Puberty and gonadal disorders - Ontology Report

ORPHA:79320

NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553

ALMS1

ALMS1 centrosome and basal body associated protein

ORPHA:64

NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

ORPHA:464282

NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919

Absence of pubertal development

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

chromodomain helicase DNA binding protein 7

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

cytochrome P450 family 17 subfamily A member 1

ORPHA:90793

NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472

DCHS1

dachsous cadherin-related 1

ORPHA:314679

NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809

DEAH-box helicase 37

NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131

dual specificity phosphatase 6

NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501

estrogen receptor 1

NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619

FAT4

FAT atypical cadherin 4

ORPHA:314679

NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932

fibroblast growth factor 17

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

fibroblast growth factor 8

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

fibroblast growth factor receptor 1

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

gonadotropin releasing hormone 1

NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654

gonadotropin releasing hormone receptor

NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388

heparan sulfate 6-O-sulfotransferase 1

NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

interleukin 17 receptor D

MIM:615267

NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306

KiSS-1 metastasis suppressor

NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491

KISS1 receptor

NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005

MAGE family member L2

ORPHA:398069

NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867

nescient helix-loop-helix 2

MIM:619755 ORPHA:432

NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917

nuclear receptor subfamily 0 group B member 1

MIM:300200

NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390

NMDA receptor synaptonuclear signaling and neuronal migration factor

NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334

nucleoporin 107

NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809

prokineticin 2

NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206

prokineticin receptor 2

NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954

RNF216

ring finger protein 216

MIM:212840

NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696

SIM1

SIM bHLH transcription factor 1

ORPHA:398079

NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921

sprouty RTK signaling antagonist 4

NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455

tachykinin precursor 3

NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883

tachykinin receptor 3

MIM:614840 ORPHA:432

NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985

WD repeat domain 11

NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524

Absence of secondary sex characteristics

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

chromodomain helicase DNA binding protein 7

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

cytochrome b5 type A

NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973

CYP11A1

cytochrome P450 family 11 subfamily A member 1

ORPHA:168558 ORPHA:289548

NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646

cytochrome P450 family 17 subfamily A member 1

ORPHA:90793 ORPHA:90796

NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472

DEAH-box helicase 37

NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131

dual specificity phosphatase 6

NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501

estrogen receptor 1

NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619

fibroblast growth factor 17

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

fibroblast growth factor 8

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

fibroblast growth factor receptor 1

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

forkhead box A2

NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455

GATA4

GATA binding protein 4

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GLI family zinc finger 2

NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653

gonadotropin releasing hormone 1

NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654

gonadotropin releasing hormone receptor

NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388

HESX homeobox 1

NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606

heparan sulfate 6-O-sulfotransferase 1

NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

KiSS-1 metastasis suppressor

NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491

KISS1 receptor

NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005

leptin

NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629

leptin receptor

NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559

LIM homeobox 4

NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984

mitogen-activated protein kinase kinase kinase 1

NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152

nescient helix-loop-helix 2

NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917

nuclear receptor subfamily 0 group B member 1

NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390

NR5A1

nuclear receptor subfamily 5 group A member 1

NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420

NMDA receptor synaptonuclear signaling and neuronal migration factor

NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334

OTX2

orthodenticle homeobox 2

NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693

POLA1

DNA polymerase alpha 1, catalytic subunit

ORPHA:163976

NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986

POU1F1

POU class 1 homeobox 1

NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584

prokineticin 2

NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206

prokineticin receptor 2

NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954

PROP1

PROP paired-like homeobox 1

ORPHA:90695 ORPHA:95494

NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242

SOX3

SRY-box transcription factor 3

ORPHA:90695

NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069

SOX9

SRY-box transcription factor 9

NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416

sprouty RTK signaling antagonist 4

NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455

SRY

sex determining region Y

MIM:400044 ORPHA:251510

NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682

tachykinin precursor 3

NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883

tachykinin receptor 3

NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985

VAMP7

vesicle associated membrane protein 7

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

WD repeat domain 11

NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524

WT1

WT1 transcription factor

NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564

WWOX

WW domain containing oxidoreductase

NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667

ZFPM2

zinc finger protein, FOG family member 2

NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539

Adrenogenital syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CYP11B1

cytochrome P450 family 11 subfamily B member 1

MIM:103900 MIM:202010

NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846

cytochrome P450 family 17 subfamily A member 1

MIM:202110

NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472

CYP21A2

cytochrome P450 family 21 subfamily A member 2

MIM:201910

NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644

STAR

steroidogenic acute regulatory protein

MIM:201710

NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992

Androgen insufficiency

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

androgen receptor

ORPHA:95706

NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619

LHB

luteinizing hormone subunit beta

MIM:228300

NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091

MAMLD1

mastermind like domain containing 1

ORPHA:95706

NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178

PMFBP1

polyamine modulated factor 1 binding protein 1

ORPHA:529970

NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878

SUN5

Sad1 and UNC84 domain containing 5

ORPHA:529970

NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433

Delayed menarche

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALMS1

ALMS1 centrosome and basal body associated protein

ORPHA:64

NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

dynamin 1 like

NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650

follicle stimulating hormone subunit beta

NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261

GHR

growth hormone receptor

MIM:262500

NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878

KRAS

KRAS proto-oncogene, GTPase

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

lamin A/C

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081

LZTR1

leucine zipper like post translational regulator 1

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

MRAS

muscle RAS oncogene homolog

NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534

NRAS

NRAS proto-oncogene, GTPase

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

PEX10

peroxisomal biogenesis factor 10

MIM:614871

NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797

PTPN11

protein tyrosine phosphatase non-receptor type 11

MIM:151100 ORPHA:648

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201

RASA2

RAS p21 protein activator 2

NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344

RIT1

Ras like without CAAX 1

NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404

RAS related

NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143

RAS related 2

NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506

SLC25A13

solute carrier family 25 member 13

ORPHA:247585

NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345

SOS2

SOS Ras/Rho guanine nucleotide exchange factor 2

NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578

SPRED2

sprouty related EVH1 domain containing 2

NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637

STUB1

STIP1 homology and U-box containing protein 1

ORPHA:412057

NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870

ZMPSTE24

zinc metallopeptidase STE24

ORPHA:740

NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180

Delayed puberty

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

aryl hydrocarbon receptor interacting protein

ORPHA:2965

NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154

ALDOA

aldolase, fructose-bisphosphate A

MIM:611881

NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457

ALX homeobox 4

NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139

ANOS1

anosmin 1

ClinVar Annotator: match by term: Delayed puberty

PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 More...

NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137

androgen receptor

ORPHA:99429

NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619

ATAD3A

ATPase family AAA domain containing 3A

ORPHA:496790

NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685

ATM

ATM serine/threonine kinase

MIM:208900 ORPHA:100

NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102

BMP15

bone morphogenetic protein 15

MIM:300510 ORPHA:243

NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641

BNC1

basonuclin zinc finger protein 1

ORPHA:243

NCBI chr15:83,255,884...83,284,664
Ensembl chr15:83,255,884...83,284,664

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ORPHA:54595

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BRCC3

BRCA1/BRCA2-containing complex subunit 3

ORPHA:280679

NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077

BRD4

bromodomain containing 4

NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545

BTK

Bruton tyrosine kinase

MIM:307200

NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796

CARS1

cysteinyl-tRNA synthetase 1

MIM:618891

NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613

CCDC141

coiled-coil domain containing 141

NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137

cadherin related 23

NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947

CDON

cell adhesion associated, oncogene regulated

ORPHA:95496

NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335

centromere protein T

NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811

chromodomain helicase DNA binding protein 7

MIM: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

CISD2

CDGSH iron sulfur domain 2

ORPHA:3463

NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807

CLCNKB

chloride voltage-gated channel Kb

ORPHA:358

NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311

COL7A1

collagen type VII alpha 1 chain

ORPHA:79408 ORPHA:89842

NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329

carboxypeptidase E

NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547

catenin beta 1

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

CTNS

cystinosin, lysosomal cystine transporter

MIM:219800

NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103

cullin 4B

NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074

cytochrome b5 type A

NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973

CYP11A1

cytochrome P450 family 11 subfamily A member 1

ORPHA:168558 ORPHA:289548

NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646

cytochrome P450 family 17 subfamily A member 1

ORPHA:90793 ORPHA:90796

NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472

DACT1

dishevelled binding antagonist of beta catenin 1

ORPHA:857

NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321

DCC

DCC netrin 1 receptor

NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899

DEAF1

DEAF1 transcription factor

NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118

DEAH-box helicase 37

NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131

DIAPH1

diaphanous related formin 1

ORPHA:477814

NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055

dual specificity phosphatase 6

NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: Delayed puberty

PMID:25741868 PMID:28492532

NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443

EIF2S3

eukaryotic translation initiation factor 2 subunit gamma

MIM:300148

NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810

EIF5A

eukaryotic translation initiation factor 5A

MIM:619376

NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463

ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1

MIM:615683 ORPHA:401810

NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266

estrogen receptor 1

NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619

EXT2

exostosin glycosyltransferase 2

ORPHA:52022

NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962

FAM111B

FAM111 trypsin like peptidase B

MIM:615704

NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412

FEZF1

FEZ family zinc finger 1

NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691

FGD1

FYVE, RhoGEF and PH domain containing 1

MIM:305400

NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234

fibroblast growth factor 17

MIM:615270 ORPHA:432 ORPHA:478

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

fibroblast growth factor 8

MIM:612702 ORPHA:432 ORPHA:478

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Delayed puberty

MIM:147950 ORPHA:432 ORPHA:478

PMID:12627230 PMID:16606836 PMID:17200176 PMID:25636053 PMID:25741868 More...

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FLII

FLII actin remodeling protein

NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738

FLRT3

fibronectin leucine rich transmembrane protein 3

MIM:615271 ORPHA:478

NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614

forkhead box A2

NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455

follicle stimulating hormone subunit beta

NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261

FSHR

follicle stimulating hormone receptor

ORPHA:243

NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527

G6PC1

glucose-6-phosphatase catalytic subunit 1

MIM:232200

NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438

GALT

galactose-1-phosphate uridylyltransferase

ORPHA:79239

NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035

GATA4

GATA binding protein 4

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GBA1

glucosylceramidase beta 1

ORPHA:2072 ORPHA:77259 ORPHA:77261

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GHR

growth hormone receptor

ORPHA:314802 ORPHA:633

NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878

GHSR

growth hormone secretagogue receptor

ORPHA:314811

NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456

galactosidase alpha

NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012

GLI family zinc finger 2

NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653

GMNN

geminin DNA replication inhibitor

MIM:616835

NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099

gonadotropin releasing hormone 1

MIM:614841 ORPHA:432

NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654

gonadotropin releasing hormone receptor

ClinVar Annotator: match by term: Delayed pubertal growth

PMID:25636053

NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388

GPR161

G protein-coupled receptor 161

ORPHA:95496

NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667

HBB

hemoglobin subunit beta

ORPHA:231214 ORPHA:231226

NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395

HDAC8

histone deacetylase 8

NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101

HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179

HESX1

HESX homeobox 1

ORPHA:478 ORPHA:95494 ORPHA:95496

NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606

HLA-DQA1

major histocompatibility complex, class II, DQ alpha 1

MIM:212750

NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062

HLA-DQB1

major histocompatibility complex, class II, DQ beta 1

MIM:212750

NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383

heparan sulfate 6-O-sulfotransferase 1

NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

IGFALS

insulin like growth factor binding protein acid labile subunit

MIM:615961 ORPHA:140941

NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971

interleukin 17 receptor D

ClinVar Annotator: match by term: Delayed puberty

PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901

NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306

insulin receptor

NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414

IPW

imprinted in Prader-Willi syndrome

NCBI chr15:25,116,545...25,122,476

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350

KiSS-1 metastasis suppressor

NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491

KISS1 receptor

NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005

leptin receptor

NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559

LGR4

leucine rich repeat containing G protein-coupled receptor 4

MIM:619613

NCBI chr11:27,365,961...27,472,790
Ensembl chr11:27,365,961...27,472,790

LHB

luteinizing hormone subunit beta

MIM:228300

NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091

LHX4

LIM homeobox 4

ORPHA:95494 ORPHA:95496

NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984

lamin A/C

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081

lipin 2

NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144

MAGE family member L2

MIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:98754

NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867

mitogen-activated protein kinase kinase kinase 1

NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152

MAP3K7

mitogen-activated protein kinase kinase kinase 7

MIM:617137

NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086

menin 1

NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294

MKRN3

makorin ring finger protein 3

NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075

MKRN3-AS1

MKRN3 antisense RNA 1

matrix metallopeptidase 1

ORPHA:79408

NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160

MRPS22

mitochondrial ribosomal protein S22

MIM:618117 ORPHA:243

NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497

mutS homolog 4

NCBI chr 1:75,796,882...75,913,242
Ensembl chr 1:75,796,882...75,913,242

MSMO1

methylsterol monooxygenase 1

MIM:616834

NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164

MT-ATP8

mitochondrially encoded ATP synthase membrane subunit 8

ORPHA:480

NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

ORPHA:480

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

NDN

necdin, MAGE family member

ORPHA:177901 ORPHA:177904 ORPHA:98754

NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305

NDNF

neuron derived neurotrophic factor

NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021

NDP

norrin cystine knot growth factor NDP

ORPHA:649

NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395

neurofibromin 1

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

nescient helix-loop-helix 2

NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917

NIPBL

NIPBL cohesin loading factor

NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413

NLRP3

NLR family pyrin domain containing 3

ORPHA:575

NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108

NONO

non-POU domain containing octamer binding

MIM:300967 ORPHA:466791

NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522

notch receptor 2

NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779

NPAP1

nuclear pore associated protein 1

NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393

nuclear receptor subfamily 0 group B member 1

MIM:300200 ORPHA:251510

NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390

NR5A1

nuclear receptor subfamily 5 group A member 1

ORPHA:243 ORPHA:251510

NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420

NMDA receptor synaptonuclear signaling and neuronal migration factor

NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334

nucleoporin 107

NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809

OCA2

OCA2 melanosomal transmembrane protein

ORPHA:177901 ORPHA:177904 ORPHA:98754

NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315

OCRL

OCRL inositol polyphosphate-5-phosphatase

ORPHA:534

NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561

OTX2

orthodenticle homeobox 2

NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693

PCSK1

proprotein convertase subtilisin/kexin type 1

ORPHA:71528

NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143

phosphoglucomutase 1

NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245

PHF21A

PHD finger protein 21A

ORPHA:52022

NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454

PHD finger protein 6

NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791

PHKA2

phosphorylase kinase regulatory subunit alpha 2

ORPHA:264580

NCBI chr X:18,892,298...18,984,114
Ensembl chr X:18,892,298...18,984,114

PHKG2

phosphorylase kinase catalytic subunit gamma 2

ORPHA:264580

NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176

PNPLA6

patatin like phospholipase domain containing 6

MIM:275400

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

POF1B

POF1B actin binding protein

MIM:300604

NCBI chr X:85,277,396...85,379,665
Ensembl chr X:85,277,396...85,379,717

POLR3A

RNA polymerase III subunit A

MIM:607694 ORPHA:447896

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

POLR3B

RNA polymerase III subunit B

MIM:607694

NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198

POLR3GL

RNA polymerase III subunit GL

MIM:619234

NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848

POLR3H

RNA polymerase III subunit H

ORPHA:243

NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606

proopiomelanocortin

NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903

POR

cytochrome p450 oxidoreductase

ORPHA:95699

NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855

POU1F1

POU class 1 homeobox 1

NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584

PPP1R15B

protein phosphatase 1 regulatory subunit 15B

MIM:616817 ORPHA:391408

NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887

PR/SET domain 13

NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578

prokineticin 2

NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206

prokineticin receptor 2

ORPHA:432 ORPHA:478 ORPHA:95496

NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954

PROP1

PROP paired-like homeobox 1

ORPHA:90695 ORPHA:95494

NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242

PSMC3IP

PSMC3 interacting protein

MIM:614324 ORPHA:243

NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831

PTPN11

protein tyrosine phosphatase non-receptor type 11

MIM:151100

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

PTRH2

peptidyl-tRNA hydrolase 2

MIM:616263 ORPHA:456312

NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626

PUS1

pseudouridine synthase 1

MIM:600462 ORPHA:2598

NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896

PWAR1

Prader Willi/Angelman region RNA 1

NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055

PWRN1

Prader-Willi region non-protein coding RNA 1

NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365

PYGL

glycogen phosphorylase L

ORPHA:369

NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483

RAB18

RAB18, member RAS oncogene family

NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

RAD21

RAD21 cohesin complex component

NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776

RAI1

retinoic acid induced 1

NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453

RBM28

RNA binding motif protein 28

MIM:612079 ORPHA:157954

NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908

ROBO1

roundabout guidance receptor 1

ORPHA:95496

NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998

RPL10

ribosomal protein L10

ORPHA:459070

NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ORPHA:480

NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961

SALL1

spalt like transcription factor 1

ORPHA:857

NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334

SCARB2

scavenger receptor class B member 2

ORPHA:77259

NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536

SEMA3A

semaphorin 3A

ClinVar Annotator: match by term: Delayed puberty

PMID:25636053 PMID:28492532

NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724

semaphorin 3E

NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139

SLC12A3

solute carrier family 12 member 3

MIM:263800 ORPHA:358

NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850

SLC29A3

solute carrier family 29 member 3

ORPHA:168569

NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423

SLC37A4

solute carrier family 37 member 4

MIM:232220 MIM:232240 ORPHA:79259

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

SMC1A

structural maintenance of chromosomes 1A

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SMC3

structural maintenance of chromosomes 3

NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048

SMPD1

sphingomyelin phosphodiesterase 1

ORPHA:77293

NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998

SNORD115-1

small nucleolar RNA, C/D box 115-1

NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804

SNORD116-1

small nucleolar RNA, C/D box 116-1

NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571

SNRPN

small nuclear ribonucleoprotein polypeptide N

ORPHA:177901 ORPHA:177904 ORPHA:98754

NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723

SOX10

SRY-box transcription factor 10

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

SOX11

SRY-box transcription factor 11

MIM:615866

NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385

SOX3

SRY-box transcription factor 3

ORPHA:90695

NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069

SOX9

SRY-box transcription factor 9

NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416

SPIDR

scaffold protein involved in DNA repair

MIM:619665 ORPHA:243

NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306

sprouty RTK signaling antagonist 4

NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455

SPTBN1

spectrin beta, non-erythrocytic 1

MIM:619475

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

SRY

sex determining region Y

ORPHA:1772 ORPHA:251510

NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682

STAT1

signal transducer and activator of transcription 1

MIM:614162 ORPHA:391487

NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960

STAT3

signal transducer and activator of transcription 3

MIM:615952

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568

STAT5B

signal transducer and activator of transcription 5B

MIM:618985

NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633

tachykinin precursor 3

ClinVar Annotator: match by term: Pubertal delay
ClinVar Annotator: match by term: Delayed puberty

PMID:25636053 PMID:28492532 PMID:29419413

NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883

tachykinin receptor 3

ClinVar Annotator: match by term: Delayed puberty

PMID:25636053

NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985

TAF13

TATA-box binding protein associated factor 13

MIM:617432

NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012

TBC1D20

TBC1 domain family member 20

NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566

TBX3

T-box transcription factor 3

MIM:181450 ORPHA:3138

NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175

TCF12

transcription factor 12

MIM:619718

NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281

TGFB1

transforming growth factor beta 1

MIM:131300 ORPHA:1328

NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922

TOM1

target of myb1 membrane trafficking protein

ORPHA:391487

NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992

TRIP4

thyroid hormone receptor interactor 4

ORPHA:486815

NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303

TRMT10A

tRNA methyltransferase 10A

MIM:616033 ORPHA:391408

NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039

USP9X

ubiquitin specific peptidase 9 X-linked

ORPHA:480880

NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579

VAMP7

vesicle associated membrane protein 7

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

VPS13B

vacuolar protein sorting 13 homolog B

MIM:216550 ORPHA:193

NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580

WDR11

WD repeat domain 11

ORPHA:432 ORPHA:478 ORPHA:95496

NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524

WFS1

wolframin ER transmembrane glycoprotein

ORPHA:3463 ORPHA:411590

NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265

WT1

WT1 transcription factor

NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564

WWOX

WW domain containing oxidoreductase

NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667

YARS2

tyrosyl-tRNA synthetase 2

ORPHA:2598

NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897

ZBTB20

zinc finger and BTB domain containing 20

MIM:259050

NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292

ZFPM2

zinc finger protein, FOG family member 2

NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539

ZMPSTE24

zinc metallopeptidase STE24

ORPHA:90154

NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180

ZSWIM7

zinc finger SWIM-type containing 7

MIM:619834 ORPHA:243

NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717

Delayed thelarche

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

centromere protein T

NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811

TRMT10A

tRNA methyltransferase 10A

MIM:616033

NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039

Early onset of sexual maturation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

elastin

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

MLXIPL

MLX interacting protein like

MIM:194050

NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543

Female hypogonadism

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

aryl hydrocarbon receptor interacting protein

ORPHA:2965

NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154

autoimmune regulator

NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648

ATM

ATM serine/threonine kinase

MIM:208900

NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102

BMP4

bone morphogenetic protein 4

MIM:607932

NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761

cadherin related 23

NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947

chromodomain helicase DNA binding protein 7

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

dual specificity phosphatase 6

NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501

fibroblast growth factor 17

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

fibroblast growth factor 8

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

fibroblast growth factor receptor 1

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

follicle stimulating hormone subunit beta

NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261

gonadotropin releasing hormone 1

NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654

gonadotropin releasing hormone receptor

NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388

heparan sulfate 6-O-sulfotransferase 1

NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

KiSS-1 metastasis suppressor

NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491

KISS1 receptor

NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005

lamin A/C

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081

menin 1

NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294

nescient helix-loop-helix 2

NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917

NMDA receptor synaptonuclear signaling and neuronal migration factor

NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334

prolactin receptor

NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487

prokineticin 2

NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206

prokineticin receptor 2

NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954

sprouty RTK signaling antagonist 4

NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455

tachykinin precursor 3

NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883

tachykinin receptor 3

NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985

WD repeat domain 11

NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524

ZMPSTE24

zinc metallopeptidase STE24

ORPHA:740

NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180

Hypergonadotropic hypogonadism

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AHSG

alpha 2-HS glycoprotein

ORPHA:2850

NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318

ALMS1

ALMS1 centrosome and basal body associated protein

MIM:203800 ORPHA:64

NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166

AMACR

alpha-methylacyl-CoA racemase

MIM:614307

NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104

BMP15

bone morphogenetic protein 15

MIM:300510

NCBI chr X:50,910,735...50,916,641
Ensembl chr X:50,910,735...50,916,641

BMPR1B

bone morphogenetic protein receptor type 1B

MIM:609441

NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448

BRCC3

BRCA1/BRCA2-containing complex subunit 3

ORPHA:280679

NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077

CLPP

caseinolytic mitochondrial matrix peptidase proteolytic subunit

MIM:614129

NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242

COQ2

coenzyme Q2, polyprenyltransferase

MIM:607426

NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914

CTDP1

CTD phosphatase subunit 1

MIM:604168

NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503

cytochrome b5 type A

NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973

cytochrome P450 family 17 subfamily A member 1

ORPHA:90796

NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472

CYP19A1

cytochrome P450 family 19 subfamily A member 1

MIM:613546 ORPHA:91

NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601

DCAF17

DDB1 and CUL4 associated factor 17

MIM:241080

NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052

DHH

desert hedgehog signaling molecule

MIM:607080

NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801

DEAH-box helicase 37

NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131

FANCA

FA complementation group A

MIM:227650

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FANCB

FA complementation group B

MIM:300514

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

MIM:227645

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

MIM:227646

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

MIM:600901

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

forkhead box L2

NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137

galactokinase 1

NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236

GALT

galactose-1-phosphate uridylyltransferase

MIM:230400

NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035

GATA4

GATA binding protein 4

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GNAS

GNAS complex locus

ORPHA:79443 ORPHA:79444

NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192

ITGB6

integrin subunit beta 6

ORPHA:2850

NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888

leptin

NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629

LEPR

leptin receptor

MIM:614963 ORPHA:179494

NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559

LHCGR

luteinizing hormone/choriogonadotropin receptor

ClinVar Annotator: match by term: Primary hypogonadism
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism

PMID:2244890 PMID:7556872 PMID:9851790 PMID:12679452 PMID:25741868 More...

MIM:238320

NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730

DNA ligase 3

NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743

LMNA

lamin A/C

MIM:212112 ORPHA:2229

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081

lanosterol synthase

NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824

MANF

mesencephalic astrocyte derived neurotrophic factor

MIM:620651

NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397

mitogen-activated protein kinase kinase kinase 1

NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152

MGME1

mitochondrial genome maintenance exonuclease 1

MIM:615084 ORPHA:352447

NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122

MRE11

MRE11 homolog, double strand break repair nuclease

ORPHA:251347

NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885

MRPS7

mitochondrial ribosomal protein S7

MIM:617872

NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376

nuclear receptor subfamily 0 group B member 1

NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390

NR5A1

nuclear receptor subfamily 5 group A member 1

NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420

nucleoporin 107

NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809

phosphomannomutase 2

NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534

POLA1

DNA polymerase alpha 1, catalytic subunit

ORPHA:163976

NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986

POLG

DNA polymerase gamma, catalytic subunit

MIM:157640 ORPHA:298

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

POLR1C

RNA polymerase I and III subunit C

ORPHA:88637

NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419

POLR3A

RNA polymerase III subunit A

ORPHA:88637

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

POLR3B

RNA polymerase III subunit B

ORPHA:88637

NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198

PRORP

protein only RNase P catalytic subunit

MIM:619737

NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622

RIN2

Ras and Rab interactor 2

MIM:613075 ORPHA:217335

NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ORPHA:298

NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961

SAMD9

sterile alpha motif domain containing 9

MIM:617053

NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023

SCP2

sterol carrier protein 2

MIM:613724

NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698

SIL1

SIL1 nucleotide exchange factor

MIM:248800

NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557

SLC29A3

solute carrier family 29 member 3

MIM:602782

NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423

SOX9

SRY-box transcription factor 9

NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416

sequestosome 1

NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078

SRY

sex determining region Y

MIM:400044 ORPHA:251510

NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682

STON1-GTF2A1L

STON1-GTF2A1L readthrough

ClinVar Annotator: match by term: Primary hypogonadism
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism

PMID:2244890 PMID:7556872 PMID:9851790 PMID:12679452 PMID:25741868 More...

NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517

TWNK

twinkle mtDNA helicase

MIM:271245 MIM:616138

NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403

TYMP

thymidine phosphorylase

ORPHA:298

NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032

VAMP7

vesicle associated membrane protein 7

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

WT1

WT1 transcription factor

ORPHA:251510 ORPHA:347

NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564

WWOX

WW domain containing oxidoreductase

NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667

ZBTB20

zinc finger and BTB domain containing 20

MIM:259050

NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292

ZFPM2

zinc finger protein, FOG family member 2

NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539

Hypogonadism

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCA4

ATP binding cassette subfamily A member 4

NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148

ABCD1

ATP binding cassette subfamily D member 1

MIM:300100

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

AGBL5

AGBL carboxypeptidase 5

NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622

AHI1

Abelson helper integration site 1

NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434

AHR

aryl hydrocarbon receptor

NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152

aryl hydrocarbon receptor interacting protein

ORPHA:2965

NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154

ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

MIM:608540

NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379

ALX homeobox 4

NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139

AMACR

alpha-methylacyl-CoA racemase

ORPHA:79095

NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104

ANAPC1

anaphase promoting complex subunit 1

ORPHA:221008

NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690

ankyrin 1

NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741

ANTXR1

ANTXR cell adhesion molecule 1

ORPHA:2067

NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327

androgen receptor

MIM:312300

NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619

ARHGEF18

Rho/Rac guanine nucleotide exchange factor 18

NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485

ARL2BP

ARF like GTPase 2 binding protein

NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635

ARF like GTPase 3

NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397

ARL6

ARF like GTPase 6

MIM:209900 ORPHA:110 ORPHA:791

NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229

arylsulfatase L

NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475

ATP5F1A

ATP synthase F1 subunit alpha

NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334

ATP5F1D

ATP synthase F1 subunit delta

NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825

ATP5F1E

ATP synthase F1 subunit epsilon

NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345

ATP5MK

ATP synthase membrane subunit k

NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492

ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2

NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209

ATRX

ATRX chromatin remodeler

MIM:309580

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

BBIP1

BBSome interacting protein 1

NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201

BBS1

Bardet-Biedl syndrome 1

MIM:209900 ORPHA:110 ORPHA:791

NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613

BBS10

Bardet-Biedl syndrome 10

MIM:615987 ORPHA:110

NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415

BBS12

Bardet-Biedl syndrome 12

MIM:615989 ORPHA:110

NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942

BBS2

Bardet-Biedl syndrome 2

MIM:615981 ORPHA:110 ORPHA:791

NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667

BBS4

Bardet-Biedl syndrome 4

MIM:615982 ORPHA:110

NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006

BBS5

Bardet-Biedl syndrome 5

MIM:615983 ORPHA:110

NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655

BBS7

Bardet-Biedl syndrome 7

MIM:615984 ORPHA:110

NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487

BBS9

Bardet-Biedl syndrome 9

NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

MIM:262000 ORPHA:123

NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443

bestrophin 1

NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515

BRAF

B-Raf proto-oncogene, serine/threonine kinase

MIM:163950 ORPHA:54595

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BRCA1

BRCA1 DNA repair associated

NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRIP1

BRCA1 interacting DNA helicase 1

NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559

carbonic anhydrase 4

NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899

CAMKMT

calmodulin-lysine N-methyltransferase

NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592

castor zinc finger 1

NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650

CC2D2A

coiled-coil and C2 domain containing 2A

NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552

CCDC28B

coiled-coil domain containing 28B

MIM:209900

NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453

cadherin related 23

NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947

CDHR1

cadherin related family member 1

NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621

CDKN1C

cyclin dependent kinase inhibitor 1C

ORPHA:85173

NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775

CEP19

centrosomal protein 19

NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250

CEP290

centrosomal protein 290

NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099

CERKL

CERK like autophagy regulator

NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665

CFAP418

cilia and flagella associated protein 418

ORPHA:110 ORPHA:791

NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201

CHRNG

cholinergic receptor nicotinic gamma subunit

ORPHA:2990

NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115

CISD2

CDGSH iron sulfur domain 2

ORPHA:3463

NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807

CKAP2L

cytoskeleton associated protein 2 like

ClinVar Annotator: match by term: Hypogonadism

NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664

clarin 1

NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727

CNBP

CCHC-type zinc finger nucleic acid binding protein

MIM:602668

NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922

CNGA1

cyclic nucleotide gated channel subunit alpha 1

NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681

CNGB1

cyclic nucleotide gated channel subunit beta 1

NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128

CRB1

crumbs cell polarity complex component 1

NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455

cone-rod homeobox

NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330

catenin beta 1

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

CUL4B

cullin 4B

MIM:300354 ORPHA:85293

NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074

DDB2

damage specific DNA binding protein 2

ORPHA:910

NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217

DHDDS

dehydrodolichyl diphosphate synthase subunit

NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306

DEAH-box helicase 38

NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912

DM1 protein kinase

NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552

dynamin 1 like

NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

ORPHA:1466

NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

MIM:601675 ORPHA:1466 ORPHA:910

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

MIM:610651 ORPHA:910

NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

ORPHA:84 ORPHA:910

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

ERCC5

ERCC excision repair 5, endonuclease

ORPHA:1466 ORPHA:910

NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995

ERCC6

ERCC excision repair 6, chromatin remodeling factor

ORPHA:1466

NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

MIM:216400

NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073

eyes shut homolog

NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226

FAM161A

FAM161 centrosomal protein A

NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143

FANCA

FA complementation group A

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FANCB

FA complementation group B

MIM:300514 ORPHA:84

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCC

FA complementation group C

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCE

FA complementation group E

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCF

FA complementation group F

NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823

FANCG

FA complementation group G

NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004

FANCI

FA complementation group I

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FANCL

FA complementation group L

NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410

FANCM

FA complementation group M

NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890

FEZF1

FEZ family zinc finger 1

MIM:616030

NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691

fibroblast growth factor 17

MIM:615270

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

FMR1

fragile X messenger ribonucleoprotein 1

ORPHA:261483

NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125

FSCN2

fascin actin-bundling protein 2, retinal

NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130

follicle stimulating hormone subunit beta

MIM:229070

NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261

GABRD

gamma-aminobutyric acid type A receptor subunit delta

NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758

GLI family zinc finger 2

MIM:615849

NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653

GNAS

GNAS complex locus

MIM:103580 MIM:612462

NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192

GUCA1B

guanylate cyclase activator 1B

NCBI chr 6:42,183,284...42,194,956
Ensembl chr 6:42,183,284...42,194,956

HAMP

hepcidin antimicrobial peptide

MIM:613313 ORPHA:79230

NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143

HBB

hemoglobin subunit beta

ORPHA:231222

NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395

HDAC8

histone deacetylase 8

MIM:300882

NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101

HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase

NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855

HJV

hemojuvelin BMP co-receptor

ORPHA:79230

NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746

HSPG2

heparan sulfate proteoglycan 2

NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310

IDH3A

isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945

IDH3B

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta

NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,393...2,664,219

IER3IP1

immediate early response 3 interacting protein 1

MIM:614231

NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364

IFT140

intraflagellar transport 140

NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072

IFT172

intraflagellar transport 172

ORPHA:110 ORPHA:791

NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805

IFT27

intraflagellar transport 27

MIM:615996 ORPHA:110

NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256

IFT74

intraflagellar transport 74

MIM:617119 ORPHA:110

NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134

IFT88

intraflagellar transport 88

NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444

IGF1

insulin like growth factor 1

ORPHA:73272

NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744

interleukin 17 receptor D

ClinVar Annotator: match by term: Hypogonadism

PMID:25741868

MIM:615267

NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306

IMPDH1

inosine monophosphate dehydrogenase 1

NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986

IMPG1

interphotoreceptor matrix proteoglycan 1

NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678

IMPG2

interphotoreceptor matrix proteoglycan 2

NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575

KCNAB2

potassium voltage-gated channel subfamily A regulatory beta subunit 2

NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193

NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389

KIZ

kizuna centrosomal protein

NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622

KLHL7

kelch like family member 7

NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914

leptin

NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629

lamin A/C

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081

LOC126806689

BRD4-independent group 4 enhancer GRCh37_chr3:57131244-57132443

ClinVar Annotator: match by term: Hypogonadism

PMID:25741868

NCBI chr 3:57,097,216...57,098,415

LRAT

lecithin retinol acyltransferase

NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120

LUZP1

leucine zipper protein 1

NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152

LZTFL1

leucine zipper transcription factor like 1

MIM:615994 ORPHA:110

NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042

MAD2L2

mitotic arrest deficient 2 like 2

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811

MAGE family member L2

MIM:615547 ORPHA:398069

NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867

MAK

male germ cell associated kinase

NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553

MAP2K1

mitogen-activated protein kinase kinase 1

MIM:163950

NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656

MDM2 proto-oncogene

NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544

menin 1

NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294

MERTK

MER proto-oncogene, tyrosine kinase

NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561

MKKS

MKKS centrosomal shuttling protein

NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222

MKS1

MKS transition zone complex subunit 1

NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605

MMP23B

matrix metallopeptidase 23B

NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ATP8

mitochondrially encoded ATP synthase membrane subunit 8

NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572

myosin heavy chain 3

NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309

MYT1L

myelin transcription factor 1 like

ORPHA:647799

NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664

NECTIN1

nectin cell adhesion molecule 1

ORPHA:3253

NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200

NEK2

NIMA related kinase 2

NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630

nephrocystin 1

NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066

NR2E3

nuclear receptor subfamily 2 group E member 3

NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259

NRL

neural retina leucine zipper

NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010

OFD1

OFD1 centriole and centriolar satellite protein

NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955

OPA1

OPA1 mitochondrial dynamin like GTPase

ORPHA:98673

NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811

PALB2

partner and localizer of BRCA2

NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321

PCARE

photoreceptor cilium actin regulator

NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523

phosphodiesterase 4D

NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120

phosphodiesterase 6A

NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793

phosphodiesterase 6B

NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782

phosphodiesterase 6G

NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112

podoplanin

NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957

PEX1

peroxisomal biogenesis factor 1

ORPHA:3220

NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520

PEX6

peroxisomal biogenesis factor 6

ORPHA:3220

NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181

PHD finger protein 6

NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791

PHGDH

phosphoglycerate dehydrogenase

ORPHA:79351

NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218

PNPLA6

patatin like phospholipase domain containing 6

MIM:275400 ORPHA:1173 ORPHA:3363

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

POLE

DNA polymerase epsilon, catalytic subunit

ORPHA:85173

NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376

POMGNT1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305

PPM1B

protein phosphatase, Mg2+/Mn2+ dependent 1B

NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384

PRCD

photoreceptor disc component

NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578

PR/SET domain 16

NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621

PREPL

prolyl endopeptidase like

NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

MIM:101800 ORPHA:950

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

PRKCZ

protein kinase C zeta

NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395

prominin 1

NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378

PROP1

PROP paired-like homeobox 1

MIM:262600

NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242

PRPF3

pre-mRNA processing factor 3

NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233

PRPF31

pre-mRNA processing factor 31

NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719

PRPF4

pre-mRNA splicing tri-snRNP complex factor PRPF4

NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009

PRPF6

pre-mRNA processing factor 6

NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100

PRPF8

pre-mRNA processing factor 8

NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867

peripherin 2

NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597

PTDSS1

phosphatidylserine synthase 1

ORPHA:2658

NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995

PTPN11

protein tyrosine phosphatase non-receptor type 11

MIM:163950

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

RAD51 recombinase

NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340

RAD51 paralog C

NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611

RBP3

retinol binding protein 3

NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881

RDH12

retinol dehydrogenase 12

NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451

RecQ like helicase 4

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

REEP6

receptor accessory protein 6

NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927

RERE

arginine-glutamic acid dipeptide repeats

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

RFWD3

ring finger and WD repeat domain 3

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

RGR

retinal G protein coupled receptor

NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960

rhodopsin

NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344

RLBP1

retinaldehyde binding protein 1

NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614

RNF216

ring finger protein 216

ORPHA:1173

NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696

ROM1

retinal outer segment membrane protein 1

NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116

RP1

RP1 axonemal microtubule associated

NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720

RP1 like 1

NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187

RP2

RP2 activator of ARL3 GTPase

NCBI chr X:46,837,043...46,882,358
Ensembl chr X:46,837,043...46,882,358

RP9

RP9 pre-mRNA splicing factor

NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405

RPE65

retinoid isomerohydrolase RPE65

NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103

RPGR

retinitis pigmentosa GTPase regulator

NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544

SAG

S-antigen visual arrestin

NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055

SCAPER

S-phase cyclin A associated protein in the ER

ORPHA:110 ORPHA:791

NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444

SCLT1

sodium channel and clathrin linker 1

NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600

SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

MIM:615993 ORPHA:110

NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091

semaphorin 3A

NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724

semaphorin 4A

NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752

SGPL1

sphingosine-1-phosphate lyase 1

MIM:617575

NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,958,701

SIL1

SIL1 nucleotide exchange factor

ORPHA:559

NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557

SIM1

SIM bHLH transcription factor 1

ORPHA:398079

NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921

SKI proto-oncogene

NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213

SLC29A3

solute carrier family 29 member 3

ORPHA:168569

NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423

SLC30A7

solute carrier family 30 member 7

MIM:620501

NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260

SLC39A4

solute carrier family 39 member 4

MIM:201100

NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844

SLC3A1

solute carrier family 3 member 1

NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494

SLC7A14

solute carrier family 7 member 14

NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075

SLX4

SLX4 structure-specific endonuclease subunit

NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606

SMAD family member 4

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

ORPHA:2250

NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017

SNAP29

synaptosome associated protein 29

ORPHA:66631

NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214

SNRNP200

small nuclear ribonucleoprotein U5 subunit 200

NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271

SOX10

SRY-box transcription factor 10

MIM:613266 ORPHA:163746

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

SPATA7

spermatogenesis associated 7

NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350

SPEN

spen family transcriptional repressor

NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456

SPRTN

SprT-like N-terminal domain

MIM:616200

NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023

STEAP3

STEAP3 metalloreductase

MIM:615234 ORPHA:300298

NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652

steroid sulfatase

NCBI chr X:7,147,290...7,354,641
Ensembl chr X:7,147,237...7,804,358

STUB1

STIP1 homology and U-box containing protein 1

MIM:615768 ORPHA:412057

NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870

TGFB1

transforming growth factor beta 1

ORPHA:1328

NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922

TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586

tumor protein p53

NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546

TRAF3IP1

TRAF3 interacting protein 1

MIM:616629

NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897

TRIM32

tripartite motif containing 32

MIM:615988 ORPHA:110

NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300

TTC8

tetratricopeptide repeat domain 8

MIM:615985 ORPHA:110 ORPHA:791

NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078

TUB

TUB bipartite transcription factor

NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243

TUB like protein 1

NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896

TWNK

twinkle mtDNA helicase

MIM:609286

NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403

UBE2T

ubiquitin conjugating enzyme E2 T

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984

UBE4B

ubiquitination factor E4B

NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239

usherin

NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448

USP7

ubiquitin specific peptidase 7

ORPHA:500055

NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328

VPS4A

vacuolar protein sorting 4 homolog A

MIM:619273

NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939

WDPCP

WD repeat containing planar cell polarity effector

NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843

WFS1

wolframin ER transmembrane glycoprotein

ORPHA:3463

NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265

WRN

WRN RecQ like helicase

MIM:277700 ORPHA:902

NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138

XPA

XPA, DNA damage recognition and repair factor

ORPHA:910

NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340

XPC

XPC complex subunit, DNA damage recognition and repair factor

ORPHA:910

NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621

XRCC2

X-ray repair cross complementing 2

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

ZBTB20

zinc finger and BTB domain containing 20

ORPHA:3042

NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292

ZNF408

zinc finger protein 408

NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912

ZNF513

zinc finger protein 513

NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790

Hypogonadotropic hypogonadism

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AC079385.1

novel transcript, antisense to POLR3B, RFX4 and RIC8B.

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:27512013

NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926

aryl hydrocarbon receptor interacting protein

ORPHA:2965 ORPHA:963

NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154

AKT1

AKT serine/threonine kinase 1

ORPHA:2495

NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759

ankyrin 1

NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741

ANOS1

anosmin 1

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 More...

MIM:308700 ORPHA:478

NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137

AXL

AXL receptor tyrosine kinase

MIM:146110

NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766

BAP1

BRCA1 associated deubiquitinase 1

ORPHA:2495

NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008

BAZ1B

bromodomain adjacent to zinc finger domain 1B

NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293

BMP2

bone morphogenetic protein 2

MIM:235200

NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246

BMP6

bone morphogenetic protein 6

ORPHA:465508

NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ORPHA:54595

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

chromobox 2

NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983

CCDC141

coiled-coil domain containing 141

ClinVar Annotator: match by term: Hypogonadotropic hypogonadism

MIM:146110 ORPHA:478

NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137

cadherin related 23

NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947

CHD4

chromodomain helicase DNA binding protein 4

MIM:617159

NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524

chromodomain helicase DNA binding protein 7

MIM:214800 MIM:612370 ORPHA:138 ORPHA:432 ORPHA:478

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

CLIP2

CAP-Gly domain containing linker protein 2

NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935

COL25A1

collagen type XXV alpha 1 chain

ORPHA:45358

NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752

carboxypeptidase E

NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547

CTDP1

CTD phosphatase subunit 1

MIM:604168 ORPHA:48431

NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503

catenin beta 1

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

DCAF17

DDB1 and CUL4 associated factor 17

MIM:241080

NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052

DCC

DCC netrin 1 receptor

ORPHA:238722 ORPHA:478

NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899

DHH

desert hedgehog signaling molecule

ORPHA:242

NCBI chr12:49,086,656...49,094,801
Ensembl chr12:49,086,656...49,094,801

DEAH-box helicase 37

NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131

DMRT1

doublesex and mab-3 related transcription factor 1

ORPHA:242

NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090

DMXL2

Dmx like 2

MIM:616113 ORPHA:453533

NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453

DNAL4

dynein axonemal light chain 4

ORPHA:238722

NCBI chr22:38,778,508...38,794,143
Ensembl chr22:38,778,508...38,794,198

dual specificity phosphatase 6

MIM:146110 MIM:615269 ORPHA:432 ORPHA:478

NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501

EIF4H

eukaryotic translation initiation factor 4H

NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122

elastin

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

FEZF1

FEZ family zinc finger 1

MIM:146110 ORPHA:478

NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691

fibroblast growth factor 17

MIM:146110 ORPHA:432 ORPHA:478

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

fibroblast growth factor 8

MIM:612702 ORPHA:432 ORPHA:478

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

fibroblast growth factor receptor 1

MIM:147950 ORPHA:432 ORPHA:478

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637

FLRT3

fibronectin leucine rich transmembrane protein 3

NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614

forkhead box A2

NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455

follicle stimulating hormone subunit beta

NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261

GJB2

gap junction protein beta 2

ORPHA:494

NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938

GLI family zinc finger 2

NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653

gonadotropin releasing hormone 1

MIM:146110 MIM:614841 ORPHA:432

NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654

gonadotropin releasing hormone receptor

ClinVar Annotator: match by term: Low gonadotropins (secondary hypogonadism)

PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 More...

MIM:146110 ORPHA:432

NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388

GPR101

G protein-coupled receptor 101

ORPHA:963

NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995

GTF2I

general transcription factor IIi

NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692

GTF2IRD1

GTF2I repeat domain containing 1

NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605

GTF2IRD2

GTF2I repeat domain containing 2

NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605

HDAC8

histone deacetylase 8

ORPHA:3459

NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101

HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179

HESX1

HESX homeobox 1

ORPHA:226307 ORPHA:478 ORPHA:95494

NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606

HFE

homeostatic iron regulator

MIM:235200 ORPHA:465508

NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343

HJV

hemojuvelin BMP co-receptor

MIM:602390

NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746

heparan sulfate 6-O-sulfotransferase 1

NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

HSD17B3

hydroxysteroid 17-beta dehydrogenase 3

ORPHA:752

NCBI chr 9:96,235,306...96,302,176
Ensembl chr 9:96,235,306...96,302,176

interleukin 17 receptor D

NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306

IPW

imprinted in Prader-Willi syndrome

NCBI chr15:25,116,545...25,122,476

KIF21A

kinesin family member 21A

ORPHA:45358

NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390

KiSS-1 metastasis suppressor

MIM:614842 ORPHA:432

NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491

KISS1 receptor

NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005

KRAS

KRAS proto-oncogene, GTPase

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

LAS1L

LAS1 like ribosome biogenesis factor

ORPHA:3459

NCBI chr X:65,512,582...65,534,787
Ensembl chr X:65,438,549...65,534,810

LGR4

leucine rich repeat containing G protein-coupled receptor 4

MIM:619613

NCBI chr11:27,365,961...27,472,790
Ensembl chr11:27,365,961...27,472,790

LHB

luteinizing hormone subunit beta

MIM:228300

NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091

LIM homeobox 3

NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128

LHX4

LIM homeobox 4

ORPHA:226307 ORPHA:95494

NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984

DNA ligase 3

NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743

LIM domain kinase 1

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

LZTR1

leucine zipper like post translational regulator 1

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

MAGE family member L2

MIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:177910 ORPHA:98754

NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867

mitogen-activated protein kinase kinase kinase 1

ORPHA:242

NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152

menin 1

NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294

METTL27

methyltransferase like 27

NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516

MKRN3

makorin ring finger protein 3

NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075

MKRN3-AS1

MKRN3 antisense RNA 1

muscle RAS oncogene homolog

NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534

MT-CO1

mitochondrially encoded cytochrome c oxidase I

NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445

MT-CO2

mitochondrially encoded cytochrome c oxidase II

NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269

MT-CO3

mitochondrially encoded cytochrome c oxidase III

NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137

MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673

MT-TF

mitochondrially encoded tRNA-Phe (UUU/C)

NCBI chr MT:577...647
Ensembl chr MT:577...647

MT-TH

mitochondrially encoded tRNA-His (CAU/C)

NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MT-TQ

mitochondrially encoded tRNA-Gln (CAA/G)

NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514

MT-TS2

mitochondrially encoded tRNA-Ser (AGU/C) 2

NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265

MT-TW

mitochondrially encoded tRNA-Trp (UGA/G)

NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579

NCF1

neutrophil cytosolic factor 1

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NDN

necdin, MAGE family member