Abnormality of the lower urinary tract - Ontology Report

NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370

PLP1

proteolipid protein 1

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

Abnormality of bladder morphology

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

IL1RN

interleukin 1 receptor antagonist

susceptibility

PMID:19489682 PMID:16698387

DNA:repeats:intron:IVS2+914_1000dup IL1RN*2
DNA:repeats:intron:IVS2+914_1000dup multiple

RGD

RGD:6907081, RGD:6907367

NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016

MMP1

matrix metallopeptidase 1

DNA:insertion:promoter:g.-1607insG

RGD

PMID:17986285

RGD:7207077

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

MTHFR

methylenetetrahydrofolate reductase

susceptibility
no_association

PMID:21046286 PMID:17311259 PMID:20146887

DNA:transversion:cds:g.1298A>C
protein:missense mutation:cds:p.A222V
DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C

RGD

RGD:6893477, RGD:6893597, RGD:6893516

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

MYC

MYC proto-oncogene, bHLH transcription factor

susceptibility

DNA:snp, haplotype:enhancer:g.-30772G>T (rs9642880)

RGD

PMID:23284801

RGD:7207401

NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951

PLAU

plasminogen activator, urokinase

DNA:snp:3' utr:g.4065C>T

RGD

PMID:16825821

RGD:7241144

NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496

SMAD3

SMAD family member 3

NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173

Abnormality of the bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALS2

alsin Rho guanine nucleotide exchange factor ALS2

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

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

BCL7B

BAF chromatin remodeling complex subunit BCL7B

NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690

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

CCND1

cyclin D1

NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474

CHRM3

cholinergic receptor muscarinic 3

NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452

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

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

EIF4H

eukaryotic translation initiation factor 4H

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

ELN

elastin

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

ERLIN2

ER lipid raft associated 2

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

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

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

KRAS proto-oncogene, GTPase

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

LAMA3

laminin subunit alpha 3

NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222

LAMB3

laminin subunit beta 3

NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425

LAMC2

laminin subunit gamma 2

NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127

LIMK1

LIM domain kinase 1

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

METTL27

methyltransferase like 27

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

MLXIPL

MLX interacting protein like

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

MTHFR

methylenetetrahydrofolate reductase

susceptibility

DNA:transversion:cds:g.1298A>C

RGD

PMID:19837268

RGD:6893521

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

NCF1

neutrophil cytosolic factor 1

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

PTEN

phosphatase and tensin homolog

DNA:mutations: :multiple

RGD

PMID:9671402

RGD:2292515

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930

RFC2

replication factor C subunit 2

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

STX1A

syntaxin 1A

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

TBL2

transducin beta like 2

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TLR5

toll like receptor 5

severity

DNA:nonsense mutation:cds:p.R392X

RGD

PMID:19543401

RGD:7246906

NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,248

TMEM270

transmembrane protein 270

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

VPS37D

VPS37D subunit of ESCRT-I

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

Abnormality of the urethra

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

HLA-B

major histocompatibility complex, class I, B

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

HOXA13

homeobox A13

NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091

HOXD13

homeobox D13

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

HSD17B3

hydroxysteroid 17-beta dehydrogenase 3

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

IKZF1

IKAROS family zinc finger 1

NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101

ITGB4

integrin subunit beta 4

NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818

PLEC

plectin

NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734

Aplasia of the bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

FREM2

FRAS1 related extracellular matrix 2

NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131

ITGA6

integrin subunit alpha 6

NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,427,354...172,506,459

ITGB4

integrin subunit beta 4

NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818

PLEC

plectin

NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734

Aplasia/Hypoplasia of the bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

LAMA3

laminin subunit alpha 3

NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222

LAMB3

laminin subunit beta 3

NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425

LAMC2

laminin subunit gamma 2

NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127

Bladder diverticulum

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALDH18A1

aldehyde dehydrogenase 18 family member A1

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

ATP7A

ATPase copper transporting alpha

NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395

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

BCL7B

BAF chromatin remodeling complex subunit BCL7B

NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690

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

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

COL1A1

collagen type I alpha 1 chain

NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632

COL1A2

collagen type I alpha 2 chain

NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227

COL3A1

collagen type III alpha 1 chain

NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746

COL5A1

collagen type V alpha 1 chain

NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843

COL5A2

collagen type V alpha 2 chain

NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312

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

EFEMP1

EGF containing fibulin extracellular matrix protein 1

ClinVar Annotator: match by term: Bladder diverticula

NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139

EIF4H

eukaryotic translation initiation factor 4H

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

ELN

elastin

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

FBLN5

fibulin 5

NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987

FKBP14

FKBP prolyl isomerase 14

NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702

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

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

LIMK1

LIM domain kinase 1

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

METTL27

methyltransferase like 27

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

MLXIPL

MLX interacting protein like

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

NCF1

neutrophil cytosolic factor 1

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

PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538

RFC2

replication factor C subunit 2

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

SALL4

spalt like transcription factor 4

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

STX1A

syntaxin 1A

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

TBL2

transducin beta like 2

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TMEM270

transmembrane protein 270

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

VPS37D

VPS37D subunit of ESCRT-I

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

Bladder exstrophy

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CDH11

cadherin 11

NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112

ISL1

ISL LIM homeobox 1

NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730

KRAS proto-oncogene, GTPase

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

LZTR1

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Bladder exstrophy

PMID:28492532

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

MED12

mediator complex subunit 12

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

PAH

phenylalanine hydroxylase

NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

UPB1

beta-ureidopropionase 1

NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390

Bladder polyp

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

STK11

serine/threonine kinase 11

NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431

Bladder trabeculation

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

leucine rich repeats and immunoglobulin like domains 2

NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

Congenital posterior urethral valve

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC2

APC regulator of WNT signaling pathway 2

NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244

basonuclin 2

NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843

CHRM3

cholinergic receptor muscarinic 3

NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452

H19-ICR

H19/IGF2 imprinting control region

NCBI chr11:1,998,202...2,003,509

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784

IGF2

insulin like growth factor 2

NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391

MID1

midline 1

NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654

NSD1

nuclear receptor binding SET domain protein 1

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

SETD2

SET domain containing 2, histone lysine methyltransferase

NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113

SRCAP

Snf2 related CREBBP activator protein

NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409

Coronal hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FGFR2

fibroblast growth factor receptor 2

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578

TBX22

T-box transcription factor 22

NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774

Cystocele

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COL3A1

collagen type III alpha 1 chain

NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746

SMAD3

SMAD family member 3

NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173

Detrusor sphincter dyssynergia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALMS1

ALMS1 centrosome and basal body associated protein

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

FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

Dilatation of the bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FOXF1

forkhead box F1

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

Displacement of the urethral meatus

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

androgen receptor

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

ARL6IP6

ADP ribosylation factor like GTPase 6 interacting protein 6

NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396

BDNF

brain derived neurotrophic factor

NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058

CLMP

CXADR like membrane protein

NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,248

CTC1

CST telomere replication complex component 1

NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058

DKC1

dyskerin pseudouridine synthase 1

NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689

FLNA

filamin A

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

GNA11

G protein subunit alpha 11

NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999

GSTM1

glutathione S-transferase mu 1

DNA:deletion, haplotype: :

RGD

PMID:21300689

RGD:11576313

NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039

GSTT1

glutathione S-transferase theta 1

DNA:deletion, haplotype: :

RGD

PMID:21300689

RGD:11576313

mastermind like domain containing 1

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

NHP2

NHP2 ribonucleoprotein

NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894

NOP10

NOP10 ribonucleoprotein

NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180

NPM1

nucleophosmin 1

NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810

PARN

poly(A)-specific ribonuclease

NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728

PAX6

paired box 6

NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961

PNPLA6

patatin like phospholipase domain containing 6

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

RTEL1

regulator of telomere elongation helicase 1

NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253

TBX1

T-box transcription factor 1

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TERC

telomerase RNA component

NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047

TERT

telomerase reverse transcriptase

NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068

TINF2

TERF1 interacting nuclear factor 2

NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663

TYMS

thymidylate synthetase

NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578

USB1

U6 snRNA biogenesis phosphodiesterase 1

NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618

WRAP53

WD repeat containing antisense to TP53

NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502

WT1

WT1 transcription factor

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

Distal urethral duplication

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

GLI3

GLI family zinc finger 3

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

Dysuria

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AGXT

alanine--glyoxylate aminotransferase

NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502

AIP

aryl hydrocarbon receptor interacting protein

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

ALMS1

ALMS1 centrosome and basal body associated protein

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

APRT

adenine phosphoribosyltransferase

NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937

basonuclin 2

NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843

CARMIL2

capping protein regulator and myosin 1 linker 2

NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569

CISD2

CDGSH iron sulfur domain 2

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

GPR101

G protein-coupled receptor 101

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

HLA-B

major histocompatibility complex, class I, B

NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067

HMBS

hydroxymethylbilane synthase

NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834

HOGA1

4-hydroxy-2-oxoglutarate aldolase 1

NCBI chr10:97,584,389...97,612,802
Ensembl chr10:97,584,323...97,612,802

HPRT1

hypoxanthine phosphoribosyltransferase 1

NCBI chr X:134,460,165...134,500,668
Ensembl chr X:134,460,165...134,520,513

IKZF1

IKAROS family zinc finger 1

NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101

LAMA3

laminin subunit alpha 3

NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222

LAMB3

laminin subunit beta 3

NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425

LAMC2

laminin subunit gamma 2

NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127

SPART

spartin

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

WFS1

wolframin ER transmembrane glycoprotein

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

Enuresis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AGXT

alanine--glyoxylate aminotransferase

NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502

CLCNKB

chloride voltage-gated channel Kb

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

DLG3

discs large MAGUK scaffold protein 3

NCBI chr X:70,444,835...70,505,490
Ensembl chr X:70,444,835...70,505,490

DMPK

DM1 protein kinase

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

DPH1

diphthamide biosynthesis 1

NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898

ELN

elastin

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

FAM20A

FAM20A golgi associated secretory pathway pseudokinase

NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367

FOXP1

forkhead box P1

NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978

HPSE2

heparanase 2 (inactive)

NCBI chr10:98,457,077...99,315,951
Ensembl chr10:98,457,077...99,235,862

KCNJ10

potassium inwardly rectifying channel subfamily J member 10

NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160

leucine rich repeats and immunoglobulin like domains 2

NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260

MLXIPL

MLX interacting protein like

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

NPHP3

nephrocystin 3

NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432

POLRMT

RNA polymerase mitochondrial

NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537

RNF125

ring finger protein 125

NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219

SLC12A3

solute carrier family 12 member 3

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

SLC25A13

solute carrier family 25 member 13

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

SLC5A2

solute carrier family 5 member 2

NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624

ZMYM2

zinc finger MYM-type containing 2

NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829

Enuresis nocturna

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADNP

activity dependent neuroprotector homeobox

NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437

AQP2

aquaporin 2

NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878

AVPR2

arginine vasopressin receptor 2

NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166

BMP1

bone morphogenetic protein 1

NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326

basonuclin 2

NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843

FA2H

fatty acid 2-hydroxylase

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

kyphoscoliosis peptidase

NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636

PRKAR1B

protein kinase cAMP-dependent type I regulatory subunit beta

NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650

RNF168

ring finger protein 168

NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768

SLC5A2

solute carrier family 5 member 2

NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860

Epispadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ANKRD11

ankyrin repeat domain containing 11

NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561

C2CD3

C2 domain containing 3 centriole elongation regulator

NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210

CDC45

cell division cycle 45

NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612

CDC6

cell division cycle 6

NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657

CDT1

chromatin licensing and DNA replication factor 1

NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258

COX7B

cytochrome c oxidase subunit 7B

NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376

DVL1

dishevelled segment polarity protein 1

NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418

DVL3

dishevelled segment polarity protein 3

NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010

EVC

EvC ciliary complex subunit 1

NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305

EVC2

EvC ciliary complex subunit 2

NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548

FZD2

frizzled class receptor 2

NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262

GLI1

GLI family zinc finger 1

NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268

GMNN

geminin DNA replication inhibitor

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

HCCS

holocytochrome c synthase

NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086

ISL1

ISL LIM homeobox 1

NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730

KRAS proto-oncogene, GTPase

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

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466

ORC1

origin recognition complex subunit 1

NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423

ORC4

origin recognition complex subunit 4

NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604

ORC6

origin recognition complex subunit 6

NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394

PIEZO2

piezo type mechanosensitive ion channel component 2

NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569

PRKACA

protein kinase cAMP-activated catalytic subunit alpha

NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084

PRKACB

protein kinase cAMP-activated catalytic subunit beta

NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498

PTDSS1

phosphatidylserine synthase 1

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

SMAD4

SMAD family member 4

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045

SRY

sex determining region Y

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

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

WNT5A

Wnt family member 5A

NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539

Fetal megacystis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FOXF1

forkhead box F1

ClinVar Annotator: match by term: Fetal megacystis

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

LMOD1

leiomodin 1

NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,588

MYH11

myosin heavy chain 11

NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028

MYLK

myosin light chain kinase

NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332

MYOCD

myocardin

NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949

Functional abnormality of the bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALMS1

ALMS1 centrosome and basal body associated protein

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

AQP2

aquaporin 2

NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878

AVPR2

arginine vasopressin receptor 2

NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166

CAPN1

calpain 1

NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006

CHST14

carbohydrate sulfotransferase 14

NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158

DSE

dermatan sulfate epimerase

NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861

STAT1

signal transducer and activator of transcription 1

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

TOM1

target of myb1 membrane trafficking protein

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

ZFYVE26

zinc finger FYVE-type containing 26

NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590

Glandular hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

HOXA13

homeobox A13

NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091

mastermind like domain containing 1

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

MKKS

MKKS centrosomal shuttling protein

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

MTM1

myotubularin 1

NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143

MYMK

myomaker, myoblast fusion factor

NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612

MYMX

myomixer, myoblast fusion factor

NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234

SRCAP

Snf2 related CREBBP activator protein

NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409

Grade II vesicoureteral reflux

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

UNC45A

unc-45 myosin chaperone A

NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093

Grade III vesicoureteral reflux

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SOX17

SRY-box transcription factor 17

NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892

ZMYM2

zinc finger MYM-type containing 2

NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829

Grade IV vesicoureteral reflux

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SOX17

SRY-box transcription factor 17

NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892

Hypertrophy of the urinary bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

Hypoplasia of the bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALG9

ALG9 alpha-1,2-mannosyltransferase

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

CCNQ

cyclin Q

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

GRIP1

glutamate receptor interacting protein 1

NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162

MBTPS2

membrane bound transcription factor peptidase, site 2

NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423

MED12

mediator complex subunit 12

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

MKS1

MKS transition zone complex subunit 1

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

WNT4

Wnt family member 4

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

Hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675

ACTA1

actin alpha 1, skeletal muscle

NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104

ADA2

adenosine deaminase 2

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

ADAT3

adenosine deaminase tRNA specific 3

NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447

AFF4

ALF transcription elongation factor 4

NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634

ALG12

ALG12 alpha-1,6-mannosyltransferase

NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438

APC2

APC regulator of WNT signaling pathway 2

NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244

androgen receptor

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

ARID1A

AT-rich interaction domain 1A

NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104

ARID1B

AT-rich interaction domain 1B

NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779

ARID2

AT-rich interaction domain 2

NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040

ARVCF

ARVCF delta catenin family member

NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823

ARX

aristaless related homeobox

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ATP6AP2

ATPase H+ transporting accessory protein 2

NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848

ATR

ATR serine/threonine kinase

NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733

ATRX

ATRX chromatin remodeler

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

B3GLCT

beta 3-glucosyltransferase

NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276

B9D2

B9 domain containing 2

NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165

BCOR

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

BICRA

BRD4 interacting chromatin remodeling complex associated protein

NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277

BRAF

B-Raf proto-oncogene, serine/threonine kinase

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 chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRD4

bromodomain containing 4

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

BRIP1

BRCA1 interacting helicase 1

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

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123

CARS1

cysteinyl-tRNA synthetase 1

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

CASZ1

castor zinc finger 1

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

CCDC22

coiled-coil domain containing 22

NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520

CCDC8

coiled-coil domain containing 8

NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564

CDC42

cell division cycle 42

NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360

CDC42BPB

CDC42 binding protein kinase beta

NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549

CDC45

cell division cycle 45

NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612

CDC6

cell division cycle 6

NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657

CDCA7

cell division cycle associated 7

NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997

CDH11

cadherin 11

NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112

CDKN1C

cyclin dependent kinase inhibitor 1C

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

CDT1

chromatin licensing and DNA replication factor 1

NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258

CEP152

centrosomal protein 152

NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146

CHRNA3

cholinergic receptor nicotinic alpha 3 subunit

NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295

CHRNG

cholinergic receptor nicotinic gamma subunit

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

CILK1

ciliogenesis associated kinase 1

NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824

COG1

component of oligomeric golgi complex 1

NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507

COL3A1

collagen type III alpha 1 chain

NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746

COLEC11

collectin subfamily member 11

NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644

COMT

catechol-O-methyltransferase

NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975

COX7B

cytochrome c oxidase subunit 7B

NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376

CPLX1

complexin 1

NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129

CREBBP

CREB binding protein

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

CSPP1

centrosome and spindle pole associated protein 1

NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778

CTBP1

C-terminal binding protein 1

NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333

CUL4B

cullin 4B

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

CUL7

cullin 7

NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943

CUX1

cut like homeobox 1

NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958

CYB5A

cytochrome b5 type A

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

CYP17A1

cytochrome P450 family 17 subfamily A member 1

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

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

DACT1

dishevelled binding antagonist of beta catenin 1

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

DCHS1

dachsous cadherin-related 1

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

DHCR7

7-dehydrocholesterol reductase

NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868

DHX37

DEAH-box helicase 37

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

DKC1

dyskerin pseudouridine synthase 1

NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689

DLL3

delta like canonical Notch ligand 3

NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481

DMRT3

doublesex and mab-3 related transcription factor 3

NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19

NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774

DPF2

double PHD fingers 2

NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262

DVL1

dishevelled segment polarity protein 1

NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418

DVL3

dishevelled segment polarity protein 3

NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010

DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A

NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358

EFNB1

ephrin B1

NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160

EHMT1

euchromatic histone lysine methyltransferase 1

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

EP300

E1A binding protein p300

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

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

ERMARD

ER membrane associated RNA degradation

NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

EVC

EvC ciliary complex subunit 1

NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305

EVC2

EvC ciliary complex subunit 2

NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548

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

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

FAT4

FAT atypical cadherin 4

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

FBXL4

F-box and leucine rich repeat protein 4

NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006

FDFT1

farnesyl-diphosphate farnesyltransferase 1

NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,304

FGFR1

fibroblast growth factor receptor 1

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

FGFR2

fibroblast growth factor receptor 2

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

FGFRL1

fibroblast growth factor receptor like 1

NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898

FIG4

FIG4 phosphoinositide 5-phosphatase

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

FLNA

filamin A

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

FOCAD

focadhesin

NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955

FOXC1

forkhead box C1

NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897

FOXF1

forkhead box F1

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

FRAS1

Fraser extracellular matrix complex subunit 1

NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269

FREM2

FRAS1 related extracellular matrix 2

NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131

FSCN3

fascin actin-bundling protein 3

ClinVar Annotator: match by term: Hypospadias

NCBI chr 7:127,593,736...127,602,144
Ensembl chr 7:127,591,409...127,602,144

FZD2

frizzled class receptor 2

NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262

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

GATA1

GATA binding protein 1

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

GATA4

GATA binding protein 4

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

GATAD2B

GATA zinc finger domain containing 2B

NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360

GLI1

GLI family zinc finger 1

NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268

GLI3

GLI family zinc finger 3

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

GMNN

geminin DNA replication inhibitor

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

GP1BB

glycoprotein Ib platelet subunit beta

NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771

GPC3

glypican 3

NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100

GPC4

glypican 4

NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489

GRB10

growth factor receptor bound protein 10

NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462

GRIP1

glutamate receptor interacting protein 1

NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162

H19-ICR

H19/IGF2 imprinting control region

NCBI chr11:1,998,202...2,003,509

H4C11

H4 clustered histone 11

NCBI chr 6:27,824,092...27,824,480
Ensembl chr 6:27,824,092...27,824,480

HBA1

hemoglobin subunit alpha 1

NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522

HBA2

hemoglobin subunit alpha 2

NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710

HCCS

holocytochrome c synthase

NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086

HDAC8

histone deacetylase 8

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

HES7

hes family bHLH transcription factor 7

NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106

HIRA

histone cell cycle regulator

NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450

HMGA2

high mobility group AT-hook 2

NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291

HNF1B

HNF1 homeobox B

NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784

HOXA13

homeobox A13

NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091

HOXD13

homeobox D13

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035

HSPG2

heparan sulfate proteoglycan 2

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

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752

HYLS1

HYLS1 centriolar and ciliogenesis associated

NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646

IGF2

insulin like growth factor 2

NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391

JMJD1C

jumonji domain containing 1C

NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850

KANSL1

KAT8 regulatory NSL complex subunit 1

NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389

KARS1

lysyl-tRNA synthetase 1

NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643

KAT5

lysine acetyltransferase 5

NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604

KAT6B

lysine acetyltransferase 6B

ClinVar Annotator: match by term: Hypospadias

ClinVar
HPO

NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624

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

KDM1A

lysine demethylase 1A

NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689

KDM3B

lysine demethylase 3B

NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028

KDM5B

lysine demethylase 5B

NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487

KDM6A

lysine demethylase 6A

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

KIAA0586

NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297

KIAA0753

NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711

KIF7

kinesin family member 7

NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086

KIFBP

kinesin family binding protein

NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544

KLF1

KLF transcription factor 1

NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201

KLHL40

kelch like family member 40

NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544

KLHL41

kelch like family member 41

NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258

KMT2D

lysine methyltransferase 2D

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

KRAS proto-oncogene, GTPase

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

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156

LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177

LIG4

DNA ligase 4

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

LMNA

lamin A/C

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

LMOD3

leiomodin 3

NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032

LRPPRC

leucine rich pentatricopeptide repeat containing

NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226

LSS

lanosterol synthase

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

LUZP1

leucine zipper protein 1

NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808

MAB21L2

mab-21 like 2

NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693

MAD2L2

mitotic arrest deficient 2 like 2

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811

MAP2K1

mitogen-activated protein kinase kinase 1

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

MAP3K1

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

MAPRE2

microtubule associated protein RP/EB family member 2

NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470

MBTPS2

membrane bound transcription factor peptidase, site 2

NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423

MCTP2

multiple C2 and transmembrane domain containing 2

NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952

MECP2

methyl-CpG binding protein 2

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MED12

mediator complex subunit 12

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

MED12L

mediator complex subunit 12L

NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072

MED25

mediator complex subunit 25

NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383

MESP2

mesoderm posterior bHLH transcription factor 2

NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754

MID1

midline 1

NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654

MKKS

MKKS centrosomal shuttling protein

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

MMP23B

matrix metallopeptidase 23B

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

MNX1

motor neuron and pancreas homeobox 1

NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663

MTOR

mechanistic target of rapamycin kinase

NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NDUFA6

NADH:ubiquinone oxidoreductase subunit A6

NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884

NDUFA8

NADH:ubiquinone oxidoreductase subunit A8

NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466

NDUFB7

NADH:ubiquinone oxidoreductase subunit B7

NCBI chr19:14,566,078...14,572,066
Ensembl chr19:14,566,078...14,572,066

NDUFS4

NADH:ubiquinone oxidoreductase subunit S4

NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338

NEB

nebulin

NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487

NELFA

negative elongation factor complex member A

NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903

NIPBL

NIPBL cohesin loading factor

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

NKX2-1

NK2 homeobox 1

NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149

NOTCH2

notch receptor 2

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

NR0B1

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

ClinVar Annotator: match by term: Hypospadias

HPO
ClinVar

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

NSD1

nuclear receptor binding SET domain protein 1

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

NSD2

nuclear receptor binding SET domain protein 2

NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207

NSUN2

NOP2/Sun RNA methyltransferase 2

NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291

OBSL1

obscurin like cytoskeletal adaptor 1

NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859

OGT

O-linked N-acetylglucosamine (GlcNAc) transferase

NCBI chr X:71,533,104...71,575,892
Ensembl chr X:71,533,087...71,575,892

ORC1

origin recognition complex subunit 1

NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423

ORC4

origin recognition complex subunit 4

NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604

ORC6

origin recognition complex subunit 6

NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394

OTUD5

OTU deubiquitinase 5

NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386

PACS1

phosphofurin acidic cluster sorting protein 1

ClinVar Annotator: match by term: Hypospadias

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

PALB2

partner and localizer of BRCA2

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

PAX6

paired box 6

NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961

PCNT

pericentrin

NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769

PDE4D

phosphodiesterase 4D

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

PDPN

podoplanin

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

PEX1

peroxisomal biogenesis factor 1

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

PEX10

peroxisomal biogenesis factor 10

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

PEX11B

peroxisomal biogenesis factor 11 beta

NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717

PEX12

peroxisomal biogenesis factor 12

NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863

PEX13

peroxisomal biogenesis factor 13

NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990

PEX14

peroxisomal biogenesis factor 14

NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758

PEX16

peroxisomal biogenesis factor 16

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

PEX19

peroxisomal biogenesis factor 19

NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348

PEX2

peroxisomal biogenesis factor 2

NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044

PEX26

peroxisomal biogenesis factor 26

NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396

PEX3

peroxisomal biogenesis factor 3

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

PEX5

peroxisomal biogenesis factor 5

NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574

PEX6

peroxisomal biogenesis factor 6

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

PIEZO2

piezo type mechanosensitive ion channel component 2

NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569

PIGG

phosphatidylinositol glycan anchor biosynthesis class G

NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

PITX2

paired like homeodomain 2

NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123

PLAG1

PLAG1 zinc finger

NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324

POLE

DNA polymerase epsilon, catalytic subunit

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

POLR3A

RNA polymerase III subunit A

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

POR

cytochrome p450 oxidoreductase

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

PPP1R12A

protein phosphatase 1 regulatory subunit 12A

NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460

PQBP1

polyglutamine binding protein 1

NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402

PRDM16

PR/SET domain 16

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

PRKACA

protein kinase cAMP-activated catalytic subunit alpha

NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084

PRKACB

protein kinase cAMP-activated catalytic subunit beta

NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

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

PRPS1

phosphoribosyl pyrophosphate synthetase 1

NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993

PSMD12

proteasome 26S subunit, non-ATPase 12

NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605

PSPH

phosphoserine phosphatase

NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604

PTDSS1

phosphatidylserine synthase 1

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

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

PUF60

poly(U) binding splicing factor 60

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

RAC1

Rac family small GTPase 1

NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967

RAD21

RAD21 cohesin complex component

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

RAD51

RAD51 recombinase

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

RAD51C

RAD51 paralog C

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

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

RBBP8

RB binding protein 8, endonuclease

NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488

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

RIPPLY2

ripply transcriptional repressor 2

NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515

RLIM

ring finger protein, LIM domain interacting

NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624

RNU12

RNA, U12 small nuclear

NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393

RPL10

ribosomal protein L10

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

RPL11

ribosomal protein L11

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

RPL5

ribosomal protein L5

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

RPS10

ribosomal protein S10

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS24

ribosomal protein S24

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

RPS7

ribosomal protein S7

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

RREB1

ras responsive element binding protein 1

NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980

RSPO1

R-spondin 1

NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892

RTTN

rotatin

NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726

SALL1

spalt like transcription factor 1

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

SAMD9

sterile alpha motif domain containing 9

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

SCUBE3

signal peptide, CUB domain and EGF like domain containing 3

NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079

SEC24C

SEC24 homolog C, COPII coat complex component

NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161

SETBP1

SET binding protein 1

NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510

SETD2

SET domain containing 2, histone lysine methyltransferase

NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113

SETD5

SET domain containing 5

NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240

SIAH1

siah E3 ubiquitin protein ligase 1

NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402

SIN3A

SIN3 transcription regulator family member A

NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842

SIX6

SIX homeobox 6

NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850

SKI

SKI proto-oncogene

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

SKIC3

SKI3 subunit of superkiller complex

NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050

SLC25A10

solute carrier family 25 member 10

NCBI chr17:81,712,284...81,721,012
Ensembl chr17:81,712,236...81,721,016

SLX4

SLX4 structure-specific endonuclease subunit

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

SMAD4

SMAD family member 4

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009

SMARCC2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2

NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567

SMARCD1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1

NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707

SMARCE1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654

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

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

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

SMG8

SMG8 nonsense mediated mRNA decay factor

NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239

SMS

spermine synthase

NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837

SND1

staphylococcal nuclease and tudor domain containing 1

ClinVar Annotator: match by term: Hypospadias

NCBI chr 7:127,652,194...128,092,593
Ensembl chr 7:127,652,194...128,092,609

SOX11

SRY-box transcription factor 11

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

SOX2

SRY-box transcription factor 2

NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436

SOX4

SRY-box transcription factor 4

NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619

SOX9

SRY-box transcription factor 9

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

SPEN

spen family transcriptional repressor

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

SPTBN1

spectrin beta, non-erythrocytic 1

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,317...54,671,446

SRCAP

Snf2 related CREBBP activator protein

NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409

SRD5A2

steroid 5 alpha-reductase 2

susceptibility

protein:missense mutations:cds:p.R227Q, p.F186L

RGD

PMID:10514539

RGD:1600059

NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938

SRY

sex determining region Y

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

SSR4

signal sequence receptor subunit 4

NCBI chr X:153,794,159...153,798,512
Ensembl chr X:153,793,516...153,798,499

STAR

steroidogenic acute regulatory protein

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

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045

SYNGAP1

synaptic Ras GTPase activating protein 1

NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689

TAPT1

transmembrane anterior posterior transformation 1

NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410

TBX1

T-box transcription factor 1

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TBX22

T-box transcription factor 22

NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774

TCF12

transcription factor 12

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

TFAP2A

transcription factor AP-2 alpha

NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659

THOC6

THO complex subunit 6

NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755

TMEM63A

transmembrane protein 63A

NCBI chr 1:225,840,556...225,882,380
Ensembl chr 1:225,845,536...225,882,380

TMEM70

transmembrane protein 70

NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783

TMEM94

transmembrane protein 94

NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452

TONSL

tonsoku like, DNA repair protein

NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

TRIM8

tripartite motif containing 8

NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,644,479...102,658,318

TSR2

TSR2 ribosome maturation factor

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

TTC8

tetratricopeptide repeat domain 8

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

TUBB

tubulin beta class I

NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538

UBA1

ubiquitin like modifier activating enzyme 1

NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128

UBE2A

ubiquitin conjugating enzyme E2 A

NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083

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

UBR1

ubiquitin protein ligase E3 component n-recognin 1

NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113

UFD1

ubiquitin recognition factor in ER associated degradation 1

NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202

USP9X

ubiquitin specific peptidase 9 X-linked

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

VAC14

VAC14 component of PIKFYVE complex

NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160

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  X:155,881,345...155,943,769

WASHC5

WASH complex subunit 5

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WDR35

WD repeat domain 35

NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105

WNT11

Wnt family member 11

ClinVar Annotator: match by term: Hypospadias

NCBI chr11:76,186,325...76,210,761
Ensembl chr11:76,186,325...76,210,736

WNT4

Wnt family member 4

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

WNT5A

Wnt family member 5A

NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539

WNT7A

Wnt family member 7A

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

WNT8A

Wnt family member 8A

ClinVar Annotator: match by term: Hypospadias

NCBI chr 5:138,077,367...138,092,365
Ensembl chr 5:138,083,990...138,092,365

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

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

ZEB2

zinc finger E-box binding homeobox 2

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

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

ZMIZ1

zinc finger MIZ-type containing 1

NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519

ZMPSTE24

zinc metallopeptidase STE24

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

ZMYM2

zinc finger MYM-type containing 2

NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829

ZNF699

zinc finger protein 699

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Megacystis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTG2

actin gamma 2, smooth muscle

ClinVar Annotator: match by term: Megacystis

HPO
ClinVar

PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 More...

NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865

AQP2

aquaporin 2

NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878

AVPR2

arginine vasopressin receptor 2

NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166

LMOD1

leiomodin 1

NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,588

leucine rich repeats and immunoglobulin like domains 2

NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260

MYH11

myosin heavy chain 11

NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028

MYL9

myosin light chain 9

NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447

MYLK

myosin light chain kinase

NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332

NKX2-1

NK2 homeobox 1

NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

Midshaft hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CYP11A1

cytochrome P450 family 11 subfamily A member 1

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

Multiple bladder diverticula

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EFEMP2

EGF containing fibulin extracellular matrix protein 2

NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592

FBLN5

fibulin 5

NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987

LTBP1

latent transforming growth factor beta binding protein 1

NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509

LTBP4

latent transforming growth factor beta binding protein 4

NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624

Neoplasm of the urethra

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FERMT1

FERM domain containing kindlin 1

NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214

Neurogenic bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACER3

alkaline ceramidase 3

NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797

ARNT2

aryl hydrocarbon receptor nuclear translocator 2

NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933

ATP13A2

ATPase cation transporting 13A2

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

ATXN3

ataxin 3

NCBI chr14:92,058,552...92,106,582
Ensembl chr14:92,044,496...92,106,621

CACNA1A

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Neurogenic bladder

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025

CEP85L

centrosomal protein 85 like

NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075

CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10

NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972

CHRNA3

cholinergic receptor nicotinic alpha 3 subunit

NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295

CISD2

CDGSH iron sulfur domain 2

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

CLCN6

chloride voltage-gated channel 6

PMID:25741868 PMID:33217309

ClinVar Annotator: match by term: Neurogenic bladder

ClinVar
HPO

NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079

COG5

component of oligomeric golgi complex 5

NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261

COG7

component of oligomeric golgi complex 7

NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189

COL6A2

collagen type VI alpha 2 chain

ClinVar Annotator: match by term: Neurogenic bladder

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848

EBF3

EBF transcription factor 3

ClinVar Annotator: match by term: Neurogenic bladder

PMID:28017373 PMID:32366537 PMID:33956416

NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053

ELOVL1

ELOVL fatty acid elongase 1

NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074

EN1

engrailed homeobox 1

NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648

EPHB4

EPH receptor B4

NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523

ERCC6

ERCC excision repair 6, chromatin remodeling factor

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

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

FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

FBXO7

F-box protein 7

NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829

FUZ

fuzzy planar cell polarity protein

NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376

GBE1

1,4-alpha-glucan branching enzyme 1

NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645

GJA1

gap junction protein alpha 1

NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727

GNB1

G protein subunit beta 1

NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292

HES7

hes family bHLH transcription factor 7

NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106

LIG3

DNA ligase 3

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

MACF1

microtubule actin crosslinking factor 1

NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177

MAP3K7

mitogen-activated protein kinase kinase kinase 7

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

MARS2

methionyl-tRNA synthetase 2, mitochondrial

NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395

MNX1

motor neuron and pancreas homeobox 1

NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663

MTFMT

mitochondrial methionyl-tRNA formyltransferase

NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639

NOTCH3

notch receptor 3

NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995

PEX3

peroxisomal biogenesis factor 3

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

PLP1

proteolipid protein 1

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

PPOX

protoporphyrinogen oxidase

NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013

RASA1

RAS p21 protein activator 1

NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931

SNCA

synuclein alpha

NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315

TBCD

tubulin folding cofactor D

NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914

TBCK

TBC1 domain containing kinase

NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683

TRAPPC12

trafficking protein particle complex subunit 12

NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094

VANGL1

VANGL planar cell polarity protein 1

NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224

VPS11

VPS11 core subunit of CORVET and HOPS complexes

NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972

WFS1

wolframin ER transmembrane glycoprotein

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

Nocturia

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CLCNKB

chloride voltage-gated channel Kb

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

DBH

dopamine beta-hydroxylase

NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329

PLA2G6

phospholipase A2 group VI

NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778

POLG

DNA polymerase gamma, catalytic subunit

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

POLG2

DNA polymerase gamma 2, accessory subunit

NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

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

SLC12A3

solute carrier family 12 member 3

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

SLC25A4

solute carrier family 25 member 4

NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382

TWNK

twinkle mtDNA helicase

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

Patent urachus

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MYRF

myelin regulatory factor

NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518

Penile hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EPG5

ectopic P-granules 5 autophagy tethering factor

NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784

HOXD13

homeobox D13

ClinVar Annotator: match by term: Penile hypospadias

PMID:22233338 PMID:25741868

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

LSM1

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Hypospadias, penile

PMID:25741868 PMID:31010896

NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730

mastermind like domain containing 1

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

MTM1

myotubularin 1

NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143

NIPBL

NIPBL cohesin loading factor

ClinVar Annotator: match by term: Hypospadias, penile

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

PEX1

peroxisomal biogenesis factor 1

ClinVar Annotator: match by term: Penile hypospadias

PMID:25741868 PMID:28492532

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

Penoscrotal hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ARCN1

archain 1

NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033

CDH11

cadherin 11

NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112

COLEC10

collectin subfamily member 10

NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455

DHCR7

7-dehydrocholesterol reductase

NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035

IGF2

insulin like growth factor 2

NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391

mastermind like domain containing 1

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

MTM1

myotubularin 1

NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143

MYRF

myelin regulatory factor

NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518

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

SRY

sex determining region Y

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

Perineal hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

androgen receptor

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

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19

NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774

GATA4

GATA binding protein 4

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

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035

SRD5A2

steroid 5 alpha-reductase 2

NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938

Pollakisuria

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALDH18A1

aldehyde dehydrogenase 18 family member A1

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

basonuclin 2

NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843

DYSF

dysferlin

NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763

FA2H

fatty acid 2-hydroxylase

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

FAR1

fatty acyl-CoA reductase 1

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346

FMR1

fragile X messenger ribonucleoprotein 1

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

HOGA1

4-hydroxy-2-oxoglutarate aldolase 1

NCBI chr10:97,584,389...97,612,802
Ensembl chr10:97,584,323...97,612,802

NBN

nibrin

NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228

NOTCH2NLC

notch 2 N-terminal like C

NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833

Rectourethral fistula

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MID1

midline 1

NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654

RNU12

RNA, U12 small nuclear

NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393

Scrotal hypospadias

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CYB5A

cytochrome b5 type A

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

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035

Spastic/hyperactive bladder

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DARS2

aspartyl-tRNA synthetase 2, mitochondrial

NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808

DNAJC13

DnaJ heat shock protein family (Hsp40) member C13

NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032

EIF4G1

eukaryotic translation initiation factor 4 gamma 1

NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358

GBA1

glucosylceramidase beta 1

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

GIGYF2

GRB10 interacting GYF protein 2

NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605

KIF5A

kinesin family member 5A

NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633

leucine rich repeats and immunoglobulin like domains 2

NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260

LRRK2

leucine rich repeat kinase 2

NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285

PLP1

proteolipid protein 1

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

SNCA

synuclein alpha

NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315

VPS35

VPS35 retromer complex component

NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518

Stress urinary incontinence

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NOTCH3

notch receptor 3

NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995

WASHC5

WASH complex subunit 5

ClinVar Annotator: match by term: Stress urinary incontinence

PMID:25741868 PMID:28492532

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

Urachal cyst

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

RAC2

Rac family small GTPase 2

NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594

XDH

xanthine dehydrogenase

ClinVar Annotator: match by term: Urachal cyst