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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormality of multiple cell lineages in the bone marrow
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Accession:HP:0012145 term browser browse the term
Synonyms:xref: UMLS:C4023024


show annotations for term's descendants           Sort by:
Abnormality of multiple cell lineages in the bone marrow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:67044 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G PRF1 perforin 1 IAGP HPO ORPHA:540 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G STX11 syntaxin 11 IAGP HPO ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO ORPHA:540 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
Aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO MIM:616553 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP DNA:nonsense mutation:cds:p.R798* RGD PMID:26968956 RGD:11251781 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G CD27 CD27 molecule IAGP HPO MIM:615122 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G FANCB FA complementation group B IAGP HPO MIM:300514 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO MIM:614172 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925 		JBrowse link
G HOXA11 homeobox A11 IAGP HPO MIM:605432 NCBI chr 7:27,181,157...27,185,232
Ensembl chr 7:27,181,157...27,185,232 		JBrowse link
G IFNG interferon gamma IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
HPO		 PMID:25741868 MIM:609135 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC110806306 telomerase RNA component (TERC) promoter IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 3:169,764,689...169,765,858 JBrowse link
G LOC126860438 MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:9590180 PMID:16199547 PMID:16415040 PMID:23555315 PMID:24763289 More... NCBI chr 8:89,947,754...89,948,953 JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
HPO		 PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 More... MIM:609135 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO MIM:224230 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO MIM:224230 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO MIM:610832 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PRF1 perforin 1 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
HPO		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... MIM:609135 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
HPO		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... MIM:609135 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO MIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197 		JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371 		JBrowse link
G SRP72 signal recognition particle 72 IAGP HPO MIM:614675 NCBI chr 4:56,467,617...56,503,681
Ensembl chr 4:56,467,617...56,503,681 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TERC telomerase RNA component IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
HPO		 PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... MIM:127550 MIM:614743 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
HPO		 PMID:12167716 PMID:15814878 PMID:15885610 PMID:16247010 PMID:16627250 More... MIM:127550 MIM:609135 MIM:613989 MIM:614742 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:620481 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
HPO		 PMID:20301779 MIM:127550 MIM:268130 MIM:613990 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:300635 MIM:308240 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
Bone marrow hypercellularity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO MIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:520 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP HPO MIM:193670 ORPHA:51636 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP HPO ORPHA:520 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382 		JBrowse link
G HFE homeostatic iron regulator no_association
susceptibility		 IAGP DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945)
DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562)		 RGD PMID:19258483 PMID:19258483 RGD:10755491, RGD:10755491 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:520 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP HPO ORPHA:520 NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:520 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP HPO ORPHA:520 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G PML PML nuclear body scaffold IAGP HPO ORPHA:520 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:520 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G RARA retinoic acid receptor alpha IAGP HPO ORPHA:520 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643 		JBrowse link
G RPS14 ribosomal protein S14 IAGP HPO ORPHA:86841 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP HPO MIM:616937 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:520 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO ORPHA:520 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:520 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:824 ORPHA:98849 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO ORPHA:520 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		JBrowse link
Bone marrow hypocellularity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO MIM:616553 ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide IAGP HPO MIM:619151 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:605724 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO MIM:609054 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:166600 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO MIM:612199 ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G DCC DCC netrin 1 receptor IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO MIM:620133 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar
HPO		 PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 More... MIM:616871 NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:301108 MIM:305000 ORPHA:1775 ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:615272 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar
HPO		 PMID:25741868 PMID:29987015 MIM:615715 NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154 		JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCF FA complementation group F IAGP HPO MIM:603467 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCI FA complementation group I IAGP HPO MIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO MIM:614083 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:11137992 PMID:11295725 PMID:20650610 PMID:23534934 PMID:25546394 More... NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO MIM:300835 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 ORPHA:98827 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:609135 ORPHA:88 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase IAGP HPO MIM:243500 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO MIM:617243 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		JBrowse link
G MDM4 MDM4 regulator of p53 IAGP HPO MIM:618849 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO MIM:618116 ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G NBN nibrin IAGP HPO MIM:609135 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO MIM:224230 MIM:613987 ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO MIM:224230 ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO MIM:616353 ORPHA:1775 ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PRF1 perforin 1 IAGP HPO MIM:609135 ORPHA:88 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO MIM:617244 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RPA1 replication protein A1 IAGP HPO MIM:619767 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO MIM:614900 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPS14 ribosomal protein S14 IAGP HPO ORPHA:86841 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739 		JBrowse link
G RPS26 ribosomal protein S26 IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO MIM:615190 ORPHA:1775 ORPHA:3322 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:619041 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:609135 ORPHA:811 ORPHA:88 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SLC30A7 solute carrier family 30 member 7 IAGP HPO MIM:620501 NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,981,757 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SRP72 signal recognition particle 72 IAGP HPO MIM:614675 NCBI chr 4:56,467,617...56,503,681
Ensembl chr 4:56,467,617...56,503,681 		JBrowse link
G STN1 STN1 subunit of CST complex IAGP HPO MIM:617341 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO MIM:231095 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TERC telomerase RNA component IAGP HPO MIM:127550 MIM:614743 ORPHA:1775 ORPHA:88 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:127550 MIM:609135 MIM:613989 MIM:614742 ORPHA:1775 ORPHA:3322 ORPHA:88 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 ORPHA:98826 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:131300 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:620481 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO MIM:127550 MIM:268130 MIM:613990 ORPHA:1775 ORPHA:3322 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO MIM:616435 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO MIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:614378 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO MIM:613988 ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G ZCCHC8 zinc finger CCHC-type containing 8 IAGP HPO MIM:618674 NCBI chr12:122,471,600...122,500,932
Ensembl chr12:122,471,600...122,500,932 		JBrowse link
Megaloblastic bone marrow term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMADHC metabolism of cobalamin associated D IAGP HPO ORPHA:79283 NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP HPO MIM:620603 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G TCN2 transcobalamin 2 IAGP HPO MIM:275350 ORPHA:859 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271 		JBrowse link
Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALR calreticulin IAGP HPO MIM:254450 ORPHA:3318 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP HPO MIM:187900 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G HFE homeostatic iron regulator no_association
susceptibility		 IAGP DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945)
DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562)		 RGD PMID:19258483 PMID:19258483 RGD:10755491, RGD:10755491 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G JAK2 Janus kinase 2 IAGP DNA:missense mutation:cds:p.V617F (human) HPO
RGD		 PMID:23845539 MIM:254450 ORPHA:3318 ORPHA:729, RGD:10449376 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b IAGP HPO MIM:617441 NCBI chr 6:31,720,296...31,726,714
Ensembl chr 6:31,718,594...31,726,714 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO MIM:254450 ORPHA:3318 ORPHA:729 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO MIM:139090 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO MIM:254450 ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO MIM:607721 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP HPO MIM:616937 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G TBXAS1 thromboxane A synthase 1 IAGP HPO MIM:231095 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:3318 ORPHA:729 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:3318 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Pancytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO MIM:616553 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ALPK1 alpha kinase 1 IAGP HPO MIM:614979 NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621 		JBrowse link
G AMN amnion associated transmembrane protein IAGP HPO ORPHA:35858 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:98850 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G BACH2 BTB domain and CNC homolog 2 IAGP HPO MIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:520 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:824 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:98850 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CD27 CD27 molecule IAGP HPO MIM:615122 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO ORPHA:572 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO MIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12673791 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CUBN cubilin IAGP HPO ORPHA:35858 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP HPO MIM:620133 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G DHFR dihydrofolate reductase IAGP HPO MIM:613839 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:260400 MIM:617052 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP HPO MIM:619858 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO MIM:620331 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673 		JBrowse link
G DUT deoxyuridine triphosphatase IAGP HPO MIM:620044 NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:25741868 PMID:29987015 NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154 		JBrowse link
G FANCA FA complementation group A IAGP HPO MIM:227650 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO MIM:600901 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP HPO MIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP HPO ORPHA:520 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:11137992 PMID:11295725 PMID:20650610 PMID:23534934 PMID:25546394 More... NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO MIM:614038 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:230800 MIM:231000 MIM:231005 ORPHA:2072 ORPHA:77259 ORPHA:77261 ORPHA:85212 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO MIM:618398 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO MIM:181000 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:618963 ORPHA:88 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO MIM:616873 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:520 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO MIM:613385 ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G ITK IL2 inducible T cell kinase IAGP HPO MIM:613011 NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase IAGP HPO MIM:243500 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:824 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:614470 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:606593 ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO MIM:277380 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LOC129930561 ATAC-STARR-seq lymphoblastoid silent region 902 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:7711730 PMID:9600456 PMID:10090476 PMID:12410208 PMID:12673791 More... NCBI chr 1:53,196,808...53,197,167 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO ORPHA:167 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 ORPHA:309288 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MMAA metabolism of cobalamin associated A IAGP HPO MIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
G MMAB metabolism of cobalamin associated B IAGP HPO MIM:251110 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO MIM:604498 ORPHA:824 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 IAGP HPO MIM:617872 NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP HPO MIM:617780 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP HPO ORPHA:520 NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO MIM:224230 MIM:613987 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP HPO MIM:616050 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO MIM:224230 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:520 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:614470 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP HPO ORPHA:520 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO MIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO MIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PML PML nuclear body scaffold IAGP HPO ORPHA:520 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G PRF1 perforin 1 IAGP HPO MIM:603553 ORPHA:88 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:520 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO MIM:604416 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP HPO MIM:619924 NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP HPO ORPHA:79477 NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP HPO MIM:618986 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO MIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901 		JBrowse link
G RARA retinoic acid receptor alpha IAGP HPO ORPHA:520 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643 		JBrowse link
G RFX5 regulatory factor X5 IAGP HPO ORPHA:572 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO ORPHA:572 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO ORPHA:572 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO MIM:610333 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RPA1 replication protein A1 IAGP HPO MIM:619767 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar
HPO		 PMID:25741868 PMID:31064749 ORPHA:98850 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G RUNX1-AS1 RUNX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:25741868 PMID:31064749 NCBI chr21:34,836,313...34,885,052
Ensembl chr21:34,836,286...34,884,882 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:619041 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:159550 ORPHA:2585 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SARS2 seryl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:613845 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 ORPHA:811 ORPHA:88 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SH2D1A SH2 domain containing 1A IAGP HPO MIM:308240 NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO ORPHA:90045 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO MIM:613951 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO MIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Low blood cell count ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SP110 SP110 nuclear body protein IAGP HPO ORPHA:79124 NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SRP72 signal recognition particle 72 IAGP HPO MIM:614675 NCBI chr 4:56,467,617...56,503,681
Ensembl chr 4:56,467,617...56,503,681 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98850 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:520 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO ORPHA:520 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STN1 STN1 subunit of CST complex IAGP HPO MIM:617341 NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332 		JBrowse link
G TALDO1 transaldolase 1 IAGP HPO MIM:606003 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:520 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TCF3 transcription factor 3 IAGP HPO MIM:619824 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO MIM:259700 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCN2 transcobalamin 2 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar
HPO		 PMID:7980584 PMID:16199547 PMID:20352340 PMID:28492532 MIM:275350 ORPHA:859 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271 		JBrowse link
G TERC telomerase RNA component IAGP HPO MIM:614743 ORPHA:88 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:613989 MIM:614742 ORPHA:88 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 ORPHA:824 ORPHA:98850 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G THPO thrombopoietin IAGP HPO MIM:620481 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO MIM:613990 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP HPO MIM:615593 NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 IAGP HPO MIM:620282 NCBI chr 1:7,915,871...7,940,839
Ensembl chr 1:7,915,871...7,943,165 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO MIM:259710 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Pancytopenia ClinVar PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO MIM:616435 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G UNC13D unc-13 homolog D susceptibility IAGP DNA:deletions, insertion, snps:exons, intron:multiple RGD PMID:14622600 RGD:1600451 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO MIM:613988 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO MIM:300635 MIM:308240 ORPHA:538934 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO ORPHA:520 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of blood and blood-forming tissues 5983
        Abnormal bone marrow cell morphology 249
          Abnormality of multiple cell lineages in the bone marrow 197
            Bone marrow hypercellularity 29
            Bone marrow hypocellularity 74
            Megaloblastic bone marrow 4
            Myelofibrosis 14
            Pancytopenia + 146
paths to the root