Term: Delayed skeletal maturation
Accession: HP:0002750
browse the term
Definition: A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms: exact_synonym: Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation
related_synonym: Retarded ossification
alt_id: HP:0000928; HP:0002806
xref: SNOMEDCT_US:123983008; UMLS:C0541764
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AARS1
alanyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ABCC9
ATP binding cassette subfamily C member 9
IAGP
HPO
OMIM:239850 ORPHA:1517
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ABCD4
ATP binding cassette subfamily D member 4
IAGP
HPO
OMIM:614857
NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055
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ACAN
aggrecan
IAGP
HPO
OMIM:608361
NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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ADAMTSL2
ADAMTS like 2
IAGP
HPO
OMIM:231050
NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
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AGA
aspartylglucosaminidase
IAGP
HPO
OMIM:208400 ORPHA:93
NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
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AHSG
alpha 2-HS glycoprotein
IAGP
HPO
ORPHA:2850
NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
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AIFM1
apoptosis inducing factor mitochondria associated 1
IAGP
HPO
OMIM:300232
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
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ALDH18A1
aldehyde dehydrogenase 18 family member A1
IAGP
HPO
OMIM:219150 OMIM:601162
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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ALG9
ALG9 alpha-1,2-mannosyltransferase
IAGP
HPO
OMIM:608776
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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ALPL
alkaline phosphatase, biomineralization associated
IAGP
ClinVar Annotator: match by term: Delayed skeletal maturation
ClinVar
PMID:1409720 PMID:10332035 PMID:10679946 PMID:11438998 PMID:11855933 PMID:12357339 PMID:15671102 PMID:17719863 PMID:19232125 PMID:19500388 PMID:20739387 PMID:24569605 PMID:25731960 PMID:25741868 PMID:28492532 PMID:29236161 PMID:32160374 PMID:32973344 PMID:33549410 More...
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ANAPC1
anaphase promoting complex subunit 1
IAGP
HPO
OMIM:618625 ORPHA:221008
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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ANKRD11
ankyrin repeat domain containing 11
IAGP
HPO
OMIM:148050 ORPHA:2332
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
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ANKRD17
ankyrin repeat domain 17
IAGP
HPO
OMIM:619504
NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798
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ANOS1
anosmin 1
IAGP
HPO
ORPHA:478
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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ANTXR1
ANTXR cell adhesion molecule 1
IAGP
HPO
OMIM:230740 ORPHA:2067
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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ARID1A
AT-rich interaction domain 1A
IAGP
HPO
OMIM:614607 ORPHA:1465
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ARID1B
AT-rich interaction domain 1B
IAGP
HPO
OMIM:135900 ORPHA:1465
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ARID2
AT-rich interaction domain 2
IAGP
HPO
ORPHA:1465
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ATR
ATR serine/threonine kinase
IAGP
HPO
OMIM:210600 ORPHA:808
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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ATRIP
ATR interacting protein
IAGP
HPO
ORPHA:808
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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ATRX
ATRX chromatin remodeler
IAGP
HPO
OMIM:309580
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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B3GAT3
beta-1,3-glucuronyltransferase 3
IAGP
HPO
OMIM:245600
NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154
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BAZ1B
bromodomain adjacent to zinc finger domain 1B
IAGP
HPO
ORPHA:904
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BCL7B
BAF chromatin remodeling complex subunit BCL7B
IAGP
HPO
ORPHA:904
NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
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BMP15
bone morphogenetic protein 15
IAGP
HPO
ORPHA:243
NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641
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BMP2
bone morphogenetic protein 2
IAGP
HPO
OMIM:617877
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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BMPR1B
bone morphogenetic protein receptor type 1B
IAGP
HPO
OMIM:609441
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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BNC1
basonuclin zinc finger protein 1
IAGP
HPO
ORPHA:243
NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
HPO
OMIM:115150 OMIM:613707
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BRD4
bromodomain containing 4
IAGP
HPO
ORPHA:199
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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BRF1
BRF1 RNA polymerase III transcription initiation factor subunit
IAGP
HPO
OMIM:616202 ORPHA:444072
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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BTK
Bruton tyrosine kinase
IAGP
HPO
OMIM:307200
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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BUD23
BUD23 rRNA methyltransferase and ribosome maturation factor
IAGP
HPO
ORPHA:904
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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CARS1
cysteinyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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CBL
Cbl proto-oncogene
IAGP
HPO
ORPHA:648
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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CCBE1
collagen and calcium binding EGF domains 1
IAGP
HPO
OMIM:235510
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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CCDC141
coiled-coil domain containing 141
IAGP
HPO
ORPHA:478
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
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CCDC8
coiled-coil domain containing 8
IAGP
HPO
ORPHA:2616
NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
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CD96
CD96 molecule
IAGP
HPO
OMIM:211750
NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750
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CDC45
cell division cycle 45
IAGP
HPO
ORPHA:2554
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
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CDC6
cell division cycle 6
IAGP
HPO
OMIM:613805 ORPHA:2554
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
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CDK5RAP2
CDK5 regulatory subunit associated protein 2
IAGP
DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)
RGD
PMID:26436113
RGD:13450906
NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170
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CDKN1C
cyclin dependent kinase inhibitor 1C
IAGP
HPO
OMIM:614732
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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CDT1
chromatin licensing and DNA replication factor 1
IAGP
HPO
OMIM:613804 ORPHA:2554
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
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CENPE
centromere protein E
IAGP
HPO
ORPHA:808
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
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CENPJ
centromere protein J
IAGP
HPO
ORPHA:808
NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889
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CEP152
centrosomal protein 152
IAGP
HPO
OMIM:613823 ORPHA:808
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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CEP57
centrosomal protein 57
IAGP
HPO
OMIM:614114
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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CHD7
chromodomain helicase DNA binding protein 7
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CHP1
calcineurin like EF-hand protein 1
IAGP
HPO
OMIM:618438
NCBI chr15:41,231,268...41,281,887
Ensembl chr15:41,230,839...41,281,887
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CHST3
carbohydrate sulfotransferase 3
IAGP
HPO
OMIM:143095 OMIM:245600
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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CKAP2L
cytoskeleton associated protein 2 like
IAGP
HPO
ORPHA:3255
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
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CLIP2
CAP-Gly domain containing linker protein 2
IAGP
HPO
ORPHA:904
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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COL2A1
collagen type II alpha 1 chain
IAGP
HPO
OMIM:150600 ORPHA:2380 ORPHA:85198
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COX4I1
cytochrome c oxidase subunit 4I1
IAGP
HPO
OMIM:619060
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
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COX4I2
cytochrome c oxidase subunit 4I2
IAGP
HPO
OMIM:612714
NCBI chr20:31,637,912...31,645,006
Ensembl chr20:31,637,912...31,645,006
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CPLX1
complexin 1
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CREBBP
CREB binding protein
IAGP
HPO
OMIM:180849 ORPHA:353281
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CTBP1
C-terminal binding protein 1
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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CTNS
cystinosin, lysosomal cystine transporter
IAGP
HPO
OMIM:219800 ORPHA:411634
NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
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CUL7
cullin 7
IAGP
HPO
OMIM:273750 ORPHA:2616
NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
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CYB5A
cytochrome b5 type A
IAGP
HPO
ORPHA:90796
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
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CYP11A1
cytochrome P450 family 11 subfamily A member 1
IAGP
HPO
ORPHA:168558 ORPHA:289548
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
IAGP
HPO
ORPHA:90793 ORPHA:90796
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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CYP19A1
cytochrome P450 family 19 subfamily A member 1
IAGP
HPO
OMIM:613546 ORPHA:91
NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
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DCAF17
DDB1 and CUL4 associated factor 17
IAGP
HPO
ORPHA:3464
NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052
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DCC
DCC netrin 1 receptor
IAGP
HPO
ORPHA:478
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DDB2
damage specific DNA binding protein 2
IAGP
HPO
ORPHA:910
NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
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DHX37
DEAH-box helicase 37
IAGP
HPO
ORPHA:251510
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DMRT3
doublesex and mab-3 related transcription factor 3
IAGP
HPO
ORPHA:251510
NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732
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DNA2
DNA replication helicase/nuclease 2
IAGP
HPO
ORPHA:808
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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DNAJC21
DnaJ heat shock protein family (Hsp40) member C21
IAGP
HPO
OMIM:260400 ORPHA:811
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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DNAJC30
DnaJ heat shock protein family (Hsp40) member C30
IAGP
HPO
ORPHA:904
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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DONSON
DNA replication fork stabilization factor DONSON
IAGP
HPO
OMIM:617604
NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
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DPF2
double PHD fingers 2
IAGP
HPO
ORPHA:1465
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPP6
dipeptidyl peptidase like 6
IAGP
HPO
OMIM:616311
NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285
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DUSP6
dual specificity phosphatase 6
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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DVL1
dishevelled segment polarity protein 1
IAGP
HPO
OMIM:180700
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DYNC2LI1
dynein cytoplasmic 2 light intermediate chain 1
IAGP
HPO
ORPHA:289
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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EFL1
elongation factor like GTPase 1
IAGP
HPO
ORPHA:811
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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EIF4H
eukaryotic translation initiation factor 4H
IAGP
HPO
ORPHA:904
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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ELN
elastin
IAGP
HPO
ORPHA:904
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
IAGP
HPO
OMIM:613312
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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EP300
E1A binding protein p300
IAGP
HPO
OMIM:180849
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364 ORPHA:910
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364 ORPHA:910
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
IAGP
HPO
ORPHA:910
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERCC5
ERCC excision repair 5, endonuclease
IAGP
HPO
ORPHA:910
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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ESR1
estrogen receptor 1
IAGP
HPO
OMIM:615363
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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EVC
EvC ciliary complex subunit 1
IAGP
HPO
ORPHA:289
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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EVC2
EvC ciliary complex subunit 2
IAGP
HPO
ORPHA:289
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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EXT1
exostosin glycosyltransferase 1
IAGP
HPO
ORPHA:502
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
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EXTL3
exostosin like glycosyltransferase 3
IAGP
HPO
ORPHA:508533
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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EYA1
EYA transcriptional coactivator and phosphatase 1
IAGP
HPO
ORPHA:2792
NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
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FAM111A
FAM111 trypsin like peptidase A
IAGP
HPO
ORPHA:93325
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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FARSB
phenylalanyl-tRNA synthetase subunit beta
IAGP
HPO
OMIM:613658
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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FBN1
fibrillin 1
IAGP
HPO
OMIM:102370 OMIM:608328 OMIM:614185 ORPHA:969
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FEZF1
FEZ family zinc finger 1
IAGP
HPO
ORPHA:478
NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
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FGF17
fibroblast growth factor 17
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
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FGF8
fibroblast growth factor 8
IAGP
HPO
OMIM:612702 ORPHA:432 ORPHA:478
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1
fibroblast growth factor receptor 1
IAGP
HPO
ORPHA:2645 ORPHA:432 ORPHA:478
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFRL1
fibroblast growth factor receptor like 1
IAGP
HPO
OMIM:194190
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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FKBP6
FKBP prolyl isomerase family member 6 (inactive)
IAGP
HPO
ORPHA:904
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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FLNB
filamin B
IAGP
HPO
OMIM:272460
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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FLRT3
fibronectin leucine rich transmembrane protein 3
IAGP
HPO
ORPHA:478
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
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FMR1
fragile X messenger ribonucleoprotein 1
IAGP
HPO
ORPHA:261483
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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FOXA2
forkhead box A2
IAGP
HPO
ORPHA:95494
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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FOXP2
forkhead box P2
IAGP
HPO
ORPHA:251061
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
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FSHB
follicle stimulating hormone subunit beta
IAGP
HPO
OMIM:229070 ORPHA:52901
NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
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FSHR
follicle stimulating hormone receptor
IAGP
HPO
ORPHA:243
NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
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GATA4
GATA binding protein 4
IAGP
HPO
ORPHA:251510
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GBA1
glucosylceramidase beta 1
IAGP
HPO
ORPHA:77259 ORPHA:77261
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GDF5
growth differentiation factor 5
IAGP
HPO
OMIM:113100 ORPHA:63442
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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GET4
guided entry of tail-anchored proteins factor 4
IAGP
HPO
OMIM:620200
NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436
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GH1
growth hormone 1
IAGP
HPO
OMIM:262650 OMIM:612781
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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GHR
growth hormone receptor
IAGP
HPO
OMIM:262500 ORPHA:314802 ORPHA:633
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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GHRHR
growth hormone releasing hormone receptor
IAGP
HPO
OMIM:618157
NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254
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GHSR
growth hormone secretagogue receptor
IAGP
HPO
OMIM:615925 ORPHA:314811
NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
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GJA1
gap junction protein alpha 1
IAGP
HPO
OMIM:257850
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GLI1
GLI family zinc finger 1
IAGP
HPO
ORPHA:289
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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GLI2
GLI family zinc finger 2
IAGP
HPO
ORPHA:95494
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GMNN
geminin DNA replication inhibitor
IAGP
HPO
OMIM:616835 ORPHA:2554
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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GNRH1
gonadotropin releasing hormone 1
IAGP
HPO
ORPHA:432
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
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GNRHR
gonadotropin releasing hormone receptor
IAGP
HPO
ORPHA:432
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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GPX4
glutathione peroxidase 4
IAGP
HPO
ORPHA:93317
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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GRB10
growth factor receptor bound protein 10
IAGP
HPO
ORPHA:96182
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
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GTF2E2
general transcription factor IIE subunit 2
IAGP
HPO
OMIM:616943 ORPHA:33364
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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GTF2H5
general transcription factor IIH subunit 5
IAGP
HPO
ORPHA:33364
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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GTF2I
general transcription factor IIi
IAGP
HPO
ORPHA:904
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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GTF2IRD1
GTF2I repeat domain containing 1
IAGP
HPO
ORPHA:904
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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GTF2IRD2
GTF2I repeat domain containing 2
IAGP
HPO
ORPHA:904
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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H19
H19 imprinted maternally expressed transcript
IAGP
HPO
ORPHA:231140 ORPHA:231144
NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
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H19-ICR
H19/IGF2 imprinting control region
IAGP
HPO
OMIM:180860
NCBI chr11:1,998,202...2,003,509
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HDAC8
histone deacetylase 8
IAGP
HPO
ORPHA:199
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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HESX1
HESX homeobox 1
IAGP
HPO
ORPHA:478 ORPHA:95494
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HMGA2
high mobility group AT-hook 2
IAGP
HPO
OMIM:618908
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
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HRAS
HRas proto-oncogene, GTPase
IAGP
HPO
ORPHA:3071
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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HS6ST1
heparan sulfate 6-O-sulfotransferase 1
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
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HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
IAGP
HPO
OMIM:261515
NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
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HSPG2
heparan sulfate proteoglycan 2
IAGP
HPO
OMIM:255800 ORPHA:800
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
IAGP
HPO
OMIM:309590
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
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IFT57
intraflagellar transport 57
IAGP
HPO
OMIM:617927
NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
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IGF1
insulin like growth factor 1
IAGP
HPO
OMIM:608747 ORPHA:73272
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IGF1R
insulin like growth factor 1 receptor
IAGP
HPO
OMIM:270450 ORPHA:73273
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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IGF2
insulin like growth factor 2
IAGP
HPO
OMIM:180860 OMIM:616489 ORPHA:231140 ORPHA:231144
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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IGFALS
insulin like growth factor binding protein acid labile subunit
IAGP
HPO
ORPHA:140941
NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
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IHH
Indian hedgehog signaling molecule
IAGP
HPO
ORPHA:63446
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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IL17RD
interleukin 17 receptor D
IAGP
HPO
ORPHA:478
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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INPPL1
inositol polyphosphate phosphatase like 1
IAGP
HPO
ORPHA:2746
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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INSR
insulin receptor
IAGP
HPO
OMIM:246200 ORPHA:769
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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ITCH
itchy E3 ubiquitin protein ligase
IAGP
HPO
OMIM:613385
NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
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ITGB6
integrin subunit beta 6
IAGP
HPO
ORPHA:2850
NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,200,313
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KARS1
lysyl-tRNA synthetase 1
IAGP
HPO
OMIM:619147
NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
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KCNJ2
potassium inwardly rectifying channel subfamily J member 2
IAGP
HPO
OMIM:170390
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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KCNJ8
potassium inwardly rectifying channel subfamily J member 8
IAGP
HPO
ORPHA:1517
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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KIF15
kinesin family member 15
IAGP
HPO
ORPHA:261323
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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KISS1
KiSS-1 metastasis suppressor
IAGP
HPO
OMIM:614842 ORPHA:432
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
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KISS1R
KISS1 receptor
IAGP
HPO
OMIM:614837 ORPHA:432
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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KMT2A
lysine methyltransferase 2A
IAGP
HPO
OMIM:605130 ORPHA:319182
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KRAS
KRAS proto-oncogene, GTPase
IAGP
HPO
OMIM:609942 ORPHA:648
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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LGR4
leucine rich repeat containing G protein-coupled receptor 4
IAGP
HPO
OMIM:619613
NCBI chr11:27,365,961...27,472,790
Ensembl chr11:27,365,961...27,472,790
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LHX4
LIM homeobox 4
IAGP
HPO
ORPHA:95494
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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LIG4
DNA ligase 4
IAGP
HPO
ORPHA:235
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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LIMK1
LIM domain kinase 1
IAGP
HPO
ORPHA:904
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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LONP1
lon peptidase 1, mitochondrial
IAGP
HPO
OMIM:600373 ORPHA:1458
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LPIN2
lipin 2
IAGP
HPO
OMIM:609628
NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
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LSS
lanosterol synthase
IAGP
HPO
ORPHA:2850
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
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LTBP3
latent transforming growth factor beta binding protein 3
IAGP
HPO
OMIM:601216 OMIM:617809 ORPHA:969
NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
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LZTR1
leucine zipper like post translational regulator 1
IAGP
HPO
ORPHA:648
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MADD
MAP kinase activating death domain
IAGP
HPO
OMIM:619004
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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MALT1
MALT1 paracaspase
IAGP
HPO
OMIM:615468
NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
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MAP3K1
mitogen-activated protein kinase kinase kinase 1
IAGP
HPO
ORPHA:251510
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MAP3K7
mitogen-activated protein kinase kinase kinase 7
IAGP
ClinVar Annotator: match by term: Delayed skeletal maturation
ClinVar HPO
PMID:25741868
OMIM:157800
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MBTPS2
membrane bound transcription factor peptidase, site 2
IAGP
HPO
ORPHA:2273
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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MCM9
minichromosome maintenance 9 homologous recombination repair factor
IAGP
HPO
OMIM:616185
NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162
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MECP2
methyl-CpG binding protein 2
IAGP
HPO
ORPHA:1762
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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METTL27
methyltransferase like 27
IAGP
HPO
ORPHA:904
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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MLXIPL
MLX interacting protein like
IAGP
HPO
ORPHA:904
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MMP13
matrix metallopeptidase 13
IAGP
HPO
OMIM:602111 ORPHA:2501
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MPLKIP
M-phase specific PLK1 interacting protein
IAGP
HPO
ORPHA:33364
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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MRAS
muscle RAS oncogene homolog
IAGP
HPO
ORPHA:648
NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
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MRPS22
mitochondrial ribosomal protein S22
IAGP
HPO
OMIM:618117 ORPHA:243
NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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MSH4
mutS homolog 4
IAGP
HPO
ORPHA:243
NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242
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MSMO1
methylsterol monooxygenase 1
IAGP
HPO
OMIM:616834
NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
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MSTO1
misato mitochondrial distribution and morphology regulator 1
IAGP
HPO
OMIM:617675 ORPHA:502423
NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951
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MT-ATP8
mitochondrially encoded ATP synthase membrane subunit 8
IAGP
HPO
ORPHA:480
NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
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MT-TL1
mitochondrially encoded tRNA-Leu (UUA/G) 1
IAGP
HPO
ORPHA:480
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MVK
mevalonate kinase
IAGP
HPO
ORPHA:29
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
IAGP
HPO
OMIM:300855
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NBAS
NBAS subunit of NRZ tethering complex
IAGP
HPO
OMIM:614800
NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340
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NCF1
neutrophil cytosolic factor 1
IAGP
HPO
ORPHA:904
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NDNF
neuron derived neurotrophic factor
IAGP
HPO
ORPHA:478
NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
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NELFA
negative elongation factor complex member A
IAGP
HPO
ORPHA:280
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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NEU1
neuraminidase 1
IAGP
HPO
ORPHA:812
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
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NFE2L2
NFE2 like bZIP transcription factor 2
IAGP
HPO
OMIM:617744
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NGLY1
N-glycanase 1
IAGP
HPO
ORPHA:404454
NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
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NHLH2
nescient helix-loop-helix 2
IAGP
HPO
ORPHA:432
NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
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NIN
ninein
IAGP
HPO
OMIM:614851 ORPHA:319675
NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162
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NIPBL
NIPBL cohesin loading factor
IAGP
HPO
OMIM:122470 ORPHA:199
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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NMNAT1
nicotinamide nucleotide adenylyltransferase 1
IAGP
HPO
OMIM:619260
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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NPR2
natriuretic peptide receptor 2
IAGP
HPO
OMIM:616255
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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NR0B1
nuclear receptor subfamily 0 group B member 1
IAGP
HPO
ORPHA:251510
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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NR2F1
nuclear receptor subfamily 2 group F member 1
IAGP
HPO
ORPHA:401777
NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611
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NR5A1
nuclear receptor subfamily 5 group A member 1
IAGP
HPO
ORPHA:243 ORPHA:251510
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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NRAS
NRAS proto-oncogene, GTPase
IAGP
HPO
ORPHA:648
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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NSD1
nuclear receptor binding SET domain protein 1
IAGP
HPO
ORPHA:228415
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NSD2
nuclear receptor binding SET domain protein 2
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NSMF
NMDA receptor synaptonuclear signaling and neuronal migration factor
IAGP
HPO
ORPHA:432
NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
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NSUN2
NOP2/Sun RNA methyltransferase 2
IAGP
HPO
ORPHA:235
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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NUP107
nucleoporin 107
IAGP
HPO
ORPHA:243
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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NUP85
nucleoporin 85
IAGP
HPO
ORPHA:808
NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
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OBSL1
obscurin like cytoskeletal adaptor 1
IAGP
HPO
OMIM:612921 ORPHA:2616
NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
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ORC1
origin recognition complex subunit 1
IAGP
HPO
OMIM:224690 ORPHA:2554
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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ORC4
origin recognition complex subunit 4
IAGP
HPO
OMIM:613800 ORPHA:2554
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
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ORC6
origin recognition complex subunit 6
IAGP
HPO
OMIM:613803 ORPHA:2554
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
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OTX2
orthodenticle homeobox 2
IAGP
HPO
ORPHA:95494
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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PAM16
presequence translocase associated motor 16
IAGP
HPO
OMIM:613320
NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607
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PAX1
paired box 1
IAGP
HPO
ORPHA:2792
NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
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PAX8
paired box 8
IAGP
HPO
OMIM:218700
NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
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PCGF2
polycomb group ring finger 2
IAGP
HPO
OMIM:618371
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
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PCNT
pericentrin
IAGP
HPO
OMIM:210720 ORPHA:2637 ORPHA:808
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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PCSK1
proprotein convertase subtilisin/kexin type 1
IAGP
HPO
ORPHA:71528
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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PDGFRB
platelet derived growth factor receptor beta
IAGP
HPO
OMIM:601812
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PEX1
peroxisomal biogenesis factor 1
IAGP
HPO
OMIM:214100 ORPHA:3220
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX6
peroxisomal biogenesis factor 6
IAGP
HPO
ORPHA:3220
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
IAGP
HPO
ORPHA:280
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PIGT
phosphatidylinositol glycan anchor biosynthesis class T
IAGP
HPO
OMIM:615398 ORPHA:369837
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
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PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
IAGP
HPO
OMIM:618440 ORPHA:557003
NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
IAGP
HPO
OMIM:269880
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PLK4
polo like kinase 4
IAGP
HPO
ORPHA:808
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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PNPLA6
patatin like phospholipase domain containing 6
IAGP
HPO
ORPHA:3363
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POLA1
DNA polymerase alpha 1, catalytic subunit
IAGP
HPO
ORPHA:163976
NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986
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POLR3H
RNA polymerase III subunit H
IAGP
HPO
ORPHA:243
NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
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POMC
proopiomelanocortin
IAGP
HPO
ORPHA:71526
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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POP1
POP1 homolog, ribonuclease P/MRP subunit
IAGP
HPO
OMIM:617396
NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
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POU1F1
POU class 1 homeobox 1
IAGP
HPO
ORPHA:95494
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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POU3F4
POU class 3 homeobox 4
IAGP
HPO
ORPHA:1435
NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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PPOX
protoporphyrinogen oxidase
IAGP
HPO
OMIM:620483
NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
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PPP1CB
protein phosphatase 1 catalytic subunit beta
IAGP
HPO
OMIM:617506 ORPHA:2701
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
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PPP1R15B
protein phosphatase 1 regulatory subunit 15B
IAGP
HPO
OMIM:616817
NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
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PPP1R21
protein phosphatase 1 regulatory subunit 21
IAGP
HPO
OMIM:619383
NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
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PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
IAGP
HPO
OMIM:618419
NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
IAGP
HPO
ORPHA:289
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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PRKACB
protein kinase cAMP-activated catalytic subunit beta
IAGP
HPO
ORPHA:289
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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PRKG2
protein kinase cGMP-dependent 2
IAGP
HPO
OMIM:619638
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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PROK2
prokineticin 2
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
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PROKR2
prokineticin receptor 2
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PROP1
PROP paired-like homeobox 1
IAGP
HPO
ORPHA:90695 ORPHA:95494
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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PSMC3IP
PSMC3 interacting protein
IAGP
HPO
ORPHA:243
NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
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PTDSS1
phosphatidylserine synthase 1
IAGP
HPO
OMIM:151050 ORPHA:2658
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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PTEN
phosphatase and tensin homolog
IAGP
HPO
ORPHA:109
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IAGP
HPO
ORPHA:648
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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QRICH1
glutamine rich 1
IAGP
HPO
OMIM:617982
NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
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RAD21
RAD21 cohesin complex component
IAGP
HPO
ORPHA:199 ORPHA:502
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RAF1
Raf-1 proto-oncogene, serine/threonine kinase
IAGP
HPO
ORPHA:648
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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RASA2
RAS p21 protein activator 2
IAGP
HPO
ORPHA:648
NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
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RBBP8
RB binding protein 8, endonuclease
IAGP
HPO
ORPHA:808
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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RBM28
RNA binding motif protein 28
IAGP
HPO
ORPHA:157954
NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
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RECQL4
RecQ like helicase 4
IAGP
HPO
ORPHA:221016
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RFC2
replication factor C subunit 2
IAGP
HPO
ORPHA:904
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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RIT1
Ras like without CAAX 1
IAGP
HPO
ORPHA:648
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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RMRP
RNA component of mitochondrial RNA processing endoribonuclease
IAGP
HPO
ORPHA:175
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RNF113A
ring finger protein 113A
IAGP
HPO
ORPHA:33364
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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RNF13
ring finger protein 13
IAGP
HPO
OMIM:618379 ORPHA:544503
NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
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RNPC3
RNA binding region (RNP1, RRM) containing 3
IAGP
HPO
OMIM:618160
NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239
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RNU12
RNA, U12 small nuclear
IAGP
HPO
ORPHA:85199
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
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RNU4ATAC
RNA, U4atac small nuclear
IAGP
HPO
OMIM:210710 ORPHA:1824 ORPHA:2636
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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ROR2
receptor tyrosine kinase like orphan receptor 2
IAGP
HPO
OMIM:268310
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RPS6KA3
ribosomal protein S6 kinase A3
IAGP
HPO
OMIM:303600 ORPHA:192
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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RRAS
RAS related
IAGP
HPO
ORPHA:648
NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
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RRAS2
RAS related 2
IAGP
HPO
ORPHA:648
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
IAGP
HPO
ORPHA:480
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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RSPRY1
ring finger and SPRY domain containing 1
IAGP
HPO
OMIM:616723 ORPHA:457395
NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
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SBDS
SBDS ribosome maturation factor
IAGP
HPO
OMIM:260400 ORPHA:811
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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SCARB2
scavenger receptor class B member 2
IAGP
HPO
ORPHA:77259
NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
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SECISBP2
SECIS binding protein 2
IAGP
HPO
OMIM:609698 ORPHA:171706
NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663
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SEMA3A
semaphorin 3A
IAGP
HPO
ORPHA:478
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
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SHOC2
SHOC2 leucine rich repeat scaffold protein
IAGP
HPO
ORPHA:2701
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
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SIN3A
SIN3 transcription regulator family member A
IAGP
HPO
OMIM:613406 ORPHA:500166
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SIN3B
SIN3 transcription regulator family member B
IAGP
HPO
ORPHA:500166
NCBI chr19:16,829,398...16,880,349
Ensembl chr19:16,829,398...16,880,353
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SLC25A24
solute carrier family 25 member 24
IAGP
HPO
OMIM:612289
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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SLC29A3
solute carrier family 29 member 3
IAGP
HPO
ORPHA:168569
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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SLC30A7
solute carrier family 30 member 7
IAGP
HPO
OMIM:620501
NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,981,757
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SLC7A7
solute carrier family 7 member 7
IAGP
HPO
OMIM:222700 ORPHA:470
NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
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SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
IAGP
HPO
OMIM:601358 OMIM:619293 ORPHA:3051
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IAGP
HPO
OMIM:614609 ORPHA:1465
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
IAGP
HPO
OMIM:614608 ORPHA:1465
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
IAGP
HPO
ORPHA:1465
NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
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SMARCD1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
IAGP
HPO
ORPHA:1465
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
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SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
IAGP
HPO
ORPHA:1465
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMC1A
structural maintenance of chromosomes 1A
IAGP
HPO
ORPHA:199
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SMC3
structural maintenance of chromosomes 3
IAGP
HPO
ORPHA:199
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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SMPD1
sphingomyelin phosphodiesterase 1
IAGP
HPO
ORPHA:77293
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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SOHLH1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
IAGP
HPO
OMIM:617690
NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
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SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
IAGP
HPO
OMIM:610733 ORPHA:648
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
IAGP
HPO
ORPHA:648
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
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SOX10
SRY-box transcription factor 10
IAGP
HPO
ORPHA:478
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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SOX11
SRY-box transcription factor 11
IAGP
HPO
ORPHA:1465
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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SOX3
SRY-box transcription factor 3
IAGP
HPO
ORPHA:67045 ORPHA:90695
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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SOX4
SRY-box transcription factor 4
IAGP
HPO
ORPHA:1465
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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SOX9
SRY-box transcription factor 9
IAGP
HPO
ORPHA:251510
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SPIDR
scaffold protein involved in DNA repair
IAGP
HPO
OMIM:619665 ORPHA:243
NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
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SPRED2
sprouty related EVH1 domain containing 2
IAGP
HPO
ORPHA:648
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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SPRTN
SprT-like N-terminal domain
IAGP
HPO
OMIM:616200
NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
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SPRY4
sprouty RTK signaling antagonist 4
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
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SRCAP
Snf2 related CREBBP activator protein
IAGP
HPO
OMIM:136140 OMIM:619595 ORPHA:2044
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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SRP54
signal recognition particle 54
IAGP
HPO
OMIM:260400 ORPHA:811
NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
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SRY
sex determining region Y
IAGP
HPO
ORPHA:1772 ORPHA:251510
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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STAT1
signal transducer and activator of transcription 1
IAGP
HPO
ORPHA:391487
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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STAT5B
signal transducer and activator of transcription 5B
IAGP
HPO
OMIM:618985
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
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STX1A
syntaxin 1A
IAGP
HPO
ORPHA:904
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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TAB2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
IAGP
HPO
ORPHA:228410
NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
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TAC3
tachykinin precursor 3
IAGP
HPO
ORPHA:432
NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
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TACR3
tachykinin receptor 3
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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TAF13
TATA-box binding protein associated factor 13
IAGP
HPO
OMIM:617432
NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012
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TARS1
threonyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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TBCE
tubulin folding cofactor E
IAGP
HPO
OMIM:241410 OMIM:244460 ORPHA:2323 ORPHA:93324
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBCK
TBC1 domain containing kinase
IAGP
HPO
ORPHA:488632
NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
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TBL2
transducin beta like 2
IAGP
HPO
ORPHA:904
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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THRA
thyroid hormone receptor alpha
IAGP
HPO
OMIM:614450
NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867
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TMEM270
transmembrane protein 270
IAGP
HPO
ORPHA:904
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TMEM67
transmembrane protein 67
IAGP
HPO
OMIM:602152 ORPHA:140976
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TOM1
target of myb1 membrane trafficking protein
IAGP
HPO
ORPHA:391487
NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
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TONSL
tonsoku like, DNA repair protein
IAGP
HPO
OMIM:271510
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TP53
tumor protein p53
IAGP
HPO
OMIM:618165
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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TRAF7
TNF receptor associated factor 7
IAGP
HPO
OMIM:618164
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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TRAIP
TRAF interacting protein
IAGP
HPO
ORPHA:808
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
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TRH
thyrotropin releasing hormone
IAGP
HPO
OMIM:275120
NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935
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TRHR
thyrotropin releasing hormone receptor
IAGP
HPO
OMIM:618573 ORPHA:99832
NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
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TRPS1
transcriptional repressor GATA binding 1
IAGP
HPO
OMIM:190350 OMIM:190351 ORPHA:502
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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TRPV4
transient receptor potential cation channel subfamily V member 4
IAGP
HPO
OMIM:156530 OMIM:184252 OMIM:606835
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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TSHB
thyroid stimulating hormone subunit beta
IAGP
HPO
ORPHA:90674
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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UBR1
ubiquitin protein ligase E3 component n-recognin 1
IAGP
HPO
OMIM:243800 ORPHA:2315
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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UFSP2
UFM1 specific peptidase 2
IAGP
HPO
OMIM:617974
NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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VAMP7
vesicle associated membrane protein 7
IAGP
HPO
ORPHA:251510
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
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VPS37D
VPS37D subunit of ESCRT-I
IAGP
HPO
ORPHA:904
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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WDR11
WD repeat domain 11
IAGP
HPO
OMIM:620237 ORPHA:432 ORPHA:478
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
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WDR4
WD repeat domain 4
IAGP
HPO
OMIM:618347
NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
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WNT5A
Wnt family member 5A
IAGP
HPO
OMIM:180700
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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WT1
WT1 transcription factor
IAGP
HPO
ORPHA:251510
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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WWOX
WW domain containing oxidoreductase
IAGP
HPO
ORPHA:251510
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XPA
XPA, DNA damage recognition and repair factor
IAGP
HPO
ORPHA:910
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
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XPC
XPC complex subunit, DNA damage recognition and repair factor
IAGP
HPO
ORPHA:910
NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621
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ZEB2
zinc finger E-box binding homeobox 2
IAGP
HPO
ORPHA:261537 ORPHA:261552
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZFPM2
zinc finger protein, FOG family member 2
IAGP
HPO
ORPHA:251510
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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ZNF699
zinc finger protein 699
IAGP
HPO
OMIM:619488
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
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ZSWIM7
zinc finger SWIM-type containing 7
IAGP
HPO
ORPHA:243
NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
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CENPT
centromere protein T
IAGP
HPO
OMIM:618702
NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811
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ESR1
estrogen receptor 1
IAGP
HPO
ORPHA:785
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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LHX4
LIM homeobox 4
IAGP
HPO
OMIM:262700
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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