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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Adult onset
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Accession:HP:0003581 term browser browse the term
Definition:Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
Synonyms:exact_synonym: Onset in adulthood;   Onset in early adulthood;   Symptoms begin in adulthood
 alt_id: HP:0003585;   HP:0003598;   HP:0003627;   HP:0003662;   HP:0003669
 xref: UMLS:C1853562


show annotations for term's descendants           Sort by:
Adult onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:619661 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) IAGP HPO MIM:618915 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:210250 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO MIM:616553 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:deletion:intron:IVS16+1464-1751del RGD PMID:24452036 RGD:8142353 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO MIM:612098 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO MIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746 		JBrowse link
G AGBL1 AGBL carboxypeptidase 1 IAGP HPO MIM:615523 NCBI chr15:86,079,620...87,031,476
Ensembl chr15:86,079,871...87,049,169 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALG10B ALG10 alpha-1,2-glucosyltransferase B IAGP HPO MIM:613688 NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721 		JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO MIM:620056 NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763 		JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein IAGP HPO MIM:601367 NCBI chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:118600 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778 		JBrowse link
G ANO1 anoctamin 1 IAGP HPO MIM:620687 NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530 		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 MIM:269600 MIM:607822 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APP amyloid beta precursor protein IAGP HPO MIM:104300 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G APTX aprataxin IAGP HPO MIM:208920 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G AR androgen receptor IAGP HPO MIM:313200 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARHGEF10 Rho guanine nucleotide exchange factor 10 IAGP HPO MIM:608236 NCBI chr 8:1,823,300...1,958,641
Ensembl chr 8:1,823,926...1,958,641 		JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO MIM:615954 NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO MIM:617225 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP HPO MIM:618036 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G ATP5MC3 ATP synthase membrane subunit c locus 3 IAGP HPO MIM:619681 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710 		JBrowse link
G ATXN1 ataxin 1 IAGP HPO MIM:164400 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:168600 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:168600 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:168600 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO MIM:250950 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		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 BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO MIM:606661 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP HPO MIM:137245 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G BPGM bisphosphoglycerate mutase IAGP HPO MIM:222800 NCBI chr 7:134,646,853...134,679,816
Ensembl chr 7:134,646,811...134,679,816 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:619112 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO MIM:612387 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G C1QTNF5 C1q and TNF related 5 IAGP HPO MIM:605670 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940 		JBrowse link
G C3 complement C3 IAGP HPO MIM:612925 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C9 complement C9 IAGP HPO MIM:615591 NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324 		JBrowse link
G C9orf72 C9orf72-SMCR8 complex subunit IAGP HPO MIM:105550 NCBI chr 9:27,546,546...27,573,866
Ensembl chr 9:27,535,640...27,573,866 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO MIM:618447 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CCND1 cyclin D1 IAGP HPO MIM:254500 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDH1 cadherin 1 IAGP HPO MIM:137215 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO MIM:617540 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CFAP58 cilia and flagella associated protein 58 IAGP HPO MIM:619144 NCBI chr10:104,338,520...104,455,102
Ensembl chr10:104,353,833...104,455,102 		JBrowse link
G CFH complement factor H IAGP HPO MIM:610698 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP HPO MIM:204300 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:180000 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP HPO MIM:620320 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO MIM:620725 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO MIM:146500 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G CORIN corin, serine peptidase IAGP HPO MIM:614595 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106 		JBrowse link
G CP ceruloplasmin IAGP HPO MIM:604290 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CPT1C carnitine palmitoyltransferase 1C IAGP HPO MIM:616282 NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO MIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:221820 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP HPO MIM:607482 MIM:612124 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP HPO MIM:132700 MIM:601606 MIM:605041 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO MIM:103900 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility IAGP DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K
DNA:snp, missense mutations, haplotype:promoter, cds:multiple 		RGD PMID:17563717 PMID:18055790 RGD:7800695, RGD:7800696 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO MIM:105400 MIM:168605 MIM:607641 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP HPO MIM:616871 NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DES desmin IAGP HPO MIM:601419 MIM:604765 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO MIM:618475 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DMD dystrophin IAGP HPO MIM:300376 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO MIM:615156 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IAGP HPO MIM:619095 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792 		JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP HPO MIM:618061 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO MIM:619478 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO MIM:612937 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G DSG2 desmoglein 2 IAGP HPO MIM:612877 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DTNA dystrobrevin alpha IAGP HPO MIM:604169 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G DYSF dysferlin IAGP HPO MIM:254130 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 IAGP HPO MIM:609306 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO MIM:611276 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139 		JBrowse link
G ENO3 enolase 3 IAGP HPO MIM:612932 NCBI chr17:4,948,710...4,957,129
Ensembl chr17:4,948,092...4,957,131 		JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO MIM:601367 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP HPO MIM:188055 MIM:600880 MIM:601367 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G F8 coagulation factor VIII IAGP HPO MIM:301071 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO MIM:619764 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:129600 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		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 FGF14 fibroblast growth factor 14 IAGP HPO MIM:620174 NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 IAGP HPO MIM:619402 NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:612577 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FLNC filamin C IAGP HPO MIM:609524 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO MIM:311360 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO MIM:617349 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G FTH1 ferritin heavy chain 1 IAGP HPO MIM:615517 NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634 		JBrowse link
G FTL ferritin light chain IAGP HPO MIM:600886 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO MIM:133780 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:168600 MIM:231000 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCGR glucagon receptor IAGP HPO MIM:619290 NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO MIM:617343 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GK glycerol kinase IAGP HPO MIM:307030 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO MIM:615361 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP HPO MIM:192605 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G GNAL G protein subunit alpha L IAGP HPO MIM:615073 NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685 		JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:219080 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNB3 G protein subunit beta 3 IAGP HPO MIM:617024 NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO MIM:605820 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GSN gelsolin IAGP HPO MIM:105120 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase IAGP HPO MIM:604931 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO MIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO MIM:126200 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 MIM:126200 MIM:181000 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO MIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		JBrowse link
G HRG histidine rich glycoprotein IAGP HPO MIM:613116 NCBI chr 3:186,666,014...186,678,234
Ensembl chr 3:186,660,216...186,678,234 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO MIM:608634 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP HPO MIM:616151 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G INF2 inverted formin 2 IAGP HPO MIM:613237 NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:606658 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:600880 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JUP junction plakoglobin IAGP HPO MIM:611528 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO MIM:613693 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO MIM:613688 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO MIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO MIM:245900 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LDB3 LIM domain binding 3 IAGP HPO MIM:601493 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:254500 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMNB1 lamin B1 IAGP HPO MIM:169500 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO MIM:133780 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO MIM:610947 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G LYZ lysozyme IAGP HPO MIM:105200 NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:615670 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G M1AP meiosis 1 associated protein IAGP HPO MIM:619108 NCBI chr 2:74,557,883...74,648,330
Ensembl chr 2:74,557,883...74,648,338 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:168600 MIM:260540 MIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MATR3 matrin 3 IAGP HPO MIM:606070 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MB myoglobin IAGP HPO MIM:620286 NCBI chr22:35,606,764...35,623,354
Ensembl chr22:35,606,764...35,637,951 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO MIM:606660 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP HPO MIM:210200 NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075 		JBrowse link
G MCM2 minichromosome maintenance complex component 2 IAGP HPO MIM:616968 NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO MIM:605589 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		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 MEN1 menin 1 IAGP HPO MIM:131100 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO MIM:616166 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP HPO MIM:607174 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G MPEG1 macrophage expressed 1 IAGP HPO MIM:619223 NCBI chr11:59,208,510...59,212,927
Ensembl chr11:59,208,510...59,212,927 		JBrowse link
G MPO myeloperoxidase IAGP HPO MIM:104300 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO MIM:614350 NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO MIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:607341 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MUC1 mucin 1, cell surface associated IAGP HPO MIM:174000 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:115197 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:613426 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO MIM:608758 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYOC myocilin IAGP DNA:snps:cds:p.T209N, p.L215Q RGD PMID:22933836 RGD:7394814 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO MIM:618317 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G MYOT myotilin IAGP HPO MIM:609200 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO MIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO MIM:105400 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP HPO MIM:613876 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO MIM:607174 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO MIM:616576 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO MIM:620400 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP HPO MIM:104300 MIM:601367 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO MIM:618866 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:168600 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO MIM:616415 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G NUTM2B-AS1 NUTM2B antisense RNA 1 IAGP HPO MIM:618637 NCBI chr10:79,691,500...79,826,594
Ensembl chr10:79,661,394...79,826,594 		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 PALB2 partner and localizer of BRCA2 IAGP HPO MIM:613348 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO MIM:606324 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO MIM:616371 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PAX2 paired box 2 IAGP HPO MIM:616002 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO MIM:126200 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PDE1C phosphodiesterase 1C IAGP HPO MIM:618140 NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:213600 MIM:607174 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:213600 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300818 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PLAU plasminogen activator, urokinase IAGP HPO MIM:104300 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PLD3 phospholipase D family member 3 IAGP HPO MIM:617770 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472 		JBrowse link
G PLIN4 perilipin 4 IAGP HPO MIM:601846 NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO MIM:605589 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO MIM:610717 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO MIM:615696 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:612591 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO MIM:615083 MIM:618336 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:157640 MIM:607459 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 MIM:610131 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POT1 protection of telomeres 1 IAGP HPO MIM:615848 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G PRKCH protein kinase C eta IAGP HPO MIM:601367 NCBI chr14:61,187,468...61,550,976
Ensembl chr14:61,187,559...61,550,980 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II IAGP HPO MIM:174050 NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO MIM:615436 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:137440 MIM:600072 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PRPH peripherin IAGP HPO MIM:105400 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO MIM:607822 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 MIM:607174 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAPGEF2 Rap guanine nucleotide exchange factor 2 IAGP HPO MIM:618075 NCBI chr 4:159,103,079...159,360,173
Ensembl chr 4:159,103,013...159,360,174 		JBrowse link
G RBP3 retinol binding protein 3 IAGP HPO MIM:615233 NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 IAGP HPO MIM:617175 NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558 		JBrowse link
G REC114 REC114 meiotic recombination protein IAGP HPO MIM:619176 NCBI chr15:73,443,164...73,560,013
Ensembl chr15:73,443,164...73,560,013 		JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:171400 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RFC1 replication factor C subunit 1 IAGP HPO MIM:614575 NCBI chr 4:39,287,456...39,366,362
Ensembl chr 4:39,287,456...39,366,375 		JBrowse link
G RNASEL ribonuclease L IAGP HPO MIM:601518 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO MIM:616373 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SAMD12 sterile alpha motif domain containing 12 IAGP HPO MIM:601068 NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112 		JBrowse link
G SASH3 SAM and SH3 domain containing 3 IAGP HPO MIM:301082 NCBI chr  X:129,779,949...129,795,201
Ensembl chr  X:129,779,949...129,795,201 		JBrowse link
G SCD5 stearoyl-CoA desaturase 5 IAGP HPO MIM:619086 NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796 		JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP HPO MIM:615551 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP HPO MIM:611819 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO MIM:603830 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO MIM:601650 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO MIM:115310 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO MIM:605373 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator IAGP HPO MIM:617004 NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208 		JBrowse link
G SERPINA6 serpin family A member 6 IAGP HPO MIM:611489 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389 		JBrowse link
G SFRP4 secreted frizzled related protein 4 IAGP HPO MIM:265900 NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695 		JBrowse link
G SH2B3 SH2B adaptor protein 3 susceptibility IAGP DNA:SNP: : (rs3184504) RGD PMID:21873553 RGD:6484692 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP HPO MIM:613353 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 IAGP HPO MIM:605583 NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO MIM:213600 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO MIM:603471 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO MIM:609283 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP HPO MIM:620366 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO MIM:162091 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO MIM:607174 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO MIM:158901 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO MIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO MIM:105400 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO MIM:607259 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G STARD7 StAR related lipid transfer domain containing 7 IAGP HPO MIM:607876 NCBI chr 2:96,184,859...96,208,827
Ensembl chr 2:96,184,859...96,208,827 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO MIM:160565 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO MIM:618093 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM:607174 MIM:620343 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO MIM:610743 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:314250 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374 		JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP HPO MIM:301028 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO MIM:616439 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:168600 MIM:607136 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TCAP titin-cap IAGP HPO MIM:607487 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		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 TERC telomerase RNA component IAGP HPO MIM:614743 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:614742 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO MIM:604484 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:132800 MIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G THBD thrombomodulin IAGP HPO MIM:614486 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G THOC1 THO complex subunit 1 IAGP HPO MIM:620280 NCBI chr18:214,520...268,047
Ensembl chr18:214,520...268,050 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO MIM:604454 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO MIM:614302 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 IAGP HPO MIM:620714 NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO MIM:613494 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO MIM:613690 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNPO3 transportin 3 IAGP HPO MIM:608423 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
G TNRC6A trinucleotide repeat containing adaptor 6A IAGP HPO MIM:618074 NCBI chr16:24,610,205...24,826,218
Ensembl chr16:24,610,209...24,827,632 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:192315 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 IAGP HPO MIM:616410 NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:607341 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 MIM:607341 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TTN titin IAGP HPO MIM:600334 MIM:603689 MIM:613765 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTR transthyretin IAGP HPO MIM:105210 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:607459 MIM:609286 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO MIM:300857 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO MIM:620221 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G VPS35 VPS35 retromer complex component IAGP HPO MIM:614203 NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP HPO MIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP HPO MIM:616413 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 IAGP HPO MIM:609141 NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814 		JBrowse link
G ZFHX3 zinc finger homeobox 3 IAGP HPO MIM:613055 NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871 		JBrowse link
G ZNF687 zinc finger protein 687 IAGP HPO MIM:616833 NCBI chr 1:151,281,522...151,292,176
Ensembl chr 1:151,281,618...151,292,176 		JBrowse link
Early young adult onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG10B ALG10 alpha-1,2-glucosyltransferase B IAGP HPO MIM:613688 NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721 		JBrowse link
G B2M beta-2-microglobulin IAGP HPO MIM:241600 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP HPO MIM:609195 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239 		JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP HPO MIM:212050 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon IAGP HPO MIM:260570 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP HPO MIM:160800 NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP HPO MIM:616418 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:608805 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP HPO MIM:615008 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO MIM:616192 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DSP desmoplakin IAGP HPO MIM:607450 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:619687 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G ERCC6L2 ERCC excision repair 6 like 2 IAGP HPO MIM:615715 NCBI chr 9:95,875,691...96,041,092
Ensembl chr 9:95,871,264...96,121,154 		JBrowse link
G ESR2 estrogen receptor 2 IAGP HPO MIM:618187 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO MIM:615947 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO MIM:613507 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:616544 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G INS insulin IAGP HPO MIM:125852 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO MIM:620548 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO MIM:612240 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP HPO MIM:613695 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO MIM:613688 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO MIM:613485 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCTD17 potassium channel tetramerization domain containing 17 IAGP HPO MIM:616398 NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390 		JBrowse link
G LHB luteinizing hormone subunit beta IAGP HPO MIM:228300 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LIG3 DNA ligase 3 IAGP HPO MIM:619780 NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G P2RX2 purinergic receptor P2X 2 IAGP HPO MIM:608224 NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP HPO MIM:615217 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712 		JBrowse link
G PMP2 peripheral myelin protein 2 IAGP HPO MIM:618279 NCBI chr 8:81,440,326...81,447,439
Ensembl chr 8:81,440,326...81,447,439 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:607459 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POPDC1 popeye domain cAMP effector 1 IAGP HPO MIM:616812 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP HPO MIM:612067 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO MIM:602066 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO MIM:614751 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		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 RNF216 ring finger protein 216 IAGP HPO MIM:212840 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G RRAGD Ras related GTP binding D IAGP HPO MIM:620152 NCBI chr 6:89,364,616...89,412,273
Ensembl chr 6:89,364,616...89,412,273 		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 SELENBP1 selenium binding protein 1 IAGP HPO MIM:618148 NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO MIM:614897 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO MIM:613490 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		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 SMN1 survival of motor neuron 1, telomeric IAGP HPO MIM:253400 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMN2 survival of motor neuron 2, centromeric IAGP HPO MIM:253400 NCBI chr 5:70,049,523...70,090,528
Ensembl chr 5:70,049,638...70,078,522
Ensembl chr 5:70,049,638...70,078,522 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP HPO MIM:612955 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO MIM:617690 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO MIM:620285 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		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 TLR7 toll like receptor 7 IAGP HPO MIM:301080 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO MIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO MIM:609270 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO MIM:616959 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TTN titin IAGP HPO MIM:608807 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:607459 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G UNC13D unc-13 homolog D IAGP HPO MIM:608898 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO MIM:158330 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Intermediate young adult onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300911 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		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 C14orf39 chromosome 14 open reading frame 39 IAGP HPO MIM:619203 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 IAGP HPO MIM:607682 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:601462 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G ENG endoglin IAGP HPO MIM:187300 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:612691 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G GATA2 GATA binding protein 2 IAGP HPO MIM:614172 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GRN granulin precursor IAGP HPO MIM:614706 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:263300 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO MIM:610582 MIM:616329 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO MIM:620569 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO MIM:616479 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:613345 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 IAGP HPO MIM:616685 NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO MIM:220150 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353 		JBrowse link
G SOST sclerostin IAGP HPO MIM:269500 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO MIM:615530 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:260500 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO MIM:616959 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO MIM:608323 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
Late onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP HPO MIM:608907 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO MIM:125853 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO MIM:612098 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO MIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP HPO MIM:125853 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ANLN anillin, actin binding protein IAGP HPO MIM:616032 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		JBrowse link
G ANXA11 annexin A11 IAGP HPO MIM:617839 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G APOE apolipoprotein E IAGP HPO MIM:104310 MIM:603075 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APP amyloid beta precursor protein IAGP HPO MIM:605714 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G ATN1 atrophin 1 IAGP HPO MIM:125370 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:168600 MIM:183090 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:168600 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:168600 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO MIM:613881 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO MIM:614327 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO MIM:616562 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BEAN1 brain expressed associated with NEDD4 1 IAGP HPO MIM:117210 NCBI chr16:66,427,295...66,495,288
Ensembl chr16:66,427,295...66,493,529 		JBrowse link
G BLVRA biliverdin reductase A IAGP HPO MIM:614156 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO MIM:620121 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		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 CAPN3 calpain 3 IAGP HPO MIM:618129 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:615343 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCNF cyclin F IAGP HPO MIM:619141 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CFH complement factor H IAGP HPO MIM:126700 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CFHR1 complement factor H related 1 IAGP HPO MIM:603075 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CFHR3 complement factor H related 3 IAGP HPO MIM:603075 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO MIM:615911 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 IAGP HPO MIM:616710 NCBI chr 7:56,101,573...56,106,476
Ensembl chr 7:56,094,567...56,106,479 		JBrowse link
G CLEC3B C-type lectin domain family 3 member B IAGP HPO MIM:619977 NCBI chr 3:45,026,303...45,036,071
Ensembl chr 3:45,001,548...45,036,071 		JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP HPO MIM:204300 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP HPO MIM:619132 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO MIM:617070 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DSC2 desmocollin 2 IAGP HPO MIM:610476 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG2 desmoglein 2 IAGP HPO MIM:610193 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP HPO MIM:614251 NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO MIM:133190 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:125853 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO MIM:613244 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP HPO MIM:615515 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO MIM:608895 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FLNC filamin C IAGP HPO MIM:617047 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO MIM:300623 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G GANAB glucosidase II alpha subunit IAGP HPO MIM:600666 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:168600 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCK glucokinase IAGP HPO MIM:125853 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 IAGP HPO MIM:125853 NCBI chr 2:156,400,281...156,586,403
Ensembl chr 2:156,435,290...156,613,735 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO MIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO MIM:618398 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HMCN1 hemicentin 1 IAGP HPO MIM:603075 NCBI chr 1:185,734,391...186,190,949
Ensembl chr 1:185,734,391...186,190,949 		JBrowse link
G HMGA1 high mobility group AT-hook 1 IAGP HPO MIM:125853 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231 		JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO MIM:125853 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:125853 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:125853 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO MIM:606595 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 IAGP HPO MIM:125853 NCBI chr 3:185,643,130...185,825,042
Ensembl chr 3:185,643,130...185,825,042 		JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:125853 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO MIM:616152 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G IRS1 insulin receptor substrate 1 IAGP HPO MIM:125853 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820 		JBrowse link
G IRS2 insulin receptor substrate 2 IAGP HPO MIM:125853 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:606658 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:263300 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP HPO MIM:607346 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO MIM:611493 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381 		JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 IAGP HPO MIM:620537 NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO MIM:125853 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLKB1 kallikrein B1 IAGP HPO MIM:612423 NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471 		JBrowse link
G KRT18 keratin 18 IAGP HPO MIM:215600 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP HPO MIM:615235 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LDB3 LIM domain binding 3 IAGP HPO MIM:609452 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LIPC lipase C, hepatic type IAGP HPO MIM:125853 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO MIM:256020 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOX lysyl oxidase IAGP HPO MIM:617168 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO MIM:607060 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP HPO MIM:147630 NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 sexual_dimorphism IAGP DNA:missense mutation:CDS, exon 14: (rs702689) RGD PMID:32753933 RGD:150573717 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 IAGP HPO MIM:125853 NCBI chr11:45,885,651...45,906,465
Ensembl chr11:45,885,651...45,906,465 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:168600 MIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO MIM:616280 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO MIM:617018 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO MIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		JBrowse link
G MTNR1B melatonin receptor 1B IAGP HPO MIM:125853 NCBI chr11:92,969,651...92,984,960
Ensembl chr11:92,969,651...92,985,066 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:615396 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO MIM:613251 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYPN myopalladin IAGP HPO MIM:615248 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:616491 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:617892 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO MIM:125853 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP HPO MIM:613122 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NOL3 nucleolar protein 3 IAGP HPO MIM:614937 NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737 		JBrowse link
G NPTX1 neuronal pentraxin 1 IAGP HPO MIM:620158 NCBI chr17:80,466,834...80,476,607
Ensembl chr17:80,466,834...80,477,843 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:168600 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G NRIP1 nuclear receptor interacting protein 1 IAGP HPO MIM:618270 NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936 		JBrowse link
G OPTN optineurin IAGP HPO MIM:613435 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G OXGR1 oxoglutarate receptor 1 IAGP HPO MIM:620374 NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP HPO MIM:164300 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PAX4 paired box 4 IAGP HPO MIM:125853 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:615007 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO MIM:125853 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PDYN prodynorphin IAGP HPO MIM:610245 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO MIM:125853 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP1R3A protein phosphatase 1 regulatory subunit 3A IAGP HPO MIM:125853 NCBI chr 7:113,876,777...113,919,009
Ensembl chr 7:113,876,777...114,075,920 		JBrowse link
G PSEN2 presenilin 2 IAGP HPO MIM:613697 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 IAGP HPO MIM:125853 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241 		JBrowse link
G RETN resistin IAGP HPO MIM:125853 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G RPS14 ribosomal protein S14 IAGP HPO MIM:153550 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO MIM:224100 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:617056 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO MIM:619611 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO MIM:125853 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 IAGP HPO MIM:125853 NCBI chr 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SNCA synuclein alpha IAGP HPO MIM:168601 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO MIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219 		JBrowse link
G TARDBP TAR DNA binding protein IAGP HPO MIM:612069 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:168600 MIM:607136 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TCF7L2 transcription factor 7 like 2 IAGP HPO MIM:125853 NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678 		JBrowse link
G TENM4 teneurin transmembrane protein 4 IAGP HPO MIM:616736 NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO MIM:608471 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO MIM:618734 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO MIM:619825 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO MIM:619133 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO MIM:619832 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP HPO MIM:611879 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP HPO MIM:618098 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TPM1 tropomyosin 1 IAGP HPO MIM:611878 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP HPO MIM:105500 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620456 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TTBK2 tau tubulin kinase 2 IAGP HPO MIM:604432 NCBI chr15:42,738,730...42,921,000
Ensembl chr15:42,738,730...42,920,809 		JBrowse link
G TUBA4A tubulin alpha 4a IAGP HPO MIM:616208 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO MIM:300857 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UMOD uromodulin IAGP HPO MIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP HPO MIM:619279 NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976 		JBrowse link
G VCL vinculin IAGP HPO MIM:613255 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP HPO MIM:125853 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Late young adult onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA11 annexin A11 IAGP HPO MIM:619733 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		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 ATXN3 ataxin 3 IAGP HPO MIM:109150 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 IAGP HPO MIM:607682 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167 		JBrowse link
G CAV3 caveolin 3 IAGP HPO MIM:611818 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CFH complement factor H IAGP HPO MIM:126700 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO MIM:615048 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit IAGP HPO MIM:610353 NCBI chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 IAGP HPO MIM:615651 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:221820 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO MIM:610708 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO MIM:613244 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G GDAP2 ganglioside induced differentiation associated protein 2 IAGP HPO MIM:618369 NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO MIM:203450 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase IAGP HPO MIM:604931 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO MIM:606595 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO MIM:612240 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO MIM:616329 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO MIM:620452 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:600274 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO MIM:616170 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO MIM:617017 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO MIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:157640 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 MIM:610131 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:606688 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PRPH2 peripherin 2 IAGP HPO MIM:608161 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO MIM:600274 MIM:613694 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 IAGP HPO MIM:613697 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:613028 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 IAGP HPO MIM:620102 NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:619806 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP HPO MIM:613120 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO MIM:220150 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO MIM:615530 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO MIM:618250 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO MIM:182980 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCP valosin containing protein IAGP HPO MIM:167320 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 IAGP HPO MIM:617633 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
Middle age onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO MIM:148600 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:613287 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615889 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO MIM:608569 MIM:614050 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO MIM:612098 MIM:613424 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ANO10 anoctamin 10 IAGP HPO MIM:613728 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO MIM:611307 MIM:613319 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANXA11 annexin A11 IAGP HPO MIM:617839 MIM:619733 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP HPO MIM:613647 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:135290 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APOE apolipoprotein E IAGP HPO MIM:606889 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APP amyloid beta precursor protein IAGP HPO MIM:605714 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G 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 ATN1 atrophin 1 IAGP HPO MIM:125370 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP HPO MIM:619804 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300911 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATXN10 ataxin 10 IAGP HPO MIM:603516 NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO MIM:613881 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO MIM:614327 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO MIM:616562 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO MIM:620121 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP HPO MIM:178600 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO MIM:604370 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP HPO MIM:620114 NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO MIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313 		JBrowse link
G CAPN3 calpain 3 IAGP HPO MIM:618129 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO MIM:300908 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:615343 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP HPO MIM:616053 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844 		JBrowse link
G CCNF cyclin F IAGP HPO MIM:619141 NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CDH2 cadherin 2 IAGP HPO MIM:618920 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G CFH complement factor H IAGP HPO MIM:126700 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO MIM:615048 MIM:615911 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 IAGP HPO MIM:616710 NCBI chr 7:56,101,573...56,106,476
Ensembl chr 7:56,094,567...56,106,479 		JBrowse link
G CHMP2B charged multivesicular body protein 2B IAGP HPO MIM:600795 NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO MIM:601462 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 IAGP HPO MIM:615651 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650 		JBrowse link
G CLEC3B C-type lectin domain family 3 member B IAGP HPO MIM:619977 NCBI chr 3:45,026,303...45,036,071
Ensembl chr 3:45,001,548...45,036,071 		JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP HPO MIM:204300 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO MIM:602668 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:618564 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO MIM:620666 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G CORIN corin, serine peptidase IAGP HPO MIM:620734 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO MIM:608810 MIM:615184 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO MIM:221820 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CTNNA1 catenin alpha 1 IAGP HPO MIM:608970 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP HPO MIM:619132 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:270800 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DAB1 DAB adaptor protein 1 IAGP HPO MIM:615945 NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734 		JBrowse link
G DES desmin IAGP HPO MIM:181400 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO MIM:617070 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 IAGP HPO MIM:620326 NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO MIM:610708 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO MIM:604121 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DRD5 dopamine receptor D5 IAGP HPO MIM:606798 NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009 		JBrowse link
G DSC2 desmocollin 2 IAGP HPO MIM:610476 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG2 desmoglein 2 IAGP HPO MIM:610193 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP HPO MIM:615812 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO MIM:234810 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP HPO MIM:614251 NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO MIM:133190 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 IAGP HPO MIM:615957 NCBI chr 6:53,267,404...53,348,950
Ensembl chr 6:53,267,398...53,349,179 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO MIM:613244 NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP HPO MIM:615515 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:617046 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FAT2 FAT atypical cadherin 2 IAGP HPO MIM:617769 NCBI chr 5:151,504,092...151,594,819
Ensembl chr 5:151,504,092...151,591,331 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO MIM:608895 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:129600 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FDPS farnesyl diphosphate synthase IAGP HPO MIM:616631 NCBI chr 1:155,308,866...155,320,665
Ensembl chr 1:155,308,748...155,320,666 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300695 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKTN fukutin IAGP HPO MIM:611615 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNC filamin C IAGP HPO MIM:617047 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FTL ferritin light chain IAGP HPO MIM:606159 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP HPO MIM:300908 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GANAB glucosidase II alpha subunit IAGP HPO MIM:600666 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726 		JBrowse link
G GATAD1 GATA zinc finger domain containing 1 IAGP HPO MIM:614672 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:263570 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO MIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:614049 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GNB4 G protein subunit beta 4 IAGP HPO MIM:615185 NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO MIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase IAGP HPO MIM:604931 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO MIM:618398 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:616544 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G HKDC1 hexokinase domain containing 1 IAGP HPO MIM:619614 NCBI chr10:69,220,332...69,267,552
Ensembl chr10:69,220,332...69,267,552 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO MIM:123400 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase IAGP HPO MIM:620375 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO MIM:615424 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 IAGP HPO MIM:606595 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO MIM:616873 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IL10 interleukin 10 IAGP DNA:SNP:promoter:-1082G>A RGD PMID:11298547 RGD:7829824 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO MIM:616152 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G ITM2B integral membrane protein 2B IAGP HPO MIM:616079 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:117360 MIM:606658 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP HPO MIM:620111 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:263300 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G JPH3 junctophilin 3 IAGP HPO MIM:606438 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO MIM:612240 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP HPO MIM:605259 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP HPO MIM:607346 MIM:616399 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO MIM:611493 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381 		JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO MIM:613239 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:613980 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:607554 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO MIM:118210 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO MIM:617921 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		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 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 LAMA4 laminin subunit alpha 4 IAGP HPO MIM:615235 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LGI1 leucine rich glioma inactivated 1 IAGP HPO MIM:600512 NCBI chr10:93,757,936...93,798,159
Ensembl chr10:93,757,840...93,806,272 		JBrowse link
G LITAF lipopolysaccharide induced TNF factor IAGP HPO MIM:601098 NCBI chr16:11,547,722...11,640,317
Ensembl chr16:11,546,875...11,636,381 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:115200 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO MIM:256020 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOX lysyl oxidase IAGP HPO MIM:617168 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G LRIF1 ligand dependent nuclear receptor interacting factor 1 IAGP HPO MIM:619477 NCBI chr 1:110,874,957...110,963,922
Ensembl chr 1:110,947,190...110,963,965 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO MIM:164310 MIM:620452 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP HPO MIM:147630 NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MAK male germ cell associated kinase IAGP HPO MIM:614181 NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP HPO MIM:619808 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:600274 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MARCHF6 membrane associated ring-CH-type finger 6 IAGP HPO MIM:613608 NCBI chr 5:10,353,695...10,440,388
Ensembl chr 5:10,353,695...10,440,388 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO MIM:616280 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611390 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MATR3 matrin 3 IAGP HPO MIM:606070 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO MIM:619975 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO MIM:616170 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034 		JBrowse link
G MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 IAGP HPO MIM:600512 NCBI chr 6:109,444,062...109,465,968
Ensembl chr 6:109,444,062...109,465,968 		JBrowse link
G MIEF1 mitochondrial elongation factor 1 IAGP HPO MIM:620550 NCBI chr22:39,500,100...39,518,132
Ensembl chr22:39,499,432...39,518,132 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO MIM:158320 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO MIM:617017 MIM:617018 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G MOCOS molybdenum cofactor sulfurase IAGP HPO MIM:603592 NCBI chr18:36,187,497...36,272,157
Ensembl chr18:36,187,497...36,272,157 		JBrowse link
G MPZ myelin protein zero IAGP HPO MIM:607736 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO MIM:158320 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH3 mutS homolog 3 IAGP HPO MIM:617100 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO MIM:613252 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO MIM:618317 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G MYPN myopalladin IAGP HPO MIM:615248 MIM:617336 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP HPO MIM:620365 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:616491 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:617882 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:617892 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP HPO MIM:613122 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162210 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NOL3 nucleolar protein 3 IAGP HPO MIM:614937 NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO MIM:619473 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:125310 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO MIM:612201 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NPTX1 neuronal pentraxin 1 IAGP HPO MIM:620158 NCBI chr17:80,466,834...80,476,607
Ensembl chr17:80,466,834...80,477,843 		JBrowse link
G NRL neural retina leucine zipper IAGP HPO MIM:613750 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA IAGP HPO MIM:266120 NCBI chr 7:33,014,113...33,062,776
Ensembl chr 7:33,014,113...33,062,796 		JBrowse link
G OPTN optineurin IAGP HPO MIM:613435 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G OXGR1 oxoglutarate receptor 1 IAGP HPO MIM:620374 NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730 		JBrowse link
G PDE8B phosphodiesterase 8B IAGP HPO MIM:609161 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:615483 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:615007 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO MIM:300905 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PDYN prodynorphin IAGP HPO MIM:610245 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP HPO MIM:300559 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO MIM:615399 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO MIM:613095 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		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 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP HPO MIM:615376 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G PLN phospholamban IAGP HPO MIM:613874 NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit severity
onset		 IAGP DNA:missense mutation:CDS:multiple
DNA:mutations:multiple 		RGD PMID:32859741 PMID:28404093 RGD:151347638, RGD:151347649 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:157640 MIM:258450 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO MIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G POPDC1 popeye domain cAMP effector 1 IAGP HPO MIM:616812 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157 		JBrowse link
G POT1 protection of telomeres 1 IAGP HPO MIM:620367 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO MIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:123400 MIM:606688 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:619491 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO MIM:600274 MIM:613694 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 IAGP HPO MIM:606889 MIM:613697 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO MIM:617931 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP HPO MIM:232600 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP HPO MIM:311510 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO MIM:615916 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 IAGP HPO MIM:620102 NCBI chr19:3,769,089...3,772,228
Ensembl chr19:3,769,089...3,772,228 		JBrowse link
G RBM12 RNA binding motif protein 12 IAGP HPO MIM:617629 NCBI chr20:35,648,925...35,664,900
Ensembl chr20:35,648,925...35,664,956 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO MIM:610250 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RELN reelin IAGP HPO MIM:600512 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 IAGP HPO MIM:607017 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO MIM:616479 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RNF170 ring finger protein 170 IAGP HPO MIM:608984 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G RP1L1 RP1 like 1 IAGP HPO MIM:613587 NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		JBrowse link
G RPA1 replication protein A1 IAGP HPO MIM:619767 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO MIM:300029 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 IAGP HPO MIM:620647 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO MIM:613077 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SAMD7 sterile alpha motif domain containing 7 IAGP HPO MIM:620762 NCBI chr 3:169,911,572...169,939,175
Ensembl chr 3:169,911,572...169,939,175 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:619806 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO MIM:615377 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP HPO MIM:615378 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP HPO MIM:613120 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO MIM:614022 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO MIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO MIM:224100 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO MIM:619611 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:607616 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO MIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SNCA synuclein alpha IAGP HPO MIM:605543 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO MIM:614561 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO MIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP HPO MIM:613640 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP HPO MIM:619714 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO MIM:617900 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:607136 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TBX18 T-box transcription factor 18 IAGP HPO MIM:143400 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598 		JBrowse link
G TENM4 teneurin transmembrane protein 4 IAGP HPO MIM:616736 NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:613989 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO MIM:121820 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
G TGM6 transglutaminase 6 IAGP HPO MIM:613908 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO MIM:618734 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO MIM:619825 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO MIM:619133 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO MIM:617069 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP HPO MIM:607454 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP HPO MIM:611879 MIM:613243 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO MIM:613286 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO MIM:115195 MIM:601494 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TOR1A torsin family 1 member A IAGP HPO MIM:128100 NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244 		JBrowse link
G TPM1 tropomyosin 1 IAGP HPO MIM:611878 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO MIM:620253 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP HPO MIM:105500 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO MIM:620456 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795 		JBrowse link
G TTC19 tetratricopeptide repeat domain 19 IAGP HPO MIM:615157 NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP HPO MIM:615860 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079 		JBrowse link
G TTN titin IAGP HPO MIM:604145 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TUBA4A tubulin alpha 4a IAGP HPO MIM:616208 NCBI chr 2:219,249,710...219,254,740
Ensembl chr 2:219,249,710...219,277,902 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301054 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO MIM:300857 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UMOD uromodulin IAGP HPO MIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
G UNC119 unc-119 lipid binding chaperone IAGP HPO MIM:620342 NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP HPO MIM:619279 NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO MIM:620227 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO MIM:182980 MIM:608627 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCL vinculin IAGP HPO MIM:611407 MIM:613255 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VCP valosin containing protein IAGP HPO MIM:167320 MIM:613954 MIM:616687 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VEZF1 vascular endothelial zinc finger 1 IAGP HPO MIM:620247 NCBI chr17:57,971,552...57,988,254
Ensembl chr17:57,971,547...57,988,259 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO MIM:200150 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO MIM:616840 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO MIM:620542 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO MIM:603563 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO MIM:616468 MIM:616469 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
Young adult onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAAS aladin WD repeat nucleoporin IAGP HPO MIM:231550 NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864 		JBrowse link
G AAGAB alpha and gamma adaptin binding protein IAGP HPO MIM:148600 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO MIM:613287 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:615889 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ABCA4 ATP binding cassette subfamily A member 4 IAGP HPO MIM:604116 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148 		JBrowse link
G ABHD12 abhydrolase domain containing 12, lysophospholipase IAGP HPO MIM:612674 NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835 		JBrowse link
G ACR acrosin IAGP HPO MIM:620500 NCBI chr22:50,738,204...50,745,339
Ensembl chr22:50,738,196...50,745,339 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:616852 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO MIM:612098 MIM:613424 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO MIM:604717 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ACTL7A actin like 7A IAGP HPO MIM:620499 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO MIM:612158 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO MIM:300985 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP HPO MIM:610246 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:102200 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AK7 adenylate kinase 7 IAGP HPO MIM:617965 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427 		JBrowse link
G AKAP3 A-kinase anchoring protein 3 IAGP HPO MIM:620353 NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051 		JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO MIM:601162 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		JBrowse link
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP HPO MIM:271980 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO MIM:614307 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G ANLN anillin, actin binding protein IAGP HPO MIM:616032 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		JBrowse link
G ANO10 anoctamin 10 IAGP HPO MIM:613728 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G ANO3 anoctamin 3 IAGP HPO MIM:615034 NCBI chr11:26,188,808...26,663,289
Ensembl chr11:26,188,842...26,663,289 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO MIM:611307 MIM:613319 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANXA5 annexin A5 IAGP HPO MIM:614391 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP HPO MIM:619565 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:135290 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO MIM:618463 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		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 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 ARL2BP ARF like GTPase 2 binding protein IAGP HPO MIM:615434 NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G ARMC12 armadillo repeat containing 12 IAGP HPO MIM:620744 NCBI chr 6:35,731,524...35,749,079
Ensembl chr 6:35,737,032...35,749,079 		JBrowse link
G ASTL astacin like metalloendopeptidase IAGP HPO MIM:619643 NCBI chr 2:96,122,818...96,138,564
Ensembl chr 2:96,122,818...96,138,502 		JBrowse link
G ATL1 atlastin GTPase 1 IAGP HPO MIM:613708 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G ATL3 atlastin GTPase 3 IAGP HPO MIM:615632 NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921 		JBrowse link
G ATN1 atrophin 1 IAGP HPO MIM:125370 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO MIM:619810 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO MIM:606693 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO MIM:602481 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 MIM:128235 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6V0A1 ATPase H+ transporting V0 subunit a1 IAGP HPO MIM:619971 NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582 		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 ATXN10 ataxin 10 IAGP HPO MIM:603516 NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:183090 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G AURKC aurora kinase C IAGP HPO MIM:243060 NCBI chr19:57,231,023...57,235,548
Ensembl chr19:57,231,009...57,235,548 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO MIM:613881 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 MIM:619747 NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO MIM:614327 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO MIM:616562 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:613375 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP HPO MIM:178600 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G BPY2 basic charge Y-linked 2 IAGP HPO MIM:415000 NCBI chr  Y:22,984,263...23,005,465
Ensembl chr  Y:22,973,819...23,005,465 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:612555 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRDT bromodomain testis associated IAGP HPO MIM:617644 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G C14orf39 chromosome 14 open reading frame 39 IAGP HPO MIM:619202 NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO MIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 IAGP HPO MIM:619805 NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO MIM:141500 MIM:183086 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 IAGP HPO MIM:613855 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167 		JBrowse link
G CAPN1 calpain 1 IAGP HPO MIM:616907 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CAPN3 calpain 3 IAGP HPO MIM:618129 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CAPNS1 calpain small subunit 1 IAGP HPO MIM:620777 NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO MIM:300908 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CASQ2 calsequestrin 2 IAGP HPO MIM:604772 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921 		JBrowse link
G CASR calcium sensing receptor IAGP HPO MIM:601198 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO MIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP HPO MIM:612997 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO MIM:612997 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:606721 MIM:615343 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:619845 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO MIM:620084 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO MIM:613807 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC62 coiled-coil domain containing 62 IAGP HPO MIM:619803 NCBI chr12:122,774,572...122,827,528
Ensembl chr12:122,774,526...122,827,528 		JBrowse link
G CCND1 cyclin D1 IAGP HPO MIM:193300 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CD164 CD164 molecule IAGP HPO MIM:616969 NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467 		JBrowse link
G CDC20 cell division cycle 20 IAGP HPO MIM:620276 NCBI chr 1:43,358,981...43,363,203
Ensembl chr 1:43,358,981...43,363,203 		JBrowse link
G CDH2 cadherin 2 IAGP HPO MIM:618920 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G CDY1 chromodomain Y-linked 1 IAGP HPO MIM:415000 NCBI chr  Y:25,622,115...25,625,511
Ensembl chr  Y:25,622,117...25,624,902 		JBrowse link
G CDY2A chromodomain Y-linked 2A IAGP HPO MIM:415000 NCBI chr  Y:18,025,787...18,027,746
Ensembl chr  Y:18,025,787...18,027,746 		JBrowse link
G CEL carboxyl ester lipase IAGP HPO MIM:609812 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CEP78 centrosomal protein 78 IAGP HPO MIM:617236 NCBI chr 9:78,236,075...78,279,690
Ensembl chr 9:78,236,062...78,279,690 		JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP HPO MIM:618152 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927 		JBrowse link
G CFAP43 cilia and flagella associated protein 43 IAGP HPO MIM:617592 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364 		JBrowse link
G CFAP44 cilia and flagella associated protein 44 IAGP HPO MIM:617593 NCBI chr 3:113,286,930...113,441,514
Ensembl chr 3:113,286,930...113,441,610 		JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO MIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703 		JBrowse link
G CFI complement factor I IAGP HPO MIM:612923 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CHEK1 checkpoint kinase 1 IAGP HPO MIM:620610 NCBI chr11:125,625,136...125,681,124
Ensembl chr11:125,625,163...125,676,255 		JBrowse link
G CIB1 calcium and integrin binding 1 IAGP HPO MIM:618267 NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047 		JBrowse link
G CLCN1 chloride voltage-gated channel 1 IAGP HPO MIM:255700 NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083 		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 CLN6 CLN6 transmembrane ER protein IAGP HPO MIM:204300 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211 		JBrowse link
G COCH cochlin IAGP HPO MIM:601369 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:604864 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:618564 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO MIM:616411 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO MIM:620666 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G COQ8B coenzyme Q8B IAGP HPO MIM:615573 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO MIM:121300 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:255110 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRYBA2 crystallin beta A2 IAGP HPO MIM:115900 NCBI chr 2:218,990,190...218,993,422
Ensembl chr 2:218,990,189...218,993,422 		JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO MIM:301106 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398 		JBrowse link
G CTNNA1 catenin alpha 1 IAGP HPO MIM:608970 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO MIM:219750 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTSF cathepsin F IAGP HPO MIM:615362 NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP HPO MIM:619132 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP HPO MIM:270800 NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737 		JBrowse link
G DAB1 DAB adaptor protein 1 IAGP HPO MIM:615945 NCBI chr 1:56,994,778...58,546,726
Ensembl chr 1:56,994,778...58,546,734 		JBrowse link
G DAZ1 deleted in azoospermia 1 IAGP HPO MIM:415000 NCBI chr  Y:23,129,355...23,199,094
Ensembl chr  Y:23,129,355...23,199,010 		JBrowse link
G DAZ2 deleted in azoospermia 2 IAGP HPO MIM:415000 NCBI chr  Y:23,219,457...23,291,356
Ensembl chr  Y:23,219,447...23,291,356 		JBrowse link
G DAZ3 deleted in azoospermia 3 IAGP HPO MIM:415000 NCBI chr  Y:24,763,069...24,813,393
Ensembl chr  Y:24,763,069...24,813,492 		JBrowse link
G DDX3Y DEAD-box helicase 3 Y-linked IAGP HPO MIM:415000 NCBI chr  Y:12,903,999...12,920,478
Ensembl chr  Y:12,904,108...12,920,478 		JBrowse link
G DES desmin IAGP HPO MIM:181400 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO MIM:617070 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP HPO MIM:615025 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP HPO MIM:614152 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062 		JBrowse link
G DIAPH2 diaphanous related formin 2 IAGP HPO MIM:300511 NCBI chr  X:96,684,842...97,604,997
Ensembl chr  X:96,684,712...97,604,997 		JBrowse link
G DIAPH3 diaphanous related formin 3 IAGP HPO MIM:609129 NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO MIM:615156 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO MIM:617576 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO MIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396 		JBrowse link
G DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 IAGP HPO MIM:614881 NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898 		JBrowse link
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 IAGP HPO MIM:620326 NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP HPO MIM:603511 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO MIM:619382 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP HPO MIM:162350 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031 		JBrowse link
G DNALI1 dynein axonemal light intermediate chain 1 IAGP HPO MIM:620354 NCBI chr 1:37,556,940...37,566,857
Ensembl chr 1:37,556,919...37,566,857 		JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO MIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO MIM:604121 MIM:614116 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DPY19L2 dpy-19 like 2 IAGP HPO MIM:613958 NCBI chr12:63,558,913...63,668,805
Ensembl chr12:63,558,913...63,668,939 		JBrowse link
G DRAM2 DNA damage regulated autophagy modulator 2 IAGP HPO MIM:616502 NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO MIM:620222 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G DSC2 desmocollin 2 IAGP HPO MIM:610476 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG2 desmoglein 2 IAGP HPO MIM:610193 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DTNA dystrobrevin alpha IAGP HPO MIM:604169 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP HPO MIM:615812 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G DYSF dysferlin IAGP HPO MIM:253601 MIM:606768 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO MIM:234810 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP HPO MIM:620313 NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
G ELMOD3 ELMO domain containing 3 IAGP HPO MIM:619500 NCBI chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752 		JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO MIM:133190 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 IAGP HPO MIM:615957 NCBI chr 6:53,267,404...53,348,950
Ensembl chr 6:53,267,398...53,349,179 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO MIM:611783 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G EPHA10 EPH receptor A10 IAGP HPO MIM:620283 NCBI chr 1:37,713,880...37,765,120
Ensembl chr 1:37,713,880...37,765,133 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:616946 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP HPO MIM:620512 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO MIM:614390 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP HPO MIM:614389 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FANCM FA complementation group M IAGP HPO MIM:618086 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:617046 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO MIM:608895 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:129600 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBXO43 F-box protein 43 IAGP HPO MIM:619696 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817 		JBrowse link
G FDPS farnesyl diphosphate synthase IAGP HPO MIM:616631 NCBI chr 1:155,308,866...155,320,665
Ensembl chr 1:155,308,748...155,320,666 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300695 MIM:300696 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO MIM:620103 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FKTN fukutin IAGP HPO MIM:611615 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNC filamin C IAGP HPO MIM:614065 MIM:617047 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FN1 fibronectin 1 IAGP HPO MIM:601894 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO MIM:601631 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXL1 forkhead box L1 IAGP HPO MIM:620576 NCBI chr16:86,578,549...86,583,478
Ensembl chr16:86,576,368...86,583,478 		JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO MIM:229070 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261 		JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO MIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP HPO MIM:300908 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GAA alpha glucosidase IAGP HPO MIM:232300 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO MIM:301091 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GALC galactosylceramidase IAGP HPO MIM:245200 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GANAB glucosidase II alpha subunit IAGP HPO MIM:600666 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP HPO MIM:600794 MIM:601472 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 IAGP HPO MIM:606483 NCBI chr10:102,230,643...102,382,896
Ensembl chr10:102,245,371...102,382,899 		JBrowse link
G GCK glucokinase IAGP HPO MIM:602485 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GCNA germ cell nuclear acidic peptidase IAGP HPO MIM:301077 NCBI chr  X:71,578,437...71,613,583
Ensembl chr  X:71,578,437...71,613,583 		JBrowse link
G GDF9 growth differentiation factor 9 IAGP HPO MIM:618014 NCBI chr 5:132,861,185...132,866,651
Ensembl chr 5:132,861,181...132,866,884 		JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO MIM:610842 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
G GGN gametogenetin IAGP HPO MIM:619826 NCBI chr19:38,384,267...38,388,384
Ensembl chr19:38,384,267...38,388,082 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO MIM:618940 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GJC2 gap junction protein gamma 2 IAGP HPO MIM:613480 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826 		JBrowse link
G GNB4 G protein subunit beta 4 IAGP HPO MIM:615185 NCBI chr 3:179,396,088...179,527,798
Ensembl chr 3:179,396,088...179,451,476 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP RGD PMID:10522893 RGD:1358638 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO MIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO MIM:613313 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO MIM:618398 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP HPO MIM:615724 NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO MIM:137200 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO MIM:602390 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:617460 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G HKDC1 hexokinase domain containing 1 IAGP HPO MIM:619614 NCBI chr10:69,220,332...69,267,552
Ensembl chr10:69,220,332...69,267,552 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO MIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO MIM:615424 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO MIM:620460 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO MIM:300322 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G HSFY1 heat shock transcription factor Y-linked 1 IAGP HPO MIM:415000 NCBI chr  Y:18,529,643...18,588,963
Ensembl chr  Y:18,546,691...18,588,963 		JBrowse link
G HSPB3 heat shock protein family B (small) member 3 IAGP HPO MIM:613376 NCBI chr 5:54,455,699...54,456,377
Ensembl chr 5:54,455,699...54,456,377 		JBrowse link
G HSPB8 heat shock protein family B (small) member 8 IAGP HPO MIM:608673 NCBI chr12:119,178,931...119,194,746
Ensembl chr12:119,171,555...119,224,855 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO MIM:607594 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO MIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:182250 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:617781 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO MIM:619585 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO MIM:616873 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO MIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 IAGP HPO MIM:616152 NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575 		JBrowse link
G INF2 inverted formin 2 IAGP HPO MIM:614455 NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G INSR insulin receptor IAGP HPO MIM:609968 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G IQCN IQ motif containing N IAGP HPO MIM:620170 NCBI chr19:18,257,098...18,274,452
Ensembl chr19:18,257,098...18,274,500 		JBrowse link
G ITM2B integral membrane protein 2B IAGP HPO MIM:616079 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:606658 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP HPO MIM:620111 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G JPH2 junctophilin 2 IAGP HPO MIM:613873 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G KASH5 KASH domain containing 5 IAGP HPO MIM:620547 MIM:620548 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KCNC3 potassium voltage-gated channel subfamily C member 3 IAGP HPO MIM:605259 NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP HPO MIM:607346 MIM:616399 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO MIM:613239 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:607554 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNU1 potassium calcium-activated channel subfamily U member 1 IAGP HPO MIM:620196 NCBI chr 8:36,784,374...36,936,125
Ensembl chr 8:36,784,324...36,936,125 		JBrowse link
G KDM5D lysine demethylase 5D IAGP HPO MIM:415000 NCBI chr  Y:19,703,865...19,744,726
Ensembl chr  Y:19,703,865...19,744,939 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO MIM:617921 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KLHL24 kelch like family member 24 IAGP HPO MIM:620236 NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519 		JBrowse link
G KLHL3 kelch like family member 3 IAGP HPO MIM:614495 NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089 		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 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 KPNA7 karyopherin subunit alpha 7 IAGP HPO MIM:620319 NCBI chr 7:99,145,804...99,219,419
Ensembl chr 7:99,173,572...99,250,075 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP HPO MIM:615235 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LGI1 leucine rich glioma inactivated 1 IAGP HPO MIM:600512 NCBI chr10:93,757,936...93,798,159
Ensembl chr10:93,757,840...93,806,272 		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 LMF1 lipase maturation factor 1 IAGP HPO MIM:246650 NCBI chr16:853,634...981,613
Ensembl chr16:853,634...981,318 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:115200 MIM:151660 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO MIM:256020 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOX lysyl oxidase IAGP HPO MIM:617168 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G LPL lipoprotein lipase IAGP HPO MIM:238600 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO MIM:164310 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LYST lysosomal trafficking regulator IAGP HPO MIM:214500 NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP HPO MIM:147630 NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO MIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAGT1 magnesium transporter 1 IAGP HPO MIM:300853 NCBI chr  X:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G MAK male germ cell associated kinase IAGP HPO MIM:614181 NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553 		JBrowse link
G MANF mesencephalic astrocyte derived neurotrophic factor IAGP HPO MIM:620651 NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397 		JBrowse link
G MAP1B microtubule associated protein 1B IAGP HPO MIM:619808 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 IAGP HPO MIM:617111 NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291 		JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 IAGP HPO MIM:617271 NCBI chr15:41,774,484...41,827,855
Ensembl chr15:41,774,434...41,827,855 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:260540 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MARCHF6 membrane associated ring-CH-type finger 6 IAGP HPO MIM:613608 NCBI chr 5:10,353,695...10,440,388
Ensembl chr 5:10,353,695...10,440,388 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:611390 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MATR3 matrin 3 IAGP HPO MIM:606070 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO MIM:619975 NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase IAGP HPO MIM:620583 NCBI chr22:43,132,206...43,143,398
Ensembl chr22:43,132,209...43,143,398 		JBrowse link
G MCM6 minichromosome maintenance complex component 6 IAGP HPO MIM:223100 NCBI chr 2:135,839,626...135,876,443
Ensembl chr 2:135,839,626...135,876,443 		JBrowse link
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO MIM:620629 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO MIM:249100 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 IAGP HPO MIM:618431 NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456 		JBrowse link
G MEIOB meiosis specific with OB-fold IAGP HPO MIM:617706 MIM:620686 NCBI chr16:1,833,986...1,872,164
Ensembl chr16:1,833,986...1,884,294 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO MIM:151800 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		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 MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO MIM:615084 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 IAGP HPO MIM:600512 NCBI chr 6:109,444,062...109,465,968
Ensembl chr 6:109,444,062...109,465,968 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein IAGP HPO MIM:614250 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372 		JBrowse link
G MORC2 MORC family CW-type zinc finger 2 IAGP HPO MIM:616688 NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774 		JBrowse link
G MOS MOS proto-oncogene, serine/threonine kinase IAGP HPO MIM:620383 NCBI chr 8:56,112,942...56,113,982
Ensembl chr 8:56,112,942...56,113,982 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP HPO MIM:619878 NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MSH3 mutS homolog 3 IAGP HPO MIM:617100 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
G MSH4 mutS homolog 4 IAGP HPO MIM:108420 MIM:619938 NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242 		JBrowse link
G MSH5 mutS homolog 5 IAGP HPO MIM:619937 NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:615396 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO MIM:613251 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYL4 myosin light chain 4 IAGP HPO MIM:617280 NCBI chr17:47,189,433...47,227,650
Ensembl chr17:47,200,446...47,223,679 		JBrowse link
G MYPN myopalladin IAGP HPO MIM:615248 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP HPO MIM:620365 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:616491 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NEFL neurofilament light chain IAGP HPO MIM:617882 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP HPO MIM:613122 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162210 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO MIM:101000 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598 		JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:620681 NCBI chr 6:18,120,440...18,122,677
Ensembl chr 6:18,120,440...18,122,677 		JBrowse link
G NLRP2 NLR family pyrin domain containing 2 IAGP HPO MIM:620332 NCBI chr19:54,965,284...55,001,138
Ensembl chr19:54,953,130...55,001,142 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO MIM:148200 MIM:617772 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP HPO MIM:620333 NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 IAGP HPO MIM:231090 NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312 		JBrowse link
G NOL3 nucleolar protein 3 IAGP HPO MIM:614937 NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO MIM:619473 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:125310 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP HPO MIM:257220 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO MIM:266900 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO MIM:612201 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NPTX1 neuronal pentraxin 1 IAGP HPO MIM:620158 NCBI chr17:80,466,834...80,476,607
Ensembl chr17:80,466,834...80,477,843 		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 NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP HPO MIM:611131 NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO MIM:615962 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NRL neural retina leucine zipper IAGP HPO MIM:613750 NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP HPO MIM:613162 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO MIM:620235 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G OPTN optineurin IAGP HPO MIM:613435 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G OXGR1 oxoglutarate receptor 1 IAGP HPO MIM:620374 NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO MIM:234200 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PATL2 PAT1 homolog 2 IAGP HPO MIM:617743 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323 		JBrowse link
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
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO MIM:620680 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO MIM:610475 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:615483 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:615007 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 IAGP HPO MIM:619828 NCBI chr 4:95,840,093...95,841,464
Ensembl chr 4:95,840,093...95,841,464 		JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO MIM:613095 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		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 PKP2 plakophilin 2 IAGP HPO MIM:609040 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO MIM:612953 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLCZ1 phospholipase C zeta 1 IAGP HPO MIM:617214 NCBI chr12:18,645,609...18,738,012
Ensembl chr12:18,683,169...18,738,100 		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 PLIN1 perilipin 1 IAGP HPO MIM:613877 NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
G PLN phospholamban IAGP HPO MIM:609909 NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP HPO MIM:162500 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
G PMVK phosphomevalonate kinase IAGP HPO MIM:175800 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP HPO MIM:619528 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO MIM:275400 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POF1B POF1B actin binding protein IAGP HPO MIM:300604 NCBI chr  X:85,277,396...85,379,665
Ensembl chr  X:85,277,396...85,379,717 		JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO MIM:617232 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit onset IAGP DNA:mutations:multiple RGD PMID:27244218 RGD:151356953 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:258450 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO MIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G POT1 protection of telomeres 1 IAGP HPO MIM:620367 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO MIM:604367 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO MIM:176200 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO MIM:618420 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRDM10 PR/SET domain 10 IAGP HPO MIM:620459 NCBI chr11:129,899,711...130,002,835
Ensembl chr11:129,899,706...130,002,835 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO MIM:615373 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO MIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRDX3 peroxiredoxin 3 IAGP HPO MIM:619862 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO MIM:194200 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:610489 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRLR prolactin receptor IAGP HPO MIM:615555 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:603218 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PRPF4 pre-mRNA splicing tri-snRNP complex factor PRPF4 IAGP HPO MIM:615922 NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009 		JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP HPO MIM:613983 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100 		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 PRY PTPN13 like Y-linked IAGP HPO MIM:415000 NCBI chr  Y:22,490,397...22,514,637
Ensembl chr  Y:22,490,397...22,514,637 		JBrowse link
G PRY2 PTPN13 like Y-linked 2 IAGP HPO MIM:415000 NCBI chr  Y:22,071,706...22,084,875
Ensembl chr  Y:22,071,756...22,096,007 		JBrowse link
G PSAP prosaposin IAGP HPO MIM:619491 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP HPO MIM:615935 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO MIM:617931 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
G QRICH2 glutamine rich 2 IAGP HPO MIM:618341 NCBI chr17:76,274,049...76,310,964
Ensembl chr17:76,274,049...76,308,276 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP HPO MIM:311510 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO MIM:615916 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RBM12 RNA binding motif protein 12 IAGP HPO MIM:617629 NCBI chr20:35,648,925...35,664,900
Ensembl chr20:35,648,925...35,664,956 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP HPO MIM:613172 NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471 		JBrowse link
G RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 IAGP HPO MIM:415000 NCBI chr  Y:21,534,879...21,559,683
Ensembl chr  Y:21,534,879...21,549,326 		JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO MIM:610250 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083 		JBrowse link
G RELN reelin IAGP HPO MIM:600512 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:171400 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO MIM:616298 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO MIM:619790 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 IAGP HPO MIM:607017 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170 		JBrowse link
G RP1 RP1 axonemal microtubule associated IAGP HPO MIM:180100 NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720 		JBrowse link
G RP1L1 RP1 like 1 IAGP HPO MIM:613587 NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP HPO MIM:312600 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO MIM:304020 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RPL10L ribosomal protein L10 like IAGP HPO MIM:619689 NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS4Y2 ribosomal protein S4 Y-linked 2 IAGP HPO MIM:415000 NCBI chr  Y:20,756,108...20,781,032
Ensembl chr  Y:20,756,108...20,781,032 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 IAGP HPO MIM:620647 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO MIM:613077 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP HPO MIM:604772 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SAMD7 sterile alpha motif domain containing 7 IAGP HPO MIM:620762 NCBI chr 3:169,911,572...169,939,175
Ensembl chr 3:169,911,572...169,939,175 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO MIM:609634 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO MIM:608390 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO MIM:601154 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO MIM:618114 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO MIM:168000 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO MIM:224100 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:617056 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SEPTIN12 septin 12 IAGP HPO MIM:614822 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398 		JBrowse link
G SERPING1 serpin family G member 1 IAGP HPO MIM:106100 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO MIM:610504 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G SETX senataxin IAGP HPO MIM:602433 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SFTPA1 surfactant protein A1 IAGP HPO MIM:619611 NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SGCD sarcoglycan delta IAGP HPO MIM:606685 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SGO1 shugoshin 1 IAGP HPO MIM:616201 NCBI chr 3:20,160,593...20,186,886
Ensembl chr 3:20,160,593...20,186,206 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO MIM:118400 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO MIM:613950 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SHOC1 shortage in chiasmata 1 IAGP HPO MIM:619949 NCBI chr 9:111,686,171...111,794,937
Ensembl chr 9:111,686,171...111,795,008 		JBrowse link
G SLC17A9 solute carrier family 17 member 9 IAGP HPO MIM:616063 NCBI chr20:62,952,709...62,969,585
Ensembl chr20:62,952,707...62,969,585 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO MIM:249270 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP HPO MIM:607483 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO MIM:609283 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP HPO MIM:620372 NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440 		JBrowse link
G SLC26A8 solute carrier family 26 member 8 IAGP HPO MIM:606766 NCBI chr 6:35,943,516...36,024,641
Ensembl chr 6:35,943,516...36,024,868 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO MIM:208050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO MIM:265100 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:144755 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC44A4 solute carrier family 44 member 4 IAGP HPO MIM:617606 NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO MIM:612653 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SLC4A11 solute carrier family 4 member 11 IAGP HPO MIM:217400 NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559 		JBrowse link
G SLC4A3 solute carrier family 4 member 3 IAGP HPO MIM:620231 NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980 		JBrowse link
G SLC7A6OS solute carrier family 7 member 6 opposite strand IAGP HPO MIM:619191 NCBI chr16:68,298,034...68,310,946
Ensembl chr16:68,284,503...68,310,946 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO MIM:167100 MIM:614441 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619656 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMN1 survival of motor neuron 1, telomeric IAGP HPO MIM:271150 NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942
Ensembl chr 5:70,925,030...70,953,942 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO MIM:607616 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO MIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SNCA synuclein alpha IAGP HPO MIM:168601 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO MIM:614561 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO MIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G SOD2 superoxide dismutase 2 IAGP RGD PMID:11836586 RGD:1581258 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP HPO MIM:618115 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SOX17 SRY-box transcription factor 17 IAGP DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple RGD PMID:29650961 RGD:329853735 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G SPACA1 sperm acrosome associated 1 IAGP HPO MIM:620490 NCBI chr 6:88,046,901...88,066,838
Ensembl chr 6:88,047,841...88,066,838 		JBrowse link
G SPAG17 sperm associated antigen 17 IAGP HPO MIM:619380 NCBI chr 1:117,953,590...118,185,228
Ensembl chr 1:117,953,590...118,185,228 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:602099 MIM:604360 MIM:616668 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO MIM:607259 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SPINK2 serine peptidase inhibitor Kazal type 2 IAGP HPO MIM:618091 NCBI chr 4:56,809,860...56,821,869
Ensembl chr 4:56,809,860...56,821,742 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 IAGP HPO MIM:616818 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO MIM:620528 MIM:620538 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 IAGP HPO MIM:613640 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		JBrowse link
G SSBP1 single stranded DNA binding protein 1 IAGP HPO MIM:165510 NCBI chr 7:141,738,321...141,750,488
Ensembl chr 7:141,738,334...141,787,922 		JBrowse link
G SSX1 SSX family member 1 IAGP HPO MIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G STAG3 STAG3 cohesin complex component IAGP HPO MIM:615723 NCBI chr 7:100,177,724...100,219,334
Ensembl chr 7:100,177,563...100,214,387 		JBrowse link
G STOX1 storkhead box 1 IAGP HPO MIM:609404 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432 		JBrowse link
G STRC stereocilin IAGP HPO MIM:612997 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP HPO MIM:619714 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM:620343 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SUN5 Sad1 and UNC84 domain containing 5 IAGP HPO MIM:617187 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 IAGP HPO MIM:616950 NCBI chr10:133,553,899...133,568,291
Ensembl chr10:133,553,901...133,569,835 		JBrowse link
G SYCP2 synaptonemal complex protein 2 IAGP HPO MIM:258150 NCBI chr20:59,863,571...59,933,637
Ensembl chr20:59,863,564...59,933,655 		JBrowse link
G SYCP3 synaptonemal complex protein 3 IAGP HPO MIM:270960 NCBI chr12:101,728,648...101,739,462
Ensembl chr12:101,728,648...101,739,472 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b IAGP HPO MIM:615841 NCBI chr18:26,226,445...26,391,685
Ensembl chr18:26,226,445...26,391,685 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO MIM:616044 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:607136 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TBX18 T-box transcription factor 18 IAGP HPO MIM:143400 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO MIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TDRD9 tudor domain containing 9 IAGP HPO MIM:618110 NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667 		JBrowse link
G TECRL trans-2,3-enoyl-CoA reductase like IAGP HPO MIM:614021 NCBI chr 4:64,276,298...64,409,460
Ensembl chr 4:64,275,257...64,409,468 		JBrowse link
G TENM4 teneurin transmembrane protein 4 IAGP HPO MIM:616736 NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 IAGP HPO MIM:619646 NCBI chr16:66,754,640...66,802,025
Ensembl chr16:66,754,640...66,801,620 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 IAGP HPO MIM:619645 NCBI chr15:44,956,687...44,979,229
Ensembl chr15:44,956,687...44,979,229 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:613989 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TEX11 testis expressed 11 IAGP HPO MIM:309120 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP HPO MIM:617707 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP HPO MIM:617960 NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TGFBI transforming growth factor beta induced IAGP HPO MIM:121820 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818 		JBrowse link
G THAP1 THAP domain containing 1 IAGP HPO MIM:602629 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO MIM:619825 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO MIM:619133 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 IAGP HPO MIM:619401 NCBI chr 1:43,300,982...43,323,108
Ensembl chr 1:43,300,982...43,323,108 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP HPO MIM:136900 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO MIM:613990 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TLCD3B TLC domain containing 3B IAGP HPO MIM:619531 NCBI chr16:30,024,427...30,053,040
Ensembl chr16:30,024,427...30,052,978 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO MIM:604400 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TNC tenascin C IAGP HPO MIM:615629 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO MIM:616744 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP HPO MIM:611879 MIM:613243 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO MIM:611880 MIM:613286 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO MIM:115195 MIM:601494 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:620311 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TPM1 tropomyosin 1 IAGP HPO MIM:611878 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TRDN triadin IAGP HPO MIM:604772 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO MIM:254110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO MIM:619011 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRMT5 tRNA methyltransferase 5 IAGP HPO MIM:616539 NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP HPO MIM:603965 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO MIM:620253 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:606071 MIM:617383 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO MIM:618778 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TSGA10 testis specific 10 IAGP HPO MIM:617961 NCBI chr 2:98,997,261...99,154,966
Ensembl chr 2:98,997,261...99,154,964 		JBrowse link
G TTBK2 tau tubulin kinase 2 IAGP HPO MIM:604432 NCBI chr15:42,738,730...42,921,000
Ensembl chr15:42,738,730...42,920,809 		JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP HPO MIM:618429 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903 		JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP HPO MIM:615860 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP HPO MIM:128101 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
G TULP3 TUB like protein 3 IAGP HPO MIM:619902 NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO MIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G UBQLN2 ubiquilin 2 IAGP HPO MIM:300857 NCBI chr  X:56,563,627...56,567,868
Ensembl chr  X:56,563,627...56,567,868 		JBrowse link
G UMOD uromodulin IAGP HPO MIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO MIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO MIM:620227 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP9Y ubiquitin specific peptidase 9 Y-linked IAGP HPO MIM:415000 NCBI chr  Y:12,701,231...12,860,839
Ensembl chr  Y:12,537,650...12,860,839 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO MIM:108600 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO MIM:608627 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCL vinculin IAGP HPO MIM:611407 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VCP valosin containing protein IAGP HPO MIM:616687 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VCY variable charge Y-linked IAGP HPO MIM:415000 NCBI chr  Y:13,985,772...13,986,473
Ensembl chr  Y:13,985,772...13,986,473 		JBrowse link
G VEZF1 vascular endothelial zinc finger 1 IAGP HPO MIM:620247 NCBI chr17:57,971,552...57,988,254
Ensembl chr17:57,971,547...57,988,259 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:193300 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619637 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO MIM:200150 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO MIM:616840 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D IAGP HPO MIM:607317 NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO MIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732 		JBrowse link
G VSX1 visual system homeobox 1 IAGP HPO MIM:148300 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO MIM:603563 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WEE2 WEE2 oocyte meiosis inhibiting kinase IAGP HPO MIM:617996 NCBI chr 7:141,708,353...141,731,271
Ensembl chr 7:141,708,353...141,731,271 		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 XKRY XK related, Y-linked (pseudogene) IAGP HPO MIM:415000 NCBI chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560
Ensembl chr  Y:17,768,980...17,770,560 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO MIM:619146 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G YEATS2 YEATS domain containing 2 IAGP HPO MIM:615127 NCBI chr 3:183,697,797...183,812,624
Ensembl chr 3:183,697,797...183,812,624 		JBrowse link
G ZFP36L2 ZFP36 ring finger protein like 2 IAGP HPO MIM:620154 NCBI chr 2:43,222,402...43,226,606
Ensembl chr 2:43,222,402...43,226,606 		JBrowse link
G ZMYND15 zinc finger MYND-type containing 15 IAGP HPO MIM:615842 NCBI chr17:4,739,833...4,746,119
Ensembl chr17:4,739,833...4,746,119 		JBrowse link
G ZNF408 zinc finger protein 408 IAGP HPO MIM:616469 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912 		JBrowse link
G ZP1 zona pellucida glycoprotein 1 IAGP HPO MIM:615774 NCBI chr11:60,867,542...60,875,687
Ensembl chr11:60,867,542...60,875,693 		JBrowse link
G ZP3 zona pellucida glycoprotein 3 IAGP HPO MIM:617712 NCBI chr 7:76,397,522...76,442,069
Ensembl chr 7:76,397,518...76,442,071 		JBrowse link
G ZPBP zona pellucida binding protein IAGP HPO MIM:619799 NCBI chr 7:49,840,654...50,093,246
Ensembl chr 7:49,850,421...50,121,329 		JBrowse link
G ZSWIM7 zinc finger SWIM-type containing 7 IAGP HPO MIM:619831 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73841
    Clinical modifier 3628
      Clinical course 3580
        Onset 3396
          Adult onset 903
            Late onset 137
            Middle age onset 253
            Young adult onset + 607
paths to the root