RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
G
Anapc2
anaphase promoting complex subunit 2
ISO
protein:decreased expression:bone marrow (human)
RGD
PMID:28968996
RGD:14696669
NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
G
Cd40lg
CD40 ligand
ISO
protein:decreased expression:serum (human)
RGD
PMID:22537155
RGD:11352267
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cd86
CD86 molecule
ISO
protein:increased expression:blood, dendritic cell (human)
RGD
PMID:21234821
RGD:11354968
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9885444 PMID:12221670
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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 chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Ddx41
DEAD-box helicase 41
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
G
Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
PMID:25741868
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
G
Dkc1
dyskerin pseudouridine synthase 1
ISO
DNA:missense mutations:exon:p.V105G, p.S121A (human)
RGD
PMID:26360549
RGD:11251733
G
Ephx1
epoxide hydrolase 1
susceptibility disease_progression
ISO
DNA:missense mutation:exon:p.H139R (human) DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
RGD
PMID:21228718 PMID:26999617
RGD:11252118 , RGD:11252120
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 PMID:33471991 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
ISO
RGD
PMID:16212902
RGD:1582425
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Flt3lg
Fms related receptor tyrosine kinase 3 ligand
ISO
protein:increased expression:serum,plasma:
RGD
PMID:7492765
RGD:11049505
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
G
Gata2
GATA binding protein 2
ISO
mRNA:decreased expression:CD34+ cell
RGD
PMID:11328281
RGD:11049519
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
G
Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:decreased expression:bone marrow cell:
RGD
PMID:17156408
RGD:11040507
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
in male
RGD
PMID:16079101
RGD:10450858
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
RGD
PMID:14681495 PMID:16227674
RGD:10450790 , RGD:10450878
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Ifng
interferon gamma
susceptibility treatment
ISO ISS
OMIM:609135 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aplastic anemia DNA:polymorphism: : 874A>T(human) DNA:repeats,haplotype:intron: -2,353 A>T(human) DNA:repeats:intron:
OMIM MouseDO CTD ClinVar RGD
PMID:18426658 PMID:20953611 PMID:15327519
RGD:10755710 , RGD:10755690 , RGD:10755688
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Kit
KIT proto-oncogene receptor tyrosine kinase
severity
IMP
RGD
PMID:7694680
RGD:12910751
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
G
KitWs
KIT proto-oncogene receptor tyrosine kinase; mutant 1
severity
IMP
RGD
PMID:7694680
RGD:12910751
G
Nbn
nibrin
ISO
ClinVar Annotator: match by term: Aplastic anemia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11288710 PMID:11325820 PMID:11953735 PMID:12123493 PMID:12353271 PMID:12433983 PMID:12447395 PMID:12505263 PMID:12621246 PMID:12708449 PMID:12833396 PMID:12845677 PMID:14559852 PMID:14973119 PMID:15048089 PMID:15185344 PMID:15279809 PMID:15338273 PMID:15451479 PMID:15474156 PMID:15593232 PMID:15964794 PMID:16033915 PMID:16199547 PMID:16415040 PMID:16474176 PMID:16544999 PMID:16770759 PMID:16810201 PMID:17103455 PMID:17496786 PMID:17576681 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:18281469 PMID:18575580 PMID:18593981 PMID:18606567 PMID:18940477 PMID:19105185 PMID:19393249 PMID:19409520 PMID:19452044 PMID:19523210 PMID:19635536 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20444919 PMID:20805886 PMID:21035407 PMID:21212067 PMID:21698754 PMID:22006311 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22864661 PMID:22941933 PMID:23149842 PMID:23317186 PMID:23555315 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24396275 PMID:24549055 PMID:24728327 PMID:24763289 PMID:24830725 PMID:24894818 PMID:25186627 PMID:25485873 PMID:25503501 PMID:25619955 PMID:25677497 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26270727 PMID:26315354 PMID:26467025 PMID:26534844 PMID:26564480 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26722329 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26898890 PMID:26976419 PMID:27109316 PMID:27149842 PMID:27150568 PMID:27153395 PMID:27433846 PMID:27443514 PMID:27498913 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28261280 PMID:28374160 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28727877 PMID:28801450 PMID:28873162 PMID:28888541 PMID:29093764 PMID:29335925 PMID:29368341 PMID:29371908 PMID:29419426 PMID:29470806 PMID:29484706 PMID:29506128 PMID:29522266 PMID:29596542 PMID:29615459 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29678143 PMID:29785153 PMID:29915322 PMID:29922827 PMID:30130155 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30426508 PMID:30441849 PMID:30541756 PMID:30590007 PMID:30612635 PMID:30613976 PMID:30651582 PMID:30980208 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31278556 PMID:31422574 PMID:31666926 PMID:31742824 PMID:31780696 PMID:31874108 PMID:31911633 PMID:32068069 PMID:32191290 PMID:32268276 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32427313 PMID:32566746 PMID:32658311 PMID:32668560 PMID:32782288 PMID:32832836 PMID:32866190 PMID:32885271 PMID:32906206 PMID:32936981 PMID:32980694 PMID:33050356 PMID:33095795 PMID:33309985 PMID:33471974 PMID:33471991 PMID:33630411 PMID:33646313 PMID:33652732 PMID:33800431 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34204722 PMID:34251444 PMID:34284872 PMID:34326862 PMID:34544220 PMID:34964003 PMID:34994648 PMID:35186721 PMID:35245693 PMID:35264596 PMID:35309086 PMID:35467778 PMID:35654374 PMID:35739269 PMID:36346689 PMID:36451132 PMID:36988593 More...
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
G
Prf1
perforin 1
ISO
ClinVar Annotator: match by term: Aplastic anemia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:12725560 PMID:14576041 PMID:14739222 PMID:14757862 PMID:15205266 PMID:15365097 PMID:15632205 PMID:15728124 PMID:15755897 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17311987 PMID:17356398 PMID:17477373 PMID:17525286 PMID:17576681 PMID:17601962 PMID:17606450 PMID:17627755 PMID:17674359 PMID:17873118 PMID:18074390 PMID:18190960 PMID:18710388 PMID:18927437 PMID:19487666 PMID:19595804 PMID:19639728 PMID:20015888 PMID:20092789 PMID:20197201 PMID:21152410 PMID:21234777 PMID:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23073290 PMID:23160464 PMID:23180437 PMID:23255033 PMID:23264592 PMID:23443029 PMID:23592409 PMID:24309606 PMID:24390453 PMID:24578718 PMID:24744671 PMID:24916509 PMID:25047945 PMID:25215106 PMID:25233452 PMID:25297583 PMID:25326637 PMID:25354579 PMID:25577959 PMID:25741868 PMID:26184781 PMID:26199792 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:26903364 PMID:27033761 PMID:27209435 PMID:27271812 PMID:27391055 PMID:27577878 PMID:27622035 PMID:27896523 PMID:28492532 PMID:29113160 PMID:29239076 PMID:29357941 PMID:29665027 PMID:30697212 PMID:30849948 PMID:30899265 PMID:31388699 PMID:31395954 PMID:31789783 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:33225392 PMID:33365035 PMID:33746956 PMID:33822359 PMID:34170459 PMID:34677667 More...
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
G
Rasa3
RAS p21 protein activator 3
ISS
OMIM:609135
MouseDO
NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804
G
Rpl5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
PMID:25741868
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
G
RT1-Ba
RT1 class II, locus Ba
treatment
ISO
DNA:polymorphism, haplotype
RGD
PMID:12070003 PMID:7994040
RGD:11041765 , RGD:11041775
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
severity treatment
ISO
DNA:polymorphism, haplotype
RGD
PMID:24979673 PMID:7994040 PMID:12070003
RGD:11041757 , RGD:11041775 , RGD:11041765
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Sbds
Sbds, ribosome maturation factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aplastic anemia
CTD OMIM ClinVar
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:25741913 PMID:26479198 PMID:26822237 PMID:32150944 PMID:32581362 More...
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
G
Terc
telomerase RNA component
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 PMID:15319288 PMID:15550482 PMID:17640862 PMID:19095616 PMID:19835419 PMID:20022961 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:25612863 PMID:25741868 PMID:28492532 More...
NCBI chr 2:112,815,654...112,816,041
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Aplastic anemia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16332973 PMID:16627250 PMID:17460043 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21520173 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22424236 PMID:22476886 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26360549 PMID:26365799 PMID:26580448 PMID:27354474 PMID:27540018 PMID:27848944 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29146883 PMID:29483670 PMID:29625052 PMID:30203795 PMID:30523342 PMID:30791107 PMID:35776903 PMID:23336163 More...
RGD:11038668
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tgfb1
transforming growth factor, beta 1
susceptibility severity
ISO
DNA:polymorphism: :509C>T(human) protein:decreased expression: :
RGD
PMID:24362456 PMID:24028718
RGD:11073601 , RGD:11073606
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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
Ensembl chr11:80,182,820...80,188,167
G
Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
PMID:20301779
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
G
Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:12941546
RGD:10449452
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Hspa9
heat shock protein family A (Hsp70) member 9
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 4
OMIM ClinVar
PMID:3653362 PMID:25741868 PMID:26491070 PMID:28492532
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
G
Glrx5
glutaredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
G
Slc25a38
solute carrier family 25, member 38
ISO
CTD Direct Evidence: marker/mechanism 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 CTD 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:30214775 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 PMID:34298585 More...
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
G
Glrx5
glutaredoxin 5
ISO
ClinVar Annotator: match by term: Sideroblastic anemia 3
OMIM ClinVar
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
G
Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia
ClinVar
PMID:25741868
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
G
Srp72
signal recognition particle 72
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532
NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
G
Actmap
actin maturation protease
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
G
Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
G
Arhgef1
Rho guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
G
Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
G
Axl
Axl receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
G
B3gnt8
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
G
B9d2
B9 domain containing 2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
G
Bckdha
branched chain keto acid dehydrogenase E1 subunit alpha
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
G
Blvrb
biliverdin reductase B
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
G
C1h19orf47
similar to human chromosome 19 open reading frame 47
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
G
Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
G
Ccdc97
coiled-coil domain containing 97
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
G
Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
G
Ceacam15
CEA cell adhesion molecule 15
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
G
Ceacam4
CEA cell adhesion molecule 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
G
Ceacam6
CEA cell adhesion molecule 6
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
G
Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
G
Cnfn
cornifelin
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
G
Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
G
Cyp2a1
cytochrome P450, family 2, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
G
Cyp2a3
cytochrome P450, family 2, subfamily a, polypeptide 3
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
G
Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
G
Cyp2f4
cytochrome P450, family 2, subfamily f, polypeptide 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
G
Cyp2s1
cytochrome P450, family 2, subfamily s, polypeptide 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
G
Dedd2
death effector domain containing 2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
G
Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:20054847 PMID:25741868 PMID:28492532
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
G
Dll3
delta like canonical Notch ligand 3
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
G
Dmac2
distal membrane arm assembly component 2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
G
Dmrtc2
DMRT-like family C2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
G
Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
G
Egln2
egl-9 family hypoxia-inducible factor 2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
G
Eid2
EP300 interacting inhibitor of differentiation 2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,538,274...83,539,599
G
Eid2b
EP300 interacting inhibitor of differentiation 2B
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
G
Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
G
Erich4
glutamate-rich 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
G
Exosc5
exosome component 5
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
G
Fbl
fibrillarin
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
G
Fcgbp
Fc gamma binding protein
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
G
Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:871527 PMID:3164080 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25741868 PMID:28492532 PMID:29146883 PMID:35030251 More...
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Grik5
glutamate ionotropic receptor kainate type subunit 5
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
G
Gsk3a
glycogen synthase kinase 3 alpha
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
G
Hipk4
homeodomain interacting protein kinase 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
G
Hnrnpul1
heterogeneous nuclear ribonucleoprotein U-like 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
G
Itpkc
inositol-trisphosphate 3-kinase C
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
G
Lgals5
galectin 5
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
G
Lipe
lipase E, hormone sensitive type
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
G
Ltbp4
latent transforming growth factor beta binding protein 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
G
Lypd4
Ly6/Plaur domain containing 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
G
Map3k10
mitogen activated protein kinase kinase kinase 10
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
G
Megf8
multiple EGF-like-domains 8
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
G
Mia
MIA SH3 domain containing
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
G
Numbl
NUMB-like, endocytic adaptor protein
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
G
Pafah1b3
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
G
Pld3
phospholipase D family, member 3
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
G
Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
G
Pou2f2
POU class 2 homeobox 2
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
G
Prr19
proline rich 19
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
G
Prx
periaxin
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
G
Psmc4
proteasome 26S subunit, ATPase 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
G
Rab4b
RAB4B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
G
Rabac1
Rab acceptor 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
G
Rpl19
ribosomal protein L19
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112
G
Rpl26
ribosomal protein L26
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
G
Rpl5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:20054847 PMID:25741868 PMID:28492532
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
G
Rps10
ribosomal protein S10
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
G
Rps10l6
ribosomal protein S10-like 6
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:18,308,287...18,309,139
G
Rps16
ribosomal protein S16
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
G
Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:9988267 PMID:10753603 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18412286 PMID:20378560 PMID:20395159 PMID:20606162 PMID:24952648 PMID:25741868 PMID:27882484 PMID:28102861 PMID:28492532 PMID:29766597 PMID:30503522 PMID:35923690 More...
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
G
Rps24
ribosomal protein S24
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
G
Selenov
selenoprotein V
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
G
Sertad1
SERTA domain containing 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
G
Sertad3
SERTA domain containing 3
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
G
Shkbp1
Sh3kbp1 binding protein 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
G
Snrpa
small nuclear ribonucleoprotein polypeptide A
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
G
Sptbn4
spectrin, beta, non-erythrocytic 4
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
G
Supt5h
SPT5 homolog, DSIF elongation factor subunit
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
G
Tgfb1
transforming growth factor, beta 1
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Timm50
translocase of inner mitochondrial membrane 50
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
G
Tmem145
transmembrane protein 145
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
G
Tmem91
transmembrane protein 91
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
G
Ttc9b
tetratricopeptide repeat domain 9B
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
G
Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:38827
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
G
Zfp11
zinc finger protein 11
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
G
Zfp526
zinc finger protein 526
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
G
Zfp574
zinc finger protein 574
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
G
Znf780b
zinc finger protein 780B
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:28492532
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
G
Actmap
actin maturation protease
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
G
Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
G
Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
G
Alox15b
arachidonate 15-lipoxygenase, type B
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
G
Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
G
Arhgef1
Rho guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
G
Arhgef15
Rho guanine nucleotide exchange factor 15
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
G
Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
G
Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
G
Axl
Axl receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
G
B3gnt8
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
G
B9d2
B9 domain containing 2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
G
Bckdha
branched chain keto acid dehydrogenase E1 subunit alpha
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
G
Blvrb
biliverdin reductase B
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
G
Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
G
C1h19orf47
similar to human chromosome 19 open reading frame 47
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
G
Ccdc97
coiled-coil domain containing 97
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
G
Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
G
Ceacam15
CEA cell adhesion molecule 15
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
G
Ceacam4
CEA cell adhesion molecule 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
G
Ceacam6
CEA cell adhesion molecule 6
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
G
Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
G
Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
G
Cnfn
cornifelin
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
G
Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
G
Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
G
Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
G
Cyb5d1
cytochrome b5 domain containing 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
G
Cyp2a1
cytochrome P450, family 2, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
G
Cyp2a3
cytochrome P450, family 2, subfamily a, polypeptide 3
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
G
Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
G
Cyp2f4
cytochrome P450, family 2, subfamily f, polypeptide 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
G
Cyp2s1
cytochrome P450, family 2, subfamily s, polypeptide 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
G
Dedd2
death effector domain containing 2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
G
Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 More...
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
G
Dll3
delta like canonical Notch ligand 3
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
G
Dmac2
distal membrane arm assembly component 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
G
Dmrtc2
DMRT-like family C2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
G
Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
G
Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
G
Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
G
Egln2
egl-9 family hypoxia-inducible factor 2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
G
Eid2
EP300 interacting inhibitor of differentiation 2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,538,274...83,539,599
G
Eid2b
EP300 interacting inhibitor of differentiation 2B
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
G
Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
G
Erich4
glutamate-rich 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
G
Exosc5
exosome component 5
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
G
Fbl
fibrillarin
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
G
Fcgbp
Fc gamma binding protein
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
G
Flvcr1
FLVCR choline and heme transporter 1
ISS
OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909
MouseDO
NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
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:3164080 PMID:8628290 PMID:9536098 PMID:11566888 PMID:12200364 PMID:14691578 PMID:15070711 PMID:15895080 PMID:15920471 PMID:16095949 PMID:16103636 PMID:16199547 PMID:16783379 PMID:17209061 PMID:17576681 PMID:17713552 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:20922527 PMID:22706301 PMID:23704091 PMID:24255919 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25232504 PMID:25741868 PMID:27993330 PMID:28492532 PMID:29146883 PMID:35030251 PMID:35328001 PMID:36845397 More...
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Gh1
growth hormone 1
treatment
ISO
RGD
PMID:25492299
RGD:11352737
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
G
Glod5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
G
Grik5
glutamate ionotropic receptor kainate type subunit 5
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
G
Gsk3a
glycogen synthase kinase 3 alpha
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
G
Gucy2d
guanylate cyclase 2D, retinal
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
G
Heatr3
HEAT repeat containing 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:35213692
NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
G
Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
G
Hipk4
homeodomain interacting protein kinase 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
G
Hnrnpul1
heterogeneous nuclear ribonucleoprotein U-like 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
G
Iqcg
IQ motif containing G
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 More...
NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
G
Itpkc
inositol-trisphosphate 3-kinase C
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
G
Kcnab3
potassium voltage-gated channel subfamily A regulatory beta subunit 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
G
Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
G
Klf1
KLF transcription factor 1
ISO
mRNA:decreased expression:bone marrow, blood
RGD
PMID:22965552
RGD:10769343
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
G
Lgals5
galectin 5
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
G
Lipe
lipase E, hormone sensitive type
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
G
Ltbp4
latent transforming growth factor beta binding protein 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
G
Lypd4
Ly6/Plaur domain containing 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
G
Map3k10
mitogen activated protein kinase kinase kinase 10
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
G
Megf8
multiple EGF-like-domains 8
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
G
Mia
MIA SH3 domain containing
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
G
Naa38
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
G
Numbl
NUMB-like, endocytic adaptor protein
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
G
Odf4
outer dense fiber of sperm tails 4
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359
G
Pafah1b3
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
G
Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
G
Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
G
Pld3
phospholipase D family, member 3
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
G
Plekhg2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
G
Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:22855961 PMID:25741868 PMID:27029625
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
G
Pou2f2
POU class 2 homeobox 2
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
G
Prr19
proline rich 19
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
G
Prx
periaxin
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
G
Psmc4
proteasome 26S subunit, ATPase 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
G
Rab4b
RAB4B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
G
Rabac1
Rab acceptor 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
G
Rangrf
RAN guanine nucleotide release factor
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
G
Rnf227
ring finger protein 227
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,061,054...54,063,015
Ensembl chr10:54,059,947...54,063,010
G
Rpl11
ribosomal protein L11
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 PMID:23718193 PMID:25741868 PMID:26136524 PMID:26185635 PMID:28492532 PMID:30503522 More...
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
G
Rpl19
ribosomal protein L19
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112
G
Rpl26
ribosomal protein L26
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:9536098 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:25741868 PMID:28492532 More...
NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
G
Rpl35a
ribosomal protein L35A
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 More...
NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942 Ensembl chr 5:67,726,032...67,729,942
G
Rpl5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20378560 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 PMID:33718801 More...
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
G
Rps10
ribosomal protein S10
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 PMID:23718193 PMID:25741868 PMID:28065601 PMID:28132843 PMID:28492532 More...
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
G
Rps10l6
ribosomal protein S10-like 6
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 More...
NCBI chr15:18,308,287...18,309,139
G
Rps16
ribosomal protein S16
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
G
Rps17
ribosomal protein S17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD ClinVar
PMID:17647292 PMID:19953637 PMID:25741868
NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
G
Rps19
ribosomal protein S19
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
CTD ClinVar
PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15059149 PMID:15075082 PMID:15384984 PMID:15523650 PMID:16159874 PMID:16199547 PMID:17053056 PMID:17082006 PMID:17376718 PMID:17517689 PMID:17576681 PMID:17726054 PMID:18217898 PMID:18412286 PMID:18768533 PMID:20378560 PMID:20395159 PMID:20603584 PMID:20606162 PMID:20960466 PMID:22045982 PMID:22262766 PMID:22381658 PMID:22783360 PMID:23349008 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25042156 PMID:25132370 PMID:25381059 PMID:25703294 PMID:25741868 PMID:25946618 PMID:26136524 PMID:26604301 PMID:27329125 PMID:27882484 PMID:28102861 PMID:28376382 PMID:28492532 PMID:29766597 PMID:30503522 PMID:31574871 PMID:33718801 PMID:34110484 PMID:35923690 PMID:36321656 More...
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
G
Rps20
ribosomal protein S20
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:25741868 PMID:32790018
NCBI chr 5:16,819,095...16,820,476
Ensembl chr 5:16,819,304...16,820,475 Ensembl chr 9:16,819,304...16,820,475 Ensembl chr 3:16,819,304...16,820,475
G
Rps24
ribosomal protein S24
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
ClinVar
PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 PMID:22855961 PMID:25741868 PMID:26136524 PMID:27029625 PMID:28492532 PMID:29748317 More...
NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
G
Rps26
ribosomal protein S26
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:26604301 PMID:27329125 PMID:28102861 PMID:28492532 More...
NCBI chr 7:1,057,332...1,058,882
G
Rps7
ribosomal protein S7
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:25741868 PMID:26136524 PMID:28492532
NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
G
Rpsa
ribosomal protein SA
ISS
OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909
MouseDO
NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
G
Scarna21
small Cajal body-specific RNA 21
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098
G
Selenov
selenoprotein V
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
G
Sertad1
SERTA domain containing 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
G
Sertad3
SERTA domain containing 3
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
G
Shkbp1
Sh3kbp1 binding protein 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
G
Slc25a35
solute carrier family 25, member 35
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160
G
Snora66
small nucleolar RNA, H/ACA box 66
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
NCBI chr14:1,844,373...1,844,504
Ensembl chr14:1,844,373...1,844,504
G
Snord118
small nucleolar RNA, C/D box 118
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
G
Snord21
small nucleolar RNA, C/D box 21
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227
G
Snrpa
small nuclear ribonucleoprotein polypeptide A
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
G
Sptbn4
spectrin, beta, non-erythrocytic 4
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
G
Supt5h
SPT5 homolog, DSIF elongation factor subunit
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
G
Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
G
Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532
NCBI chr X:141,792,589...141,795,257
G
Tgfb1
transforming growth factor, beta 1
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Timm50
translocase of inner mitochondrial membrane 50
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
G
Tmem145
transmembrane protein 145
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
G
Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
G
Tmem91
transmembrane protein 91
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:25741868 PMID:28492532 PMID:30146126 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
G
Ttc9b
tetratricopeptide repeat domain 9B
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
G
Vamp2
vesicle-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
G
Was
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
G
Zfp11
zinc finger protein 11
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
G
Zfp526
zinc finger protein 526
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
G
Zfp574
zinc finger protein 574
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
G
Znf780b
zinc finger protein 780B
ISO
ClinVar Annotator: match by term: Aase syndrome
ClinVar
PMID:28492532
NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
G
Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1
ClinVar
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 More...
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
G
Heatr3
HEAT repeat containing 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1
ClinVar
PMID:25741868 PMID:35213692
NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
G
Rpl5
ribosomal protein L5
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1
ClinVar
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:25741868 PMID:28492532 More...
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
G
Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1
OMIM ClinVar
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18412286 PMID:18768533 PMID:20378560 PMID:20395159 PMID:20606162 PMID:20960466 PMID:23812780 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25741868 PMID:27329125 PMID:28102861 PMID:28376382 PMID:28492532 PMID:31574871 PMID:33718801 More...
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
G
Ikzf4
IKAROS family zinc finger 4
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar
PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 PMID:28492532 More...
NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
G
Rps26
ribosomal protein S26
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22045982 PMID:22381658 PMID:22689679 PMID:23718193 PMID:23812780 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 More...
NCBI chr 7:1,057,332...1,058,882
G
Suox
sulfite oxidase
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar
PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532
NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
G
Rpl26
ribosomal protein L26
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 11
OMIM CTD ClinVar
PMID:22431104 PMID:25741868 PMID:28492532
NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
G
Nkiras1
NFKB inhibitor interacting Ras-like 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition
ClinVar
PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205
NCBI chr15:7,493,531...7,503,758
Ensembl chr15:7,493,531...7,503,854
G
Rpl15
ribosomal protein L15
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition
OMIM CTD ClinVar
PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205
NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165
G
Rps29
ribosomal protein S29
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 13
OMIM CTD ClinVar
PMID:24829207 PMID:25741868 PMID:28492532
NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
G
Tsr2
TSR2, ribosome maturation factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
OMIM CTD ClinVar
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
G
Rps26
ribosomal protein S26
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
ClinVar
PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 PMID:24942156 PMID:28492532 More...
NCBI chr 7:1,057,332...1,058,882
G
Rps28
ribosomal protein S28
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
OMIM CTD ClinVar
PMID:24942156 PMID:25741868
NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170 Ensembl chr16:14,607,801...14,609,170
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 chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
G
Rpl27
ribosomal protein L27
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 16
OMIM CTD ClinVar
PMID:25424902 PMID:25741868 PMID:28492532
NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193
G
Rps27
ribosomal protein S27
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 17
OMIM CTD ClinVar
PMID:25424902 PMID:25741868
NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
G
Rpl18
ribosomal protein L18
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 18
ClinVar OMIM
PMID:28280134
NCBI chr 1:96,188,811...96,191,452
Ensembl chr 1:96,188,112...96,191,452
G
Rpl35
ribosomal protein L35
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 19
ClinVar OMIM
PMID:28280134
NCBI chr 3:22,753,255...22,756,217
Ensembl chr 3:22,753,253...22,756,243
G
Rps15a
ribosomal protein S15a
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 20
ClinVar OMIM
PMID:27909223
NCBI chr 1:172,420,151...172,427,021
Ensembl chr 1:172,419,761...172,426,995
G
Heatr3
HEAT repeat containing 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 21
OMIM ClinVar
PMID:25741868 PMID:35213692
NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
G
Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar
PMID:25741868
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
G
Rps24
ribosomal protein S24
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 PMID:28492532 PMID:29748317 PMID:30228860 More...
NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
G
Rps17
ribosomal protein S17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 4
OMIM CTD ClinVar
PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868
NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
G
Iqcg
IQ motif containing G
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 PMID:32241839 More...
NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
G
Rpl35a
ribosomal protein L35A
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition CTD Direct Evidence: marker/mechanism DNA:deletions, duplication:multiple (human) DNA:deletions, snps:multiple (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 PMID:32241839 PMID:22689679 PMID:18535205 More...
RGD:11535072 , RGD:11535069
NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942 Ensembl chr 5:67,726,032...67,729,942
G
Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
ClinVar
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 More...
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
G
Rpl5
ribosomal protein L5
ISO ISS
OMIM:612561 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 DNA:mutations:multiple (human) DNA:snps, deletions, insertions:exons, introns:multiple (human) DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human) DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human) DNA:snps, duplication, deletions:exons:multiple (human)
OMIM MouseDO CTD ClinVar RGD
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 PMID:25946618 PMID:19061985 PMID:19773262 PMID:20378560 PMID:25132370 PMID:19191325 More...
RGD:11535969 , RGD:11535967 , RGD:11535132 , RGD:11535130 , RGD:11535128 , RGD:11535122
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
G
Rpl11
ribosomal protein L11
ISO ISS
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 OMIM:612562 CTD Direct Evidence: marker/mechanism DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human) DNA:mutations:multiple (human) DNA:deletions:exons:g.58_59delCT, g.460delA (human) DNA:deletions, snp:exons, introns:multiple (human) DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28492532 PMID:30503522 PMID:26489471 PMID:25946618 PMID:19061985 PMID:20378560 PMID:19773262 PMID:19191325 More...
RGD:11535971 , RGD:11535969 , RGD:11535967 , RGD:11535130 , RGD:11535132 , RGD:11535122
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
G
Adi1
acireductone dioxygenase 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar
PMID:28492532
NCBI chr 6:45,306,885...45,313,847
Ensembl chr 6:45,306,841...45,313,842
G
Colec11
collectin sub-family member 11
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar
PMID:28492532
NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
G
Rnaseh1
ribonuclease H1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar
PMID:28492532
NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
G
Rps7
ribosomal protein S7
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 PMID:25741868 PMID:25946618 PMID:27882484 PMID:28102861 PMID:28492532 PMID:32054657 PMID:36057918 More...
NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
G
Trappc12
trafficking protein particle complex subunit 12
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar
PMID:28492532
NCBI chr 6:45,321,496...45,386,967
Ensembl chr 6:45,321,497...45,386,952
G
Rps10
ribosomal protein S10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
OMIM CTD ClinVar
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 Ensembl chr 6:5,694,313...5,699,044
G
Rps10l6
ribosomal protein S10-like 6
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
ClinVar
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532
NCBI chr15:18,308,287...18,309,139
G
Epo
erythropoietin
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like
ClinVar OMIM
PMID:28283061
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like
ClinVar
PMID:28492532 PMID:29681510 PMID:34162668
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
G
Ace2
angiotensin converting enzyme 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
G
Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
G
Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
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:10383195 PMID:11050007 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15277238 PMID:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17703323 PMID:17924555 PMID:19557015 PMID:19714462 PMID:20301575 PMID:20509860 PMID:20869034 PMID:21279724 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:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:26990548 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:29641532 PMID:29654263 PMID:29753700 PMID:29905759 PMID:29922827 PMID:30031030 PMID:30322717 PMID:30541756 PMID:30613976 PMID:30630526 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31589614 PMID:31721781 PMID:31784482 PMID:31874108 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33084842 PMID:33471991 PMID:33780288 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:35264596 PMID:35739269 PMID:36315513 PMID:37349538 More...
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
G
Ap1s2
adaptor related protein complex 1 subunit sigma 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
G
Asb11
ankyrin repeat and SOCS box containing 11
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
G
Asb9
ankyrin repeat and SOCS box-containing 9
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105
G
Bmx
BMX non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
G
Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:mutation ClinVar Annotator: match by term: Fanconi anemia
ClinVar RGD
PMID:11030417 PMID:11185744 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:19620486 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:29625052 PMID:29753700 PMID:29884841 PMID:30254663 PMID:30702160 PMID:31090900 PMID:31131967 PMID:31911673 PMID:32398771 PMID:32467295 PMID:32719484 PMID:33087929 PMID:33273034 PMID:33471991 PMID:35464868 PMID:35736817 PMID:36329109 PMID:36451132 PMID:12065746 More...
RGD:734658
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
G
Brip1
BRCA1 interacting helicase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD ClinVar
PMID:2455662 PMID:3375802 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:32068069 PMID:32359370 PMID:32885271 PMID:33471991 PMID:34026625 PMID:34585738 PMID:36988593 More...
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
G
Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:17436244 PMID:28492532
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
G
C6h14orf28
similar to human chromosome 14 open reading frame 28
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
G
Car5b
carbonic anhydrase 5B
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
G
Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
G
Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
G
Cltrn
collectrin, amino acid transport regulator
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
G
Cpne7
copine 7
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
G
Dbndd1
dysbindin domain containing 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
G
Def8
differentially expressed in FDCP 8 homolog
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638
G
Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
G
Fanca
FA complementation group A
disease_progression
ISO
DNA:missense mutations, splice-site mutations:exon, intron:multiple ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia CTD Direct Evidence: marker/mechanism DNA:deletions, transitions:exon, intron:multiple
ClinVar CTD RGD
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:10862090 PMID:11050007 PMID:11063725 PMID:11091222 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:17327415 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:22482891 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24123366 PMID:24343878 PMID:24349332 PMID:24584348 PMID:24689079 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24824029 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25640679 PMID:25703136 PMID:25741868 PMID:25741905 PMID:25741916 PMID:25751062 PMID:25953249 PMID:26110843 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26201965 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27153395 PMID:27577878 PMID:27701467 PMID:27733357 PMID:27997549 PMID:28060124 PMID:28102861 PMID:28104920 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28259476 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28870985 PMID:28873162 PMID:28973083 PMID:28975465 PMID:29093742 PMID:29098741 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29338072 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29702541 PMID:29779353 PMID:29797310 PMID:29904161 PMID:29976742 PMID:30031030 PMID:30032139 PMID:30050716 PMID:30057198 PMID:30086788 PMID:30192042 PMID:30268473 PMID:30306255 PMID:30792206 PMID:30836094 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31192125 PMID:31248416 PMID:31259830 PMID:31395037 PMID:31432501 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31613886 PMID:31655866 PMID:31698007 PMID:31721781 PMID:32002546 PMID:32098966 PMID:32107087 PMID:32235514 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32793304 PMID:32799124 PMID:32850347 PMID:32903519 PMID:32947577 PMID:33020649 PMID:33088445 PMID:33172906 PMID:33224011 PMID:33224012 PMID:33314633 PMID:33332384 PMID:33482836 PMID:33556149 PMID:33558524 PMID:33679882 PMID:33686268 PMID:33718801 PMID:33762291 PMID:33883933 PMID:33960719 PMID:34008892 PMID:34130653 PMID:34173971 PMID:34250406 PMID:34308366 PMID:34422195 PMID:34426522 PMID:34512202 PMID:34573280 PMID:34585473 PMID:34598035 PMID:34741701 PMID:34754157 PMID:34864095 PMID:34902740 PMID:34906502 PMID:35348533 PMID:35655404 PMID:37349538 PMID:15523645 PMID:12827451 PMID:11110674 More...
RGD:11344899 , RGD:11344919 , RGD:11344914
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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 Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar
PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32410215 PMID:32546565 PMID:33558524 More...
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
G
Fancc
FA complementation group C
onset
ISO
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human) ClinVar Annotator: match by term: Fanconi anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia CTD Direct Evidence: marker/mechanism DNA:deletion: :322delG (human)
ClinVar CTD RGD
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:8734810 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:10383195 PMID:10666230 PMID:10994546 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15277238 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19622403 PMID:19714462 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22482891 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:25640679 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:26990548 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:28873162 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29641532 PMID:29643063 PMID:29654263 PMID:29719599 PMID:29753700 PMID:29767408 PMID:29905759 PMID:29922827 PMID:30031030 PMID:30093976 PMID:30306255 PMID:30322717 PMID:30541756 PMID:30613976 PMID:30630526 PMID:30676620 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31300551 PMID:31558676 PMID:31589614 PMID:31721781 PMID:31722815 PMID:31784482 PMID:31874108 PMID:32235514 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32566746 PMID:32570879 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33083949 PMID:33084842 PMID:33471991 PMID:33563768 PMID:33780288 PMID:34008892 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34308366 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:34761457 PMID:35264596 PMID:35739269 PMID:36315513 PMID:37349538 PMID:16429406 PMID:11110674 More...
RGD:11041907 , RGD:11344914
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Fancd2
FA complementation group D2
ISO
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 PMID:16280053 PMID:17096012 PMID:17308347 PMID:17436244 PMID:17576681 PMID:21356188 PMID:22720145 PMID:22828868 PMID:22829014 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24584348 PMID:24728327 PMID:25640679 PMID:25703294 PMID:25741868 PMID:25927356 PMID:26580448 PMID:26633542 PMID:26740942 PMID:27041517 PMID:27153395 PMID:27931139 PMID:28202063 PMID:28386063 PMID:28492532 PMID:28678401 PMID:29625052 PMID:29659569 PMID:30250602 PMID:30256826 PMID:30306255 PMID:30713837 PMID:30716324 PMID:31586946 PMID:32546565 PMID:32659967 PMID:33270637 PMID:33558524 PMID:34327028 PMID:34585473 PMID:11239453 PMID:19287902 More...
RGD:1601137 , RGD:11344904
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:23285130 PMID:24728327 PMID:25741868 PMID:25927356 PMID:28492532 PMID:29625052 PMID:30250602 PMID:30256826 PMID:31586946 PMID:32546565 PMID:33270637 PMID:34585473 More...
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
G
Fance
FA complementation group E
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11001585 PMID:17924555 PMID:24728327 PMID:25741868 PMID:28492532 PMID:32546565 PMID:33084842 PMID:33326660 More...
NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
G
Fancf
FA complementation group F
ISO
ClinVar Annotator: match by term: Fanconi anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:28687356 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31882575 PMID:34117267 More...
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
G
Fancg
FA complementation group G
ISO
FANCG, OMIM:602956 ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16621732 PMID:16643430 PMID:17010390 PMID:17576681 PMID:17924555 PMID:19102630 PMID:20301575 PMID:21659346 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24136620 PMID:24300640 PMID:24584348 PMID:24728327 PMID:24763404 PMID:24989076 PMID:25703136 PMID:25741868 PMID:26689913 PMID:26740942 PMID:26968956 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29154021 PMID:29905759 PMID:30031030 PMID:31558676 PMID:31839986 PMID:32546565 PMID:32947577 PMID:33563768 PMID:33718801 PMID:34422195 PMID:9806548 More...
RGD:1599879
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fanci
FA complementation group I
ISO
DNA:mutations: :multiple ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar RGD
PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17924555 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:21324748 PMID:22406018 PMID:22720145 PMID:23093618 PMID:23613520 PMID:23783014 PMID:24033266 PMID:24989076 PMID:25462018 PMID:25741868 PMID:25877891 PMID:25927356 PMID:26104464 PMID:26296701 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 PMID:28875981 PMID:28878254 PMID:29439820 PMID:29625052 PMID:29891941 PMID:30076350 PMID:30303537 PMID:30333958 PMID:30773290 PMID:30792206 PMID:31300551 PMID:31470354 PMID:32054657 PMID:32235514 PMID:32546565 PMID:33558524 PMID:34585473 PMID:34601666 PMID:34861889 PMID:36356413 PMID:36513378 PMID:26590883 More...
RGD:11344925
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Fancl
FA complementation group L
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
CTD ClinVar
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:22720145 PMID:23613520 PMID:24033266 PMID:24389026 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26740942 PMID:26822237 PMID:26822949 PMID:27041517 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29335925 PMID:29416752 PMID:29478780 PMID:29625052 PMID:30306255 PMID:30995915 PMID:31300551 PMID:31513304 PMID:31937788 PMID:31942411 PMID:31980526 PMID:32008151 PMID:32191290 PMID:32235514 PMID:32420600 PMID:32789750 PMID:33727708 PMID:34008892 PMID:34308104 PMID:34647594 PMID:35454841 More...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
G
Fancm
FA complementation group M
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
CTD ClinVar
PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 PMID:19379763 PMID:19737859 PMID:19763152 PMID:20307669 PMID:21681190 PMID:22347400 PMID:22406018 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25640679 PMID:25741868 PMID:26067930 PMID:26094658 PMID:26130695 PMID:26296701 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26822949 PMID:27626068 PMID:27713038 PMID:27854218 PMID:27913932 PMID:28033443 PMID:28492532 PMID:28591191 PMID:28678401 PMID:28702895 PMID:28715532 PMID:28717660 PMID:28837157 PMID:28837162 PMID:28881617 PMID:28975465 PMID:29217778 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29625052 PMID:29641532 PMID:29760528 PMID:29895858 PMID:30075111 PMID:30426508 PMID:30613976 PMID:30676620 PMID:30927251 PMID:30995915 PMID:31263571 PMID:31428572 PMID:31589614 PMID:31700994 PMID:31921681 PMID:31970404 PMID:31991861 PMID:32054657 PMID:32235514 PMID:32268276 PMID:32338768 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32868804 PMID:32906206 PMID:32994724 PMID:33099839 PMID:33118316 PMID:33163394 PMID:33471991 PMID:34117267 PMID:34174131 PMID:34326862 PMID:34598035 PMID:34646395 PMID:35495172 PMID:35877578 PMID:35929646 PMID:36315097 PMID:36534659 PMID:37316882 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
G
Flt3lg
Fms related receptor tyrosine kinase 3 ligand
ISO
protein:increased expression:serum,plasma:
RGD
PMID:7492765
RGD:11049505
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
G
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:82,527,849...82,530,641
G
Gas8
growth arrest specific 8
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
G
Gstm1
glutathione S-transferase mu 1
disease_progression
ISO
RGD
PMID:16173971
RGD:10450839
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
treatment
ISO
RGD
PMID:16173971
RGD:10450839
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Ifng
interferon gamma
ISO
protein:increased expression:plasma
RGD
PMID:24021704
RGD:11049161
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
ISO
protein:increased expression:plasma
RGD
PMID:24021704
RGD:11049161
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Klhl28
kelch-like family member 28
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
G
Mc1r
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:9721219 PMID:28492532 PMID:29098742
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
G
Mospd2
motile sperm domain containing 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398
G
Mx1
MX dynamin like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9389754
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
G
Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 PMID:25085752 PMID:25099575 PMID:25741868 PMID:26467025 PMID:26564480 PMID:28492532 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
G
Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
G
Pir
pirin
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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:15689359 PMID:16177225 PMID:16621917 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:22720145 PMID:23783014 PMID:24033266 PMID:24989076 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Prf1
perforin 1
ISO
RGD
PMID:21542827
RGD:6482802
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
G
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
G
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
G
Rad51c
RAD51 paralog C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia
CTD ClinVar
PMID:20400963 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:25085752 PMID:25086635 PMID:25470109 PMID:25741868 PMID:26057125 PMID:26261251 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26740214 PMID:27153395 PMID:28492532 PMID:32606146 More...
NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
G
Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
G
Slx4
SLX4 structure-specific endonuclease subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
CTD ClinVar
PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 PMID:21240275 PMID:21240276 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24037726 PMID:24733792 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26201965 PMID:26689913 PMID:26824983 PMID:27153395 PMID:27913932 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:29146900 PMID:29344583 PMID:29607586 PMID:29641532 PMID:29868112 PMID:29891941 PMID:29915322 PMID:30268473 PMID:30306255 PMID:30613976 PMID:30995915 PMID:31300551 PMID:31469826 PMID:32368696 PMID:32546565 PMID:33270637 PMID:33558524 PMID:33606809 PMID:36916425 More...
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
G
Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
G
Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
G
Spire2
spire-type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742
NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
G
Tcf25
transcription factor 25
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:9721219 PMID:28492532 PMID:29098742
NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22628295 PMID:8438880 PMID:24021704
RGD:10450524 , RGD:11049161
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
G
Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
G
Usp1
ubiquitin specific peptidase 1
ISS
MouseDO
NCBI chr 5:113,587,564...113,598,934
Ensembl chr 5:113,587,564...113,598,932
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Vegfd
vascular endothelial growth factor D
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:17436244 PMID:28492532
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
G
Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
G
Vrk2
VRK serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24389026 PMID:25741868 PMID:26149689 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 More...
NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527
G
Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Fanconi anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:12697994 PMID:15059067 PMID:15523645 PMID:15643609 PMID:16084127 PMID:16199547 PMID:17327415 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22178060 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:24793135 PMID:25640679 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27041517 PMID:27854218 PMID:28060124 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28873162 PMID:29098742 PMID:29779353 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30792206 PMID:30919572 PMID:31248416 PMID:31586946 PMID:31613886 PMID:31698007 PMID:32546565 PMID:33172906 PMID:33686268 PMID:33718801 PMID:34308366 PMID:34512202 PMID:34585473 PMID:37349538 More...
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
G
Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
G
Aopep
aminopeptidase O
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:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26740942 PMID:27153395 PMID:28125075 PMID:28492532 PMID:28767289 PMID:28775315 PMID:30541756 PMID:31133068 PMID:31784482 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:33471991 PMID:34117267 PMID:34426522 PMID:37349538 More...
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
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:17279547 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:23289006 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:29161300 PMID:29297111 PMID:29712865 PMID:30103829 PMID:30287823 PMID:30825404 PMID:31454914 PMID:31472684 PMID:31825140 PMID:32338768 PMID:33098347 PMID:33468216 PMID:33471991 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
G
Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
G
Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
G
Cpne7
copine 7
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
G
Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
G
Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
G
Fanca
FA complementation group A
ISO ISS
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A OMIM:227650
OMIM ClinVar MouseDO
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:16445838 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:21520333 PMID:21659346 PMID:22178060 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24349332 PMID:24584348 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25703136 PMID:25741868 PMID:25741905 PMID:25741913 PMID:25741916 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26201965 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27153395 PMID:27577878 PMID:27701467 PMID:27997549 PMID:28060124 PMID:28102861 PMID:28104920 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28259476 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:28973083 PMID:28975465 PMID:29093742 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29338072 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29904161 PMID:29976742 PMID:30031030 PMID:30032139 PMID:30057198 PMID:30086788 PMID:30268473 PMID:30306255 PMID:30792206 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31192125 PMID:31259830 PMID:31432501 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31655866 PMID:31698007 PMID:31721781 PMID:32002546 PMID:32107087 PMID:32235514 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32793304 PMID:32850347 PMID:32947577 PMID:33088445 PMID:33172906 PMID:33224011 PMID:33224012 PMID:33332384 PMID:33482836 PMID:33558524 PMID:33679882 PMID:33686268 PMID:33718801 PMID:33762291 PMID:33883933 PMID:34008892 PMID:34130653 PMID:34173971 PMID:34250406 PMID:34308366 PMID:34422195 PMID:34426522 PMID:34512202 PMID:34585473 PMID:34598035 PMID:34741701 PMID:34754157 PMID:34864095 PMID:34902740 PMID:34906502 PMID:35348533 PMID:35655404 PMID:37349538 More...
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
G
Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
G
Fancc
FA complementation group C
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:12670332 PMID:14726700 PMID:15695377 PMID:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26740942 PMID:27153395 PMID:28125075 PMID:28492532 PMID:28678401 PMID:28767289 PMID:28775315 PMID:30541756 PMID:31133068 PMID:31784482 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:33471991 PMID:34117267 PMID:34426522 PMID:37349538 More...
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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 chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:25927356 PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 More...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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:26822949 PMID:28033443 PMID:28492532 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29351780 PMID:30075111 PMID:30426508 PMID:31263571 PMID:31589614 PMID:31700994 PMID:32054657 PMID:32338768 PMID:33099839 PMID:33471991 PMID:34117267 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar
PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 PMID:26201965 PMID:28202063 PMID:28492532 PMID:30613976 PMID:32546565 PMID:33606809 More...
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
G
Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
G
Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
G
Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 More...
NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527
G
Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: FANCA-related condition | 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:17327415 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22178060 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:24793135 PMID:25168418 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27041517 PMID:28060124 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:29098742 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30792206 PMID:30919572 PMID:31586946 PMID:31698007 PMID:32546565 PMID:33172906 PMID:33686268 PMID:33718801 PMID:34308366 PMID:34512202 PMID:34585473 More...
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
G
Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25168418
NCBI chr19:50,282,337...50,324,010
G
Fancb
FA complementation group B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B
OMIM CTD ClinVar
PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 PMID:23613520 PMID:24033266 PMID:25168418 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32546565 More...
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
G
Aopep
aminopeptidase O
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:10383195 PMID:10431244 PMID:11050007 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15277238 PMID:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17924555 PMID:19278965 PMID:19714462 PMID:20301575 PMID:20509860 PMID:20869034 PMID:21279724 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:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:26990548 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:29654263 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30322717 PMID:30541756 PMID:30630526 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31589614 PMID:31721781 PMID:31784482 PMID:31874108 PMID:32496904 PMID:32546565 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33084842 PMID:33471991 PMID:33780288 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:35264596 PMID:35739269 PMID:36315513 PMID:37349538 More...
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
G
Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group C
ClinVar
PMID:25741868
NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
G
Fancc
FA complementation group C
ISO ISS
ClinVar Annotator: match by term: Fanconi anemia complementation group C OMIM:227645 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
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:8734810 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:10383195 PMID:10431244 PMID:10666230 PMID:10994546 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15277238 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19278965 PMID:19622403 PMID:19714462 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:23934222 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:26990548 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:28873162 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29641532 PMID:29643063 PMID:29654263 PMID:29719599 PMID:29753700 PMID:29767408 PMID:29922827 PMID:30031030 PMID:30306255 PMID:30322717 PMID:30541756 PMID:30630526 PMID:30676620 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31300551 PMID:31558676 PMID:31589614 PMID:31721781 PMID:31784482 PMID:31874108 PMID:32235514 PMID:32496904 PMID:32546565 PMID:32570879 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33083949 PMID:33084842 PMID:33471991 PMID:33563768 PMID:33780288 PMID:34008892 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34308366 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:34761457 PMID:34958143 PMID:35264596 PMID:35739269 PMID:36315513 PMID:37349538 More...
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Brca2
BRCA2, DNA repair associated
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM:605724
CTD ClinVar OMIM MouseDO
PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 PMID:1446381 PMID:1843150 PMID:1990134 PMID:2200631 PMID:2661312 PMID:2928257 PMID:3108138 PMID:4055113 PMID:7924331 PMID:8075631 PMID:8415037 PMID:8524414 PMID:8589730 PMID:8665505 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8758903 PMID:8840963 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8988179 PMID:9042907 PMID:9042909 PMID:9126734 PMID:9145676 PMID:9150150 PMID:9150152 PMID:9150153 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9536098 PMID:9585613 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:10464624 PMID:10486320 PMID:10498392 PMID:10551859 PMID:10570174 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10699917 PMID:10717622 PMID:10728701 PMID:10733239 PMID:10739756 PMID:10755399 PMID:10790213 PMID:10800284 PMID:10874312 PMID:10882858 PMID:10923033 PMID:10978364 PMID:11030417 PMID:11030418 PMID:11062481 PMID:11106241 PMID:11149425 PMID:11158174 PMID:11170890 PMID:11179017 PMID:11185744 PMID:11207042 PMID:11241844 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11447276 PMID:11466700 PMID:11504767 PMID:11556836 PMID:11595708 PMID:11597388 PMID:11698567 PMID:11754111 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11873550 PMID:11896095 PMID:11920621 PMID:11927503 PMID:11929857 PMID:11938448 PMID:11948123 PMID:11950811 PMID:12048272 PMID:12065746 PMID:12097290 PMID:12100744 PMID:12142080 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:12815053 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:15728167 PMID:15744044 PMID:15799620 PMID:15800311 PMID:15800615 PMID:15806175 PMID:15876480 PMID:15887246 PMID:15918047 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16030099 PMID:16047333 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16211554 PMID:16234499 PMID:16261408 PMID:16284991 PMID:16389418 PMID:16455195 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:16978908 PMID:17026620 PMID:17063265 PMID:17063270 PMID:17087817 PMID:17100994 PMID:17148771 PMID:17233897 PMID:17250666 PMID:17257844 PMID:17262179 PMID:17289875 PMID:17301269 PMID:17308087 PMID:17333343 PMID:17341484 PMID:17419707 PMID:17453335 PMID:17513806 PMID:17515903 PMID:17574839 PMID:17576681 PMID:17591843 PMID:17591940 PMID:17592676 PMID:17636422 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:18182994 PMID:18284688 PMID:18375895 PMID:18393245 PMID:18403564 PMID:18418466 PMID:18424508 PMID:18431501 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18559594 PMID:18593900 PMID:18607349 PMID:18627636 PMID:18627637 PMID:18693280 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18724707 PMID:18752448 PMID:18779604 PMID:18819001 PMID:18821011 PMID:18824701 PMID:18844490 PMID:18951449 PMID:18951461 PMID:19016756 PMID:19030985 PMID:19043619 PMID:19052777 PMID:19188187 PMID:19200354 PMID:19229607 PMID:19241424 PMID:19320659 PMID:19353265 PMID:19471317 PMID:19473207 PMID:19491284 PMID:19530235 PMID:19540122 PMID:19574032 PMID:19619314 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19656415 PMID:19747923 PMID:19795481 PMID:19796187 PMID:19799798 PMID:19861517 PMID:19863560 PMID:19912264 PMID:19941162 PMID:19941167 PMID:19967274 PMID:20020529 PMID:20033483 PMID:20041885 PMID:20054658 PMID:20104584 PMID:20127978 PMID:20135345 PMID:20167696 PMID:20195775 PMID:20215541 PMID:20216074 PMID:20301425 PMID:20373018 PMID:20380699 PMID:20589654 PMID:20608899 PMID:20614180 PMID:20616022 PMID:20683152 PMID:20694749 PMID:20736950 PMID:20807450 PMID:20858050 PMID:20887823 PMID:20927582 PMID:20960228 PMID:21063910 PMID:21120943 PMID:21147080 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:21523855 PMID:21548014 PMID:21559243 PMID:21598239 PMID:21638052 PMID:21643751 PMID:21671020 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21719596 PMID:21769658 PMID:21789034 PMID:21913181 PMID:21918853 PMID:21939546 PMID:21952622 PMID:21965345 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22034289 PMID:22085629 PMID:22109874 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:22527104 PMID:22535016 PMID:22632462 PMID:22638694 PMID:22655046 PMID:22666503 PMID:22678057 PMID:22682623 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:23028338 PMID:23035815 PMID:23071527 PMID:23096105 PMID:23096355 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 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:23725378 PMID:23729402 PMID:23747895 PMID:23767878 PMID:23884708 PMID:23885733 PMID:23893897 PMID:23929434 PMID:23940062 PMID:23942203 PMID:23960188 PMID:23961350 PMID:23977390 PMID:23983145 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24065114 PMID:24082139 PMID:24094589 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24212087 PMID:24249303 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24333842 PMID:24337145 PMID:24348212 PMID:24372583 PMID:24395671 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24578176 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25007954 PMID:25066507 PMID:25072261 PMID:25085752 PMID:25103822 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25203624 PMID:25233892 PMID:25236687 PMID:25256924 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25452441 PMID:25476495 PMID:25479140 PMID:25525159 PMID:25556971 PMID:25569433 PMID:25637381 PMID:25682074 PMID:25685387 PMID:25737278 PMID:25741868 PMID:25741916 PMID:25777348 PMID:25782689 PMID:25801821 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25896959 PMID:25927356 PMID:25948282 PMID:25980754 PMID:26022348 PMID:26026974 PMID:26046366 PMID:26064523 PMID:26067864 PMID:26155992 PMID:26183948 PMID:26187060 PMID:26207792 PMID:26219728 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26306726 PMID:26315209 PMID:26317927 PMID:26332594 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26440929 PMID:26455428 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26541979 PMID:26543556 PMID:26556299 PMID:26576347 PMID:26577449 PMID:26580448 PMID:26586665 PMID:26657402 PMID:26681312 PMID:26681682 PMID:26687385 PMID:26689913 PMID:26692440 PMID:26709275 PMID:26724258 PMID:26733283 PMID:26740091 PMID:26740942 PMID:26757417 PMID:26757435 PMID:26761715 PMID:26780556 PMID:26786923 PMID:26787237 PMID:26834852 PMID:26845104 PMID:26846091 PMID:26848529 PMID:26852015 PMID:26867194 PMID:26898890 PMID:26915939 PMID:26920070 PMID:26933808 PMID:26968956 PMID:27062684 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27208206 PMID:27257965 PMID:27273131 PMID:27376475 PMID:27383479 PMID:27393621 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27495310 PMID:27498913 PMID:27516001 PMID:27535533 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:27989354 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28132688 PMID:28135145 PMID:28152038 PMID:28176296 PMID:28179634 PMID:28195393 PMID:28222693 PMID:28231738 PMID:28243543 PMID:28263838 PMID:28281021 PMID:28283652 PMID:28288110 PMID:28294317 PMID:28301460 PMID:28324225 PMID:28338653 PMID:28339459 PMID:28346442 PMID:28349240 PMID:28364669 PMID:28422718 PMID:28423363 PMID:28435519 PMID:28439188 PMID:28477318 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28528518 PMID:28541631 PMID:28616458 PMID:28640387 PMID:28651617 PMID:28657667 PMID:28664449 PMID:28664506 PMID:28678401 PMID:28680148 PMID:28687971 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726806 PMID:28726808 PMID:28767289 PMID:28807866 PMID:28814288 PMID:28831036 PMID:28843361 PMID:28873162 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28944232 PMID:28961279 PMID:28973083 PMID:28975465 PMID:28993434 PMID:29021639 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29126202 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29215753 PMID:29236234 PMID:29240602 PMID:29288066 PMID:29302806 PMID:29310832 PMID:29321669 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29346284 PMID:29348823 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29394989 PMID:29416040 PMID:29433453 PMID:29435039 PMID:29439820 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29560538 PMID:29566657 PMID:29580235 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29667044 PMID:29681614 PMID:29731985 PMID:29750258 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29766361 PMID:29790872 PMID:29802286 PMID:29854292 PMID:29860059 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29937315 PMID:29961768 PMID:29978187 PMID:29988080 PMID:30014164 PMID:30040829 PMID:30055349 PMID:30078507 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30128899 PMID:30152102 PMID:30186769 PMID:30192042 PMID:30199306 PMID:30207912 PMID:30212499 PMID:30217213 PMID:30254663 PMID:30257646 PMID:30274973 PMID:30286154 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30400234 PMID:30415210 PMID:30472649 PMID:30489631 PMID:30541756 PMID:30548481 PMID:30555256 PMID:30606148 PMID:30611917 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30623411 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30715675 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30742731 PMID:30787465 PMID:30825404 PMID:30875412 PMID:30877237 PMID:30883245 PMID:30883759 PMID:30972954 PMID:30982232 PMID:31090900 PMID:31112341 PMID:31112363 PMID:31131559 PMID:31131967 PMID:31143303 PMID:31143373 PMID:31159747 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31248605 PMID:31263054 PMID:31263500 PMID:31263571 PMID:31294896 PMID:31331294 PMID:31336956 PMID:31343793 PMID:31360904 PMID:31372034 PMID:31396961 PMID:31409081 PMID:31411802 PMID:31422574 PMID:31432501 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31464824 PMID:31558676 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31721781 PMID:31742824 PMID:31782247 PMID:31794323 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31853058 PMID:31869745 PMID:31871109 PMID:31874108 PMID:31887429 PMID:31892343 PMID:31911673 PMID:31921681 PMID:31924417 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32022259 PMID:32029870 PMID:32039725 PMID:32046981 PMID:32058061 PMID:32068069 PMID:32091409 PMID:32098980 PMID:32101877 PMID:32123317 PMID:32132887 PMID:32164353 PMID:32190957 PMID:32256484 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32365798 PMID:32375709 PMID:32380732 PMID:32393398 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32455662 PMID:32467295 PMID:32486089 PMID:32521533 PMID:32532514 PMID:32581362 PMID:32606146 PMID:32659497 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32806537 PMID:32846166 PMID:32850417 PMID:32853339 PMID:32854451 PMID:32866190 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918181 PMID:32957395 PMID:32984025 PMID:33008098 PMID:33054725 PMID:33067490 PMID:33077847 PMID:33078592 PMID:33084842 PMID:33087929 PMID:33113089 PMID:33287145 PMID:33293522 PMID:33302456 PMID:33309985 PMID:33314489 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33526602 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33643918 PMID:33731496 PMID:33773534 PMID:33773808 PMID:33868589 PMID:33891299 PMID:33918338 PMID:33964450 PMID:33970096 PMID:33978741 PMID:34008015 PMID:34072659 PMID:34101484 PMID:34178674 PMID:34196900 PMID:34218100 PMID:34250417 PMID:34308104 PMID:34308366 PMID:34309133 PMID:34316023 PMID:34326862 PMID:34399810 PMID:34413315 PMID:34500047 PMID:34503154 PMID:34567246 PMID:34572941 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34660253 PMID:34687993 PMID:34697207 PMID:34741701 PMID:35205313 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35365640 PMID:35451682 PMID:35464868 PMID:35535697 PMID:35641994 PMID:35736817 PMID:35753294 PMID:35864222 PMID:35918668 PMID:35979650 PMID:36140756 PMID:36169650 PMID:36292577 PMID:36315513 PMID:36329109 PMID:36370215 PMID:36451132 PMID:36988593 PMID:36998040 PMID:37344829 PMID:37349538 PMID:37461096 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
G
Fancd2
FA complementation group D2
ISO ISS
ClinVar Annotator: match by term: Fanconi anemia complementation group D2 OMIM:227646 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 PMID:17436244 PMID:17576681 PMID:21356188 PMID:22720145 PMID:22828868 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25168418 PMID:25703294 PMID:25741868 PMID:25927356 PMID:26580448 PMID:26633542 PMID:27041517 PMID:27931139 PMID:28202063 PMID:28386063 PMID:28492532 PMID:28678401 PMID:29625052 PMID:29659569 PMID:30256826 PMID:30306255 PMID:30716324 PMID:31586946 PMID:32546565 PMID:32581362 PMID:32659967 PMID:32867815 PMID:33558524 PMID:34327028 PMID:34585473 More...
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group D2
ClinVar
PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:23285130 PMID:23613520 PMID:24728327 PMID:25741868 PMID:25927356 PMID:28492532 PMID:29625052 PMID:30256826 PMID:31586946 PMID:32546565 PMID:32581362 PMID:34585473 More...
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
G
Fance
FA complementation group E
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group E CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:21279724 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25058500 PMID:25741868 PMID:26689913 PMID:26822949 PMID:27165003 PMID:27913932 PMID:28492532 PMID:29625052 PMID:30609409 PMID:31102422 PMID:32487094 PMID:32546565 PMID:32947577 PMID:33084842 PMID:33270637 PMID:33326660 PMID:34687117 PMID:35295078 PMID:36463940 More...
NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
G
Fancf
FA complementation group F
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group F CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:28687356 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31288759 PMID:31882575 PMID:34117267 More...
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group G CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16621732 PMID:16643430 PMID:17010390 PMID:17576681 PMID:17924555 PMID:19102630 PMID:20301575 PMID:21659346 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24136620 PMID:24300640 PMID:24584348 PMID:24728327 PMID:24763404 PMID:25703136 PMID:25741868 PMID:26689913 PMID:26740942 PMID:26968956 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29905759 PMID:30031030 PMID:31558676 PMID:31839986 PMID:32546565 PMID:32947577 PMID:33718801 PMID:34422195 More...
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group G
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group I CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple
OMIM ClinVar CTD RGD
PMID:9536098 PMID:16199547 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:25877891 PMID:26296701 PMID:26467025 PMID:26590883 PMID:27987238 PMID:28492532 PMID:28678401 PMID:28875981 PMID:28878254 PMID:29439820 PMID:30076350 PMID:30303537 PMID:30333958 PMID:30773290 PMID:30792206 PMID:31300551 PMID:32054657 PMID:32546565 PMID:33558524 PMID:34861889 PMID:36356413 PMID:36513378 PMID:17452773 More...
RGD:11344924
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Brip1
BRCA1 interacting helicase 1
susceptibility
ISO
DNA:nonsense mutation:cds:p.R798* (human) ClinVar Annotator: match by term: Fanconi anemia complementation group J CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 PMID:14983014 PMID:15285897 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16116426 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:20173781 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:25807282 PMID:25846551 PMID:25980754 PMID:25981591 PMID:26206375 PMID:26207792 PMID:26264438 PMID:26296696 PMID:26315354 PMID:26416542 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: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:28873162 PMID:28888541 PMID:28911102 PMID:28991257 PMID:29053726 PMID:29263802 PMID:29335925 PMID:29338689 PMID:29360161 PMID:29368626 PMID:29470806 PMID:29478780 PMID:29596542 PMID:29625052 PMID:29636988 PMID:29641532 PMID:29667044 PMID:29752822 PMID:29788478 PMID:29922827 PMID:29929473 PMID:29958926 PMID:29961768 PMID:30086788 PMID:30093976 PMID:30130155 PMID:30154229 PMID:30230034 PMID:30254378 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:30612635 PMID:30613976 PMID:30651582 PMID:30680046 PMID:30716324 PMID:30728895 PMID:30833958 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31265121 PMID:31300551 PMID:31325073 PMID:31341520 PMID:31366178 PMID:31422574 PMID:31512090 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31742824 PMID:31786208 PMID:31794323 PMID:31822495 PMID:31843900 PMID:31844177 PMID:31871109 PMID:31882575 PMID:31980526 PMID:32019284 PMID:32068069 PMID:32091409 PMID:32231423 PMID:32242007 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32318955 PMID:32359370 PMID:32371905 PMID:32426482 PMID:32427313 PMID:32522261 PMID:32542039 PMID:32566746 PMID:32658311 PMID:32659497 PMID:32830346 PMID:32832836 PMID:32866190 PMID:32885271 PMID:32959997 PMID:32980694 PMID:32986223 PMID:33028645 PMID:33115781 PMID:33120919 PMID:33134171 PMID:33224012 PMID:33309985 PMID:33313162 PMID:33359728 PMID:33471991 PMID:33546375 PMID:33552952 PMID:33606809 PMID:33619228 PMID:33646313 PMID:33804961 PMID:33840814 PMID:33842585 PMID:33910496 PMID:33980423 PMID:34011307 PMID:34026625 PMID:34072463 PMID:34204722 PMID:34284872 PMID:34326862 PMID:34503154 PMID:34570441 PMID:34585473 PMID:34585738 PMID:34607609 PMID:34646395 PMID:34887416 PMID:35022142 PMID:35118230 PMID:35127508 PMID:35171259 PMID:35186721 PMID:35205822 PMID:35263119 PMID:35264596 PMID:35467778 PMID:35534704 PMID:35734982 PMID:35739278 PMID:35957908 PMID:35986085 PMID:36011273 PMID:36035419 PMID:36243179 PMID:36315513 PMID:36338706 PMID:36627197 PMID:36845387 PMID:36896836 PMID:36988593 PMID:26968956 More...
RGD:11251781
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
G
Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group L CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:24389026 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26740942 PMID:26822237 PMID:26822949 PMID:27041517 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29335925 PMID:29416752 PMID:29478780 PMID:29625052 PMID:30306255 PMID:30995915 PMID:31300551 PMID:31513304 PMID:31937788 PMID:31942411 PMID:31980526 PMID:32191290 PMID:32235514 PMID:32420600 PMID:32789750 PMID:33727708 PMID:34008892 PMID:34308104 PMID:35454841 More...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 More...
NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Fanconi anemia, complementation group M
ClinVar
PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 PMID:33471991 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Palb2
partner and localizer of BRCA2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia complementation group N
CTD OMIM ClinVar
PMID:100849 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:23561644 PMID:23787919 PMID:23824750 PMID:23935381 PMID:23935836 PMID:23977390 PMID:24033266 PMID:24061862 PMID:24136930 PMID:24141787 PMID:24206657 PMID:24415441 PMID:24448499 PMID:24549055 PMID:24556926 PMID:24728327 PMID:24763289 PMID:24870022 PMID:24949998 PMID:25085752 PMID:25099575 PMID:25117502 PMID:25186627 PMID:25225577 PMID:25330149 PMID:25356972 PMID:25428789 PMID:25447460 PMID:25452441 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25575445 PMID:25583207 PMID:25666743 PMID:25741868 PMID:25794774 PMID:25959805 PMID:25980754 PMID:26023681 PMID:26083025 PMID:26094658 PMID:26270727 PMID:26283626 PMID:26296701 PMID:26315354 PMID:26411315 PMID:26467025 PMID:26485759 PMID:26489409 PMID:26534844 PMID:26564480 PMID:26580448 PMID:26641009 PMID:26649820 PMID:26681312 PMID:26689913 PMID:26692951 PMID:26720728 PMID:26740942 PMID:26786923 PMID:26845104 PMID:26878173 PMID:26898890 PMID:26976419 PMID:26990772 PMID:27038244 PMID:27067391 PMID:27099641 PMID:27106063 PMID:27153395 PMID:27328445 PMID:27356891 PMID:27397723 PMID:27433846 PMID:27449771 PMID:27553368 PMID:27573125 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27624329 PMID:27701467 PMID:27783279 PMID:27798748 PMID:27829436 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28135048 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:28528518 PMID:28580595 PMID:28664506 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28794409 PMID:28796317 PMID:28825143 PMID:28828701 PMID:28864920 PMID:28873162 PMID:28944238 PMID:29052111 PMID:29093764 PMID:29190888 PMID:29263802 PMID:29338689 PMID:29360161 PMID:29368341 PMID:29431189 PMID:29470806 PMID:29478780 PMID:29506128 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29667044 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29802286 PMID:29909963 PMID:29915322 PMID:29945567 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113427 PMID:30128536 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30322717 PMID:30337689 PMID:30521987 PMID:30541756 PMID:30638972 PMID:30651582 PMID:30665703 PMID:30680046 PMID:30720863 PMID:30833416 PMID:30883245 PMID:30890586 PMID:30982232 PMID:30995915 PMID:31054147 PMID:31089269 PMID:31090900 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31312277 PMID:31422574 PMID:31428572 PMID:31428676 PMID:31446535 PMID:31447099 PMID:31451522 PMID:31467304 PMID:31512090 PMID:31570822 PMID:31575519 PMID:31586400 PMID:31589614 PMID:31619740 PMID:31636395 PMID:31642931 PMID:31721781 PMID:31742824 PMID:31757951 PMID:31768816 PMID:31786208 PMID:31841383 PMID:31843900 PMID:31844177 PMID:31871297 PMID:32012241 PMID:32019277 PMID:32048105 PMID:32068069 PMID:32081490 PMID:32295079 PMID:32338768 PMID:32339256 PMID:32426482 PMID:32427313 PMID:32531196 PMID:32546565 PMID:32554798 PMID:32566746 PMID:32581362 PMID:32658311 PMID:32830346 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32868316 PMID:32885271 PMID:32980694 PMID:32997802 PMID:33169439 PMID:33193564 PMID:33195396 PMID:33309985 PMID:33320972 PMID:33471991 PMID:33512806 PMID:33558524 PMID:33630411 PMID:33674644 PMID:33811135 PMID:33917078 PMID:33964450 PMID:33980423 PMID:34034685 PMID:34113003 PMID:34284872 PMID:34426522 PMID:34439348 PMID:34478935 PMID:34608183 PMID:34687117 PMID:35089076 PMID:35263119 PMID:35264596 PMID:35402282 PMID:35610400 PMID:35626031 PMID:35806449 PMID:36605468 PMID:36988593 PMID:37013556 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
G
Hsf5
heat shock transcription factor 5
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406
G
Mtmr4
myotubularin related protein 4
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
G
Rad51c
RAD51 paralog C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition
CTD OMIM ClinVar
PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 PMID:5806449 PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 PMID:15170666 PMID:15336628 PMID:16199547 PMID:17576681 PMID:18203022 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20400963 PMID:20400964 PMID:20428093 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:23176254 PMID:23438602 PMID:23500037 PMID:23704328 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:25085752 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:26534844 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:27498913 PMID:27616075 PMID:27621404 PMID:27622768 PMID:27852271 PMID:27854218 PMID:27878467 PMID:27908594 PMID:27913932 PMID:27978560 PMID:28123851 PMID:28125075 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:28888541 PMID:28905878 PMID:28975465 PMID:29020732 PMID:29053726 PMID:29054568 PMID:29158291 PMID:29255180 PMID:29263802 PMID:29278735 PMID:29360161 PMID:29409816 PMID:29416752 PMID:29458332 PMID:29470806 PMID:29484706 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29752822 PMID:29758562 PMID:29785153 PMID:29858219 PMID:29922827 PMID:29978187 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30216591 PMID:30256826 PMID:30257646 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30426508 PMID:30515680 PMID:30551670 PMID:30613976 PMID:30680046 PMID:30847381 PMID:30875412 PMID:30924587 PMID:30927251 PMID:30949688 PMID:30982232 PMID:30995915 PMID:31125277 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31300551 PMID:31422574 PMID:31446535 PMID:31567591 PMID:31642931 PMID:31742824 PMID:31782267 PMID:31815095 PMID:31843900 PMID:31874108 PMID:31882575 PMID:31921681 PMID:32054657 PMID:32068069 PMID:32107557 PMID:32242007 PMID:32295079 PMID:32295625 PMID:32338768 PMID:32359370 PMID:32398771 PMID:32427313 PMID:32566746 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32809180 PMID:32832836 PMID:32854451 PMID:32866190 PMID:32868316 PMID:32885271 PMID:32957588 PMID:32980694 PMID:32986223 PMID:33008098 PMID:33011440 PMID:33047316 PMID:33077847 PMID:33134171 PMID:33194656 PMID:33258288 PMID:33277227 PMID:33309985 PMID:33326660 PMID:33333735 PMID:33359728 PMID:33471991 PMID:33552952 PMID:33563768 PMID:33606809 PMID:33646313 PMID:33858678 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34426522 PMID:34570441 PMID:34606182 PMID:34923718 PMID:35014770 PMID:35039523 PMID:35039564 PMID:35127508 PMID:35186721 PMID:35264596 PMID:35565380 PMID:35740625 PMID:35806449 PMID:36099300 PMID:36243179 PMID:36293153 PMID:36329109 PMID:36562461 PMID:36909564 PMID:36977404 PMID:36988593 PMID:37065479 PMID:37253112 More...
NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
G
Rnf43
ring finger protein 43
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
G
Septin4
septin 4
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
G
Tex14
testis expressed 14, intercellular bridge forming factor
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
G
Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group P CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25741868 PMID:26201965 PMID:26824983 PMID:27153395 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:29146900 PMID:29344583 PMID:29607586 PMID:29641532 PMID:29868112 PMID:29891941 PMID:30268473 PMID:30306255 PMID:30613976 PMID:30995915 PMID:31300551 PMID:31469826 PMID:32368696 PMID:32546565 PMID:33270637 PMID:33558524 PMID:36916425 More...
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group Q CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 PMID:16550608 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623386 PMID:23623389 PMID:24033266 PMID:24465539 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:28292785 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:30658521 PMID:31692161 PMID:32008151 PMID:32487094 PMID:32659497 PMID:32756499 PMID:34117267 PMID:35171259 More...
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
G
Rad51
RAD51 recombinase
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group R CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308
NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
G
Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S
OMIM ClinVar
PMID:1514655 PMID:2618727 PMID:3347199 PMID:7493024 PMID:7545954 PMID:7663517 PMID:7795652 PMID:7837387 PMID:7894491 PMID:7894492 PMID:7894493 PMID:8531967 PMID:8554067 PMID:8595428 PMID:8606385 PMID:8644702 PMID:8644703 PMID:8807330 PMID:8833256 PMID:8841191 PMID:8968102 PMID:9042909 PMID:9063749 PMID:9145676 PMID:9150153 PMID:9150154 PMID:9159158 PMID:9452076 PMID:9482581 PMID:9525870 PMID:9544766 PMID:9634504 PMID:9663595 PMID:9667259 PMID:9760198 PMID:9805131 PMID:9836472 PMID:10090881 PMID:10196379 PMID:10359546 PMID:10447273 PMID:10464624 PMID:10464631 PMID:10486320 PMID:10505028 PMID:10615237 PMID:10739756 PMID:10788334 PMID:10811118 PMID:10866029 PMID:10885601 PMID:11102977 PMID:11102986 PMID:11157798 PMID:11179017 PMID:11251181 PMID:11260866 PMID:11278247 PMID:11320250 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11410501 PMID:11466700 PMID:11504767 PMID:11597388 PMID:11606101 PMID:11668617 PMID:11739404 PMID:11748305 PMID:11773283 PMID:11802209 PMID:11896095 PMID:11920621 PMID:11956590 PMID:12097257 PMID:12125210 PMID:12181777 PMID:12204006 PMID:12354934 PMID:12360400 PMID:12393792 PMID:12400015 PMID:12402332 PMID:12496476 PMID:12566964 PMID:12601471 PMID:12698193 PMID:12732733 PMID:12752644 PMID:12771565 PMID:12810666 PMID:12827452 PMID:12938098 PMID:12955716 PMID:14517958 PMID:14534301 PMID:14555511 PMID:14576434 PMID:14729053 PMID:14760071 PMID:14986830 PMID:15004537 PMID:15024741 PMID:15133502 PMID:15133503 PMID:15145354 PMID:15146557 PMID:15172985 PMID:15235020 PMID:15290653 PMID:15350310 PMID:15365993 PMID:15383404 PMID:15569676 PMID:15726418 PMID:15876480 PMID:15951956 PMID:15955237 PMID:15994883 PMID:16014699 PMID:16030426 PMID:16162645 PMID:16168118 PMID:16227521 PMID:16234499 PMID:16267036 PMID:16284991 PMID:16403807 PMID:16455195 PMID:16489001 PMID:16528604 PMID:16541315 PMID:16644204 PMID:16683254 PMID:16905680 PMID:16998791 PMID:17279547 PMID:17305420 PMID:17307836 PMID:17308087 PMID:17341484 PMID:17369502 PMID:17574969 PMID:17585057 PMID:17591843 PMID:17645508 PMID:17688236 PMID:17922257 PMID:17924331 PMID:18036263 PMID:18159056 PMID:18243530 PMID:18284688 PMID:18285836 PMID:18334730 PMID:18375895 PMID:18413725 PMID:18431737 PMID:18446624 PMID:18465347 PMID:18627636 PMID:18680205 PMID:18694767 PMID:18762988 PMID:18763032 PMID:18783588 PMID:18824701 PMID:18940477 PMID:19200354 PMID:19208665 PMID:19340607 PMID:19359128 PMID:19543972 PMID:19563646 PMID:19594371 PMID:19661094 PMID:19770520 PMID:19941162 PMID:19949876 PMID:19996028 PMID:20103620 PMID:20104584 PMID:20180014 PMID:20301425 PMID:20345474 PMID:20373018 PMID:20378548 PMID:20455026 PMID:20507347 PMID:20516115 PMID:20569256 PMID:20665887 PMID:20683152 PMID:20727672 PMID:20730485 PMID:20807450 PMID:21119707 PMID:21147080 PMID:21232165 PMID:21324516 PMID:21348412 PMID:21356067 PMID:21371001 PMID:21447777 PMID:21473589 PMID:21503673 PMID:21520273 PMID:21523855 PMID:21643751 PMID:21702907 PMID:21708019 PMID:21709188 PMID:21725363 PMID:21735045 PMID:21834074 PMID:21922593 PMID:21946536 PMID:21965345 PMID:21989927 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22010008 PMID:22032251 PMID:22034289 PMID:22136207 PMID:22160602 PMID:22172724 PMID:22185575 PMID:22430266 PMID:22476429 PMID:22505045 PMID:22516946 PMID:22535016 PMID:22666503 PMID:22703879 PMID:22711857 PMID:22713736 PMID:22753008 PMID:22776961 PMID:22798144 PMID:22811390 PMID:22843421 PMID:22889855 PMID:23110154 PMID:23161852 PMID:23164213 PMID:23192404 PMID:23199084 PMID:23231788 PMID:23232912 PMID:23239986 PMID:23249957 PMID:23269703 PMID:23289006 PMID:23458327 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23580280 PMID:23613828 PMID:23633455 PMID:23683081 PMID:23695190 PMID:23704984 PMID:23725378 PMID:23747895 PMID:23867111 PMID:23954390 PMID:24033266 PMID:24055113 PMID:24131973 PMID:24240112 PMID:24249303 PMID:24285858 PMID:24307375 PMID:24312913 PMID:24319668 PMID:24333842 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24549055 PMID:24569164 PMID:24667779 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24825132 PMID:24845084 PMID:24884479 PMID:25066507 PMID:25085752 PMID:25085762 PMID:25186627 PMID:25256238 PMID:25330149 PMID:25371446 PMID:25400221 PMID:25418591 PMID:25428789 PMID:25452441 PMID:25472942 PMID:25525159 PMID:25556971 PMID:25637381 PMID:25652403 PMID:25682074 PMID:25716084 PMID:25741868 PMID:25748678 PMID:25782689 PMID:25823446 PMID:25863477 PMID:25948282 PMID:25971625 PMID:25980754 PMID:26023681 PMID:26026974 PMID:26028024 PMID:26083025 PMID:26187060 PMID:26219728 PMID:26236408 PMID:26246475 PMID:26287763 PMID:26295337 PMID:26350514 PMID:26430151 PMID:26440929 PMID:26467025 PMID:26541979 PMID:26556299 PMID:26666763 PMID:26681312 PMID:26689913 PMID:26718727 PMID:26727311 PMID:26777316 PMID:26786923 PMID:26843898 PMID:26845104 PMID:26852130 PMID:26884819 PMID:26913838 PMID:27062684 PMID:27083775 PMID:27153395 PMID:27257965 PMID:27272900 PMID:27425403 PMID:27433846 PMID:27495310 PMID:27553291 PMID:27741520 PMID:27760710 PMID:27836010 PMID:27914478 PMID:27978560 PMID:27989354 PMID:28049106 PMID:28091860 PMID:28111427 PMID:28122244 PMID:28145423 PMID:28152038 PMID:28176296 PMID:28265380 PMID:28281021 PMID:28283652 PMID:28285342 PMID:28324225 PMID:28398198 PMID:28423363 PMID:28477318 PMID:28478614 PMID:28490613 PMID:28492532 PMID:28503720 PMID:28525389 PMID:28528518 PMID:28569743 PMID:28724667 PMID:28726806 PMID:28781887 PMID:28831036 PMID:28888541 PMID:28993434 PMID:29021639 PMID:29061375 PMID:29116469 PMID:29133208 PMID:29161300 PMID:29280214 PMID:29297111 PMID:29310832 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29360161 PMID:29433453 PMID:29435075 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29486991 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29684080 PMID:29712865 PMID:29758562 PMID:29790872 PMID:29797126 PMID:29884841 PMID:29901183 PMID:29907814 PMID:29922827 PMID:29936259 PMID:29961768 PMID:29998185 PMID:30055521 PMID:30067863 PMID:30078507 PMID:30093976 PMID:30103829 PMID:30113427 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30191368 PMID:30209399 PMID:30219179 PMID:30257991 PMID:30287823 PMID:30322717 PMID:30333958 PMID:30458859 PMID:30480775 PMID:30489631 PMID:30606148 PMID:30613976 PMID:30646163 PMID:30676620 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30765603 PMID:30825404 PMID:30875412 PMID:30962250 PMID:30975216 PMID:31065452 PMID:31090900 PMID:31131967 PMID:31159747 PMID:31209999 PMID:31214711 PMID:31263571 PMID:31325073 PMID:31341520 PMID:31347298 PMID:31360904 PMID:31368036 PMID:31407530 PMID:31447099 PMID:31454914 PMID:31472684 PMID:31528241 PMID:31616044 PMID:31639439 PMID:31742824 PMID:31825140 PMID:31851867 PMID:31853058 PMID:31871297 PMID:32039725 PMID:32058061 PMID:32123317 PMID:32152249 PMID:32295079 PMID:32338768 PMID:32341426 PMID:32371905 PMID:32438681 PMID:32486089 PMID:32614418 PMID:32658311 PMID:32699032 PMID:32719484 PMID:32741062 PMID:32782288 PMID:32843487 PMID:32854451 PMID:32856869 PMID:32885271 PMID:33087888 PMID:33098347 PMID:33309985 PMID:33314633 PMID:33449224 PMID:33468216 PMID:33471991 PMID:33477375 PMID:33484353 PMID:33507482 PMID:33558524 PMID:33606809 PMID:33646313 PMID:33674644 PMID:33758026 PMID:34413315 PMID:34657373 PMID:34981296 PMID:35039564 PMID:35196514 PMID:35377489 PMID:35409996 PMID:35464868 PMID:35578052 PMID:35918668 PMID:36003761 PMID:36329109 PMID:36612302 PMID:36753473 PMID:36927983 PMID:36988593 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
G
Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group T
ClinVar
PMID:26046368
NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
G
Ube2t
ubiquitin-conjugating enzyme E2T
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia complementation group T
OMIM CTD ClinVar
PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532
NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835
G
Xrcc2
X-ray repair cross complementing 2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group U CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 PMID:23383274 PMID:25637381 PMID:25741868 PMID:25741916 PMID:25918678 PMID:26046366 PMID:26467025 PMID:26689913 PMID:26787654 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 PMID:28767289 PMID:28779002 PMID:28864920 PMID:30306255 PMID:32832836 PMID:32860008 PMID:33471991 More...
NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
G
Mad2l2
mitotic arrest deficient 2 like 2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group V CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:27500492
NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
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:28492532 PMID:28691929 PMID:33044890
NCBI chr19:39,235,883...39,268,479
Ensembl chr19:39,236,787...39,268,479
G
Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM CTD ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
G
Slc11a2
solute carrier family 11 member 2
ISO
ClinVar Annotator: match by term: SLC11A2-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35457224
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
G
Pus1
pseudouridine synthase 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar MouseDO
PMID:25741868 PMID:28492532
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
G
Yars2
tyrosyl-tRNA synthetase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
G
Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition
OMIM ClinVar
PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 PMID:15971356 PMID:17056637 PMID:17576681 PMID:18648068 PMID:19731322 PMID:23707380 PMID:25058219 PMID:25227147 PMID:25741868 PMID:26556812 PMID:27374853 PMID:28492532 More...
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
G
Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
G
Yars2
tyrosyl-tRNA synthetase 2
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:25638461 PMID:25741868 PMID:26633545 PMID:26944241 PMID:28492532 PMID:30026338 PMID:33144682 PMID:35393742 More...
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
G
Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3
ClinVar
PMID:25037980 PMID:27812026 PMID:29350304
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
G
Hamp
hepcidin antimicrobial peptide
IEP
mRNA:increased expression:liver
RGD
PMID:25580431
RGD:11041717
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human)
RGD
PMID:18689790
RGD:11041748
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human)
RGD
PMID:18689790
RGD:11041748
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Abcb7
ATP binding cassette subfamily B member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16892088 PMID:18637800 PMID:18398482
RGD:11038732
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
G
Alad
aminolevulinate dehydratase
ISO
protein:decreased activity:kidney, liver, spleen
RGD
PMID:5891055
RGD:12904678
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
Alas2
5'-aminolevulinate synthase 2
susceptibility
ISO
DNA:transversion:cds:p.F165L (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16716198 PMID:16892088 PMID:7949148
RGD:1599037
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
G
Calr
calreticulin
ISO
DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)
RGD
PMID:24325359
RGD:11352763
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
G
Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19036111
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
G
Glrx5
glutaredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18637800
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
G
Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
G
Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia
ClinVar
PMID:9389715 PMID:32906214
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
G
Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
G
Slc25a38
solute carrier family 25, member 38
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412178
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16910769 PMID:21326867
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Tfrc
transferrin receptor
ISO
mRNA,protein:increased expression:erythroblast:
RGD
PMID:21326867
RGD:11062136
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Alas2
5'-aminolevulinate synthase 2
onset
ISO
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R452H, R452C, K156E(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) DNA:mutations:exons:p.K299Q,A172T(human)
OMIM ClinVar CTD RGD
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:32297424 PMID:35093382 PMID:21252495 PMID:11110715 PMID:7560104 More...
RGD:11035244 , RGD:11035243 , RGD:11035241
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
G
Apex2
apurinic/apyrimidinic endodeoxyribonuclease 2
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar
NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
G
Slc25a38
solute carrier family 25, member 38
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
G
Hscb
HscB mitochondrial iron-sulfur cluster co-chaperone
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 5
OMIM ClinVar
PMID:32634119
NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
G
Trnt1
tRNA nucleotidyl transferase 1
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:29610179 PMID:30758723 PMID:31019026 PMID:31338833 PMID:31664448 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33646446 PMID:33936027 PMID:34510712 More...
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
G
Abcb7
ATP binding cassette subfamily B member 7
susceptibility
ISO
DNA:missense mutation: :p.I400M (human) ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.V411L (1299G>C) (human) DNA:missense mutation:exon:p.E433K (1305G>A) (human)
ClinVar CTD OMIM RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 PMID:17576681 PMID:21326867 PMID:22398176 PMID:25741868 PMID:28492532 PMID:10196363 PMID:11843825 PMID:11050011 More...
RGD:1598600 , RGD:11038735 , RGD:11038734
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
G
Alas2
5'-aminolevulinate synthase 2
ISO
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all