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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:Internal hemorrhage
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Accession:HP:0011029 term browser browse the term
Definition:The presence of hemorrhage within the body.
Synonyms:exact_synonym: Internal bleeding;   Internal haemorrhage
 xref: UMLS:C1390214



show annotations for term's descendants           Sort by:
Internal hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234
JBrowse link
G CD46 CD46 molecule IAGP HPO ORPHA:244242 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFH complement factor H IAGP HPO ORPHA:244242 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFI complement factor I IAGP HPO ORPHA:244242 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP HPO ORPHA:244242 Ensembl chr12:102,197,585...102,402,596 JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:90308 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
Antenatal intracerebral hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:2177 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
Antepartum hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X IAGP HPO ORPHA:328 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
Cerebellar hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003
JBrowse link
G APP amyloid beta precursor protein IAGP HPO MIM:605714 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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 MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
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
Cerebral hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:177850 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:182410 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G APP amyloid beta precursor protein IAGP HPO ORPHA:100006 ORPHA:324703 ORPHA:324708 ORPHA:324713 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077
JBrowse link
G CCM2 CCM2 scaffold protein IAGP HPO MIM:603284 ORPHA:221061 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G CD46 CD46 molecule IAGP HPO ORPHA:244242 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFH complement factor H IAGP HPO ORPHA:244242 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFI complement factor I IAGP HPO ORPHA:244242 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Hemorrhagic stroke ClinVar PMID:28492532 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G COL4A2-AS1 COL4A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hemorrhagic stroke ClinVar PMID:28492532 NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
JBrowse link
G CST3 cystatin C IAGP HPO MIM:105150 ORPHA:100008 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G ENG endoglin IAGP HPO MIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G EPOR erythropoietin receptor IAGP HPO MIM:133100 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO MIM:616682 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G F11 coagulation factor XI IAGP ClinVar Annotator: match by term: Intracerebral hemorrhage ClinVar PMID:23929304 PMID:27067486 PMID:28492532 PMID:34776502 NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO ORPHA:331 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F13B coagulation factor XIII B chain IAGP HPO ORPHA:331 NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP HPO ORPHA:3002 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
G FGA fibrinogen alpha chain IAGP HPO ORPHA:98880 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
JBrowse link
G FGB fibrinogen beta chain IAGP HPO ORPHA:98880 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP HPO ORPHA:98880 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G FLNA filamin A IAGP HPO MIM:300049 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:84090 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G GALE UDP-galactose-4-epimerase IAGP HPO MIM:620776 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781
JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO MIM:277450 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP HPO MIM:620300 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP HPO ORPHA:244242 Ensembl chr12:102,197,585...102,402,596 JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:301081 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:133100 MIM:263300 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP HPO ORPHA:221061 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LMOD2 leiomodin 2 IAGP HPO MIM:619897 NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290
JBrowse link
G MAX MYC associated factor X IAGP HPO MIM:171300 ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G PDCD10 programmed cell death 10 IAGP HPO MIM:603285 ORPHA:221061 NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:221061 ORPHA:2495 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PROS1 protein S IAGP HPO MIM:614514 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:171300 ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO MIM:133100 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:2495 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO ORPHA:542310 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
JBrowse link
G STAT2 signal transducer and activator of transcription 2 IAGP HPO MIM:618886 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:2495 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO MIM:171300 ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP HPO MIM:617397 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:171300 MIM:263400 ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255
JBrowse link
Choroid hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RANBP2 RAN binding protein 2 IAGP HPO ORPHA:88619 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
JBrowse link
Diffuse alveolar hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:130050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO ORPHA:199241 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO MIM:614034 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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 1:234,602,300...234,610,178
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 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 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 PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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 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 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
Epidural hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G FGA fibrinogen alpha chain IAGP HPO MIM:202400 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
JBrowse link
G FGB fibrinogen beta chain IAGP HPO MIM:202400 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP HPO MIM:202400 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G SERPINE1 serpin family E member 1 IAGP HPO ORPHA:465 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
Fetal intraventricular hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHPS deoxyhypusine synthase IAGP HPO MIM:618480 NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880
JBrowse link
Gastrointestinal hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:177850 MIM:264800 ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP HPO ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO MIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:873 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G APOLD1 apolipoprotein L domain containing 1 IAGP HPO MIM:620715 NCBI chr12:12,725,917...12,791,466
Ensembl chr12:12,725,917...12,829,975
JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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 ATM ATM serine/threonine kinase IAGP HPO ORPHA:440437 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:440437 ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:440437 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CALR calreticulin IAGP HPO ORPHA:131 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CASP10 caspase 10 IAGP HPO MIM:603909 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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 CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CD109 CD109 molecule IAGP HPO ORPHA:853 NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:440437 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:873 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
JBrowse link
G ENG endoglin IAGP HPO MIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:144 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
JBrowse link
G EPHB2 EPH receptor B2 IAGP HPO MIM:618462 NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G F10 coagulation factor X IAGP HPO ORPHA:328 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G F11 coagulation factor XI IAGP HPO ORPHA:329 NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO MIM:613679 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:131 ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F7 coagulation factor VII IAGP HPO ORPHA:327 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G F9 coagulation factor IX IAGP HPO MIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459
JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO MIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP HPO ORPHA:3002 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
G FGA fibrinogen alpha chain IAGP HPO ORPHA:101041 ORPHA:98881 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
JBrowse link
G FGB fibrinogen beta chain IAGP HPO ORPHA:101041 ORPHA:98881 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP HPO ORPHA:101041 ORPHA:98881 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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 GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO MIM:231200 ORPHA:274 ORPHA:853 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO MIM:231200 ORPHA:274 ORPHA:567 ORPHA:853 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO MIM:231200 ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 ORPHA:36426 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 IAGP HPO ORPHA:79301 NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO ORPHA:36426 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966
JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP HPO ORPHA:853 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 ORPHA:849 ORPHA:853 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:849 ORPHA:853 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:263300 ORPHA:131 ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:44890 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:144 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP HPO ORPHA:35909 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO ORPHA:2924 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP HPO ORPHA:35909 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:117 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MLH1 mutL homolog 1 IAGP HPO ORPHA:144 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
JBrowse link
G MPI mannose phosphate isomerase IAGP HPO ORPHA:79319 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219
JBrowse link
G MSH2 mutS homolog 2 IAGP HPO ORPHA:144 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MSH6 mutS homolog 6 IAGP HPO ORPHA:144 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO ORPHA:440437 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:543 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO ORPHA:33226 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:44890 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:144 ORPHA:90308 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO MIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO ORPHA:144 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO ORPHA:440437 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G POT1 protection of telomeres 1 IAGP HPO MIM:620368 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II IAGP HPO ORPHA:2924 NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968
JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G RHBDF2 rhomboid 5 homolog 2 IAGP HPO ORPHA:2198 NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790
JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:440437 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO ORPHA:98850 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:44890 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:44890 ORPHA:97286 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:44890 ORPHA:97286 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:97286 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator IAGP HPO ORPHA:2924 NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208
JBrowse link
G SEMA4A semaphorin 4A IAGP HPO ORPHA:440437 NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
JBrowse link
G SERPINE1 serpin family E member 1 IAGP ClinVar Annotator: match by term: Gastrointestinal hemorrhage ClinVar
HPO
PMID:25741868 ORPHA:465 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247598 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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 STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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 TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98850 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:144 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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 TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO MIM:142680 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TNXB tenascin XB IAGP HPO ORPHA:230839 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:192315 ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:538 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
G VWF von Willebrand factor IAGP HPO MIM:193400 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
JBrowse link
Grade I preterm intraventricular hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEMA6B semaphorin 6B IAGP ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage ClinVar PMID:31474318 NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776
JBrowse link
Hematemesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:100075 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G ENG endoglin IAGP HPO MIM:187300 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G F8 coagulation factor VIII IAGP HPO MIM:306700 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G F9 coagulation factor IX IAGP HPO MIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459
JBrowse link
G FGA fibrinogen alpha chain IAGP HPO MIM:202400 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
JBrowse link
G FGB fibrinogen beta chain IAGP HPO MIM:202400 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP HPO MIM:202400 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:274 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
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 MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO MIM:263200 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
Hematochezia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO MIM:214950 ORPHA:79095 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
JBrowse link
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO MIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO MIM:174900 ORPHA:157794 ORPHA:329971 ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Hematochezia ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP ClinVar Annotator: match by term: Recurrent rectal bleeding ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:613812 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G ENG endoglin IAGP HPO MIM:187300 ORPHA:329971 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Hematochezia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist IAGP HPO ORPHA:157794 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106
JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO MIM:203300 NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963
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 IL10RA interleukin 10 receptor subunit alpha IAGP HPO MIM:613148 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037
JBrowse link
G PLVAP plasmalemma vesicle associated protein IAGP HPO MIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO MIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:174900 MIM:175050 ORPHA:329971 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO MIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO MIM:243150 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
Hemorrhage of the eye term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH7 atonal bHLH transcription factor 7 IAGP HPO ORPHA:91495 NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113
JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP HPO ORPHA:3002 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO ORPHA:91495 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:91495 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
Hyphema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH7 atonal bHLH transcription factor 7 IAGP HPO MIM:221900 NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113
JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
Intestinal bleeding term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:261584 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO MIM:612199 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO MIM:175200 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TEK TEK receptor tyrosine kinase IAGP HPO MIM:600195 ORPHA:1059 NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
Intracranial hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G ANGPTL6 angiopoietin like 6 IAGP HPO ORPHA:231160 NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO MIM:309400 ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP HPO ORPHA:369929 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CD109 CD109 molecule IAGP HPO ORPHA:853 NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
JBrowse link
G CLCN2 chloride voltage-gated channel 2 IAGP HPO ORPHA:404 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:231160 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Intracranial hemorrhage ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP HPO MIM:614483 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G CST3 cystatin C IAGP HPO MIM:105150 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:403 ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP HPO ORPHA:403 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 IAGP HPO ORPHA:398189 NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
JBrowse link
G ENG endoglin IAGP HPO ORPHA:231160 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G F10 coagulation factor X IAGP HPO MIM:227600 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO MIM:613225 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO ORPHA:325 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F7 coagulation factor VII IAGP HPO MIM:227500 ORPHA:327 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO ORPHA:228423 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 ORPHA:85212 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO ORPHA:624 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:853 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:853 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP HPO ORPHA:853 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 ORPHA:853 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:853 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:251274 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP HPO MIM:116860 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP HPO ORPHA:35909 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:363618 ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP HPO ORPHA:35909 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855
JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Intracranial hemorrhage ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:109 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:617053 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
G SERPINE1 serpin family E member 1 IAGP HPO ORPHA:465 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF2 serpin family F member 2 IAGP HPO ORPHA:79 NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP HPO ORPHA:231160 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO ORPHA:231160 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO MIM:614424 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Intraventricular hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP HPO MIM:610042 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Intraventricular hemorrhage ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Intraventricular hemorrhage ClinVar PMID:25741868 PMID:33527515 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G COL4A2-AS1 COL4A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Intraventricular hemorrhage ClinVar PMID:25741868 PMID:33527515 NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO ORPHA:79284 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:616430 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395
JBrowse link
G NFIA nuclear factor I A IAGP HPO ORPHA:401986 NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP HPO MIM:619055 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956
JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO MIM:616507 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
Joint hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F10 coagulation factor X IAGP HPO MIM:227600 ORPHA:328 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G F11 coagulation factor XI IAGP HPO ORPHA:329 NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO MIM:613225 ORPHA:331 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
JBrowse link
G F13B coagulation factor XIII B chain IAGP HPO ORPHA:331 NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO MIM:613679 ORPHA:325 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G F7 coagulation factor VII IAGP HPO MIM:227500 ORPHA:327 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
JBrowse link
G F8 coagulation factor VIII IAGP HPO MIM:306700 ORPHA:169802 ORPHA:169805 ORPHA:177926 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G F9 coagulation factor IX IAGP HPO MIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO MIM:277450 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP HPO ORPHA:35909 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP HPO ORPHA:35909 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855
JBrowse link
G PLAU plasminogen activator, urokinase IAGP HPO MIM:601709 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G SERPINE1 serpin family E member 1 IAGP HPO ORPHA:465 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SERPINF2 serpin family F member 2 IAGP HPO MIM:262850 ORPHA:79 NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
JBrowse link
G VWF von Willebrand factor IAGP HPO MIM:193400 MIM:277480 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:313900 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
Macular hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP HPO MIM:603075 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G CFH complement factor H IAGP HPO ORPHA:75376 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFHR1 complement factor H related 1 IAGP HPO MIM:603075 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
JBrowse link
G CFHR3 complement factor H related 3 IAGP HPO MIM:603075 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
JBrowse link
G CFI complement factor I IAGP HPO ORPHA:75376 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO ORPHA:75376 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G HMCN1 hemicentin 1 IAGP HPO MIM:603075 NCBI chr 1:185,734,391...186,190,949
Ensembl chr 1:185,734,391...186,190,949
JBrowse link
Melena term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:619182 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:100075 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:79076 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
JBrowse link
G CD109 CD109 molecule IAGP HPO ORPHA:853 NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G ENG endoglin IAGP HPO MIM:187300 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G F8 coagulation factor VIII IAGP HPO MIM:306700 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G F9 coagulation factor IX IAGP HPO MIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459
JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO MIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:853 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:853 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP HPO ORPHA:853 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:853 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:853 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G KIF23 kinesin family member 23 IAGP HPO ORPHA:98870 NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:79076 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RACGAP1 Rac GTPase activating protein 1 IAGP HPO ORPHA:98870 NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO MIM:158310 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO MIM:301000 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
Muscle hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII IAGP HPO MIM:306700 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
Preterm intraventricular hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP ClinVar Annotator: match by term: Preterm intraventricular hemorrhage ClinVar PMID:25741868 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
JBrowse link
Pulmonary hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPA COPI coat complex subunit alpha IAGP HPO MIM:616414 NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G ENG endoglin IAGP HPO MIM:187300 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO MIM:603585 ORPHA:238459 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336
JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO MIM:222700 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
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 ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO MIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
JBrowse link
Recurrent cerebral hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein IAGP HPO MIM:605714 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
Recurrent intrapulmonary hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:130050 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
Retinal hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:177850 MIM:264800 ORPHA:51608 ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 MIM:180000 MIM:611773 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:615368 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G DST dystonin IAGP HPO MIM:614653 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G F2 coagulation factor II, thrombin no_association IAGP DNA:SNP: :20210G>A RGD PMID:14994919 RGD:7394774 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
JBrowse link
G F5 coagulation factor V onset IAGP DNA:missense mutation:cds:1691G>A RGD PMID:16113792 RGD:7394778 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 RGD PMID:8932997 RGD:7483573 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:88 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO MIM:609049 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP DNA:SNP:promoter:-1306C>T (rs243865) RGD PMID:23791966 RGD:8657048 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO ORPHA:33226 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
JBrowse link
G PRF1 perforin 1 IAGP HPO ORPHA:88 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:88 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:deletion:promoter:g.-676_-674delG RGD PMID:16244763 RGD:8547742 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G TERC telomerase RNA component IAGP HPO 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 ORPHA:88 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:192315 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
JBrowse link
Subarachnoid hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ANGPTL6 angiopoietin like 6 IAGP HPO ORPHA:231160 NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678
JBrowse link
G APP amyloid beta precursor protein IAGP HPO MIM:605714 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
JBrowse link
G CD109 CD109 molecule IAGP HPO ORPHA:853 NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:231160 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP HPO MIM:243700 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
JBrowse link
G ELN elastin IAGP HPO ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENG endoglin IAGP HPO MIM:187300 ORPHA:231160 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
JBrowse link
G F10 coagulation factor X IAGP HPO ORPHA:328 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:91387 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G GAA alpha glucosidase IAGP HPO MIM:232300 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:853 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:853 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP HPO ORPHA:853 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:853 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:853 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
JBrowse link
G LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438
JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:185070 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP HPO ORPHA:231160 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO MIM:618734 ORPHA:231160 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383
JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255
JBrowse link
Subconjunctival hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP HPO MIM:617718 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
JBrowse link
Subdural hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G DNM2 dynamin 2 IAGP HPO MIM:615368 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940
JBrowse link
G FGA fibrinogen alpha chain IAGP HPO MIM:202400 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
JBrowse link
G FGB fibrinogen beta chain IAGP HPO MIM:202400 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
JBrowse link
G FGG fibrinogen gamma chain IAGP HPO MIM:202400 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO MIM:231670 ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO MIM:273800 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO MIM:311900 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP HPO MIM:619714 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215
JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255
JBrowse link
Subretinal hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion, haplotype:: RGD PMID:28221473 RGD:12792224
Subretinal pigment epithelium hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO ORPHA:357074 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:357074 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO ORPHA:357074 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
JBrowse link
Vitreous hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del RGD PMID:11106834 RGD:7829783 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:39044 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BEST1 bestrophin 1 IAGP HPO MIM:193220 NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
JBrowse link
G CAPN5 calpain 5 IAGP HPO MIM:193235 NCBI chr11:77,066,971...77,126,155
Ensembl chr11:77,066,961...77,126,155
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:891 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 IAGP HPO ORPHA:39044 NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO MIM:133780 ORPHA:891 ORPHA:90050 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:39044 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO ORPHA:39044 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO MIM:133780 MIM:601813 ORPHA:891 ORPHA:90050 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:891 ORPHA:90050 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP HPO MIM:612304 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO MIM:180200 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RS1 retinoschisin 1 IAGP HPO MIM:312700 ORPHA:792 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:39044 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G SMC5 structural maintenance of chromosomes 5 IAGP HPO MIM:620185 NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873
JBrowse link
G TSPAN12 tetraspanin 12 IAGP HPO ORPHA:891 NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO ORPHA:891 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of blood and blood-forming tissues 3783
        Abnormal bleeding 620
          Internal hemorrhage 364
            Antepartum hemorrhage 1
            Gastrointestinal hemorrhage + 166
            Hemorrhage of the eye + 60
            Intracranial hemorrhage + 177
            Joint hemorrhage 17
            Muscle hemorrhage 1
            Pulmonary hemorrhage + 31
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the cardiovascular system 5823
        Abnormal cardiovascular system physiology 3109
          Abnormality of blood circulation 388
            Internal hemorrhage 364
              Antepartum hemorrhage 1
              Gastrointestinal hemorrhage + 166
              Hemorrhage of the eye + 60
              Intracranial hemorrhage + 177
              Joint hemorrhage 17
              Muscle hemorrhage 1
              Pulmonary hemorrhage + 31
paths to the root