Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Abnormal homeostasis
go back to main search page
Accession:HP:0012337 term browser browse the term
Definition:An anomaly in the processes involved in the maintenance of an internal equilibrium.
Synonyms:xref: MP:0001764 "Abnormal homeostasis";   UMLS:C4022950


show annotations for term's descendants           Sort by:
Abnormal blood glucose concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT2 alanine--glyoxylate aminotransferase 2 IAGP DNA:SNP:exon:V498L (rs16899974) (human) RGD PMID:33879046 RGD:329961321 NCBI chr 5:34,998,102...35,047,949
Ensembl chr 5:34,998,101...35,048,135 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity IAGP DNA:SNP:intron:g.+781C>T RGD PMID:24609754 RGD:150520201 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO MIM:616521 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 susceptibility IAGP DNA:SNP:intron: (rs9369640) RGD PMID:25738804 RGD:11052994 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
Abnormal glucose homeostasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 no_association IAGP DNA:missense mutation:cds:p.W64R (rs4994)
DNA:polymorphism: :p.W64R		 RGD PMID:10582543 PMID:16634992 PMID:10421225 RGD:5684421, RGD:2313161, RGD:1559326 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 IAGP DNA:SNPs, haplotype: : RGD PMID:15793265 RGD:1578329 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618 		JBrowse link
G PAX6 paired box 6 IAGP associated with Aniridia;DNA:nonsense mutation:cds:p.R240X RGD PMID:19034419 RGD:2308929 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP DNA:missense mutation:cds:p.G482S (rs8192678) RGD PMID:23449621 RGD:7241821 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO ORPHA:90117 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
Abnormal oral glucose tolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:552 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CEL carboxyl ester lipase IAGP HPO ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HNF1A HNF1 homeobox A IAGP DNA:polymorphism: : HPO
RGD		 PMID:23674172 ORPHA:552, RGD:150540303 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G INS insulin IAGP HPO ORPHA:552 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:276580 ORPHA:552 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP HPO MIM:606824 NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 IAGP HPO ORPHA:69076 NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860 		JBrowse link
Abnormal sweat electrolytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY2C guanylate cyclase 2C IAGP HPO MIM:614665 NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO MIM:618781 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
Abnormality of acid-base homeostasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBP1 fructose-bisphosphatase 1 IAGP ClinVar Annotator: match by term: Abnormality of acid-base homeostasis ClinVar PMID:25741868 NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249 		JBrowse link
Abnormality of temperature regulation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL3 ARF like GTPase 3 IAGP HPO MIM:618161 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G CLCN6 chloride voltage-gated channel 6 IAGP ClinVar Annotator: match by term: Poor temperature regulation ClinVar
HPO		 PMID:25741868 PMID:33217309 MIM:619173 NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90321 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:90321 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G IL17F interleukin 17F IAGP HPO ORPHA:1334 NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO ORPHA:1334 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO ORPHA:1334 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO MIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP HPO MIM:618493 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO MIM:209880 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO ORPHA:1334 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
Acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX4 paired box 4 IAGP HPO MIM:612225 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP HPO ORPHA:134 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,148,957 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 IAGP HPO ORPHA:289504 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
G CLDN16 claudin 16 IAGP HPO MIM:248250 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO ORPHA:411629 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO MIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP HPO MIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO MIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO MIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G KCNJ16 potassium inwardly rectifying channel subfamily J member 16 IAGP HPO MIM:619406 NCBI chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608 		JBrowse link
G MRM2 mitochondrial rRNA methyltransferase 2 IAGP HPO MIM:618567 NCBI chr 7:2,234,195...2,242,205
Ensembl chr 7:2,234,195...2,242,205 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP HPO MIM:618235 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO MIM:227810 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) severity IAGP DNA:snp:promoter:g.-5699T>C RGD PMID:16960783 RGD:10450507 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
Alkalosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:219090 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G NAGS N-acetylglutamate synthase IAGP HPO MIM:237310 NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068 		JBrowse link
G SLC26A3 solute carrier family 26 member 3 IAGP HPO MIM:214700 NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO MIM:219090 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
Anasarca term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		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 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 NPHS1 NPHS1 adhesion molecule, nephrin IAGP HPO MIM:256300 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		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 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 POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:203700 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO MIM:254900 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
Anesthesic-triggered malignant hyperthermia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase IAGP ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia ClinVar NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia ClinVar PMID:1982519 PMID:9536098 PMID:17576681 PMID:19825159 PMID:20431982 More... NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G LOC126862902 BRD4-independent group 4 enhancer GRCh37_chr19:38995830-38997029 IAGP ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia ClinVar PMID:14732627 PMID:16163667 PMID:16732084 PMID:16835904 PMID:16917943 More... NCBI chr19:38,505,190...38,506,389 JBrowse link
G LOC129391106 MPRA-validated peak3472 silencer IAGP ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia ClinVar PMID:11873057 PMID:16940308 PMID:18171678 PMID:18414213 PMID:21118704 More... NCBI chr19:38,455,156...38,455,356 JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia ClinVar PMID:12434 PMID:18564 PMID:1256913 PMID:1354642 PMID:1510267 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 IAGP ClinVar Annotator: match by term: Anesthesic-triggered malignant hyperthermia ClinVar PMID:25741868 NCBI chr17:3,565,446...3,609,411
Ensembl chr17:3,565,444...3,609,411 		JBrowse link
Angioedema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT1 angiopoietin 1 IAGP HPO MIM:619361 NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055 		JBrowse link
G CPN1 carboxypeptidase N subunit 1 IAGP HPO MIM:212070 NCBI chr10:100,042,193...100,081,869
Ensembl chr10:100,042,193...100,081,869 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G F12 coagulation factor XII IAGP ClinVar Annotator: match by term: Quincke edema ClinVar
HPO		 PMID:16638441 PMID:25741868 MIM:610618 NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583 		JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 IAGP HPO MIM:619367 NCBI chr16:1,911,475...1,920,940
Ensembl chr16:1,911,475...1,918,415 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:79455 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KNG1 kininogen 1 IAGP HPO MIM:619363 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410 		JBrowse link
G MYOF myoferlin IAGP HPO MIM:619366 NCBI chr10:93,306,429...93,482,334
Ensembl chr10:93,306,429...93,482,334 		JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO MIM:614468 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685 		JBrowse link
G PLG plasminogen IAGP HPO MIM:619360 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G SERPING1 serpin family G member 1 IAGP ClinVar Annotator: match by term: Angioedema ClinVar
HPO		 PMID:11112899 PMID:14635117 PMID:18758157 PMID:24456027 PMID:25741868 More... MIM:106100 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO MIM:256500 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G SYTL2 synaptotagmin like 2 IAGP ClinVar Annotator: match by term: Angioedema ClinVar PMID:28327206 NCBI chr11:85,694,229...85,854,870
Ensembl chr11:85,694,224...85,811,159 		JBrowse link
G XPNPEP2 X-prolyl aminopeptidase 2 IAGP HPO MIM:300909 ORPHA:100057 NCBI chr  X:129,738,979...129,769,536
Ensembl chr  X:129,738,949...129,769,536 		JBrowse link
Bicarbonate-wasting renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO ORPHA:3337 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO ORPHA:3337 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO ORPHA:3337 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 IAGP HPO MIM:604278 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
Bipedal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 F5 coagulation factor V IAGP HPO ORPHA:131 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:131 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
Blepharochalasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO MIM:225410 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461 		JBrowse link
G CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO MIM:620780 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO MIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G GSN gelsolin IAGP HPO ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
Cerebral edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Brain edema ClinVar PMID:25741868 PMID:26467025 PMID:27677908 PMID:28492532 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO MIM:611126 ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO MIM:201450 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO MIM:207900 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ASS1 argininosuccinate synthase 1 IAGP HPO MIM:215700 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:602481 ORPHA:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP HPO MIM:248600 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
G C1QBP complement C1q binding protein IAGP HPO MIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:569 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO MIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 IAGP HPO MIM:237300 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G CPSF3 cleavage and polyadenylation specific factor 3 IAGP HPO MIM:619876 NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:614212 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G DBR1 debranching RNA lariats 1 IAGP HPO MIM:620510 NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949 		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 KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LIAS lipoic acid synthetase IAGP HPO MIM:614462 NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 IAGP HPO MIM:620646 NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517 		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 NAXE NAD(P)HX epimerase IAGP HPO MIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO MIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G OTC ornithine transcarbamylase IAGP HPO MIM:311250 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP HPO MIM:608033 ORPHA:88619 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:569 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO MIM:603471 ORPHA:247585 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SMS spermine synthase IAGP HPO ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:1930 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 IAGP HPO ORPHA:1930 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712 		JBrowse link
G TLR3 toll like receptor 3 IAGP HPO ORPHA:1930 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TRAF3 TNF receptor associated factor 3 IAGP HPO ORPHA:1930 NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP HPO ORPHA:1930 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982 		JBrowse link
Chronic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC2A2 solute carrier family 2 member 2 IAGP HPO MIM:227810 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
Chronic lactic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO MIM:603358 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO MIM:312170 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Chronic lactic acidosis ClinVar PMID:10528257 PMID:25808372 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
Chronic metabolic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSS glutathione synthetase IAGP HPO MIM:266130 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027 		JBrowse link
Chronic respiratory acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:620771 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
Chylothorax 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 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO MIM:619036 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO MIM:613563 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G EPHB4 EPH receptor B4 IAGP HPO MIM:617300 ORPHA:137667 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Chylothorax HPO
ClinVar		 PMID:25741868 PMID:28492532 ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO MIM:153400 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G KIF11 kinesin family member 11 IAGP HPO ORPHA:2526 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO MIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO MIM:616843 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO MIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:137667 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		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
Congenital lactic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G OGDH oxoglutarate dehydrogenase IAGP HPO MIM:203740 NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,572...44,709,066 		JBrowse link
G PC pyruvate carboxylase IAGP ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:28492532 PMID:32581362 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956 		JBrowse link
G PPP1R12B protein phosphatase 1 regulatory subunit 12B IAGP ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar NCBI chr 1:202,348,699...202,592,702
Ensembl chr 1:202,348,699...202,592,706 		JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873 		JBrowse link
G UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 IAGP HPO MIM:615824 NCBI chr 6:33,696,764...33,711,700
Ensembl chr 6:33,694,293...33,711,727 		JBrowse link
Corneal stromal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL8A2 collagen type VIII alpha 2 chain IAGP HPO MIM:136800 ORPHA:98973 NCBI chr 1:36,095,239...36,125,222
Ensembl chr 1:36,095,239...36,125,222 		JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 IAGP HPO MIM:617319 NCBI chr19:16,892,951...17,026,810
Ensembl chr19:16,892,951...17,026,815 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility IAGP DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N RGD PMID:19597567 RGD:7800689 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP HPO ORPHA:98973 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G OVOL2 ovo like zinc finger 2 IAGP HPO ORPHA:98973 NCBI chr20:18,024,152...18,059,188
Ensembl chr20:17,956,979...18,059,188 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 IAGP HPO ORPHA:293603 NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO MIM:613267 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TEK TEK receptor tyrosine kinase IAGP HPO MIM:617272 NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO ORPHA:98964 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
G VSX1 visual system homeobox 1 IAGP HPO ORPHA:98973 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 IAGP HPO MIM:613270 ORPHA:98973 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		JBrowse link
Cystoid macular edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 IAGP HPO MIM:617433 NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485 		JBrowse link
G ARL3 ARF like GTPase 3 IAGP HPO MIM:618173 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 IAGP HPO ORPHA:41751 NCBI chr 4:186,191,567...186,213,463
Ensembl chr 4:186,191,567...186,213,463 		JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO MIM:613861 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		JBrowse link
G EYS eyes shut homolog IAGP ClinVar Annotator: match by term: Cystoid macular oedema ClinVar PMID:25741868 NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226 		JBrowse link
G HLA-A major histocompatibility complex, class I, A IAGP HPO ORPHA:179 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP DNA:polymorphism:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha IAGP HPO MIM:619007 NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945 		JBrowse link
G KIAA1549 KIAA1549 IAGP HPO MIM:618613 NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389 		JBrowse link
G KLHL7 kelch like family member 7 IAGP HPO MIM:612943 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G MFRP membrane frizzled-related protein IAGP HPO MIM:611040 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO MIM:186580 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PDE6G phosphodiesterase 6G IAGP HPO MIM:613582 NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112 		JBrowse link
G PHF3 PHD finger protein 3 IAGP ClinVar Annotator: match by term: Cystoid macular oedema ClinVar PMID:25741868 NCBI chr 6:63,635,802...63,726,011
Ensembl chr 6:63,635,802...63,779,336 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:617123 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G PRPF8 pre-mRNA processing factor 8 IAGP HPO MIM:600059 NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867 		JBrowse link
G PRPH2 peripherin 2 IAGP HPO ORPHA:52427 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G RDH5 retinol dehydrogenase 5 IAGP HPO ORPHA:52427 NCBI chr12:55,720,393...55,724,705
Ensembl chr12:55,720,367...55,724,705 		JBrowse link
G REEP6 receptor accessory protein 6 IAGP HPO MIM:617304 NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927 		JBrowse link
G RHO rhodopsin IAGP HPO ORPHA:52427 NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 IAGP HPO ORPHA:52427 NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614 		JBrowse link
G RP1L1 RP1 like 1 IAGP HPO MIM:618826 NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		JBrowse link
D-2-hydroxyglutaric acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO MIM:613657 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
Decreased resting energy expenditure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 IAGP HPO MIM:601665 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AGRP agouti related neuropeptide IAGP HPO MIM:601665 NCBI chr16:67,482,571...67,483,547
Ensembl chr16:67,482,571...67,483,547 		JBrowse link
G CARTPT CART prepropeptide IAGP HPO MIM:601665 NCBI chr 5:71,719,275...71,721,045
Ensembl chr 5:71,719,275...71,721,048 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:601665 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide IAGP HPO MIM:601665 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G NR0B2 nuclear receptor subfamily 0 group B member 2 IAGP HPO MIM:601665 NCBI chr 1:26,911,489...26,913,975
Ensembl chr 1:26,911,489...26,913,975 		JBrowse link
G POMC proopiomelanocortin IAGP HPO MIM:601665 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO MIM:601665 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G SDC3 syndecan 3 IAGP HPO MIM:601665 NCBI chr 1:30,869,466...30,909,735
Ensembl chr 1:30,869,466...30,908,758 		JBrowse link
G UCP3 uncoupling protein 3 IAGP HPO MIM:601665 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085 		JBrowse link
Decreased serum bicarbonate concentration 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 SLC4A4 solute carrier family 4 member 4 IAGP HPO MIM:604278 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO MIM:614492 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452 		JBrowse link
Dehydration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO ORPHA:313 ORPHA:457 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:79134 ORPHA:99885 ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 IAGP HPO ORPHA:79159 NCBI chr11:134,253,568...134,265,855
Ensembl chr11:134,253,548...134,265,855 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP HPO MIM:203750 ORPHA:134 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,148,957 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 IAGP HPO MIM:614265 ORPHA:289504 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO MIM:259900 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G AK2 adenylate kinase 2 IAGP HPO ORPHA:33355 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO ORPHA:313 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP HPO ORPHA:313 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G ASPRV1 aspartic peptidase retroviral like 1 IAGP HPO ORPHA:313 NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:2131 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:2131 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 IAGP HPO MIM:602722 NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560 		JBrowse link
G BLNK B cell linker IAGP HPO ORPHA:33110 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP HPO ORPHA:89938 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:2131 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CD79A CD79a molecule IAGP HPO ORPHA:33110 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CD79B CD79b molecule IAGP HPO ORPHA:33110 NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336 		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 CFTR CF transmembrane conductance regulator IAGP HPO MIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO ORPHA:89938 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO MIM:607364 ORPHA:89938 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CLMP CXADR like membrane protein IAGP HPO MIM:615237 NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,291 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO MIM:616271 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO MIM:219800 ORPHA:411629 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYC1 cytochrome c1 IAGP HPO MIM:615453 NCBI chr 8:144,095,076...144,097,525
Ensembl chr 8:144,095,039...144,097,525 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP HPO MIM:203400 MIM:610600 ORPHA:556030 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 IAGP HPO MIM:143880 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 IAGP HPO ORPHA:313 NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317 		JBrowse link
G DBH dopamine beta-hydroxylase IAGP HPO ORPHA:230 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G EGFR epidermal growth factor receptor IAGP HPO MIM:616069 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO ORPHA:3337 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO ORPHA:92050 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO MIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO ORPHA:3337 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO MIM:246450 ORPHA:20 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO ORPHA:90791 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO MIM:601410 ORPHA:96191 ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP HPO ORPHA:33110 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218 		JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP HPO ORPHA:33110 NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302 		JBrowse link
G INS insulin IAGP HPO ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		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 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO MIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:79134 ORPHA:99885 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127 		JBrowse link
G LCT lactase IAGP HPO MIM:223000 NCBI chr 2:135,787,850...135,837,184
Ensembl chr 2:135,787,850...135,837,184 		JBrowse link
G LIPN lipase family member N IAGP HPO ORPHA:313 NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626 		JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP HPO ORPHA:33110 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039 		JBrowse link
G MCEE methylmalonyl-CoA epimerase IAGP HPO MIM:251120 NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239 		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 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 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 MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MRPS28 mitochondrial ribosomal protein S28 IAGP HPO MIM:618958 NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,717...80,030,289 		JBrowse link
G MYO5B myosin VB IAGP HPO MIM:251850 ORPHA:2290 NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:79134 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO ORPHA:3337 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NEUROG3 neurogenin 3 IAGP HPO MIM:610370 ORPHA:83620 NCBI chr10:69,571,485...69,573,422
Ensembl chr10:69,571,698...69,573,422 		JBrowse link
G NIPAL4 NIPA like domain containing 4 IAGP HPO ORPHA:313 NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:47045 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO MIM:300200 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 IAGP HPO MIM:177735 NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		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 PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PERCC1 proline and glutamate rich with coiled coil 1 IAGP HPO ORPHA:92050 NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:33110 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		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 PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO MIM:264350 ORPHA:171876 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO MIM:620125 ORPHA:171876 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO MIM:620126 ORPHA:171876 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 IAGP HPO ORPHA:313 NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO MIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO ORPHA:2131 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO MIM:212140 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC26A3 solute carrier family 26 member 3 IAGP HPO MIM:214700 NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 IAGP HPO ORPHA:33110 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439 		JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP HPO ORPHA:35710 NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 IAGP HPO ORPHA:69076 NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO ORPHA:33110 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO ORPHA:634 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STX3 syntaxin 3 IAGP HPO ORPHA:2290 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 IAGP HPO ORPHA:313 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425 		JBrowse link
G TCF3 transcription factor 3 IAGP HPO ORPHA:33110 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO MIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:313 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP HPO MIM:619377 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO MIM:208085 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO MIM:601410 ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
Diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:3202066 PMID:18414213 PMID:21378087 PMID:22855730 PMID:23275527 More... NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADRA2A adrenoceptor alpha 2A IAGP HPO MIM:620679 NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO MIM:608594 ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G APOA5 apolipoprotein A5 IAGP HPO MIM:144650 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO MIM:616511 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 ORPHA:100 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO MIM:209900 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO MIM:615981 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:1333 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:1333 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CASR calcium sensing receptor IAGP HPO ORPHA:676 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:612526 ORPHA:528 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1333 ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO MIM:604928 ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G CP ceruloplasmin IAGP HPO MIM:604290 ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CPA1 carboxypeptidase A1 IAGP HPO ORPHA:676 NCBI chr 7:130,380,494...130,388,108
Ensembl chr 7:130,380,339...130,388,114 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO MIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTRC chymotrypsin C IAGP HPO MIM:167800 ORPHA:676 NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242 		JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO MIM:241080 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 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 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO ORPHA:445062 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		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 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO ORPHA:85282 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G ELMO2 engulfment and cell motility 2 IAGP HPO ORPHA:3019 NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985 		JBrowse link
G ELN elastin IAGP HPO MIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:449291 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO ORPHA:33001 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO ORPHA:2609 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FXN frataxin IAGP HPO MIM:229300 ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO ORPHA:2237 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:600001 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GCGR glucagon receptor IAGP HPO ORPHA:438274 NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008 		JBrowse link
G GCK glucokinase IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:7553875 PMID:9867845 PMID:14578306 PMID:16444761 PMID:19790256 More... MIM:602485 MIM:606176 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:317 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP HPO ORPHA:317 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO ORPHA:317 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31415576 MIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP RGD PMID:34077009 RGD:243048423 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO ORPHA:79230 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231222 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO MIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO ORPHA:79230 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO ORPHA:703 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:703 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:94063 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:9075818 PMID:9097962 PMID:9313764 PMID:9754819 PMID:10333057 More... MIM:222100 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO MIM:137920 ORPHA:261265 ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO MIM:616026 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNP:insertion: ins4436A (rs45487298) (human)
DNA:SNP: (rs12086634)T>G (human)		 RGD PMID:26671915 PMID:23869418 RGD:11353457, RGD:329901929 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP HPO ORPHA:541423 NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO MIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO MIM:601942 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:222100 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:11921414 PMID:18171712 PMID:22957706 PMID:25542748 PMID:26101329 MIM:613370 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:11921414 PMID:18171712 PMID:22957706 PMID:25542748 PMID:26101329 NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP HPO MIM:222100 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:2270156 PMID:2462236 PMID:12524280 PMID:15115830 PMID:15292329 More... MIM:616329 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:317 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:28492532 PMID:33538814 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1333 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:94063 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G LEPR leptin receptor IAGP HPO MIM:614963 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LHX1 LIM homeobox 1 IAGP HPO ORPHA:261265 NCBI chr17:36,936,785...36,944,612
Ensembl chr17:36,936,785...36,944,612 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP HPO MIM:615980 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 ORPHA:79084 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMNB2 lamin B2 IAGP HPO MIM:608709 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MEF2A myocyte enhancer factor 2A IAGP HPO MIM:608320 NCBI chr15:99,565,417...99,716,488
Ensembl chr15:99,565,417...99,716,488 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO MIM:605231 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		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 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:480 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO MIM:540000 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO MIM:540000 ORPHA:2609 ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:2609 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:2609 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP HPO MIM:540000 NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO MIM:540000 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO MIM:540000 ORPHA:480 ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO MIM:540000 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO ORPHA:2609 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP HPO ORPHA:2609 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,207...5,904,006 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO ORPHA:2609 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP HPO ORPHA:2609 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP HPO ORPHA:2609 NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP HPO ORPHA:2609 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO ORPHA:2609 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO ORPHA:2609 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP HPO ORPHA:2609 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO ORPHA:2609 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2609 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP HPO ORPHA:2609 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 IAGP HPO ORPHA:2609 NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO ORPHA:2609 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO ORPHA:2609 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO ORPHA:2609 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO ORPHA:2609 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO ORPHA:2609 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP HPO ORPHA:2609 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO ORPHA:2609 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP HPO ORPHA:2609 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP HPO ORPHA:2609 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO 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 ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		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 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 NPPA natriuretic peptide A susceptibility IAGP DNA:SNP, missense mutation:intron 2, CDS:1837G>A, 664G>A (p.V7M) (human) RGD PMID:10525492 RGD:149735577 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO MIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP HPO ORPHA:2609 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:1215 ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:1333 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP HPO ORPHA:1333 NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PAX4 paired box 4 IAGP HPO MIM:612227 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO MIM:614613 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO MIM:610717 ORPHA:565612 ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO MIM:615830 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO MIM:610628 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PRSS1 serine protease 1 IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PRSS2 serine protease 2 IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP HPO MIM:609069 MIM:615935 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO MIM:222100 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO MIM:616263 ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP HPO ORPHA:1333 NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RFX6 regulatory factor X6 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:15592663 PMID:20148032 MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 ORPHA:480 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		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 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO MIM:249270 ORPHA:49827 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP HPO MIM:606069 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:1333 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO MIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:10835640 PMID:15980664 PMID:16849362 PMID:18978175 PMID:23017645 More... MIM:167800 ORPHA:676 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO MIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 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:1501 ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G THRB thyroid hormone receptor beta IAGP HPO MIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO ORPHA:2609 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO ORPHA:2609 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1333 ORPHA:1501 ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO MIM:616033 ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO ORPHA:96 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:609286 ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		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 UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		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 USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 More... MIM:222300 MIM:614296 ORPHA:3463 ORPHA:411590 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO MIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G YIPF5 Yip1 domain family member 5 IAGP HPO MIM:619278 NCBI chr 5:144,158,162...144,170,659
Ensembl chr 5:144,158,162...144,170,714 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP HPO MIM:620194 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Diabetic ketoacidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:552 ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CEL carboxyl ester lipase IAGP HPO ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP HPO MIM:615238 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO ORPHA:552 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G INS insulin IAGP HPO MIM:613370 MIM:618858 ORPHA:552 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INSR insulin receptor IAGP HPO MIM:262190 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
Dicarboxylic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 IAGP HPO ORPHA:289504 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
Distal renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar
HPO		 PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 MIM:602722 NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 2:10,720,943...10,785,110
Ensembl chr 2:10,721,100...10,785,110 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO MIM:259730 ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CLDN16 claudin 16 IAGP HPO MIM:248250 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO MIM:146255 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:1309 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I ClinVar
HPO		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... MIM:179800 MIM:611590 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
Edema 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 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO ORPHA:154 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP HPO ORPHA:134 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,148,957 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:154 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO ORPHA:154 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ACTN4 actinin alpha 4 IAGP HPO MIM:603278 ORPHA:656 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G ADA adenosine deaminase IAGP HPO ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G AGBL1 AGBL carboxypeptidase 1 IAGP HPO ORPHA:98974 NCBI chr15:86,079,620...87,031,476
Ensembl chr15:86,079,871...87,049,169 		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 AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:219090 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ALB albumin IAGP HPO MIM:616000 ORPHA:86816 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO MIM:607143 ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO MIM:608104 ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ANKFY1 ankyrin repeat and FYVE domain containing 1 IAGP HPO ORPHA:656 NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP HPO ORPHA:154 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G ANLN anillin, actin binding protein IAGP HPO ORPHA:656 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO MIM:105200 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:158029 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APOL1 apolipoprotein L1 IAGP HPO ORPHA:656 NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP HPO ORPHA:656 NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668 		JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha IAGP HPO MIM:615244 ORPHA:656 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,719...81,871,378 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G B2M beta-2-microglobulin IAGP HPO MIM:105200 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,336 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO ORPHA:154 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BAG5 BAG cochaperone 5 IAGP HPO ORPHA:154 NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP HPO MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO ORPHA:329971 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP HPO MIM:602522 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G CAP2 cyclase associated actin cytoskeleton regulatory protein 2 IAGP HPO ORPHA:154 NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780 		JBrowse link
G CCDC88A coiled-coil domain containing 88A IAGP HPO MIM:617507 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895 		JBrowse link
G CD28 CD28 molecule IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
G CD2AP CD2 associated protein IAGP HPO ORPHA:656 NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO MIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:498359 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO MIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO MIM:253290 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO MIM:613090 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO MIM:613090 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:200610 ORPHA:93296 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP HPO ORPHA:656 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL8A2 collagen type VIII alpha 2 chain IAGP HPO ORPHA:98974 NCBI chr 1:36,095,239...36,125,222
Ensembl chr 1:36,095,239...36,125,222 		JBrowse link
G COQ8B coenzyme Q8B IAGP HPO MIM:615573 ORPHA:656 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP HPO ORPHA:656 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO ORPHA:154 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP HPO ORPHA:154 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:2584 ORPHA:3162 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 IAGP HPO ORPHA:656 NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DES desmin IAGP HPO ORPHA:154 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO MIM:267000 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:154 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DOLK dolichol kinase IAGP HPO ORPHA:154 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G DSG2 desmoglein 2 IAGP HPO ORPHA:154 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSP desmoplakin IAGP HPO MIM:605676 ORPHA:154 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DUOX2 dual oxidase 2 IAGP HPO ORPHA:226316 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EMP2 epithelial membrane protein 2 IAGP HPO ORPHA:656 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632 		JBrowse link
G ENG endoglin IAGP HPO ORPHA:329971 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:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EPHB4 EPH receptor B4 IAGP HPO MIM:617300 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:607598 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO MIM:616570 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G FECH ferrochelatase IAGP HPO MIM:177000 ORPHA:79278 NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO MIM:105200 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FHL2 four and a half LIM domains 2 IAGP HPO ORPHA:154 NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:154 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G GAPVD1 GTPase activating protein and VPS9 domains 1 IAGP HPO ORPHA:656 NCBI chr 9:125,261,826...125,367,207
Ensembl chr 9:125,261,794...125,367,207 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:79277 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATAD1 GATA zinc finger domain containing 1 IAGP HPO ORPHA:154 NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP HPO MIM:232500 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase IAGP HPO ORPHA:154 NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO MIM:253310 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		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 GSN gelsolin IAGP HPO ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 IAGP HPO ORPHA:154 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO MIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO ORPHA:20 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		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 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 IFT140 intraflagellar transport 140 IAGP HPO MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986