|
G |
Anapc2 |
anaphase promoting complex subunit 2 |
|
ISO |
protein:decreased expression:bone marrow (human) |
RGD |
PMID:28968996 |
RGD:14696669 |
NCBI chrNW_004936669:797,475...808,952
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:decreased expression:serum (human) |
RGD |
PMID:22537155 |
RGD:11352267 |
NCBI chrNW_004936513:10,607,617...10,620,403
|
|
G |
Cd86 |
CD86 molecule |
|
ISO |
protein:increased expression:blood, dendritic cell (human) |
RGD |
PMID:21234821 |
RGD:11354968 |
NCBI chrNW_004936536:8,414,491...8,481,712
|
|
G |
Csf2 |
colony stimulating factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9885444 PMID:12221670 |
|
NCBI chrNW_004936647:3,081,896...3,083,864
|
|
G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 PMID:16553037 More...
|
|
NCBI chrNW_004936490:15,142,526...15,146,375
|
|
G |
Ddx41 |
DEAD-box helicase 41 |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
|
|
NCBI chrNW_004936597:1,787,830...1,793,352
|
|
G |
Dipk1a |
divergent protein kinase domain 1A |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936537:6,234,773...6,341,782
|
|
G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
DNA:missense mutations:exon:p.V105G, p.S121A (human) |
RGD |
PMID:26360549 |
RGD:11251733 |
NCBI chrNW_004936927:134,770...144,057
|
|
G |
Ephx1 |
epoxide hydrolase 1 |
disease_progression susceptibility |
ISO |
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:missense mutation:exon:p.H139R (human) |
RGD |
PMID:21228718 PMID:26999617 |
RGD:11252118 RGD:11252120 |
NCBI chrNW_004936526:2,589,254...2,652,831
|
|
G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:CD34+ bone marrow cell protein:decreased expression:plasma: |
RGD |
PMID:7577642 PMID:11876982 |
RGD:11049159 RGD:11049449 |
NCBI chrNW_004936735:209,369...234,582
|
|
G |
Flt3lg |
fms related receptor tyrosine kinase 3 ligand |
|
ISO |
protein:increased expression:serum,plasma: |
RGD |
PMID:7492765 |
RGD:11049505 |
NCBI chrNW_004936664:3,343,541...3,351,590
|
|
G |
Gata2 |
GATA binding protein 2 |
|
ISO |
mRNA:decreased expression:CD34+ cell |
RGD |
PMID:11328281 |
RGD:11049519 |
NCBI chrNW_004936798:406,258...414,785
|
|
G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
mRNA:decreased expression:bone marrow cell: |
RGD |
PMID:17156408 |
RGD:11040507 |
NCBI chrNW_004936487:19,414,135...19,417,465
|
|
G |
Ifng |
interferon gamma |
treatment susceptibility |
ISO |
ClinVar Annotator: match by term: Aplastic anemia DNA:repeats,haplotype:intron: -2,353 A>T(human) DNA:polymorphism: : 874A>T(human) DNA:repeats:intron: |
OMIM ClinVar RGD |
PMID:15327519 PMID:18426658 PMID:20953611 |
RGD:10755688 RGD:10755690 RGD:10755710 |
NCBI chrNW_004936545:6,139,130...6,144,543
|
|
G |
Kit |
KIT proto-oncogene, receptor tyrosine kinase |
severity |
ISO |
|
RGD |
PMID:7694680 |
RGD:12910751 |
NCBI chrNW_004936482:17,162,854...17,238,319
|
|
G |
Nbn |
nibrin |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia |
OMIM ClinVar |
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19813148 PMID:19908051 PMID:21212067 PMID:21698754 PMID:22131123 PMID:22373003 PMID:23317186 PMID:23555315 PMID:24093751 PMID:24113799 PMID:24728327 PMID:24830725 PMID:25619955 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26722329 PMID:26976419 PMID:27109316 PMID:27153395 PMID:27443514 PMID:27616075 PMID:27621404 PMID:28076423 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28591191 PMID:29335925 PMID:29522266 PMID:29596542 PMID:29678143 PMID:29785153 PMID:30287823 PMID:30441849 PMID:30590007 PMID:30651582 PMID:31159747 PMID:31206626 PMID:31278556 PMID:31422574 PMID:32566746 More...
|
|
NCBI chrNW_004936544:3,773,828...3,812,673
|
|
G |
Prf1 |
perforin 1 |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia |
OMIM ClinVar |
PMID:11179007 PMID:11756153 PMID:14757862 PMID:15755897 PMID:16278825 PMID:16374518 PMID:17266056 PMID:17311987 PMID:17873118 PMID:18190960 PMID:18710388 PMID:19487666 PMID:21881043 PMID:21959744 PMID:23073290 PMID:23264592 PMID:23592409 PMID:24744671 PMID:24916509 PMID:25741868 PMID:26184781 PMID:27577878 PMID:28492532 PMID:29665027 More...
|
|
NCBI chrNW_004936521:8,057,874...8,060,695
|
|
G |
Rpl5 |
ribosomal protein L5 |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936537:6,341,961...6,344,831
|
|
G |
Sbds |
SBDS ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia, susceptibility to |
OMIM ClinVar |
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:32581362 More...
|
|
NCBI chrNW_004936543:7,324,748...7,329,774
|
|
G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
PMID:2602487 PMID:15814878 PMID:15885610 PMID:16627250 PMID:17460043 PMID:18042801 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21635204 PMID:22476886 PMID:23538340 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26365799 PMID:28154186 PMID:28492532 PMID:28495692 PMID:28677271 PMID:28813500 More...
|
|
NCBI chrNW_004936815:468,987...492,666
|
|
G |
Tgfb1 |
transforming growth factor beta 1 |
severity susceptibility |
ISO |
protein:decreased expression: : DNA:polymorphism: :509C>T(human) |
RGD |
PMID:24028718 PMID:24362456 |
RGD:11073601 RGD:11073606 |
NCBI chrNW_004936661:3,742,080...3,758,266
|
|
G |
Thpo |
thrombopoietin |
no_association |
ISO |
DNA:SNPs:exons: DNA:mutation:cds:c.112C>T(human) |
RGD |
PMID:22686250 PMID:24085763 |
RGD:11073679 RGD:11073680 |
NCBI chrNW_004936578:5,508,669...5,515,984
|
|
G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
|
ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
|
|
NCBI chrNW_004936722:320,171...323,703
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:12941546 |
RGD:10449452 |
NCBI chrNW_004936727:1,936,066...1,937,766
|
|
|
G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
|
ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 4 |
OMIM ClinVar |
PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 |
|
NCBI chrNW_004936531:7,702,186...7,716,428
|
|
|
G |
Slc25a38 |
solute carrier family 25 member 38 |
|
ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive |
OMIM ClinVar |
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 More...
|
|
NCBI chrNW_004936473:28,602,920...28,621,024
|
|
|
G |
Arsa |
arylsulfatase A |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936629:187,281...205,493
|
|
|
G |
Srp72 |
signal recognition particle 72 |
|
ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 |
OMIM ClinVar |
PMID:22541560 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936482:18,687,088...18,721,734
|
|
|
G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
|
NCBI chrNW_004936493:5,308,268...5,332,934
|
|
G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital hypoplastic anemia |
ClinVar |
PMID:15895080 PMID:16783379 PMID:20301538 PMID:22706301 PMID:24453067 PMID:24766296 PMID:24952648 PMID:28492532 More...
|
|
NCBI chrNW_004936721:742,862...750,843
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Congenital hypoplastic anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:568,443...575,973
|
|
G |
Umps |
uridine monophosphate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
|
NCBI chrNW_004936725:553,278...564,846
|
|
|
G |
Rps26 |
ribosomal protein S26 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:17483715 PMID:19816270 PMID:24942156 PMID:28492532 |
|
NCBI chrNW_004936646:452,371...454,787
|
|
G |
Rps28 |
ribosomal protein S28 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:24942156 PMID:25741868 |
|
NCBI chrNW_004936588:5,154,614...5,155,522
|
|
G |
Tsr2 |
TSR2 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:11424144 PMID:24942156 |
|
NCBI chrNW_004936751:1,350,542...1,355,449
|
|
|
G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,310,556...1,321,974
|
|
G |
Alox15b |
arachidonate 15-lipoxygenase type B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,279,944...1,288,321
|
|
G |
Aloxe3 |
arachidonate lipoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,329,492...1,350,914
|
|
G |
Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
|
NCBI chrNW_004936595:1,531,694...1,545,206
|
|
G |
Aurkb |
aurora kinase B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,435,601...1,437,423
|
|
G |
Borcs6 |
BLOC-1 related complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,417,718...1,420,480
|
|
G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,131,198...1,154,615
|
|
G |
Cntrob |
centrobin, centriole duplication and spindle assembly protein |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,174,559...1,191,171
|
|
G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
|
NCBI chrNW_004936595:1,456,911...1,476,331
|
|
G |
Dipk1a |
divergent protein kinase domain 1A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936537:6,234,773...6,341,782
|
|
G |
Dnah2 |
dynein axonemal heavy chain 2 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:970,004...1,076,582
|
|
G |
Efnb3 |
ephrin B3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:954,383...960,573
|
|
G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:871527 PMID:8628290 PMID:11566888 PMID:12200364 PMID:15070711 PMID:15895080 PMID:15920471 PMID:16095949 PMID:16199547 PMID:16783379 PMID:17209061 PMID:17881640 PMID:20301538 PMID:22706301 PMID:23704091 PMID:24255919 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25741868 PMID:27993330 PMID:28492532 More...
|
|
NCBI chrNW_004936721:742,862...750,843
|
|
G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936721:719,660...731,800
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,235,747...1,250,294
|
|
G |
Heatr3 |
HEAT repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
|
|
NCBI chrNW_004936475:3,189,008...3,222,242
|
|
G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,352,621...1,355,177
|
|
G |
Kcnab3 |
potassium voltage-gated channel subfamily A regulatory beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,164,609...1,172,964
|
|
G |
Kdm6b |
lysine demethylase 6B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,077,318...1,099,082
|
|
G |
Klf1 |
Kruppel like factor 1 |
|
ISO |
mRNA:decreased expression:bone marrow, blood |
RGD |
PMID:22965552 |
RGD:10769343 |
NCBI chrNW_004936659:1,946,614...1,950,003
|
|
G |
LOC101959443 |
cytochrome b5 domain-containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,102,009...1,103,965
|
|
G |
LOC101969021 |
somatotropin |
treatment |
ISO |
|
RGD |
PMID:25492299 |
RGD:11352737 |
NCBI chrNW_004936541:4,524,397...4,528,234
|
|
G |
Naa38 |
N-alpha-acetyltransferase 38, NatC auxiliary subunit |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,100,774...1,101,909
|
|
G |
Odf4 |
outer dense fiber of sperm tails 4 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
|
NCBI chrNW_004936595:1,560,859...1,568,037
|
|
G |
Per1 |
period circadian regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,366,883...1,382,138
|
|
G |
Pfas |
phosphoribosylformylglycinamidine synthase |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
|
NCBI chrNW_004936595:1,483,688...1,499,716
|
|
G |
Polr3a |
RNA polymerase III subunit A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
|
NCBI chrNW_004936521:1,570,863...1,613,410
|
|
G |
Rangrf |
RAN guanine nucleotide release factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
|
NCBI chrNW_004936595:1,513,855...1,515,300
|
|
G |
Rnf227 |
ring finger protein 227 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,155,936...1,158,022
|
|
G |
Rpl11 |
ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936474:8,855,782...8,858,287
|
|
G |
Rpl26 |
ribosomal protein L26 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936595:1,603,913...1,609,125
|
|
G |
Rpl5 |
ribosomal protein L5 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:22689679 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936537:6,341,961...6,344,831
|
|
G |
Rps10 |
ribosomal protein S10 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936476:24,645,235...24,650,940
|
|
G |
Rps17 |
ribosomal protein S17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17647292 |
|
NCBI chrNW_004936483:17,211,129...17,214,509
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17576681 PMID:17726054 PMID:18412286 PMID:20378560 PMID:20606162 PMID:20960466 PMID:22045982 PMID:22262766 PMID:23349008 PMID:24033266 PMID:24952648 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936706:568,443...575,973
|
|
G |
Rps24 |
ribosomal protein S24 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28492532 More...
|
|
NCBI chrNW_004936521:1,562,013...1,568,280
|
|
G |
Rps7 |
ribosomal protein S7 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936532:1,734,993...1,740,202
|
|
G |
Slc25a35 |
solute carrier family 25 member 35 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
|
NCBI chrNW_004936595:1,515,279...1,519,466
|
|
G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936721:646,778...661,144
|
|
G |
Tmem107 |
transmembrane protein 107 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,404,017...1,406,756
|
|
G |
Tmem88 |
transmembrane protein 88 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,099,126...1,100,226
|
|
G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 |
|
NCBI chrNW_004936595:919,807...935,367
|
|
G |
Trappc1 |
trafficking protein particle complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,172,957...1,174,517
|
|
G |
Vamp2 |
vesicle associated membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:1,385,692...1,389,484
|
|
G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936721:634,685...641,248
|
|
G |
Wrap53 |
WD repeat containing antisense to TP53 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
|
NCBI chrNW_004936595:936,184...952,784
|
|
|
G |
Dipk1a |
divergent protein kinase domain 1A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936537:6,234,773...6,341,782
|
|
G |
Heatr3 |
HEAT repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936475:3,189,008...3,222,242
|
|
G |
Rpl5 |
ribosomal protein L5 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936537:6,341,961...6,344,831
|
|
G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
OMIM ClinVar |
PMID:9988267 PMID:10590074 PMID:10598818 PMID:12586610 PMID:17517689 PMID:23812780 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936706:568,443...575,973
|
|
|
G |
Ikzf4 |
IKAROS family zinc finger 4 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
ClinVar |
PMID:23812780 |
|
NCBI chrNW_004936646:417,565...449,021
|
|
G |
Rps26 |
ribosomal protein S26 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 PMID:21414820 PMID:23718193 PMID:23812780 PMID:24942156 PMID:25741868 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 More...
|
|
NCBI chrNW_004936646:452,371...454,787
|
|
|
G |
Rpl26 |
ribosomal protein L26 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 |
OMIM ClinVar |
PMID:22431104 |
|
NCBI chrNW_004936595:1,603,913...1,609,125
|
|
|
G |
Nkiras1 |
NFKB inhibitor interacting Ras like 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 |
ClinVar |
PMID:23812780 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936473:15,559,243...15,571,780
|
|
G |
Rpl15 |
ribosomal protein L15 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 |
OMIM ClinVar |
PMID:23812780 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936473:15,571,897...15,575,812
|
|
|
G |
Rps29 |
ribosomal protein S29 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 |
OMIM ClinVar |
PMID:24829207 PMID:25741868 |
|
NCBI chrNW_004936583:426,476...428,008
|
|
|
G |
Tsr2 |
TSR2 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936751:1,350,542...1,355,449
|
|
|
G |
Rpl27 |
ribosomal protein L27 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 |
OMIM ClinVar |
PMID:25424902 PMID:25741868 |
|
NCBI chrNW_004936490:17,696,911...17,699,844
|
|
|
G |
Rps27 |
ribosomal protein S27 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 |
OMIM ClinVar |
PMID:25424902 PMID:25741868 |
|
NCBI chrNW_004936580:3,740,088...3,741,343
|
|
|
G |
Rpl18 |
ribosomal protein L18 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 |
OMIM ClinVar |
PMID:28280134 |
|
NCBI chrNW_004936664:2,665,084...2,668,706
|
|
|
G |
Rpl35 |
ribosomal protein L35 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 |
OMIM ClinVar |
PMID:28280134 |
|
NCBI chrNW_004936487:13,056,243...13,060,900
|
|
|
G |
Rps15a |
ribosomal protein S15a |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 |
OMIM ClinVar |
PMID:27909223 |
|
NCBI chrNW_004936501:4,650,832...4,656,223
|
|
|
G |
Polr3a |
RNA polymerase III subunit A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936521:1,570,863...1,613,410
|
|
G |
Rps24 |
ribosomal protein S24 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 |
OMIM ClinVar |
PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 PMID:28492532 PMID:30228860 More...
|
|
NCBI chrNW_004936521:1,562,013...1,568,280
|
|
|
G |
Rps17 |
ribosomal protein S17 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 |
OMIM ClinVar |
PMID:17647292 PMID:23718193 PMID:23812780 |
|
NCBI chrNW_004936483:17,211,129...17,214,509
|
|
|
G |
Iqcg |
IQ motif containing G |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 |
ClinVar |
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28166811 PMID:28492532 More...
|
|
NCBI chrNW_004936784:172,190...217,234
|
|
G |
Rpl35a |
ribosomal protein L35a |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 |
OMIM ClinVar |
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28166811 PMID:28492532 More...
|
|
NCBI chrNW_004936784:167,623...171,962
|
|
|
G |
Dipk1a |
divergent protein kinase domain 1A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 |
ClinVar |
PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936537:6,234,773...6,341,782
|
|
G |
Rpl5 |
ribosomal protein L5 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 |
OMIM ClinVar |
PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936537:6,341,961...6,344,831
|
|
|
G |
Rpl11 |
ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 |
OMIM ClinVar |
PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936474:8,855,782...8,858,287
|
|
|
G |
Rps7 |
ribosomal protein S7 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 PMID:25741868 PMID:27882484 PMID:28102861 PMID:28492532 More...
|
|
NCBI chrNW_004936532:1,734,993...1,740,202
|
|
|
G |
Rps10 |
ribosomal protein S10 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 |
OMIM ClinVar |
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936476:24,645,235...24,650,940
|
|
|
G |
Epo |
erythropoietin |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like |
OMIM ClinVar |
PMID:28283061 |
|
NCBI chrNW_004936543:742,722...745,332
|
|
G |
Ikzf1 |
IKAROS family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like |
ClinVar |
|
|
NCBI chrNW_004936686:1,459,582...1,556,478
|
|
|
G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,735,206...1,778,100
|
|
G |
Adcy9 |
adenylate cyclase 9 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:336,269...449,490
|
|
G |
Alg1 |
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,948,130...4,957,306
|
|
G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,698,234...4,723,131
|
|
G |
Aopep |
aminopeptidase O (putative) |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia |
ClinVar |
PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8703809 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:9521584 PMID:9536098 PMID:09616183 PMID:11050007 PMID:12093742 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17703323 PMID:17924555 PMID:19557015 PMID:20301575 PMID:20509860 PMID:20869034 PMID:21520333 PMID:21659346 PMID:22382802 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26466335 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:26990548 PMID:27153395 PMID:27577878 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28717661 PMID:28767289 PMID:29654263 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30322717 PMID:30630526 PMID:30967997 PMID:31589614 PMID:31721781 PMID:31874108 PMID:32496904 PMID:32566746 PMID:32659497 PMID:32923857 PMID:33050356 PMID:33471991 More...
|
|
NCBI chrNW_004936626:3,704,474...3,973,913
|
|
G |
Arhgdig |
Rho GDP dissociation inhibitor gamma |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:637,150...640,984
|
|
G |
Atp6v0c |
ATPase H+ transporting V0 subunit c |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,536,393...1,542,218
|
|
G |
Axin1 |
axin 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:599,963...633,837
|
|
G |
Baiap3 |
BAI1 associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,542,521...2,556,540
|
|
G |
Bicdl2 |
BICD family like cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,136,862...1,144,045
|
|
G |
Brca2 |
BRCA2 DNA repair associated |
susceptibility |
ISO |
DNA:mutation ClinVar Annotator: match by term: Fanconi anemia |
RGD ClinVar |
PMID:11030417 PMID:11185744 PMID:12065746 PMID:12491487 PMID:12955716 PMID:12960223 PMID:14670928 PMID:15026808 PMID:15070707 PMID:15635067 PMID:15645491 PMID:15876480 PMID:16825431 PMID:17924331 PMID:17972177 PMID:18284688 PMID:18431501 PMID:18627636 PMID:18779604 PMID:19043619 PMID:20104584 PMID:20127978 PMID:20927582 PMID:21120943 PMID:21218378 PMID:21523855 PMID:21548014 PMID:21702907 PMID:21719596 PMID:21990134 PMID:22009639 PMID:22034289 PMID:22126563 PMID:22228431 PMID:22293751 PMID:22486713 PMID:22874498 PMID:23555315 PMID:23704879 PMID:23893897 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24728327 PMID:25085752 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26689913 PMID:26834852 PMID:26920070 PMID:27376475 PMID:28222693 PMID:28492532 PMID:28831036 PMID:29310832 PMID:29394989 PMID:29446198 PMID:29470806 PMID:29753700 PMID:29884841 PMID:30254663 PMID:31131967 More...
|
RGD:734658 |
NCBI chrNW_004936472:26,945,659...27,017,693
|
|
G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,836,566...1,838,950
|
|
G |
Brip1 |
BRCA1 interacting helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
ClinVar |
PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 PMID:32359370 PMID:33471991 More...
|
|
NCBI chrNW_004936490:3,001,445...3,139,538
|
|
G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:17436244 PMID:28492532 |
|
NCBI chrNW_004936602:3,147,773...3,155,739
|
|
G |
C1qtnf8 |
C1q and TNF related 8 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:53,208...54,391
|
|
G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,702,224...2,724,574
|
|
G |
Capn15 |
calpain 15 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:444,100...458,461
|
|
G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,856,529...1,868,107
|
|
G |
Ccdc154 |
coiled-coil domain containing 154 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,468,281...2,475,901
|
|
G |
Ccdc78 |
coiled-coil domain containing 78 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:289,765...294,272
|
|
G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,596,897...1,620,588
|
|
G |
Cdip1 |
cell death inducing p53 target 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,559,062...4,578,896
|
|
G |
Chtf18 |
chromosome transmission fidelity factor 18 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:232,387...240,866
|
|
G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:277,525...286,929
|
|
G |
Clcn7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,444,321...2,467,734
|
|
G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,153,189...1,154,012
|
|
G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,155,252...1,156,007
|
|
G |
Cluap1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:779,399...810,534
|
|
G |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:96,107...152,075
|
|
G |
Cramp1 |
cramped chromatin regulator homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,284,315...2,341,033
|
|
G |
CUNH16orf89 |
chromosome unknown C16orf89 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,936,034...4,948,076
|
|
G |
CUNH16orf90 |
chromosome unknown C16orf90 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:810,164...815,392
|
|
G |
CUNH16orf91 |
chromosome unknown C16orf91 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,484,092...2,485,012
|
|
G |
CUNH16orf96 |
chromosome unknown C16orf96 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,599,136...4,637,123
|
|
G |
Decr2 |
2,4-dienoyl-CoA reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:542,365...553,541
|
|
G |
Dnaaf8 |
dynein axonemal assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,725,294...4,738,515
|
|
G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:43,898...74,939
|
|
G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:704,948...715,846
|
|
G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,808,184...1,810,735
|
|
G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,811,131...1,829,193
|
|
G |
Eci1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,794,673...1,807,306
|
|
G |
Eef2kmt |
eukaryotic elongation factor 2 lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,957,445...4,984,816
|
|
G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,296,304...1,301,183
|
|
G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,217,352...2,220,556
|
|
G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,179,730...2,181,296
|
|
G |
Fam234a |
family with sequence similarity 234 member A |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:648,859...679,012
|
|
G |
Fanca |
FA complementation group A |
disease_progression |
ISO |
DNA:deletion ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
RGD ClinVar |
PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:9721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11110674 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16015582 PMID:16084127 PMID:16116422 PMID:16199547 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:19423727 PMID:19763152 PMID:20301575 PMID:20307669 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 PMID:21659346 PMID:22178060 PMID:22406018 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24349332 PMID:24584348 PMID:24689079 PMID:24704046 PMID:24728327 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25640679 PMID:25703136 PMID:25741868 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27577878 PMID:27701467 PMID:28102861 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28973083 PMID:29093742 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29621589 PMID:29625052 PMID:29797310 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30057198 PMID:30086788 PMID:30792206 PMID:31192125 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31721781 PMID:32098966 PMID:33172906 PMID:33224012 PMID:33686268 PMID:33718801 PMID:34008892 PMID:34906502 More...
|
RGD:11344914 |
NCBI chrNW_004936641:281,119...319,796
|
|
G |
Fancb |
FA complementation group B |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia |
ClinVar |
PMID:9536098 PMID:15502827 PMID:17576681 PMID:23613520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32410215 More...
|
|
NCBI chrNW_004936470:4,305,220...4,323,456
|
|
G |
Fancc |
FA complementation group C |
onset |
ISO |
DNA:deletion: :322delG (human) ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
RGD ClinVar |
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 PMID:08103176 PMID:08128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8799375 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:09452030 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10666230 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19622403 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22701786 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25640679 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28873162 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29643063 PMID:29654263 PMID:29719599 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30306255 PMID:30322717 PMID:30630526 PMID:30676620 PMID:30967997 PMID:31300551 PMID:31558676 PMID:31589614 PMID:31721781 PMID:31874108 PMID:32427313 PMID:32496904 PMID:32566746 PMID:32659497 PMID:32923857 PMID:33050356 PMID:33083949 PMID:33471991 More...
|
RGD:11344914 |
NCBI chrNW_004936626:3,980,311...4,147,042
|
|
G |
Fancd2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:21356188 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25927356 PMID:26633542 PMID:27041517 PMID:28492532 PMID:29625052 PMID:29659569 PMID:30250602 PMID:30713837 PMID:31586946 PMID:33558524 More...
|
|
NCBI chrNW_004936602:3,162,177...3,220,468
|
|
G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:23285130 PMID:24728327 PMID:25741868 PMID:25927356 PMID:28492532 PMID:30250602 PMID:31586946 More...
|
|
NCBI chrNW_004936602:3,160,505...3,161,374
|
|
G |
Fance |
FA complementation group E |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936476:23,783,161...23,794,646
|
|
G |
Fancf |
FA complementation group F |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9382107 PMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 PMID:18271933 PMID:24728327 PMID:25741868 PMID:27714961 PMID:28492532 PMID:30256826 PMID:30262796 PMID:30995915 PMID:31882575 More...
|
|
NCBI chrNW_004936654:3,298,193...3,301,251
|
|
G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9536098 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16643430 PMID:17576681 PMID:17924555 PMID:20301575 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24584348 PMID:24728327 PMID:24763404 PMID:24989076 PMID:25703136 PMID:25741868 PMID:26689913 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28717661 PMID:30031030 More...
|
|
NCBI chrNW_004936524:3,103,912...3,110,246
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
ClinVar |
PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:19737859 PMID:19763152 PMID:20307669 PMID:20691285 PMID:20971953 PMID:21038416 PMID:21228398 PMID:22406018 PMID:22720145 PMID:23613520 PMID:23783014 PMID:24033266 PMID:24989076 PMID:25462018 PMID:25741868 PMID:25927356 PMID:26104464 PMID:26296701 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 PMID:28878254 PMID:30076350 PMID:30303537 PMID:30773290 PMID:31470354 More...
|
|
NCBI chrNW_004936483:15,096,215...15,179,856
|
|
G |
Fancl |
FA complementation group L |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26822237 PMID:26822949 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28492532 PMID:29335925 PMID:29478780 PMID:29625052 PMID:30995915 PMID:31300551 PMID:31513304 PMID:32789750 PMID:34008892 More...
|
|
NCBI chrNW_004936491:4,057,312...4,119,966
|
|
G |
Fancm |
FA complementation group M |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
ClinVar |
PMID:2867840 PMID:9536098 PMID:16199547 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 PMID:19379763 PMID:19737859 PMID:19763152 PMID:20307669 PMID:21681190 PMID:22406018 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25640679 PMID:25741868 PMID:26067930 PMID:26094658 PMID:26130695 PMID:26296701 PMID:26467025 PMID:26483394 PMID:26689913 PMID:26740942 PMID:26822949 PMID:27913932 PMID:28033443 PMID:28492532 PMID:28678401 PMID:28702895 PMID:28715532 PMID:28717660 PMID:28837157 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29625052 PMID:29895858 PMID:30075111 PMID:30426508 PMID:30613976 PMID:30676620 PMID:30995915 PMID:31700994 PMID:31991861 PMID:32566746 More...
|
|
NCBI chrNW_004936583:4,085,802...4,145,621
|
|
G |
Fbxl16 |
F-box and leucine rich repeat protein 16 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:308,682...320,774
|
|
G |
Flt3lg |
fms related receptor tyrosine kinase 3 ligand |
|
ISO |
protein:increased expression:serum,plasma: |
RGD |
PMID:7492765 |
RGD:11049505 |
NCBI chrNW_004936664:3,343,541...3,351,590
|
|
G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,212,517...1,236,576
|
|
G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,241,550...1,251,555
|
|
G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,051,362...2,053,812
|
|
G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:161,419...168,012
|
|
G |
Glyr1 |
glyoxylate reductase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,761,838...4,794,191
|
|
G |
Gng13 |
G protein subunit gamma 13 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:230,439...232,426
|
|
G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,529,634...2,540,474
|
|
G |
Hagh |
hydroxyacylglutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,181,475...2,200,469
|
|
G |
Haghl |
hydroxyacylglutathione hydrolase like |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:286,958...290,062
|
|
G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,147,364...1,148,954
|
|
G |
Hmox2 |
heme oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,556,617...4,558,250
|
|
G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
|
|
G |
Ifng |
interferon gamma |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:24021704 |
RGD:11049161 |
NCBI chrNW_004936545:6,139,130...6,144,543
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,344,448...2,419,396
|
|
G |
Igfals |
insulin like growth factor binding protein acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,205,294...2,207,343
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:24021704 |
RGD:11049161 |
NCBI chrNW_004936557:5,834,874...5,838,502
|
|
G |
Jmjd8 |
jumonji domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:327,053...328,789
|
|
G |
Jpt2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,265,360...2,283,887
|
|
G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,418,638...1,444,609
|
|
G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,201,008...1,205,593
|
|
G |
Lmf1 |
lipase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:138,470...200,120
|
|
G |
LOC101957668 |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:552,447...663,237
|
|
G |
LOC101963077 |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,834,016...1,836,359
|
|
G |
LOC101972576 |
valosin containing protein |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936524:3,085,959...3,102,461
|
|
G |
LOC101977328 |
olfactory receptor 15 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:901,542...905,354
|
|
G |
Luc7l |
LUC7 like |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:687,352...722,720
|
|
G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,223,020...2,263,388
|
|
G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9721219 PMID:28492532 PMID:29098742 |
|
NCBI chrNW_004936641:193,885...198,730
|
|
G |
Mcrip2 |
MAPK regulated corepressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:360,671...365,512
|
|
G |
Mefv |
MEFV innate immuity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:970,706...980,605
|
|
G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,099,967...2,176,279
|
|
G |
Metrn |
meteorin, glial cell differentiation regulator |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:295,970...301,344
|
|
G |
Mettl26 |
methyltransferase like 26 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:368,532...371,075
|
|
G |
Mgrn1 |
mahogunin ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,647,550...4,693,143
|
|
G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,839,135...1,849,307
|
|
G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,118,432...1,128,315
|
|
G |
Mrpl28 |
mitochondrial ribosomal protein L28 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:580,863...583,540
|
|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,220,492...2,221,716
|
|
G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,086,573...2,090,752
|
|
G |
Naa60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:818,386...838,258
|
|
G |
Nagpa |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,918,774...4,929,064
|
|
G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,073,481...2,075,989
|
|
G |
Nhlrc4 |
NHL repeat containing 4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:430,023...433,632
|
|
G |
Nlrc3 |
NLR family CARD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:757,121...773,924
|
|
G |
Nme3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,222,055...2,222,977
|
|
G |
Nme4 |
NME/NM23 nucleoside diphosphate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:553,931...557,744
|
|
G |
Nmral1 |
NmrA like redox sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:33,738...40,716
|
|
G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,054,429...2,060,098
|
|
G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,017,040...2,019,583
|
|
G |
Nthl1 |
nth like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,993,443...2,000,323
|
|
G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,581,322...1,585,893
|
|
G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2, cytosolic |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,208,102...2,211,910
|
|
G |
Palb2 |
partner and localizer of BRCA2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:17200668 PMID:18302019 PMID:24136930 PMID:25099575 PMID:25741868 PMID:26467025 PMID:26564480 PMID:28492532 More...
|
|
NCBI chrNW_004936501:8,246,927...8,273,258
|
|
G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:153,958...161,635
|
|
G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,196,650...1,200,067
|
|
G |
Pdia2 |
protein disulfide isomerase family A member 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:634,034...637,177
|
|
G |
Pdpk1 |
3-phosphoinositide dependent protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,444,819...1,487,628
|
|
G |
Pgap6 |
post-GPI attachment to proteins 6 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:564,963...580,617
|
|
G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis class Q |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:415,232...429,902
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,923,383...1,958,160
|
|
G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,191,534...1,196,532
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
ClinVar |
PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 PMID:28678401 More...
|
|
NCBI chrNW_004936483:15,178,947...15,196,277
|
|
G |
Ppl |
periplakin |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,826,271...4,866,093
|
|
G |
Prf1 |
perforin 1 |
|
ISO |
|
RGD |
PMID:21542827 |
RGD:6482802 |
NCBI chrNW_004936521:8,057,874...8,060,695
|
|
G |
Prr35 |
proline rich 35 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:433,726...439,882
|
|
G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,381,624...1,385,973
|
|
G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,408,379...1,415,137
|
|
G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,305,167...1,307,695
|
|
G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,313,785...1,314,690
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 |
|
NCBI chrNW_004936626:4,241,993...4,301,919
|
|
G |
Ptx4 |
pentraxin 4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,435,291...2,439,837
|
|
G |
Rab11fip3 |
RAB11 family interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:470,307...535,958
|
|
G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,896,360...1,902,272
|
|
G |
Rab40c |
RAB40C, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:375,663...409,243
|
|
G |
Rad51c |
RAD51 paralog C |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22167183 PMID:22370629 PMID:22451500 PMID:22476429 PMID:22725699 PMID:23117857 PMID:24082139 PMID:24504028 PMID:25086635 PMID:25470109 PMID:25741868 PMID:26057125 PMID:26261251 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26740214 PMID:27153395 PMID:28492532 More...
|
|
NCBI chrNW_004936490:4,440,638...4,473,301
|
|
G |
Rgs11 |
regulator of G protein signaling 11 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:641,339...647,833
|
|
G |
Rhbdl1 |
rhomboid like 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:332,838...335,057
|
|
G |
Rhot2 |
ras homolog family member T2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:336,506...341,671
|
|
G |
Rnf151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,066,869...2,069,537
|
|
G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,784,396...1,794,269
|
|
G |
Rogdi |
rogdi atypical leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,756,069...4,761,484
|
|
G |
Rpl3l |
ribosomal protein L3 like |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,078,903...2,086,333
|
|
G |
Rps2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,071,295...2,073,409
|
|
G |
Rpusd1 |
RNA pseudouridine synthase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:241,190...244,180
|
|
G |
Sec14l5 |
SEC14 like lipid binding 5 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,879,822...4,915,926
|
|
G |
Septin12 |
septin 12 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,744,772...4,750,495
|
|
G |
Slc9a3r2 |
SLC9A3 regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,000,977...2,006,102
|
|
G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26201965 PMID:26824983 PMID:27153395 PMID:27913932 PMID:28202063 PMID:28492532 PMID:28678401 PMID:29607586 PMID:29868112 PMID:29915322 PMID:30306255 PMID:30613976 PMID:31300551 PMID:32368696 PMID:33270637 More...
|
|
NCBI chrNW_004936694:720,585...744,477
|
|
G |
Smim22 |
small integral membrane protein 22 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,754,946...4,755,830
|
|
G |
Sox8 |
SRY-box transcription factor 8 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:128,386...132,648
|
|
G |
Spire2 |
spire type actin nucleation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9721219 PMID:25741868 PMID:28492532 PMID:29098742 |
|
NCBI chrNW_004936641:236,135...246,004
|
|
G |
Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,212,022...2,217,409
|
|
G |
Srl |
sarcalumenin |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:224,023...275,069
|
|
G |
Srrm2 |
serine/arginine repetitive matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,280,104...1,296,301
|
|
G |
Sstr5 |
somatostatin receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:60,812...63,149
|
|
G |
Stub1 |
STIP1 homology and U-box containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:328,767...330,963
|
|
G |
Syngr3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,043,646...2,047,897
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,556,717...1,582,019
|
|
G |
Tbl3 |
transducin beta like 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,060,218...2,066,525
|
|
G |
Tcf25 |
transcription factor 25 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9721219 PMID:28492532 PMID:29098742 |
|
NCBI chrNW_004936641:202,522...232,962
|
|
G |
Tedc2 |
tubulin epsilon and delta complex 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,591,392...1,595,693
|
|
G |
Telo2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,418,223...2,433,630
|
|
G |
Tfap4 |
transcription factor AP-4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:210,863...222,531
|
|
G |
Thoc6 |
THO complex 6 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,144,122...1,147,345
|
|
G |
Tigd7 |
tigger transposable element derived 7 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:938,233...943,347
|
|
G |
Tmem204 |
transmembrane protein 204 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,382,672...2,402,798
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8438880 PMID:22628295 PMID:24021704 |
RGD:10450524 RGD:11049161 |
NCBI chrNW_004936727:1,936,066...1,937,766
|
|
G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,149,169...1,151,098
|
|
G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,868,309...1,886,772
|
|
G |
Trap1 |
TNF receptor associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:667,687...704,994
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,958,152...1,993,373
|
|
G |
Tsr3 |
TSR3 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,540,446...2,542,666
|
|
G |
Ubald1 |
UBA like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,641,859...4,647,264
|
|
G |
Ube2i |
ubiquitin conjugating enzyme E2 I |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,561,701...2,571,284
|
|
G |
Ubn1 |
ubinuclein 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936530:4,795,974...4,826,217
|
|
G |
Unkl |
unk like zinc finger |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,492,102...2,529,662
|
|
G |
Vasn |
vasorin |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:128,398...138,954
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:17436244 PMID:28492532 |
|
NCBI chrNW_004936602:3,135,790...3,140,622
|
|
G |
Vrk2 |
VRK serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28492532 More...
|
|
NCBI chrNW_004936491:3,956,171...4,057,753
|
|
G |
Wdr24 |
WD repeat domain 24 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:321,877...326,984
|
|
G |
Wdr90 |
WD repeat domain 90 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:342,376...359,853
|
|
G |
Wfikkn1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936501:371,328...375,271
|
|
G |
Zg16b |
zymogen granule protein 16B |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
|
|
G |
Znf174 |
zinc finger protein 174 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:870,271...881,273
|
|
G |
Znf200 |
zinc finger protein 200 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:988,300...998,829
|
|
G |
Znf205 |
zinc finger protein 205 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,072,633...1,084,923
|
|
G |
Znf213 |
zinc finger protein 213 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,054,433...1,060,659
|
|
G |
Znf263 |
zinc finger protein 263 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:948,042...954,920
|
|
G |
Znf276 |
zinc finger protein 276 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:15059067 PMID:15523645 PMID:15643609 PMID:16084127 PMID:16199547 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22178060 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:27041517 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28717661 PMID:28767289 PMID:29098742 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30792206 PMID:31586946 PMID:33172906 PMID:33686268 PMID:33718801 More...
|
|
NCBI chrNW_004936641:305,423...332,312
|
|
G |
Znf597 |
zinc finger protein 597 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:849,369...854,290
|
|
G |
Znf598 |
zinc finger protein 598, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:2,019,714...2,035,885
|
|
G |
Znf75a |
zinc finger protein 75a |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:907,382...936,997
|
|
G |
Zscan10 |
zinc finger and SCAN domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936694:1,100,190...1,107,114
|
|
|
G |
Aopep |
aminopeptidase O (putative) |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:12670332 PMID:15695377 PMID:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26740942 PMID:27153395 PMID:28492532 PMID:28767289 PMID:30031030 PMID:32566746 PMID:32659497 More...
|
|
NCBI chrNW_004936626:3,704,474...3,973,913
|
|
G |
Brca1 |
BRCA1 DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17308087 PMID:17574969 PMID:17924331 PMID:19200354 PMID:19563646 PMID:20516115 PMID:21324516 PMID:21356067 PMID:21473589 PMID:21702907 PMID:21965345 PMID:21990134 PMID:22889855 PMID:23867111 PMID:24055113 PMID:24569164 PMID:24845084 PMID:25472942 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26884819 PMID:27272900 PMID:28265380 PMID:28324225 PMID:28477318 PMID:28492532 PMID:28724667 PMID:28831036 PMID:29297111 PMID:29712865 PMID:30103829 PMID:30287823 PMID:31454914 PMID:31472684 PMID:31825140 PMID:33098347 PMID:33471991 More...
|
|
NCBI chrNW_004936490:17,735,444...17,801,456
|
|
G |
Cdk10 |
cyclin dependent kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:23613520 |
|
NCBI chrNW_004936641:351,905...359,553
|
|
G |
Chmp1a |
charged multivesicular body protein 1A |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:23613520 |
|
NCBI chrNW_004936641:366,563...376,303
|
|
G |
Cpne7 |
copine 7 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:23613520 |
|
NCBI chrNW_004936641:413,331...426,514
|
|
G |
Dpep1 |
dipeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:23613520 |
|
NCBI chrNW_004936641:379,112...384,711
|
|
G |
Fanca |
FA complementation group A |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
OMIM ClinVar |
PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 PMID:08896564 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:09721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12827451 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16084127 PMID:16116422 PMID:16199547 PMID:16397136 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:19423727 PMID:20301575 PMID:20435624 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21659346 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24349332 PMID:24584348 PMID:24728327 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25741868 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:27041517 PMID:27148581 PMID:27577878 PMID:27701467 PMID:28102861 PMID:28202063 PMID:28239445 PMID:28492532 PMID:28600779 PMID:28678401 PMID:28687356 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:29093742 PMID:29098742 PMID:29269525 PMID:29621589 PMID:29625052 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30057198 PMID:30086788 PMID:30792206 PMID:31192125 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31721781 PMID:33172906 PMID:33224012 PMID:33686268 PMID:33718801 PMID:34008892 PMID:34906502 More...
|
|
NCBI chrNW_004936641:281,119...319,796
|
|
G |
Fancb |
FA complementation group B |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia, group A |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936470:4,305,220...4,323,456
|
|
G |
Fancc |
FA complementation group C |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:08128956 PMID:08348157 PMID:8799375 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:12670332 PMID:14695169 PMID:14726700 PMID:15695377 PMID:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26740942 PMID:27153395 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29360161 PMID:29643063 PMID:29719599 PMID:30031030 PMID:30306255 PMID:32566746 PMID:32659497 More...
|
|
NCBI chrNW_004936626:3,980,311...4,147,042
|
|
G |
Fancd2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532 |
|
NCBI chrNW_004936602:3,162,177...3,220,468
|
|
G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:25741868 PMID:25927356 PMID:28492532 |
|
NCBI chrNW_004936602:3,160,505...3,161,374
|
|
G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936524:3,103,912...3,110,246
|
|
G |
Fanci |
FA complementation group I |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936483:15,096,215...15,179,856
|
|
G |
Fancl |
FA complementation group L |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28492532 More...
|
|
NCBI chrNW_004936491:4,057,312...4,119,966
|
|
G |
Fancm |
FA complementation group M |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29231814 PMID:29351780 PMID:30075111 PMID:31700994 More...
|
|
NCBI chrNW_004936583:4,085,802...4,145,621
|
|
G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 PMID:26201965 PMID:28202063 PMID:28492532 PMID:30613976 More...
|
|
NCBI chrNW_004936694:720,585...744,477
|
|
G |
Spata2l |
spermatogenesis associated 2 like |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:23613520 |
|
NCBI chrNW_004936641:347,891...351,951
|
|
G |
Spata33 |
spermatogenesis associated 33 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:23613520 |
|
NCBI chrNW_004936641:360,941...366,496
|
|
G |
Vps9d1 |
VPS9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:23613520 |
|
NCBI chrNW_004936641:334,571...344,474
|
|
G |
Vrk2 |
VRK serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28492532 More...
|
|
NCBI chrNW_004936491:3,956,171...4,057,753
|
|
G |
Znf276 |
zinc finger protein 276 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:12955722 PMID:15059067 PMID:15522956 PMID:15523645 PMID:15643609 PMID:16084127 PMID:16199547 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:27041517 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:29098742 PMID:29904161 PMID:30032139 PMID:30792206 PMID:33172906 PMID:33686268 PMID:33718801 More...
|
|
NCBI chrNW_004936641:305,423...332,312
|
|
G |
Znf469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group A |
ClinVar |
PMID:25168418 |
|
NCBI chrNW_004936641:1,193,085...1,205,283
|
|
|
G |
Fancb |
FA complementation group B |
|
ISO |
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B |
OMIM ClinVar |
PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 PMID:23613520 PMID:24033266 PMID:25168418 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004936470:4,305,220...4,323,456
|
|
|
G |
Aopep |
aminopeptidase O (putative) |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group C |
ClinVar |
PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8703809 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10431244 PMID:11050007 PMID:12093742 PMID:12670332 PMID:14695169 PMID:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17924555 PMID:19278965 PMID:20301575 PMID:20509860 PMID:20869034 PMID:21520333 PMID:21659346 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26466335 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:27153395 PMID:27577878 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28717661 PMID:28767289 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30630526 PMID:30967997 PMID:31589614 PMID:32496904 PMID:32659497 PMID:32923857 PMID:33050356 PMID:33471991 More...
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NCBI chrNW_004936626:3,704,474...3,973,913
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G |
Fancc |
FA complementation group C |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group C |
OMIM ClinVar |
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 PMID:08103176 PMID:08128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8799375 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:09452030 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10431244 PMID:10666230 PMID:10994546 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12670332 PMID:14695169 PMID:14726700 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19278965 PMID:19622403 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21520333 PMID:21659346 PMID:22701786 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:23934222 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28873162 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29643063 PMID:29719599 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30306255 PMID:30630526 PMID:30967997 PMID:31300551 PMID:31589614 PMID:32496904 PMID:32659497 PMID:32923857 PMID:33050356 PMID:33083949 PMID:33471991 PMID:34008892 More...
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NCBI chrNW_004936626:3,980,311...4,147,042
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G |
Brca2 |
BRCA2 DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group D1 |
OMIM ClinVar |
PMID:1234 PMID:1232165 PMID:1843150 PMID:1990134 PMID:2928257 PMID:3108138 PMID:4055113 PMID:7924331 PMID:8075631 PMID:8415037 PMID:8524414 PMID:8589730 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8758903 PMID:8840963 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8988179 PMID:9042907 PMID:9042909 PMID:9126734 PMID:9145676 PMID:9150152 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9536098 PMID:9667259 PMID:9758598 PMID:9761393 PMID:9771877 PMID:9792861 PMID:9840533 PMID:9971877 PMID:10188893 PMID:10399947 PMID:10417300 PMID:10433620 PMID:10449599 PMID:10453741 PMID:10464609 PMID:10486320 PMID:10498392 PMID:10551859 PMID:10570174 PMID:10644434 PMID:10699917 PMID:10717622 PMID:10728701 PMID:10755399 PMID:10790213 PMID:10800284 PMID:10882858 PMID:10923033 PMID:10978364 PMID:11030417 PMID:11030418 PMID:11062481 PMID:11106241 PMID:11149425 PMID:11170890 PMID:11179017 PMID:11185744 PMID:11241844 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11447276 PMID:11466700 PMID:11556836 PMID:11595708 PMID:11698567 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11873550 PMID:11896095 PMID:11920621 PMID:11927503 PMID:11929857 PMID:11938448 PMID:11948123 PMID:11950811 PMID:12065746 PMID:12097290 PMID:12100744 PMID:12161607 PMID:12181777 PMID:12203997 PMID:12215251 PMID:12228710 PMID:12237285 PMID:12373604 PMID:12402332 PMID:12442171 PMID:12442265 PMID:12442274 PMID:12473589 PMID:12474142 PMID:12491487 PMID:12491499 PMID:12552570 PMID:12556369 PMID:12624724 PMID:12655567 PMID:12670525 PMID:12684407 PMID:12750298 PMID:12754708 PMID:12759930 PMID:12845657 PMID:12920083 PMID:12942367 PMID:12955716 PMID:12955719 PMID:12960223 PMID:14517958 PMID:14555511 PMID:14559878 PMID:14576434 PMID:14647210 PMID:14647438 PMID:14670928 PMID:14732925 PMID:14973102 PMID:15004464 PMID:15024741 PMID:15026808 PMID:15070707 PMID:15115758 PMID:15117986 PMID:15131399 PMID:15146557 PMID:15168169 PMID:15172753 PMID:15235023 PMID:15290653 PMID:15317758 PMID:15340362 PMID:15365993 PMID:15382066 PMID:15533909 PMID:15617999 PMID:15635067 PMID:15645491 PMID:15689453 PMID:15695382 PMID:15744044 PMID:15799620 PMID:15800311 PMID:15800615 PMID:15806175 PMID:15876480 PMID:15918047 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16030099 PMID:16047333 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16234499 PMID:16261408 PMID:16284991 PMID:16389418 PMID:16489001 PMID:16528604 PMID:16550498 PMID:16683254 PMID:16741161 PMID:16758124 PMID:16760289 PMID:16792514 PMID:16825431 PMID:16826315 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16931905 PMID:16949048 PMID:17026620 PMID:17063270 PMID:17087817 PMID:17100994 PMID:17148771 PMID:17233897 PMID:17250666 PMID:17257844 PMID:17262179 PMID:17289875 PMID:17308087 PMID:17333343 PMID:17341484 PMID:17453335 PMID:17513806 PMID:17515903 PMID:17576681 PMID:17591843 PMID:17591940 PMID:17592676 PMID:17657584 PMID:17688236 PMID:17724471 PMID:17767707 PMID:17851763 PMID:17899372 PMID:17924331 PMID:17925560 PMID:17971607 PMID:17972171 PMID:17972177 PMID:17997147 PMID:18006916 PMID:18042939 PMID:18092194 PMID:18284688 PMID:18375895 PMID:18403564 PMID:18418466 PMID:18431501 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18559594 PMID:18593900 PMID:18607349 PMID:18627636 PMID:18627637 PMID:18693280 PMID:18703817 PMID:18704680 PMID:18724707 PMID:18779604 PMID:18819001 PMID:18824701 PMID:18844490 PMID:18951449 PMID:18951461 PMID:19016756 PMID:19030985 PMID:19043619 PMID:19188187 PMID:19200354 PMID:19229607 PMID:19241424 PMID:19471317 PMID:19473207 PMID:19491284 PMID:19540122 PMID:19619314 PMID:19620486 PMID:19654294 PMID:19656415 PMID:19747923 PMID:19795481 PMID:19796187 PMID:19799798 PMID:19861517 PMID:19863560 PMID:19912264 PMID:19941167 PMID:19967274 PMID:20033483 PMID:20041885 PMID:20054658 PMID:20104584 PMID:20127978 PMID:20135345 PMID:20167696 PMID:20195775 PMID:20215541 PMID:20216074 PMID:20301425 PMID:20380699 PMID:20589654 PMID:20608899 PMID:20614180 PMID:20683152 PMID:20694749 PMID:20736950 PMID:20807450 PMID:20858050 PMID:20887823 PMID:20927582 PMID:20960228 PMID:21063910 PMID:21120943 PMID:21156238 PMID:21203900 PMID:21204799 PMID:21205087 PMID:21218378 PMID:21232165 PMID:21233401 PMID:21279724 PMID:21318380 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21465317 PMID:21497495 PMID:21520273 PMID:21520333 PMID:21548014 PMID:21559243 PMID:21638052 PMID:21643751 PMID:21671020 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21719596 PMID:21769658 PMID:21789034 PMID:21913181 PMID:21939546 PMID:21952622 PMID:21965345 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22034289 PMID:22126563 PMID:22144684 PMID:22160602 PMID:22217648 PMID:22228431 PMID:22366370 PMID:22399190 PMID:22425665 PMID:22426013 PMID:22430266 PMID:22460208 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22638694 PMID:22655046 PMID:22666503 PMID:22678057 PMID:22684231 PMID:22703879 PMID:22711857 PMID:22713736 PMID:22720145 PMID:22729890 PMID:22752604 PMID:22753899 PMID:22762150 PMID:22798144 PMID:22811390 PMID:22848303 PMID:22863191 PMID:22866093 PMID:22874498 PMID:22875147 PMID:22913592 PMID:22921157 PMID:22921312 PMID:22923021 PMID:22962691 PMID:22970155 PMID:22977638 PMID:22995991 PMID:23035815 PMID:23071527 PMID:23096105 PMID:23096355 PMID:23108138 PMID:23199084 PMID:23231788 PMID:23249957 PMID:23318356 PMID:23320992 PMID:23328489 PMID:23341105 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23531862 PMID:23535729 PMID:23555315 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23633455 PMID:23635950 PMID:23658460 PMID:23683081 PMID:23704879 PMID:23704984 PMID:23729402 PMID:23767878 PMID:23884708 PMID:23885733 PMID:23893897 PMID:23929434 PMID:23940062 PMID:23942203 PMID:23960188 PMID:23983145 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24094589 PMID:24123850 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24333842 PMID:24337145 PMID:24348212 PMID:24372583 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25203624 PMID:25233892 PMID:25256924 PMID:25348012 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25452441 PMID:25479140 PMID:25525159 PMID:25556971 PMID:25569433 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25777348 PMID:25782689 PMID:25801821 PMID:25802882 PMID:25863477 PMID:25896959 PMID:25948282 PMID:25980754 PMID:26026974 PMID:26064523 PMID:26155992 PMID:26183948 PMID:26187060 PMID:26207792 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26306726 PMID:26315209 PMID:26332594 PMID:26440929 PMID:26455428 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26541979 PMID:26577449 PMID:26580448 PMID:26586665 PMID:26657402 PMID:26681312 PMID:26681682 PMID:26689913 PMID:26692440 PMID:26709275 PMID:26724258 PMID:26740942 PMID:26757435 PMID:26761715 PMID:26780556 PMID:26787237 PMID:26834852 PMID:26845104 PMID:26846091 PMID:26848529 PMID:26867194 PMID:26898890 PMID:26915939 PMID:26920070 PMID:26968956 PMID:27062684 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27257965 PMID:27273131 PMID:27376475 PMID:27383479 PMID:27393621 PMID:27425403 PMID:27469594 PMID:27495310 PMID:27498913 PMID:27516001 PMID:27553368 PMID:27616075 PMID:27628236 PMID:27633797 PMID:27658390 PMID:27701467 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:27878467 PMID:27907908 PMID:27914478 PMID:28008555 PMID:28111427 PMID:28132688 PMID:28152038 PMID:28179634 PMID:28222693 PMID:28231738 PMID:28263838 PMID:28283652 PMID:28288110 PMID:28294317 PMID:28301460 PMID:28324225 PMID:28339459 PMID:28346442 PMID:28364669 PMID:28422718 PMID:28435519 PMID:28439188 PMID:28477318 PMID:28486781 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28640387 PMID:28664449 PMID:28678401 PMID:28687971 PMID:28724667 PMID:28726806 PMID:28767289 PMID:28807866 PMID:28814288 PMID:28831036 PMID:28843361 PMID:28873162 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29021639 PMID:29084914 PMID:29088781 PMID:29126202 PMID:29161300 PMID:29192238 PMID:29215753 PMID:29240602 PMID:29288066 PMID:29321669 PMID:29339979 PMID:29346284 PMID:29348823 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29394989 PMID:29416040 PMID:29433453 PMID:29446198 PMID:29478780 PMID:29492181 PMID:29506128 PMID:29580235 PMID:29642553 PMID:29667044 PMID:29731985 PMID:29750258 PMID:29752822 PMID:29753700 PMID:29802286 PMID:29854292 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29988080 PMID:30014164 PMID:30055349 PMID:30078507 PMID:30093976 PMID:30152102 PMID:30199306 PMID:30207912 PMID:30212499 PMID:30254663 PMID:30274973 PMID:30286154 PMID:30287823 PMID:30350268 PMID:30400234 PMID:30472649 PMID:30541756 PMID:30555256 PMID:30606148 PMID:30611917 PMID:30630528 PMID:30702160 PMID:30825404 PMID:30883759 PMID:31112341 PMID:31131559 PMID:31131967 PMID:31143303 PMID:31209999 PMID:31294896 PMID:31331294 PMID:31409081 PMID:31422574 PMID:31558676 PMID:31825140 PMID:31843900 PMID:31869745 PMID:32046981 PMID:32123317 PMID:32295079 PMID:32438681 PMID:32444794 PMID:32772980 PMID:32846166 PMID:32866190 PMID:32918181 PMID:33293522 PMID:33471991 PMID:33643918 PMID:33773808 PMID:33868589 PMID:33978741 PMID:34196900 More...
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NCBI chrNW_004936472:26,945,659...27,017,693
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group D2 |
OMIM ClinVar |
PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:21356188 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25168418 PMID:25741868 PMID:26633542 PMID:27041517 PMID:28492532 PMID:29625052 PMID:29659569 PMID:31586946 PMID:32581362 PMID:33558524 More...
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NCBI chrNW_004936602:3,162,177...3,220,468
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G |
Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group D2 |
ClinVar |
PMID:11239453 PMID:16280053 PMID:17436244 PMID:23613520 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31586946 PMID:32581362 More...
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NCBI chrNW_004936602:3,160,505...3,161,374
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G |
Fance |
FA complementation group E |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group E |
OMIM ClinVar |
PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 PMID:14695169 PMID:15609317 PMID:16199547 PMID:16774934 PMID:17308347 PMID:17576681 PMID:17924555 PMID:18271933 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25058500 PMID:25741868 PMID:26822949 PMID:27165003 PMID:27913932 PMID:28492532 PMID:32487094 More...
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NCBI chrNW_004936476:23,783,161...23,794,646
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G |
Fancf |
FA complementation group F |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group F |
OMIM ClinVar |
PMID:9382107 PMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 PMID:18271933 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25741868 PMID:27714961 PMID:28492532 PMID:30256826 PMID:30262796 PMID:30995915 PMID:31288759 PMID:31882575 More...
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NCBI chrNW_004936654:3,298,193...3,301,251
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G |
Fancg |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group G |
OMIM ClinVar |
PMID:9536098 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16643430 PMID:17576681 PMID:17924555 PMID:20301575 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24300640 PMID:24584348 PMID:24728327 PMID:24763404 PMID:25703136 PMID:25741868 PMID:26689913 PMID:28024295 PMID:28102861 PMID:28492532 PMID:28717661 PMID:30031030 More...
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NCBI chrNW_004936524:3,103,912...3,110,246
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G |
LOC101972576 |
valosin containing protein |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group G |
ClinVar |
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936524:3,085,959...3,102,461
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G |
Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group I |
OMIM ClinVar |
PMID:9536098 PMID:17412408 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17924555 PMID:18414213 PMID:18931676 PMID:20971953 PMID:21324748 PMID:22720145 PMID:22778927 PMID:23093618 PMID:23524600 PMID:23613520 PMID:24989076 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26590883 PMID:27987238 PMID:28492532 PMID:28678401 PMID:28878254 PMID:30076350 PMID:30303537 PMID:30773290 More...
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NCBI chrNW_004936483:15,096,215...15,179,856
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group I |
ClinVar |
PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 PMID:27987238 PMID:28492532 PMID:28678401 More...
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NCBI chrNW_004936483:15,178,947...15,196,277
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G |
Brip1 |
BRCA1 interacting helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group J |
OMIM ClinVar |
PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 PMID:14983014 PMID:15285897 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:16199547 PMID:16280053 PMID:16430786 PMID:16973432 PMID:17033622 PMID:17145708 PMID:17342202 PMID:17576681 PMID:17596542 PMID:18414782 PMID:18426915 PMID:18483852 PMID:18510924 PMID:18628483 PMID:18978354 PMID:19099189 PMID:19127258 PMID:19150983 PMID:19197335 PMID:19339519 PMID:19379763 PMID:19442249 PMID:19519404 PMID:19584272 PMID:19763819 PMID:19935797 PMID:20068231 PMID:20159562 PMID:20168331 PMID:20177395 PMID:20639400 PMID:20980836 PMID:21127055 PMID:21165771 PMID:21279724 PMID:21345144 PMID:21356067 PMID:21409391 PMID:21964575 PMID:22006311 PMID:22024395 PMID:22264603 PMID:22287629 PMID:22582397 PMID:22692731 PMID:22792074 PMID:23161009 PMID:23276657 PMID:23555315 PMID:23613520 PMID:23644138 PMID:23935105 PMID:24033266 PMID:24123366 PMID:24240112 PMID:24376576 PMID:24448499 PMID:24487782 PMID:24556621 PMID:24573678 PMID:24584348 PMID:24728327 PMID:24755471 PMID:24763289 PMID:24895130 PMID:25058500 PMID:25186627 PMID:25256751 PMID:25318351 PMID:25330149 PMID:25374583 PMID:25452441 PMID:25503501 PMID:25583461 PMID:25646469 PMID:25722345 PMID:25741868 PMID:25783483 PMID:25846551 PMID:25980754 PMID:25981591 PMID:26206375 PMID:26207792 PMID:26264438 PMID:26296696 PMID:26315354 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26596371 PMID:26635394 PMID:26659599 PMID:26681312 PMID:26681682 PMID:26689913 PMID:26709662 PMID:26720728 PMID:26757417 PMID:26786923 PMID:26790966 PMID:26822149 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26901136 PMID:26911350 PMID:26921362 PMID:26968956 PMID:26976419 PMID:27074266 PMID:27107905 PMID:27150160 PMID:27153395 PMID:27165003 PMID:27179029 PMID:27193682 PMID:27378695 PMID:27427815 PMID:27433846 PMID:27443514 PMID:27458550 PMID:27462233 PMID:27471560 PMID:27498913 PMID:27527004 PMID:27547810 PMID:27553368 PMID:27621404 PMID:27701467 PMID:27978560 PMID:27997549 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28423363 PMID:28452373 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28528518 PMID:28678401 PMID:28709830 PMID:28717660 PMID:28767289 PMID:28796317 PMID:28828701 PMID:28888541 PMID:28911102 PMID:29053726 PMID:29263802 PMID:29335925 PMID:29338689 PMID:29360161 PMID:29368626 PMID:29470806 PMID:29478780 PMID:29625052 PMID:29636988 PMID:29641532 PMID:29667044 PMID:29752822 PMID:29788478 PMID:29922827 PMID:29929473 PMID:30086788 PMID:30093976 PMID:30130155 PMID:30230034 PMID:30256826 PMID:30262796 PMID:30264118 PMID:30267214 PMID:30295334 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30414346 PMID:30426508 PMID:30441849 PMID:30651582 PMID:30728895 PMID:30833958 PMID:30982232 PMID:31159747 PMID:31206626 PMID:31214711 PMID:31265121 PMID:31300551 PMID:31341520 PMID:31366178 PMID:31422574 PMID:31512090 PMID:31558676 PMID:31586946 PMID:31666926 PMID:31786208 PMID:31822495 PMID:31843900 PMID:31844177 PMID:31871109 PMID:31882575 PMID:32019284 PMID:32231423 PMID:32255556 PMID:32295079 PMID:32318955 PMID:32359370 PMID:32566746 PMID:32659497 PMID:32959997 PMID:33028645 PMID:33309985 PMID:33471991 PMID:33619228 PMID:33804961 PMID:34011307 PMID:34204722 More...
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NCBI chrNW_004936490:3,001,445...3,139,538
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G |
Fancl |
FA complementation group L |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group L |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26822237 PMID:26822949 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28492532 PMID:29335925 PMID:29625052 PMID:31300551 PMID:31513304 PMID:32789750 PMID:34008892 More...
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NCBI chrNW_004936491:4,057,312...4,119,966
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G |
Vrk2 |
VRK serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group L |
ClinVar |
PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28492532 More...
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NCBI chrNW_004936491:3,956,171...4,057,753
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G |
Fancm |
FA complementation group M |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia, complementation group M |
ClinVar |
PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936583:4,085,802...4,145,621
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G |
Palb2 |
partner and localizer of BRCA2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group N |
OMIM ClinVar |
PMID:16199547 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17287723 PMID:17420451 PMID:17924555 PMID:18288683 PMID:18302019 PMID:18446436 PMID:18987736 PMID:19264984 PMID:19333784 PMID:19369211 PMID:19584259 PMID:19609323 PMID:19635604 PMID:19763819 PMID:19763884 PMID:20091115 PMID:20122277 PMID:20180015 PMID:20412113 PMID:20582465 PMID:20589654 PMID:20722467 PMID:20852946 PMID:20858716 PMID:20927582 PMID:21113654 PMID:21165770 PMID:21182766 PMID:21285249 PMID:21356067 PMID:21365267 PMID:21409391 PMID:21618343 PMID:21932393 PMID:22052327 PMID:22241545 PMID:22310028 PMID:22692731 PMID:22995991 PMID:23110154 PMID:23341105 PMID:23448497 PMID:23471749 PMID:23555315 PMID:23787919 PMID:23824750 PMID:23935381 PMID:23935836 PMID:23977390 PMID:24033266 PMID:24136930 PMID:24141787 PMID:24206657 PMID:24415441 PMID:24448499 PMID:24549055 PMID:24556926 PMID:24728327 PMID:24763289 PMID:24870022 PMID:24949998 PMID:25099575 PMID:25117502 PMID:25186627 PMID:25225577 PMID:25356972 PMID:25428789 PMID:25447460 PMID:25452441 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25575445 PMID:25666743 PMID:25741868 PMID:25794774 PMID:25980754 PMID:26094658 PMID:26283626 PMID:26315354 PMID:26411315 PMID:26467025 PMID:26485759 PMID:26489409 PMID:26534844 PMID:26564480 PMID:26649820 PMID:26681312 PMID:26689913 PMID:26692951 PMID:26740942 PMID:26786923 PMID:26845104 PMID:26878173 PMID:26898890 PMID:26976419 PMID:26990772 PMID:27067391 PMID:27099641 PMID:27106063 PMID:27153395 PMID:27328445 PMID:27356891 PMID:27397723 PMID:27433846 PMID:27573125 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27624329 PMID:27783279 PMID:27798748 PMID:27829436 PMID:27930734 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28152038 PMID:28158555 PMID:28194609 PMID:28279176 PMID:28281021 PMID:28319063 PMID:28380452 PMID:28423363 PMID:28440294 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28580595 PMID:28664506 PMID:28724667 PMID:28767289 PMID:28779002 PMID:28794409 PMID:28796317 PMID:28825143 PMID:28864920 PMID:28873162 PMID:29052111 PMID:29093764 PMID:29190888 PMID:29263802 PMID:29338689 PMID:29360161 PMID:29368341 PMID:29431189 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29667044 PMID:29752822 PMID:29753700 PMID:29802286 PMID:29909963 PMID:29915322 PMID:29945567 PMID:29961768 PMID:30093976 PMID:30113427 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30322717 PMID:30521987 PMID:30665703 PMID:30680046 PMID:30883245 PMID:30890586 PMID:30982232 PMID:30995915 PMID:31089269 PMID:31090900 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31422574 PMID:31428572 PMID:31447099 PMID:31586400 PMID:31589614 PMID:31636395 PMID:31642931 PMID:31742824 PMID:31757951 PMID:31786208 PMID:31841383 PMID:31843900 PMID:31844177 PMID:31871297 PMID:32019277 PMID:32048105 PMID:32081490 PMID:32338768 PMID:32339256 PMID:32426482 PMID:32566746 PMID:32581362 PMID:32830346 PMID:32832836 PMID:32853339 PMID:32854451 PMID:33169439 PMID:33309985 PMID:33512806 More...
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NCBI chrNW_004936501:8,246,927...8,273,258
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G |
Hsf5 |
heat shock transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group O |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936490:4,639,415...4,679,153
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G |
Mtmr4 |
myotubularin related protein 4 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group O |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936490:4,611,350...4,638,181
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G |
Rad51c |
RAD51 paralog C |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group O |
OMIM ClinVar |
PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 PMID:15170666 PMID:16199547 PMID:17576681 PMID:18203022 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:20952512 PMID:21447597 PMID:21537932 PMID:21597919 PMID:21616938 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22006311 PMID:22167183 PMID:22370629 PMID:22406018 PMID:22451500 PMID:22476429 PMID:22538716 PMID:22725699 PMID:23117857 PMID:23149936 PMID:23176254 PMID:23500037 PMID:24082139 PMID:24139550 PMID:24141787 PMID:24240112 PMID:24315737 PMID:24359560 PMID:24504028 PMID:24549055 PMID:24631219 PMID:24763404 PMID:24800917 PMID:24993905 PMID:24998779 PMID:25086635 PMID:25154786 PMID:25186627 PMID:25292178 PMID:25318351 PMID:25338684 PMID:25452441 PMID:25470109 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25833843 PMID:25980754 PMID:26057125 PMID:26103414 PMID:26261251 PMID:26270727 PMID:26354865 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26691941 PMID:26720728 PMID:26740214 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26848151 PMID:26911350 PMID:26976419 PMID:27037238 PMID:27149507 PMID:27149842 PMID:27153395 PMID:27230542 PMID:27328445 PMID:27433846 PMID:27443514 PMID:27616075 PMID:27621404 PMID:27622768 PMID:27852271 PMID:27878467 PMID:27913932 PMID:27978560 PMID:28123851 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28281021 PMID:28492532 PMID:28528518 PMID:28588062 PMID:28678401 PMID:28709830 PMID:28726808 PMID:28767289 PMID:28802053 PMID:28829762 PMID:28864920 PMID:28873162 PMID:28905878 PMID:29053726 PMID:29054568 PMID:29158291 PMID:29255180 PMID:29263802 PMID:29278735 PMID:29360161 PMID:29409816 PMID:29416752 PMID:29458332 PMID:29470806 PMID:29522266 PMID:29566657 PMID:29641532 PMID:29659569 PMID:29752822 PMID:29785153 PMID:29858219 PMID:29922827 PMID:29978187 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30257646 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30374176 PMID:30426508 PMID:30515680 PMID:30551670 PMID:30924587 PMID:30927251 PMID:30949688 PMID:31159747 PMID:31173646 PMID:31300551 PMID:31422574 PMID:31742824 PMID:31782267 PMID:31843900 PMID:31874108 PMID:31882575 PMID:32107557 PMID:32242007 PMID:32295079 PMID:32427313 PMID:32566746 PMID:32658311 PMID:32659497 PMID:32809180 PMID:32832836 PMID:32885271 PMID:32957588 PMID:33011440 PMID:33333735 PMID:33471991 More...
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NCBI chrNW_004936490:4,440,638...4,473,301
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G |
Rnf43 |
ring finger protein 43 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group O |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936490:4,660,904...4,742,669
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G |
Septin4 |
septin 4 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group O |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936490:4,597,888...4,609,905
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G |
Tex14 |
testis expressed 14, intercellular bridge forming factor |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group O |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936490:4,499,825...4,576,952
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G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group P |
OMIM ClinVar |
PMID:21240275 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25741868 PMID:26201965 PMID:27153395 PMID:28492532 PMID:28678401 PMID:29607586 PMID:30306255 PMID:30613976 PMID:32368696 More...
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NCBI chrNW_004936694:720,585...744,477
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G |
Ercc4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group Q |
OMIM ClinVar |
PMID:8797827 PMID:9579555 PMID:15886521 PMID:16550608 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623386 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:27356891 PMID:27528516 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29403087 PMID:29892709 PMID:32487094 More...
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NCBI chrNW_004936501:2,301,072...2,329,346
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G |
Rad51 |
RAD51 recombinase |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group R |
OMIM ClinVar |
PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 |
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NCBI chrNW_004936471:4,119,020...4,136,811
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G |
Brca1 |
BRCA1 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S |
OMIM ClinVar |
PMID:2618727 PMID:7493024 PMID:7663517 PMID:7795652 PMID:7837387 PMID:7894491 PMID:7894493 PMID:8606385 PMID:8644702 PMID:8807330 PMID:8968102 PMID:9333265 PMID:9482581 PMID:9525870 PMID:9663595 PMID:9667259 PMID:10359546 PMID:10486320 PMID:10788334 PMID:10811118 PMID:11157798 PMID:11179017 PMID:11278247 PMID:11320250 PMID:11504767 PMID:11739404 PMID:11802209 PMID:11956590 PMID:12204006 PMID:12393792 PMID:12400015 PMID:12496476 PMID:12566964 PMID:12698193 PMID:12732733 PMID:12810666 PMID:12938098 PMID:12955716 PMID:14517958 PMID:14760071 PMID:15004537 PMID:15024741 PMID:15145354 PMID:15172985 PMID:15235020 PMID:15290653 PMID:15365993 PMID:15383404 PMID:15569676 PMID:15876480 PMID:16168118 PMID:16227521 PMID:16267036 PMID:16280041 PMID:16284991 PMID:16403807 PMID:16455195 PMID:16515586 PMID:17305420 PMID:17308087 PMID:17369502 PMID:17574969 PMID:17645508 PMID:17924331 PMID:18680205 PMID:18763032 PMID:18783588 PMID:18824701 PMID:19200354 PMID:19208665 PMID:19563646 PMID:19594371 PMID:19770520 PMID:20103620 PMID:20104584 PMID:20180014 PMID:20345474 PMID:20373018 PMID:20378548 PMID:20507347 PMID:20516115 PMID:20569256 PMID:20683152 PMID:20727672 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21447777 PMID:21473589 PMID:21702907 PMID:21725363 PMID:21922593 PMID:21965345 PMID:21989927 PMID:21990134 PMID:21990165 PMID:22010008 PMID:22172724 PMID:22476429 PMID:22711857 PMID:22713736 PMID:22798144 PMID:22843421 PMID:22889855 PMID:23161852 PMID:23199084 PMID:23269703 PMID:23458327 PMID:23469205 PMID:23479189 PMID:23580280 PMID:23633455 PMID:23683081 PMID:23725378 PMID:23867111 PMID:24033266 PMID:24055113 PMID:24131973 PMID:24240112 PMID:24312913 PMID:24489791 PMID:24504028 PMID:24569164 PMID:24728189 PMID:24845084 PMID:24884479 PMID:25186627 PMID:25256238 PMID:25330149 PMID:25371446 PMID:25400221 PMID:25452441 PMID:25472942 PMID:25525159 PMID:25556971 PMID:25682074 PMID:25741868 PMID:25748678 PMID:25782689 PMID:25823446 PMID:25863477 PMID:25948282 PMID:26026974 PMID:26083025 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26350514 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26718727 PMID:26786923 PMID:26845104 PMID:26852130 PMID:26884819 PMID:26913838 PMID:27153395 PMID:27272900 PMID:27425403 PMID:27433846 PMID:27741520 PMID:27836010 PMID:27978560 PMID:28265380 PMID:28283652 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28478614 PMID:28492532 PMID:28724667 PMID:28781887 PMID:28831036 PMID:29061375 PMID:29133208 PMID:29297111 PMID:29335924 PMID:29433453 PMID:29446198 PMID:29478780 PMID:29492181 PMID:29712865 PMID:29797126 PMID:29998185 PMID:30055521 PMID:30067863 PMID:30103829 PMID:30209399 PMID:30219179 PMID:30287823 PMID:30606148 PMID:30765603 PMID:31209999 PMID:31341520 PMID:31347298 PMID:31454914 PMID:31472684 PMID:31825140 PMID:32295079 PMID:33098347 PMID:33471991 More...
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NCBI chrNW_004936490:17,735,444...17,801,456
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G |
Lgr6 |
leucine rich repeat containing G protein-coupled receptor 6 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group T |
ClinVar |
PMID:26046368 |
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NCBI chrNW_004936567:2,238,036...2,355,836
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G |
Ube2t |
ubiquitin conjugating enzyme E2 T |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group T |
OMIM ClinVar |
PMID:25741868 PMID:26046368 PMID:26119737 |
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NCBI chrNW_004936567:2,222,317...2,226,725
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G |
Xrcc2 |
X-ray repair cross complementing 2 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group U |
OMIM ClinVar |
PMID:11118202 PMID:22232082 PMID:22464251 PMID:23054243 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26689913 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 PMID:28767289 PMID:30306255 PMID:32860008 More...
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NCBI chrNW_004936527:7,760,609...7,785,360
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G |
Mad2l2 |
mitotic arrest deficient 2 like 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia complementation group V |
OMIM ClinVar |
PMID:27500492 |
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NCBI chrNW_004936474:538,703...542,901
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G |
Rfwd3 |
ring finger and WD repeat domain 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia, complementation group W |
OMIM ClinVar |
PMID:25741868 PMID:26474068 PMID:28691929 PMID:33044890 |
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NCBI chrNW_004936475:23,544,974...23,586,716
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28492532 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chrNW_004936695:353,965...492,014
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G |
Slc11a2 |
solute carrier family 11 member 2 |
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ISO |
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OMIM |
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NCBI chrNW_004936512:8,590,302...8,622,121
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G |
Dnm1l |
dynamin 1 like |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936607:3,576,357...3,632,423
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936660:2,192,583...2,199,645
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936607:3,565,333...3,590,499
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 |
OMIM ClinVar |
PMID:7726239 PMID:14981724 PMID:15108122 PMID:17056637 PMID:23707380 PMID:25227147 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936660:2,192,583...2,199,645
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G |
Dnm1l |
dynamin 1 like |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936607:3,576,357...3,632,423
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G |
Yars2 |
tyrosyl-tRNA synthetase 2 |
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ISO |
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 |
OMIM ClinVar |
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30026338 More...
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NCBI chrNW_004936607:3,565,333...3,590,499
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G |
LOC101972117 |
hepcidin antimicrobial peptide |
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ISO |
mRNA:increased expression:liver |
RGD |
PMID:25580431 |
RGD:11041717 |
NCBI chrNW_004936570:1,009,344...1,010,654
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16892088 PMID:18398482 PMID:18637800 |
RGD:11038732 |
NCBI chrNW_004936683:1,224,703...1,326,761
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G |
Alad |
aminolevulinate dehydratase |
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ISO |
protein:decreased activity:kidney, liver, spleen |
RGD |
PMID:5891055 |
RGD:12904678 |
NCBI chrNW_004936559:226,481...237,258
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
susceptibility |
ISO |
DNA:transversion:cds:p.F165L (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:7949148 PMID:16716198 PMID:16892088 |
RGD:1599037 |
NCBI chrNW_004936751:1,818,255...1,841,028
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G |
Calr |
calreticulin |
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ISO |
DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) |
RGD |
PMID:24325359 |
RGD:11352763 |
NCBI chrNW_004936659:1,994,695...1,999,070
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G |
Gdf15 |
growth differentiation factor 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19036111 |
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NCBI chrNW_004936596:2,854,620...2,857,018
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G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chrNW_004936531:7,702,186...7,716,428
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G |
Pus1 |
pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936660:2,192,583...2,199,645
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G |
Slc25a38 |
solute carrier family 25 member 38 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19412178 |
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NCBI chrNW_004936473:28,602,920...28,621,024
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16910769 PMID:21326867 |
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NCBI chrNW_004936489:11,178,338...11,191,601
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G |
Tfrc |
transferrin receptor |
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ISO |
mRNA,protein:increased expression:erythroblast: |
RGD |
PMID:21326867 |
RGD:11062136 |
NCBI chrNW_004936784:696,738...728,385
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G |
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 DNA:mutations:exons:p.K299Q,A172T(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) |
OMIM ClinVar 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:18823803 PMID:20848343 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:25741868 PMID:28492532 PMID:28840292 More...
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RGD:11035241 RGD:11035243 |
NCBI chrNW_004936751:1,818,255...1,841,028
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G |
Apex2 |
apurinic/apyrimidinic endodeoxyribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 |
ClinVar |
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NCBI chrNW_004936751:1,807,867...1,817,780
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G |
Slc25a38 |
solute carrier family 25 member 38 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936473:28,602,920...28,621,024
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G |
Hscb |
HscB mitochondrial iron-sulfur cluster cochaperone |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 5 |
OMIM ClinVar |
PMID:32634119 |
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NCBI chrNW_004936657:2,848,282...2,860,115
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G |
Trnt1 |
tRNA nucleotidyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
OMIM ClinVar |
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 PMID:31019026 PMID:31338833 PMID:32371413 PMID:32592741 PMID:33332575 More...
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NCBI chrNW_004936577:2,814,464...2,834,068
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia DNA:missense mutation: :p.I400M (human) |
OMIM ClinVar RGD |
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 PMID:17576681 PMID:22398176 PMID:25741868 PMID:28492532 More...
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RGD:1598600 |
NCBI chrNW_004936683:1,224,703...1,326,761
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia |
ClinVar |
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NCBI chrNW_004936751:1,818,255...1,841,028
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