID:18205195
RGD:10450526
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Slc11a2
solute carrier family 11 member 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcytic anemia with liver iron overload
CTD ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 PMID:16439678 PMID:25741868 PMID:28492532 More...
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Steap3
STEAP3 metalloreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:31,351,954...31,397,344
Ensembl chr13:31,351,954...31,396,519
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Slc11a2
solute carrier family 11 member 2
ISO
OMIM
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Steap3
STEAP3 metalloreductase
ISO
ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2
OMIM ClinVar
PMID:22031863
NCBI chr13:31,351,954...31,397,344
Ensembl chr13:31,351,954...31,396,519
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
OMIM ClinVar
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:14638969 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16199547 PMID:16272150 PMID:16437574 PMID:16450344 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26467025 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:32581362 More...
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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App
amyloid beta precursor protein
IEP
mRNA:decreased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Atp7a
ATPase copper transporting alpha
severity
ISO IEP
mRNA:increased expression:duodenum (mouse) DNA:deletion:cds:p.A799_L800del (mouse) mRNA:increased expression:small intestine mucosa (rat)
RGD
PMID:23776592 PMID:23776592 PMID:15637178
RGD:11252172 , RGD:11252172 , RGD:2315589
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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C1qa
complement C1q A chain
IEP
mRNA:increased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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Crp
C-reactive protein
IEP
protein:increased expression:plasma
RGD
PMID:19730160
RGD:5131463
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Cst3
cystatin C
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:18723004
RGD:2301196
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Fn1
fibronectin 1
IEP
mRNA:increased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Gpx1
glutathione peroxidase 1
treatment
IEP ISO
associated with Renal Insufficiency, Chronic
RGD
PMID:7861256 PMID:24691014
RGD:11352760 , RGD:11352819
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:plasma:
RGD
PMID:25097522
RGD:11059505
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hamp
hepcidin antimicrobial peptide
ISO IEP
mRNA:decreased expression:liver
RGD
PMID:17218383 PMID:22457245
RGD:11041606 , RGD:11041634
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
ISO
associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)
RGD
PMID:29194702
RGD:14701052
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hp
haptoglobin
ISO
protein:decreased expression:serum
RGD
PMID:647925
RGD:11041798
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il6
interleukin 6
IEP
associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat)
RGD
PMID:18808386
RGD:11062011
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ireb2
iron responsive element binding protein 2
IEP
mRNA:increased expression:duodenal mucosa (rat) protein:altered activity:intestinal villus of duodenum (rat)
RGD
PMID:18549630 PMID:10095770
RGD:12904038 , RGD:12910699
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Itga2
integrin subunit alpha 2
ISO
DNA:SNP: :807C>T (human)
RGD
PMID:12225391
RGD:11530068
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Kat5
lysine acetyltransferase 5
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:18723004
RGD:2301196
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Pon1
paraoxonase 1
treatment
ISO
protein:decreased activity:serum (human)
RGD
PMID:16684543 PMID:26926576
RGD:11552586 , RGD:11553834
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Slc11a2
solute carrier family 11 member 2
IEP ISO
protein:increased expression:nasal cavity olfactory epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17116712 PMID:17116743
RGD:2311409
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
IEP
protein:decreased expression:erythrocyte, membrane (rat)
RGD
PMID:1317772
RGD:10450513
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17057260
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tf
transferrin
susceptibility
ISO
DNA:missense mutation:exon:p.G277S ClinVar Annotator: match by term: Iron deficiency anemia
ClinVar RGD
PMID:11703331 PMID:12752114 PMID:16398662 PMID:28492532 PMID:11703331
RGD:1601513
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tfrc
transferrin receptor
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism mRNA:increased expression:placenta:
CTD RGD
PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 PMID:26303393 More...
RGD:11062096 , RGD:11062105 , RGD:11062104
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tmprss6
transmembrane serine protease 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18408718 PMID:22169218
NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
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Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:rs1800629 (human)
RGD
PMID:18716131
RGD:10450563
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
IDA
associated with type 2 diabetes mellitus
RGD
PMID:27222135
RGD:13782085
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Best1
bestrophin 1
ISO
ClinVar Annotator: match by term: Iron Overload
ClinVar
PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 PMID:28492532 PMID:28687848 More...
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20801540
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
IEP
protein:enzyme activity:platelet
RGD
PMID:17119848
RGD:9685486
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Epas1
endothelial PAS domain protein 1
treatment
ISO
associated with Beta-Thalassemia;
RGD
PMID:24282296
RGD:11041571
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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Fth1
ferritin heavy chain 1
ISO
DNA:snp:5' utr:c.-165T>A (human) ClinVar Annotator: match by term: Iron Overload CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:10453731 PMID:11389486 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 PMID:28492532 PMID:28687848 PMID:11389486 More...
RGD:737708
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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Ggt1
gamma-glutamyltransferase 1
IEP
protein:increased activity:liver
RGD
PMID:9559866
RGD:14747018
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gpx1
glutathione peroxidase 1
ISO
associated with Beta-Thalassemia
RGD
PMID:16317757
RGD:11352779
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Beta-Thalassemia;DNA:deletion: : (human)
RGD
PMID:19838709
RGD:10755320
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
ISO
associated with Beta-Thalassemia;DNA:deletion: : (human)
RGD
PMID:19838709
RGD:10755320
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hamp
hepcidin antimicrobial peptide
ISO IEP
associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:20801540 PMID:22659129 PMID:19734422 PMID:19524651
RGD:11041610 , RGD:11041720
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
no_association
ISO
DNA:missense mutation: :p.C282Y (human) DNA:missense mutations: :p.C282Y, p.H63D (human) associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human) DNA:missense mutation: :multiple
RGD
PMID:14636644 PMID:10895137 PMID:11869934 PMID:14636644
RGD:10755536 , RGD:10755542 , RGD:10755541 , RGD:10755536
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Ireb2
iron responsive element binding protein 2
IEP
mRNA:decreased expression:cerebral cortex (rat)
RGD
PMID:19943190
RGD:6893272
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
G
Mapt
microtubule-associated protein tau
treatment
IDA
RGD
PMID:27403880
RGD:13800907
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
G
Slc11a2
solute carrier family 11 member 2
ISO
DNA:snp:exon:c.1285G>C (human)
RGD
PMID:15459009
RGD:1580431
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Slc40a1
solute carrier family 40 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17052926
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11110675
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
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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Ftl1
ferritin light chain 1
ISO
ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive
OMIM ClinVar
PMID:15173247 PMID:17182944 PMID:18414213 PMID:23940258 PMID:25741868 PMID:28492532 PMID:30678075 More...
NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
G
Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: L-ferritin deficiency
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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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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Tmprss6
transmembrane serine protease 6
ISO
ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia
OMIM ClinVar
PMID:18408718 PMID:18596229 PMID:19357398 PMID:19592582 PMID:19818657 PMID:20719010 PMID:23319530 PMID:25156943 PMID:25588876 PMID:25741868 PMID:25873000 PMID:27365303 PMID:27643674 PMID:28492532 PMID:32581362 More...
NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
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Aars2
alanyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar
PMID:32581362
NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090
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Atp13a2
ATPase cation transporting 13A2
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:16964263 PMID:21060012 PMID:21665991 PMID:21696388 PMID:22296644 PMID:22768177 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29966207 More...
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:25741868 PMID:29395073
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
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Pank2
pantothenate kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
CTD ClinVar
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16023068 PMID:16272150 PMID:16437574 PMID:16450344 PMID:20629144 PMID:22221393 PMID:22416811 PMID:23166001 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26547561 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 More...
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:19087156 PMID:19138334 PMID:19893029 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20886109 PMID:20947703 PMID:22213678 PMID:22934738 PMID:23685560 PMID:24033266 PMID:24108619 PMID:24130795 PMID:24628589 PMID:24745848 PMID:25164370 PMID:25326635 PMID:25326637 PMID:25558065 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26668131 PMID:26829737 PMID:27127721 PMID:27146152 PMID:27196560 PMID:27378808 PMID:28492532 PMID:28714225 PMID:29108286 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29915382 PMID:30340910 PMID:30619057 PMID:31496990 PMID:32183746 PMID:33550528 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar
PMID:32581362
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:29395073
NCBI chr 1:12,698,107...12,775,561
Ensembl chr 1:12,697,747...12,775,561
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD ClinVar
PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 PMID:25744623 PMID:28492532 PMID:28711740 More...
NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM ClinVar RGD
PMID:9536098 PMID:16783378 PMID:17033970 PMID:17576681 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:19893029 PMID:20186954 PMID:20226704 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:20947703 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22934738 PMID:23182313 PMID:23685560 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24130795 PMID:24628589 PMID:24745848 PMID:25164370 PMID:25174650 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25660576 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26633545 PMID:26668131 PMID:26829737 PMID:27081553 PMID:27127721 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27294386 PMID:27378808 PMID:27395053 PMID:27516098 PMID:27709683 PMID:27942883 PMID:28150298 PMID:28295203 PMID:28492532 PMID:28714225 PMID:28821231 PMID:29124790 PMID:29159939 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29913018 PMID:29915382 PMID:30042723 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:30619057 PMID:31493945 PMID:31506141 PMID:31516627 PMID:32404165 PMID:32860008 PMID:33361639 PMID:22934738 More...
RGD:12910703
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B
OMIM ClinVar
PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20301718 PMID:20619503 PMID:20669327 PMID:20886109 PMID:24745848 PMID:25164370 PMID:25326635 PMID:25741868 PMID:26196026 PMID:26668131 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27378808 PMID:27516098 PMID:28492532 PMID:29472584 PMID:29915382 PMID:30619057 PMID:32581362 PMID:32860008 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Ftl1
ferritin light chain 1
ISO
DNA:insertion:exon:460_461insA(human) ClinVar Annotator: match by term: Neuroferritinopathy DNA:mutations:exon: DNA:duplication:cds:458dupA(human)
ClinVar OMIM RGD
PMID:11438811 PMID:12746423 PMID:16116125 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:25741868 PMID:28492532 PMID:17142829 PMID:19117339 PMID:18854324 More...
RGD:5509859 , RGD:5509861 , RGD:5509860
NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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LOC690000
similar to CG3740-PA
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
OMIM ClinVar
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:25592411 PMID:25741868 PMID:26187298 PMID:26539891 PMID:27112773 PMID:28347615 PMID:28492532 PMID:28641177 PMID:29295770 PMID:29389947 PMID:30088953 PMID:30392167 PMID:31087512 PMID:32581362 More...
NCBI chr 1:90,873,542...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
G
Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Ebp
EBP, cholestenol delta-isomerase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
G
Eras
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Glod5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
G
Gpkow
G patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
G
Gripap1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
G
Hdac6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
G
Kcnd1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
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Magix
MAGI family member, X-linked
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
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Mir500
microRNA 500
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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Mir532
microRNA 532
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
G
Otud5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
G
Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
G
Pim2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
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Plp2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
G
Ppp1r3f
protein phosphatase 1, regulatory subunit 3F
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
G
Pqbp1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Praf2
PRA1 domain family, member 2
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
G
Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
G
Rbm3
RNA binding motif protein 3
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
G
Slc35a2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
G
Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,421,028...14,434,216
Ensembl chr X:14,421,109...14,433,982
G
Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:141,793,695...141,795,558
G
Syp
synaptophysin
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
G
Tfe3
transcription factor binding to IGHM enhancer 3
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
G
Timm17b
translocase of inner mitochondrial membrane 17b
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
G
Usp27x
ubiquitin specific peptidase 27, X-linked
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:15,123,642...15,126,855
Ensembl chr X:15,124,596...15,125,912
G
Was
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
PMID:28492532
NCBI chr X:14,362,479...14,373,727
Ensembl chr X:14,362,860...14,373,727
G
Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24896178 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:27681470 PMID:28166811 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29445477 PMID:29681108 PMID:29981852 PMID:30612247 PMID:30713893 PMID:31487502 PMID:32382396 PMID:34906502 More...
NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
G
Coasy
Coenzyme A synthase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
OMIM ClinVar
PMID:21264299 PMID:24360804 PMID:25741868 PMID:28357284 PMID:28489334 PMID:28492532 PMID:28688840 PMID:30089828 More...
NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841
G
Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 1:12,698,107...12,775,561
Ensembl chr 1:12,697,747...12,775,561
G
Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
G
Ireb2
iron responsive element binding protein 2
ISO
ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
OMIM ClinVar
PMID:25741868 PMID:30915432 PMID:31243445
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
G
Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:28492532 PMID:29879995 PMID:31036917 PMID:32357917
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Lztr1
leucine-zipper-like transcription 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:30784236 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:25741868
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
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Mir103a2
microRNA 103a-2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:25741868
NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301187 PMID:1734303 PMID:7898702 PMID:9536098 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12811783 PMID:14580665 PMID:14638969 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16157712 PMID:16199547 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:17576681 PMID:17903678 PMID:18006953 PMID:19224615 PMID:20193558 PMID:20497339 PMID:20551478 PMID:20603201 PMID:20629144 PMID:21198414 PMID:21459825 PMID:21480873 PMID:21877312 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22682757 PMID:23166001 PMID:23634310 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24348190 PMID:24712887 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26547561 PMID:26795593 PMID:26828213 PMID:27185474 PMID:28094106 PMID:28357202 PMID:28492532 PMID:28680084 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28881514 PMID:29590070 PMID:30363610 PMID:30681573 PMID:32581362 PMID:33098801 More...
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Snca
synuclein alpha
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Sncb
synuclein, beta
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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Sncg
synuclein, gamma
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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Alas2
5'-aminolevulinate synthase 2
onset
ISO
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R452H, R452C, K156E(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) DNA:mutations:exons:p.K299Q,A172T(human)
OMIM ClinVar CTD RGD
PMID:1570328 PMID:7560104 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:25741868 PMID:28492532 PMID:28840292 PMID:21252495 PMID:11110715 PMID:7560104 More...
RGD:11035244 , RGD:11035243 , RGD:11035241
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Apex2
apurinic/apyrimidinic endodeoxyribonuclease 2
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar
NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
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Slc25a38
solute carrier family 25, member 38
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
ClinVar
PMID:28492532
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Hemosiderosis, systemic, due to aceruloplasminemia
ClinVar
PMID:1458725 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 PMID:7708681 PMID:8641692 PMID:16199547 PMID:16629161 PMID:28492532 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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