Term: Delayed puberty
Accession: HP:0000823
browse the term
Definition: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy.
Synonyms: exact_synonym: Delayed pubertal development; Delayed pubertal growth; Pubertal delay
alt_id: HP:0008859; HP:0010466; HP:0010467
xref: MESH:D011628 ; SNOMEDCT_US:123526007; SNOMEDCT_US:400003000; UMLS:C0034012
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AIP
aryl hydrocarbon receptor interacting protein
IAGP
HPO
ORPHA:2965
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ALDOA
aldolase, fructose-bisphosphate A
IAGP
HPO
OMIM:611881
NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
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ALX4
ALX homeobox 4
IAGP
HPO
ORPHA:52022
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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ANOS1
anosmin 1
IAGP
ClinVar Annotator: match by term: Delayed puberty
HPO ClinVar
PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 PMID:29758562 More...
ORPHA:478
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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AR
androgen receptor
IAGP
HPO
ORPHA:99429
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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ATAD3A
ATPase family AAA domain containing 3A
IAGP
HPO
ORPHA:496790
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
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ATM
ATM serine/threonine kinase
IAGP
HPO
OMIM:208900 ORPHA:100
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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BMP15
bone morphogenetic protein 15
IAGP
HPO
OMIM:300510 ORPHA:243
NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641
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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
ORPHA:54595
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BRCC3
BRCA1/BRCA2-containing complex subunit 3
IAGP
HPO
ORPHA:280679
NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077
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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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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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CARS1
cysteinyl-tRNA synthetase 1
IAGP
HPO
OMIM:618891
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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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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CDH23
cadherin related 23
IAGP
HPO
ORPHA:2965 ORPHA:91347
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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CDON
cell adhesion associated, oncogene regulated
IAGP
HPO
ORPHA:95496
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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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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CHD7
chromodomain helicase DNA binding protein 7
IAGP
HPO
OMIM:214800 ORPHA:138 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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CISD2
CDGSH iron sulfur domain 2
IAGP
HPO
ORPHA:3463
NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
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CLCNKB
chloride voltage-gated channel Kb
IAGP
HPO
ORPHA:358
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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COL7A1
collagen type VII alpha 1 chain
IAGP
HPO
ORPHA:79408 ORPHA:89842
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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CPE
carboxypeptidase E
IAGP
HPO
OMIM:619326
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
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CTNNB1
catenin beta 1
IAGP
HPO
ORPHA:54595
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CTNS
cystinosin, lysosomal cystine transporter
IAGP
HPO
OMIM:219800
NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
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CUL4B
cullin 4B
IAGP
HPO
OMIM:300354
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
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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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DACT1
dishevelled binding antagonist of beta catenin 1
IAGP
HPO
ORPHA:857
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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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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DEAF1
DEAF1 transcription factor
IAGP
HPO
ORPHA:819
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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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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DIAPH1
diaphanous related formin 1
IAGP
HPO
ORPHA:477814
NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
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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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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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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
IAGP
ClinVar Annotator: match by term: Delayed puberty
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
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EIF2S3
eukaryotic translation initiation factor 2 subunit gamma
IAGP
HPO
OMIM:300148
NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810
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EIF5A
eukaryotic translation initiation factor 5A
IAGP
HPO
OMIM:619376
NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
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ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1
IAGP
HPO
OMIM:615683 ORPHA:401810
NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
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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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EXT2
exostosin glycosyltransferase 2
IAGP
HPO
ORPHA:52022
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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FAM111B
FAM111 trypsin like peptidase B
IAGP
HPO
OMIM:615704
NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
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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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FGD1
FYVE, RhoGEF and PH domain containing 1
IAGP
HPO
OMIM:305400
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
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FGF17
fibroblast growth factor 17
IAGP
HPO
OMIM:615270 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
ClinVar Annotator: match by term: Delayed puberty
ClinVar HPO
PMID:12627230 PMID:16606836 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
OMIM:147950 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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FLII
FLII actin remodeling protein
IAGP
HPO
ORPHA:819
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
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FLRT3
fibronectin leucine rich transmembrane protein 3
IAGP
HPO
OMIM:615271 ORPHA:478
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
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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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FSHB
follicle stimulating hormone subunit beta
IAGP
HPO
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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G6PC1
glucose-6-phosphatase catalytic subunit 1
IAGP
HPO
OMIM:232200
NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
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GALT
galactose-1-phosphate uridylyltransferase
IAGP
HPO
ORPHA:79239
NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
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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:2072 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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GHR
growth hormone receptor
IAGP
HPO
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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GHSR
growth hormone secretagogue receptor
IAGP
HPO
ORPHA:314811
NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456
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GLA
galactosidase alpha
IAGP
HPO
OMIM:301500 ORPHA:324
NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012
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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
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
OMIM:614841 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
ClinVar Annotator: match by term: Delayed pubertal growth
ClinVar HPO
PMID:25636053
ORPHA:432
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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GPR161
G protein-coupled receptor 161
IAGP
HPO
ORPHA:95496
NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667
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HBB
hemoglobin subunit beta
IAGP
HPO
ORPHA:231214 ORPHA:231226
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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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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HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
IAGP
HPO
OMIM:176270
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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HESX1
HESX homeobox 1
IAGP
HPO
ORPHA:478 ORPHA:95494 ORPHA:95496
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
IAGP
HPO
OMIM:212750
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
HPO
OMIM:212750
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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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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IGFALS
insulin like growth factor binding protein acid labile subunit
IAGP
HPO
OMIM:615961 ORPHA:140941
NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
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IL17RD
interleukin 17 receptor D
IAGP
ClinVar Annotator: match by term: Delayed puberty
ClinVar HPO
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901
ORPHA:478
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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INSR
insulin receptor
IAGP
HPO
ORPHA:2297
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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IPW
imprinted in Prader-Willi syndrome
IAGP
HPO
OMIM:176270
NCBI chr15:25,116,545...25,122,476
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IQSEC2
IQ motif and Sec7 domain ArfGEF 2
IAGP
HPO
ORPHA:819
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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KISS1
KiSS-1 metastasis suppressor
IAGP
HPO
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
ORPHA:432
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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LEPR
leptin receptor
IAGP
HPO
OMIM:614963
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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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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LHB
luteinizing hormone subunit beta
IAGP
HPO
OMIM:228300
NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
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LHX4
LIM homeobox 4
IAGP
HPO
ORPHA:95494 ORPHA:95496
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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LMNA
lamin A/C
IAGP
HPO
ORPHA:79474
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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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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MAGEL2
MAGE family member L2
IAGP
HPO
OMIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:98754
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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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
HPO
OMIM:617137
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MEN1
menin 1
IAGP
HPO
ORPHA:2965
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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MKRN3
makorin ring finger protein 3
IAGP
HPO
OMIM:176270
NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
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MKRN3-AS1
MKRN3 antisense RNA 1
IAGP
HPO
OMIM:176270
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MMP1
matrix metallopeptidase 1
IAGP
HPO
ORPHA:79408
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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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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NDN
necdin, MAGE family member
IAGP
HPO
ORPHA:177901 ORPHA:177904 ORPHA:98754
NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
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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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NDP
norrin cystine knot growth factor NDP
IAGP
HPO
ORPHA:649
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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NF1
neurofibromin 1
IAGP
HPO
ORPHA:97685
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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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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NIPBL
NIPBL cohesin loading factor
IAGP
HPO
ORPHA:199
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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NLRP3
NLR family pyrin domain containing 3
IAGP
HPO
ORPHA:575
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NONO
non-POU domain containing octamer binding
IAGP
HPO
OMIM:300967 ORPHA:466791
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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NOTCH2
notch receptor 2
IAGP
HPO
ORPHA:955
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NPAP1
nuclear pore associated protein 1
IAGP
HPO
OMIM:176270
NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
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NR0B1
nuclear receptor subfamily 0 group B member 1
IAGP
HPO
OMIM:300200 ORPHA:251510
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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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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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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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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OCA2
OCA2 melanosomal transmembrane protein
IAGP
HPO
ORPHA:177901 ORPHA:177904 ORPHA:98754
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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OCRL
OCRL inositol polyphosphate-5-phosphatase
IAGP
HPO
ORPHA:534
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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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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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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PGM1
phosphoglucomutase 1
IAGP
HPO
OMIM:614921
NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
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PHF21A
PHD finger protein 21A
IAGP
HPO
ORPHA:52022
NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454
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PHF6
PHD finger protein 6
IAGP
HPO
OMIM:301900
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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PHKA2
phosphorylase kinase regulatory subunit alpha 2
IAGP
HPO
ORPHA:264580
NCBI chr X:18,892,298...18,984,114
Ensembl chr X:18,892,298...18,984,114
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PHKG2
phosphorylase kinase catalytic subunit gamma 2
IAGP
HPO
ORPHA:264580
NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176
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PNPLA6
patatin like phospholipase domain containing 6
IAGP
HPO
OMIM:275400
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POF1B
POF1B actin binding protein
IAGP
HPO
OMIM:300604
NCBI chr X:85,277,396...85,379,665
Ensembl chr X:85,277,396...85,379,717
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POLR3A
RNA polymerase III subunit A
IAGP
HPO
OMIM:607694 ORPHA:447896
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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POLR3B
RNA polymerase III subunit B
IAGP
HPO
OMIM:607694
NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
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POLR3GL
RNA polymerase III subunit GL
IAGP
HPO
OMIM:619234
NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848
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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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POR
cytochrome p450 oxidoreductase
IAGP
HPO
ORPHA:95699
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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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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PPP1R15B
protein phosphatase 1 regulatory subunit 15B
IAGP
HPO
OMIM:616817 ORPHA:391408
NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
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PRDM13
PR/SET domain 13
IAGP
HPO
OMIM:619761
NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578
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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 ORPHA:95496
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
OMIM:614324 ORPHA:243
NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IAGP
HPO
OMIM:151100
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PTRH2
peptidyl-tRNA hydrolase 2
IAGP
HPO
OMIM:616263 ORPHA:456312
NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
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PUS1
pseudouridine synthase 1
IAGP
HPO
OMIM:600462 ORPHA:2598
NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896
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PWAR1
Prader Willi/Angelman region RNA 1
IAGP
HPO
OMIM:176270
NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
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PWRN1
Prader-Willi region non-protein coding RNA 1
IAGP
HPO
OMIM:176270
NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
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PYGL
glycogen phosphorylase L
IAGP
HPO
ORPHA:369
NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
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RAB18
RAB18, member RAS oncogene family
IAGP
HPO
ORPHA:2510
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207
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RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
IAGP
HPO
ORPHA:2510
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
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RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
IAGP
HPO
ORPHA:2510
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAD21
RAD21 cohesin complex component
IAGP
HPO
ORPHA:199
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RAI1
retinoic acid induced 1
IAGP
HPO
ORPHA:819
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RBM28
RNA binding motif protein 28
IAGP
HPO
OMIM:612079 ORPHA:157954
NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
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ROBO1
roundabout guidance receptor 1
IAGP
HPO
ORPHA:95496
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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RPL10
ribosomal protein L10
IAGP
HPO
ORPHA:459070
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
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SALL1
spalt like transcription factor 1
IAGP
HPO
ORPHA:857
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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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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SEMA3A
semaphorin 3A
IAGP
ClinVar Annotator: match by term: Delayed puberty
HPO ClinVar
PMID:25636053 PMID:25741868 PMID:28492532
ORPHA:478
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
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SEMA3E
semaphorin 3E
IAGP
HPO
ORPHA:138
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
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SLC12A3
solute carrier family 12 member 3
IAGP
HPO
OMIM:263800 ORPHA:358
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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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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SLC37A4
solute carrier family 37 member 4
IAGP
HPO
OMIM:232220 OMIM:232240 ORPHA:79259
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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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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SNORD115-1
small nucleolar RNA, C/D box 115-1
IAGP
HPO
OMIM:176270
NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
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SNORD116-1
small nucleolar RNA, C/D box 116-1
IAGP
HPO
OMIM:176270
NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
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SNRPN
small nuclear ribonucleoprotein polypeptide N
IAGP
HPO
ORPHA:177901 ORPHA:177904 ORPHA:98754
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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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
OMIM:615866
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:90695
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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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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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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SPTBN1
spectrin beta, non-erythrocytic 1
IAGP
HPO
OMIM:619475
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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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
OMIM:614162 ORPHA:391487
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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STAT3
signal transducer and activator of transcription 3
IAGP
HPO
OMIM:615952
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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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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TAC3
tachykinin precursor 3
IAGP
ClinVar Annotator: match by term: Pubertal delay ClinVar Annotator: match by term: Delayed puberty
ClinVar HPO
PMID:25636053 PMID:28492532 PMID:29419413
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
ClinVar Annotator: match by term: Delayed puberty
ClinVar HPO
PMID:25636053
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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TBC1D20
TBC1 domain family member 20
IAGP
HPO
ORPHA:2510
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
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TBX3
T-box transcription factor 3
IAGP
HPO
OMIM:181450 ORPHA:3138
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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TCF12
transcription factor 12
IAGP
HPO
OMIM:619718
NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
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TGFB1
transforming growth factor beta 1
IAGP
HPO
OMIM:131300 ORPHA:1328
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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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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TRIP4
thyroid hormone receptor interactor 4
IAGP
HPO
ORPHA:486815
NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303
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TRMT10A
tRNA methyltransferase 10A
IAGP
HPO
OMIM:616033 ORPHA:391408
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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USP9X
ubiquitin specific peptidase 9 X-linked
IAGP
HPO
ORPHA:480880
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
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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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VPS13B
vacuolar protein sorting 13 homolog B
IAGP
HPO
OMIM:216550 ORPHA:193
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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WDR11
WD repeat domain 11
IAGP
HPO
ORPHA:432 ORPHA:478 ORPHA:95496
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
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WFS1
wolframin ER transmembrane glycoprotein
IAGP
HPO
ORPHA:3463 ORPHA:411590
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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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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YARS2
tyrosyl-tRNA synthetase 2
IAGP
HPO
ORPHA:2598
NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897
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ZBTB20
zinc finger and BTB domain containing 20
IAGP
HPO
OMIM:259050
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
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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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ZMPSTE24
zinc metallopeptidase STE24
IAGP
HPO
ORPHA:90154
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ZSWIM7
zinc finger SWIM-type containing 7
IAGP
HPO
OMIM:619834 ORPHA:243
NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
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ALMS1
ALMS1 centrosome and basal body associated protein
IAGP
HPO
ORPHA:64
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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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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DNM1L
dynamin 1 like
IAGP
HPO
ORPHA:330050
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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FSHB
follicle stimulating hormone subunit beta
IAGP
HPO
ORPHA:52901
NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
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GHR
growth hormone receptor
IAGP
HPO
OMIM:262500
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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KRAS
KRAS proto-oncogene, GTPase
IAGP
HPO
ORPHA:648
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LMNA
lamin A/C
IAGP
HPO
ORPHA:740
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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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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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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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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PEX10
peroxisomal biogenesis factor 10
IAGP
HPO
OMIM:614871
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IAGP
HPO
OMIM:151100 ORPHA:648
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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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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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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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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SLC25A13
solute carrier family 25 member 13
IAGP
HPO
ORPHA:247585
NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
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SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
IAGP
HPO
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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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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STUB1
STIP1 homology and U-box containing protein 1
IAGP
HPO
ORPHA:412057
NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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ZMPSTE24
zinc metallopeptidase STE24
IAGP
HPO
ORPHA:740
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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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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TRMT10A
tRNA methyltransferase 10A
IAGP
HPO
OMIM:616033
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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