imperforate anus - Ontology Report - Rat Genome Database

imperforate anus - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	imperforate anus	go back to main search page
Accession:	DOID:10488	browse the term
Definition:	A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Synonyms:	exact_synonym:	anal atresia; anal atresias; congenital atresia of anus; congenital or infantile occlusion of anus
	primary_id:	MESH:D001006
	alt_id:	MIM:207500; MIM:301800
	xref:	GARD:6769; ICD10CM:Q42.3; NCI:C84784
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants Sort by:
Rat (121) Mouse (122) Human (2220) Chinchilla (120) Bonobo (124) Dog (122) Squirrel (120) Pig (121) Green Monkey (124) Naked Mole-rat (118) All
Genes (1227) Variants (2082) Cell Lines (3)

imperforate anus

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234

G

G

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

P

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311

G

S

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293

G

D

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927

G

B

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

C

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449

G

R

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111

G

M

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

G

H

catenin beta 1

ClinVar Annotator: match by term: Imperforate anus

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

G

N

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004624754:16,335,466...16,371,313
Ensembl chrNW_004624754:16,335,626...16,368,926

G

G

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chr17:28,928,167...28,982,924
Ensembl chr17:28,927,967...28,982,483

G

P

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 7:38,224,023...38,263,429
Ensembl chr 7:38,224,332...38,263,425

G

S

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004936476:16,743,221...16,779,293
Ensembl chrNW_004936476:16,743,202...16,779,298

G

D

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chr12:11,674,408...11,714,578
Ensembl chr12:11,676,271...11,714,578

G

B

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 6:42,773,955...42,816,361
Ensembl chr 6:44,067,389...44,110,122

G

C

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004955437:9,109,997...9,145,181
Ensembl chrNW_004955437:9,109,889...9,147,526

G

R

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 9:21,933,699...21,977,145
Ensembl chr 9:14,436,111...14,479,548

G

M

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chr17:46,811,535...46,857,314
Ensembl chr17:46,811,498...46,857,314

G

H

cullin 9

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 6:43,182,196...43,224,587
Ensembl chr 6:43,182,184...43,224,587

G

N

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004624749:6,332,686...6,495,942
Ensembl chrNW_004624749:6,332,534...6,495,942

G

G

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chr14:5,391,416...5,579,163
Ensembl chr14:5,391,449...5,583,916

G

P

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410

G

S

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004936713:515,388...616,024
Ensembl chrNW_004936713:435,238...612,835

G

D

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chr10:41,088,020...41,276,801
Ensembl chr10:41,089,371...41,276,891

G

B

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

Ensembl chr2A:102,750,221...102,945,263

G

C

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004955470:7,334,050...7,470,751
Ensembl chrNW_004955470:7,333,351...7,470,751

G

R

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 9:49,696,573...49,822,353
Ensembl chr 9:42,200,278...42,326,698

G

M

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 1:39,939,806...40,065,470
Ensembl chr 1:39,940,073...40,065,470

G

H

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,690

G

N

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474

G

G

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677

G

P

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333

G

S

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195

G

D

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

G

B

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

C

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053

G

R

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387

G

M

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071

G

H

mediator complex subunit 12

ClinVar Annotator: match by term: Anal atresia

PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More...

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

G

N

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624811:3,453,218...3,862,970

G

G

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033

G

P

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906

G

S

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887

G

D

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145

G

B

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502

G

C

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688

G

R

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600

G

M

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996

G

H

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975

G

N

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690

G

G

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219

G

P

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481

G

S

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655

G

D

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728

G

B

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308

G

C

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053

G

R

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203

G

M

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983

G

H

roundabout guidance receptor 1

ClinVar Annotator: match by term: Imperforate anus

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

Anal Atresia, Hypospadias, and Penoscrotal Inversion

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

ATP binding cassette subfamily C member 4 (PEL blood group)

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:1,811,686...2,060,221
Ensembl chrNW_004624879:1,811,651...2,060,099

G

G

ATP binding cassette subfamily C member 4 (PEL blood group)

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:73,821,887...74,106,617
Ensembl chr 3:73,821,134...74,106,579

G

P

ATP binding cassette subfamily C member 4 (PEL blood group)

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:64,089,149...64,309,831

G

S

ATP binding cassette subfamily C member 4 (PEL blood group)

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:14,396,986...14,624,597
Ensembl chrNW_004936472:14,397,222...14,624,648

G

D

ATP binding cassette subfamily C member 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:45,767,033...46,013,577
Ensembl chr22:45,765,835...46,013,505

G

B

ATP binding cassette subfamily C member 4 (PEL blood group)

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058

G

C

ATP binding cassette subfamily C member 4 (PEL blood group)

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:14,700,808...14,927,944
Ensembl chrNW_004955404:14,700,808...14,928,617

G

R

ATP binding cassette subfamily C member 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:101,948,387...102,182,912
Ensembl chr15:95,542,315...95,774,283

G

M

ATP-binding cassette, sub-family C member 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:118,720,104...118,945,475
Ensembl chr14:118,720,104...118,943,631

G

H

ATP binding cassette subfamily C member 4 (PEL blood group)

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:95,019,835...95,301,451
Ensembl chr13:95,019,835...95,301,475

G

N

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:3,681,673...3,697,495
Ensembl chrNW_004624793:3,681,673...3,695,654

G

G

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:86,587,155...86,602,978
Ensembl chr 3:86,597,958...86,598,971

G

P

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:75,547,748...75,569,843
Ensembl chr11:75,547,747...75,570,263

G

S

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:3,845,934...3,858,465
Ensembl chrNW_004936472:3,846,629...3,847,642

G

D

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:56,989,767...57,010,684
Ensembl chr22:57,005,559...57,006,671

G

B

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:89,347,452...89,363,329
Ensembl chr13:108,496,283...108,497,296

G

C

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:3,587,277...3,605,649
Ensembl chrNW_004955404:3,587,285...3,605,649

G

R

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:86,203,851...86,218,843
Ensembl chr16:79,501,727...79,516,748

G

M

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:10,027,717...10,042,155
Ensembl chr 8:10,027,707...10,042,155

G

H

abhydrolase domain containing 13

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:108,218,392...108,234,243
Ensembl chr13:108,218,392...108,234,243

G

N

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,046,796...2,072,603
Ensembl chrNW_004624793:2,046,912...2,071,784

G

G

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:89,094,308...89,130,685
Ensembl chr 3:89,094,218...89,130,686

G

P

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:77,323,355...77,356,049
Ensembl chr11:77,323,358...77,356,112

G

S

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,025,701...2,055,956
Ensembl chrNW_004936472:2,025,695...2,056,126

G

D

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:59,059,329...59,092,225
Ensembl chr22:59,059,519...59,092,192

G

B

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:92,017,092...92,053,485
Ensembl chr13:111,130,933...111,177,018

G

C

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:1,928,285...1,954,193
Ensembl chrNW_004955404:1,928,307...1,954,193

G

R

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:84,566,021...84,591,849
Ensembl chr16:77,864,261...77,889,745

G

M

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,661,581...11,694,617
Ensembl chr 8:11,661,583...11,685,757

G

H

ankyrin repeat domain 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,878,540...110,915,069
Ensembl chr13:110,878,540...110,915,069

G

N

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:5,059,826...5,083,362
Ensembl chrNW_004624793:5,059,644...5,085,572

G

G

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:84,958,279...84,983,102

G

P

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:74,241,089...74,267,416
Ensembl chr11:74,239,419...74,267,379

G

S

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:5,105,836...5,131,294
Ensembl chrNW_004936472:5,105,269...5,134,313

G

D

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:55,616,498...55,640,157
Ensembl chr22:55,616,977...55,639,784

G

B

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:87,683,306...87,708,108
Ensembl chr13:106,823,229...106,847,933

G

C

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:4,962,000...4,980,226
Ensembl chrNW_004955404:4,962,000...4,980,226

G

R

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:87,455,097...87,479,148
Ensembl chr16:80,753,315...80,777,349

G

M

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:8,716,307...8,741,818
Ensembl chr 8:8,715,075...8,740,521

G

H

arginine and glutamate rich 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:106,541,673...106,568,137
Ensembl chr13:106,541,673...106,568,137

G

N

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:8,661,320...8,698,081
Ensembl chrNW_004624793:8,662,713...8,692,575

G

G

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,360,868...81,401,813
Ensembl chr 3:81,368,637...81,403,182

G

P

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:71,110,463...71,138,861
Ensembl chr11:71,110,857...71,138,863

G

S

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,237,680...8,273,335
Ensembl chrNW_004936472:8,239,064...8,267,493

G

D

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,296,126...52,335,744

G

B

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:83,959,365...84,002,223
Ensembl chr13:103,096,344...103,174,182

G

C

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,327,295...8,358,453
Ensembl chrNW_004955404:8,325,187...8,354,350

G

R

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 9:53,760,885...53,797,125
Ensembl chr 9:46,269,252...46,305,024

G

M

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 1:44,158,032...44,183,931
Ensembl chr 1:44,158,117...44,183,930

G

H

basic, immunoglobulin-like variable motif containing

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:102,799,119...102,841,533
Ensembl chr13:102,799,119...102,841,533

G

H

BIVM-ERCC5 readthrough

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994

G

N

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,126,304...2,148,619
Ensembl chrNW_004624793:2,130,608...2,148,519

G

G

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:88,871,338...88,929,454
Ensembl chr 3:88,871,460...88,929,436

G

P

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:77,231,865...77,269,936
Ensembl chr11:77,229,971...77,265,272

G

S

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,144,407...2,180,431
Ensembl chrNW_004936472:2,144,335...2,180,392

G

D

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:58,891,826...58,946,112
Ensembl chr22:58,902,293...58,947,558

G

B

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000

G

C

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:2,008,980...2,027,672
Ensembl chrNW_004955404:1,996,400...2,027,563

G

R

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:84,649,617...84,689,254
Ensembl chr16:77,950,008...77,987,772

G

M

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,564,017...11,600,781
Ensembl chr 8:11,563,977...11,600,783

G

H

cysteinyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603

G

G

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,291,027...81,321,907

G

P

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:71,047,611...71,069,998

G

S

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,305,760...8,337,456

G

D

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,228,429...52,257,920

G

B

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:83,891,331...83,921,047
Ensembl chr13:103,027,230...103,056,282

G

C

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,401,713...8,425,519

G

R

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 9:53,690,704...53,728,801
Ensembl chr 9:46,198,635...46,235,936

G

M

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 1:44,095,031...44,118,906
Ensembl chr 1:44,095,032...44,118,906

G

H

coiled-coil domain containing 168

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:102,729,367...102,759,072
Ensembl chr13:102,729,367...102,759,072

G

N

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:2,178,896...2,298,905
Ensembl chrNW_004624879:2,179,142...2,298,924

G

G

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:74,239,087...74,379,699
Ensembl chr 3:74,352,400...74,377,978

G

P

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:65,027,706...65,145,002
Ensembl chr11:65,121,607...65,145,072

G

S

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:14,205,311...14,308,932
Ensembl chrNW_004936472:14,207,681...14,308,932

G

D

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:46,098,671...46,225,239
Ensembl chr22:46,098,933...46,225,153

G

B

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:76,728,572...76,755,685
Ensembl chr13:95,763,980...95,909,161

G

C

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:14,483,217...14,597,912
Ensembl chrNW_004955404:14,483,217...14,597,938

G

R

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:102,269,858...102,361,589
Ensembl chr15:95,862,760...95,954,526

G

M

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:119,025,283...119,111,937
Ensembl chr14:119,025,320...119,112,901

G

H

claudin 10

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759

G

N

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:11,240,495...11,479,386
Ensembl chrNW_004624793:11,237,097...11,480,113

G

G

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:78,258,096...78,574,515

G

P

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,507,828...68,768,322
Ensembl chr11:68,507,877...68,767,546

G

S

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:10,666,345...10,919,694
Ensembl chrNW_004936472:10,686,927...10,919,702

G

D

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,608,997...49,893,766
Ensembl chr22:49,608,358...49,871,572

G

B

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:80,774,572...81,066,375
Ensembl chr13:99,912,773...100,195,417

G

C

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:10,813,161...11,016,687
Ensembl chrNW_004955404:10,814,307...11,034,467

G

R

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,690,283...105,912,347
Ensembl chr15:99,283,650...99,505,695

G

M

citrate lyase beta like

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,408,289...122,639,646
Ensembl chr14:122,419,116...122,639,646

G

H

citramalyl-CoA lyase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:99,606,690...99,909,444
Ensembl chr13:99,606,669...99,909,459

G

N

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817

G

G

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057

G

P

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322

G

S

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814

G

D

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

B

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

G

C

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074

G

R

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412

G

M

collagen, type IV, alpha 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826

G

H

collagen type IV alpha 1 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202

G

N

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,201,815...2,325,002
Ensembl chrNW_004624793:2,202,244...2,324,507

G

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:88,564,328...88,760,191
Ensembl chr 3:88,563,903...88,760,411

G

P

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614

G

S

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349

G

D

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297

G

B

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

G

C

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079

G

R

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839

G

M

collagen, type IV, alpha 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287

G

H

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209

G

G

D-amino acid oxidase activator

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

G

B

D-amino acid oxidase activator

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:86,607,991...86,631,776

G

H

D-amino acid oxidase activator

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:105,465,867...105,491,034
Ensembl chr13:105,465,867...105,491,034

G

H

DAOA antisense RNA 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:105,459,055...105,505,681
Ensembl chr13:105,459,055...105,505,681

G

N

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:1,241,593...1,346,765
Ensembl chrNW_004624879:1,241,910...1,279,444

G

G

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:73,246,161...73,315,574
Ensembl chr 3:73,274,621...73,313,905

G

P

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,869...63,678,344

G

S

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:15,074,947...15,110,427
Ensembl chrNW_004936472:15,074,633...15,110,534

G

D

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:45,271,709...45,305,272
Ensembl chr22:45,271,709...45,305,346

G

B

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:75,590,366...75,730,956
Ensembl chr13:94,773,794...94,816,083

G

C

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:15,359,402...15,395,556
Ensembl chrNW_004955404:15,359,402...15,395,535

G

R

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:101,469,159...101,508,029
Ensembl chr15:95,062,003...95,100,836

G

M

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:118,250,202...118,289,658
Ensembl chr14:118,250,202...118,289,656

G

H

dopachrome tautomerase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:94,436,811...94,549,406
Ensembl chr13:94,436,811...94,479,682

G

N

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:2,369,332...2,434,433
Ensembl chrNW_004624879:2,369,237...2,434,433

G

G

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:74,474,643...74,582,942
Ensembl chr 3:74,474,548...74,579,048

G

P

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:65,230,145...65,299,084
Ensembl chr11:65,230,162...65,303,834

G

S

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:14,055,548...14,126,173
Ensembl chrNW_004936472:14,055,532...14,126,211

G

D

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:46,323,263...46,402,240
Ensembl chr22:46,307,905...46,398,625

G

B

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:76,853,053...76,963,530
Ensembl chr13:96,033,605...96,114,165

G

C

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:14,361,540...14,412,533
Ensembl chrNW_004955404:14,360,832...14,412,533

G

R

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:102,432,667...102,475,643
Ensembl chr15:96,025,624...96,065,181

G

M

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:119,175,371...119,219,114
Ensembl chr14:119,175,388...119,219,109

G

H

DnaJ heat shock protein family (Hsp40) member C3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988

G

G

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:77,453,378...77,752,356
Ensembl chr 3:77,452,202...77,678,886

G

P

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:67,764,009...68,052,352
Ensembl chr11:67,764,011...68,053,042

G

S

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:11,461,452...11,634,519
Ensembl chrNW_004936472:11,424,345...11,633,386

G

D

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:48,880,335...49,159,395
Ensembl chr22:48,880,972...49,159,711

G

B

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:79,964,350...80,256,416
Ensembl chr13:99,106,971...99,325,589

G

C

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:11,542,304...11,760,975
Ensembl chrNW_004955404:11,542,325...11,760,975

G

R

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,018,341...105,289,799
Ensembl chr15:98,618,084...98,883,153

G

M

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:121,772,026...122,038,465
Ensembl chr14:121,779,458...122,035,249

G

H

dedicator of cytokinesis 9

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:98,793,429...99,088,619
Ensembl chr13:98,793,429...99,086,625

G

N

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:2,301,172...2,355,665
Ensembl chrNW_004624879:2,303,685...2,354,319

G

G

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:74,381,019...74,444,805
Ensembl chr 3:74,382,136...74,441,973

G

P

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:65,147,003...65,204,294
Ensembl chr11:65,147,004...65,204,299

G

S

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:14,141,502...14,205,543
Ensembl chrNW_004936472:14,143,797...14,207,982

G

D

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:46,227,012...46,281,224
Ensembl chr22:46,227,223...46,281,609

G

B

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:76,757,062...76,820,627
Ensembl chr13:95,913,144...95,972,799

G

C

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:14,428,026...14,481,106
Ensembl chrNW_004955404:14,428,945...14,483,961

G

R

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:102,363,392...102,417,085
Ensembl chr15:95,956,398...96,010,066

G

M

DAZ interacting protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:119,112,927...119,162,947
Ensembl chr14:119,112,932...119,162,872

G

H

DAZ interacting zinc finger protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706

G

N

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:5,089,675...5,130,022
Ensembl chrNW_004624793:5,089,639...5,130,503

G

G

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465

G

P

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354

G

S

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:5,138,751...5,181,630
Ensembl chrNW_004936472:5,138,745...5,181,668

G

D

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:55,567,992...55,609,210
Ensembl chr22:55,566,039...55,609,443

G

B

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548

G

C

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:5,000,906...5,030,068
Ensembl chrNW_004955404:5,000,906...5,030,126

G

R

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:87,485,215...87,529,224
Ensembl chr16:80,783,417...80,824,391

G

M

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242

G

H

ephrin B2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:106,489,745...106,535,662
Ensembl chr13:106,489,745...106,535,662

G

N

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346

G

G

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,406,103...81,441,422
Ensembl chr 3:81,405,872...81,436,040

G

P

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322

G

S

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,209,482...8,234,696
Ensembl chrNW_004936472:8,209,540...8,234,334

G

D

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,339,011...52,372,618

G

B

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182

G

C

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,294,506...8,321,505
Ensembl chrNW_004955404:8,294,346...8,321,112

G

R

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:46,309,389...46,354,472

G

M

excision repair cross-complementing rodent repair deficiency, complementation group 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420

G

H

ERCC excision repair 5, endonuclease

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

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

G

N

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:12,595,521...12,870,803
Ensembl chrNW_004624793:12,592,574...12,796,155

G

G

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:76,807,172...77,102,146
Ensembl chr 3:76,807,211...77,100,720

G

P

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:67,144,622...67,457,547
Ensembl chr11:67,144,645...67,457,548

G

S

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:11,891,234...12,100,202
Ensembl chrNW_004936472:11,887,767...12,100,242

G

D

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:48,284,961...48,575,007
Ensembl chr22:48,342,521...48,573,836

G

B

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:79,300,995...79,615,649
Ensembl chr13:98,522,235...98,761,085

G

C

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:12,050,225...12,316,842
Ensembl chrNW_004955404:12,051,591...12,317,035

G

R

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:104,531,196...104,770,148
Ensembl chr15:98,182,329...98,363,299

G

M

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:121,272,563...121,521,156
Ensembl chr14:121,272,612...121,521,156

G

H

FERM, ARH/RhoGEF and pleckstrin domain protein 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:98,142,589...98,455,176
Ensembl chr13:98,142,562...98,455,176

G

N

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:9,021,538...9,641,651
Ensembl chrNW_004624793:9,021,579...9,638,740

G

G

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:80,304,996...80,978,292
Ensembl chr 3:80,309,110...80,500,510

G

P

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192

G

S

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,601,968...9,233,704
Ensembl chrNW_004936472:8,602,365...9,227,600

G

D

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849

G

B

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:82,869,491...83,563,099
Ensembl chr13:102,016,568...102,696,330

G

C

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117

G

R

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:107,442,800...108,086,486
Ensembl chr15:101,045,036...101,679,900

G

M

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539

G

H

fibroblast growth factor 14

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457

G

N

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:10,655,447...10,691,334
Ensembl chrNW_004624793:10,677,662...10,690,034

G

G

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:79,139,506...79,213,496
Ensembl chr 3:79,157,780...79,158,241

G

P

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:69,287,685...69,349,540

G

S

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:10,127,305...10,167,543
Ensembl chrNW_004936472:10,127,470...10,166,552

G

D

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:50,429,066...50,471,624
Ensembl chr22:50,429,190...50,470,657

G

B

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:81,678,715...81,757,024
Ensembl chr13:100,839,483...100,839,944

G

C

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:10,280,013...10,316,531

G

R

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:106,375,924...106,406,649
Ensembl chr15:99,968,282...99,993,455

G

M

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:123,128,272...123,151,173
Ensembl chr14:123,053,635...123,151,169

G

H

gamma-glutamylamine cyclotransferase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:100,530,180...100,588,789
Ensembl chr13:100,530,164...100,589,528

G

N

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:97,125...1,196,747
Ensembl chrNW_004624879:97,257...1,192,604

G

G

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:72,075,622...73,242,678

G

P

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:62,436,143...63,560,908
Ensembl chr11:62,438,453...63,560,897

G

S

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:15,136,656...16,177,597
Ensembl chrNW_004936472:15,137,770...16,176,943

G

D

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:44,154,690...45,237,398
Ensembl chr22:44,154,944...45,233,549

G

B

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:74,408,999...75,588,065
Ensembl chr13:93,874,849...94,739,894

G

C

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:15,429,811...16,504,973
Ensembl chrNW_004955404:15,433,962...16,504,351

G

R

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:100,437,415...101,435,038
Ensembl chr15:94,029,884...95,024,006

G

M

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:117,162,332...118,216,941
Ensembl chr14:117,162,727...118,213,956

G

H

glypican 6

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020

G

N

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:11,781,250...11,785,952

G

G

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:77,911,752...77,919,717
Ensembl chr 3:77,911,915...77,912,910

G

P

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,187,402...68,191,622
Ensembl chr11:68,187,327...68,191,269

G

S

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:11,240,287...11,242,157
Ensembl chrNW_004936472:11,240,880...11,241,875

G

D

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,288,226...49,294,567
Ensembl chr22:49,288,343...49,289,338

G

B

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:80,423,534...80,427,604
Ensembl chr13:99,562,589...99,563,584

G

C

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:11,293,897...11,321,072
Ensembl chrNW_004955404:11,293,897...11,321,072

G

R

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,404,062...105,407,812
Ensembl chr15:98,997,259...99,001,470

G

M

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,148,846...122,153,300
Ensembl chr14:122,148,665...122,153,193

G

H

G protein-coupled receptor 18

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:99,254,739...99,258,379
Ensembl chr13:99,254,732...99,261,744

G

N

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:1,388,033...1,412,727
Ensembl chrNW_004624879:1,387,867...1,410,767

G

G

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:73,429,949...73,460,134
Ensembl chr 3:73,430,165...73,458,011

G

P

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:63,720,048...63,764,720
Ensembl chr11:63,720,095...63,751,684

G

S

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:14,963,022...14,989,709
Ensembl chrNW_004936472:14,959,862...14,989,709

G

D

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:45,402,127...45,434,693
Ensembl chr22:45,401,443...45,431,483

G

B

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:75,774,879...75,808,210
Ensembl chr13:94,930,349...94,957,032

G

C

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:15,250,532...15,275,381
Ensembl chrNW_004955404:15,250,532...15,275,392

G

R

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:101,602,870...101,635,556
Ensembl chr15:95,199,777...95,228,373

G

M

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:118,374,513...118,401,644
Ensembl chr14:118,374,570...118,400,673

G

H

G protein-coupled receptor 180

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:94,601,857...94,634,661
Ensembl chr13:94,601,857...94,634,661

G

G

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:77,952,689...77,966,317
Ensembl chr 3:77,953,212...77,954,297

G

P

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,231,851...68,248,627
Ensembl chr11:68,231,224...68,245,751

G

S

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:11,196,567...11,198,890
Ensembl chrNW_004936472:11,186,267...11,198,832

G

D

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,332,665...49,347,721
Ensembl chr22:49,333,188...49,347,593

G

B

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305

G

C

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:11,264,954...11,277,531
Ensembl chrNW_004955404:11,264,954...11,277,531

G

R

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,445,129...105,457,192
Ensembl chr15:99,036,367...99,050,559

G

M

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,189,743...122,202,605
Ensembl chr14:122,189,963...122,202,607

G

H

G protein-coupled receptor 183

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:99,294,539...99,307,399
Ensembl chr13:99,294,539...99,307,399

G

N

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:2,678,403...3,408,630
Ensembl chrNW_004624879:2,678,482...3,402,590

G

G

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:74,840,589...75,576,397

G

P

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:65,516,180...66,193,410
Ensembl chr11:65,516,097...66,187,242

G

S

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:13,157,669...13,811,747
Ensembl chrNW_004936472:13,163,842...13,811,708

G

D

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:47,257,641...47,265,143
Ensembl chr22:47,117,757...47,259,351

G

B

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:77,256,399...77,998,022
Ensembl chr13:96,414,409...97,148,398

G

C

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:13,461,906...14,129,089
Ensembl chrNW_004955404:13,468,128...14,128,707

G

R

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:102,688,420...103,407,725
Ensembl chr15:96,281,646...97,000,462

G

M

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:119,374,902...120,226,864
Ensembl chr14:119,375,753...120,107,227

G

H

heparan sulfate 6-O-sulfotransferase 3

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:96,090,107...96,839,562
Ensembl chr13:96,090,107...96,839,562

G

N

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,121,290...2,126,573
Ensembl chrNW_004624793:2,121,290...2,125,598

G

G

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:88,935,764...88,943,887
Ensembl chr 3:88,937,297...88,943,046

G

P

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:77,270,272...77,278,346
Ensembl chr11:77,270,320...77,277,068

G

S

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,132,991...2,140,343

G

D

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:58,952,526...58,958,063
Ensembl chr22:58,946,939...58,957,804

G

B

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691

G

C

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:1,998,665...1,999,615
Ensembl chrNW_004955404:1,998,912...1,999,613

G

R

inhibitor of growth family, member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:84,639,378...84,649,498
Ensembl chr16:77,937,279...77,946,264

G

M

inhibitor of growth family, member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,605,762...11,613,251
Ensembl chr 8:11,605,571...11,613,251

G

H

inhibitor of growth family member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,712,623...110,723,339
Ensembl chr13:110,712,736...110,723,339

G

N

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:12,971,397...13,004,126
Ensembl chrNW_004624793:12,969,459...13,004,139

G

G

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:76,644,113...76,690,718
Ensembl chr 3:76,644,131...76,692,146

G

P

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:67,019,299...67,059,375
Ensembl chr11:67,004,109...67,060,551

G

S

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:12,231,970...12,271,639
Ensembl chrNW_004936472:12,229,922...12,271,964

G

D

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:48,126,053...48,182,897
Ensembl chr22:48,136,242...48,180,495

G

B

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:79,115,320...79,185,598
Ensembl chr13:98,294,766...98,336,700

G

C

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:12,416,755...12,480,281
Ensembl chrNW_004955404:12,416,755...12,459,452

G

R

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:104,397,626...104,447,985
Ensembl chr15:98,005,299...98,041,126

G

M

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:121,134,271...121,185,451
Ensembl chr14:121,148,636...121,185,411

G

H

importin 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:97,953,675...98,024,296
Ensembl chr13:97,953,658...98,024,296

G

N

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,615,092...2,636,835
Ensembl chrNW_004624793:2,614,589...2,636,947

G

G

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:88,045,439...88,076,468

G

P

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881

G

S

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,772,187...2,796,398

G

D

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:58,197,016...58,229,026
Ensembl chr22:58,223,387...58,227,535

G

B

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:90,886,095...90,917,724

G

C

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:2,531,484...2,555,383
Ensembl chrNW_004955404:2,531,484...2,555,689

G

R

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:85,190,310...85,214,543
Ensembl chr16:78,485,045...78,512,482

G

M

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458

G

H

insulin receptor substrate 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583

G

N

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:9,645,076...9,878,788
Ensembl chrNW_004624793:9,645,861...9,878,634

G

G

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:80,045,404...80,303,978
Ensembl chr 3:80,045,577...80,302,006

G

P

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:70,042,051...70,246,974
Ensembl chr11:70,042,232...70,246,968

G

S

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:9,227,795...9,452,936
Ensembl chrNW_004936472:9,233,576...9,452,954

G

D

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:51,157,789...51,377,441
Ensembl chr22:51,158,169...51,380,430

G

B

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:82,609,493...82,877,474
Ensembl chr13:101,747,760...102,014,605

G

C

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:9,331,407...9,545,711
Ensembl chrNW_004955404:9,332,169...9,546,245

G

R

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:107,186,792...107,448,335
Ensembl chr15:100,780,184...101,041,733

G

M

integrin, beta-like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:123,897,331...124,215,173
Ensembl chr14:123,897,383...124,213,030

G

H

integrin subunit beta like 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:101,452,675...101,720,856
Ensembl chr13:101,452,593...101,720,856

G

N

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:3,699,394...3,706,591
Ensembl chrNW_004624793:3,699,506...3,706,073

G

G

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:86,576,200...86,587,097
Ensembl chr 3:86,577,304...86,580,039

G

P

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,036...75,547,716

G

S

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:3,861,833...3,867,943
Ensembl chrNW_004936472:3,861,866...3,867,933

G

D

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357

G

B

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555

G

C

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193

G

R

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:86,220,345...86,228,930
Ensembl chr16:79,518,312...79,527,040

G

M

ligase IV, DNA, ATP-dependent

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686

G

H

DNA ligase 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

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

G

H

long intergenic non-protein coding RNA 567

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,809,676...110,813,084
Ensembl chr13:110,809,676...110,813,084

G

N

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:3,768,073...3,921,251
Ensembl chrNW_004624879:3,768,084...3,922,407

G

G

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:75,936,438...76,108,163
Ensembl chr 3:75,987,751...76,109,519

G

P

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:66,481,923...66,641,653
Ensembl chr11:66,481,923...66,641,653

G

S

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:12,705,804...12,856,058
Ensembl chrNW_004936472:12,705,804...12,856,048

G

D

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:47,568,335...47,729,901
Ensembl chr22:47,619,002...47,727,550

G

B

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:78,301,339...78,555,615
Ensembl chr13:97,591,686...97,711,843

G

C

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:12,979,671...13,132,239
Ensembl chrNW_004955404:12,979,235...13,132,361

G

R

muscleblind-like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:103,792,134...103,949,827
Ensembl chr15:97,385,244...97,542,937

G

M

muscleblind like splicing factor 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:120,513,077...120,669,110
Ensembl chr14:120,513,081...120,669,109

G

H

muscleblind like splicing regulator 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:97,141,834...97,394,120
Ensembl chr13:97,221,434...97,394,120

G

N

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:8,772,999...8,782,049
Ensembl chrNW_004624793:8,774,561...8,780,792

G

G

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,240,899...81,251,111
Ensembl chr 3:81,241,412...81,250,502

G

P

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:71,008,854...71,021,640
Ensembl chr11:71,008,846...71,020,730

G

S

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,355,075...8,366,229
Ensembl chrNW_004936472:8,354,807...8,365,399

G

D

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,181,222...52,194,859
Ensembl chr22:52,182,115...52,190,163

G

B

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:83,845,572...83,855,215
Ensembl chr13:102,981,536...102,990,336

G

C

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,447,359...8,460,853
Ensembl chrNW_004955404:8,447,359...8,460,847

G

R

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 9:53,625,473...53,637,220
Ensembl chr 9:46,134,001...46,145,112

G

M

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 1:44,048,559...44,081,745
Ensembl chr 1:44,048,568...44,059,194

G

H

methyltransferase 21C, AARS1 lysine

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:102,685,747...102,704,300
Ensembl chr13:102,685,747...102,695,044

G

N

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,956,643...3,399,949

G

G

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:86,850,362...87,550,840

G

P

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:75,739,783...76,271,958

G

S

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:3,157,508...3,548,164
Ensembl chrNW_004936472:3,212,773...3,574,114

G

D

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:57,313,714...57,794,415
Ensembl chr22:57,198,283...57,648,949

G

B

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:89,754,451...90,338,658
Ensembl chr13:108,922,993...109,473,752

G

R

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:85,586,428...86,066,537
Ensembl chr16:78,884,406...79,248,388

G

M

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:10,203,911...10,684,742
Ensembl chr 8:10,203,911...10,684,742

G

H

myosin XVI

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:108,495,716...109,208,005
Ensembl chr13:108,596,152...109,208,005

G

N

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:9,929,980...10,248,107
Ensembl chrNW_004624793:9,915,273...10,249,563

G

G

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:79,663,714...80,010,361
Ensembl chr 3:79,663,725...79,992,503

G

P

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727

G

S

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:9,502,054...9,789,714
Ensembl chrNW_004936472:9,502,030...9,789,638

G

D

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:50,821,983...51,142,000
Ensembl chr22:50,823,478...51,141,644

G

B

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:82,215,094...82,573,501
Ensembl chr13:101,354,054...101,693,223

G

C

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:9,603,567...9,894,688
Ensembl chrNW_004955404:9,603,562...9,895,817

G

R

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:106,805,209...107,148,837
Ensembl chr15:100,398,615...100,741,001

G

M

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:123,514,046...123,864,846
Ensembl chr14:123,514,046...123,864,556

G

H

sodium leak channel, non-selective

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508

G

N

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:3,964,136...4,542,192
Ensembl chrNW_004624793:3,964,654...4,540,949

G

G

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:85,572,404...86,263,309

G

P

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:74,742,319...75,344,699
Ensembl chr11:74,743,587...75,344,229

G

S

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:4,075,926...4,623,726
Ensembl chrNW_004936472:4,076,633...4,621,946

G

D

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:56,134,925...56,757,072
Ensembl chr22:56,134,878...56,756,612

G

B

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:88,136,013...88,995,995
Ensembl chr13:107,443,343...108,133,895

G

C

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:3,860,933...4,443,068
Ensembl chrNW_004955404:3,861,460...4,441,184

G

R

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:86,415,540...86,938,150
Ensembl chr16:79,713,724...80,235,120

G

M

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:9,256,006...9,823,329
Ensembl chr 8:9,255,902...9,821,161

G

H

NALCN channel auxiliary factor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:107,163,510...107,867,496
Ensembl chr13:107,163,510...107,867,496

G

N

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,149,647...2,164,928
Ensembl chrNW_004624793:2,150,798...2,165,016

G

G

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:88,845,564...88,870,176
Ensembl chr 3:88,845,487...88,868,411

G

P

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:77,210,164...77,230,687
Ensembl chr11:77,210,228...77,230,680

G

S

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,182,444...2,200,341
Ensembl chrNW_004936472:2,181,650...2,200,499

G

D

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:58,889,324...58,901,346
Ensembl chr22:58,881,927...58,900,382

G

B

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:91,750,962...91,775,364
Ensembl chr13:110,867,144...110,891,404

G

C

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:2,028,560...2,049,638
Ensembl chrNW_004955404:2,029,539...2,047,211

G

R

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:84,689,776...84,706,256
Ensembl chr16:77,987,726...78,004,192

G

M

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,547,506...11,563,287
Ensembl chr 8:11,547,506...11,564,960

G

H

NAD(P)HX dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996

G

N

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:3,540,737...3,548,239
Ensembl chrNW_004624879:3,540,845...3,548,239

G

G

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:75,709,387...75,718,009
Ensembl chr 3:75,709,693...75,710,706

G

P

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:66,289,131...66,295,826

G

S

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:13,047,918...13,049,041
Ensembl chrNW_004936472:13,047,930...13,048,943

G

D

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:47,371,020...47,377,389
Ensembl chr22:47,371,381...47,372,394

G

B

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:78,145,794...78,154,555

G

C

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:13,337,607...13,344,789
Ensembl chrNW_004955404:13,337,607...13,344,789

G

R

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:103,551,338...103,573,611
Ensembl chr15:97,144,293...97,166,612

G

M

oxoglutarate (alpha-ketoglutarate) receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:120,256,997...120,279,847
Ensembl chr14:120,256,997...120,279,847

G

H

oxoglutarate receptor 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730

G

N

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:10,691,224...11,099,905
Ensembl chrNW_004624793:10,691,224...11,100,853

G

G

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:78,722,186...79,156,049
Ensembl chr 3:78,722,286...79,156,863

G

P

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,286,430

G

S

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:10,167,387...10,501,824
Ensembl chrNW_004936472:10,164,642...10,501,878

G

D

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,965,134...50,428,025
Ensembl chr22:50,023,369...50,428,027

G

B

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772

G

C

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496

G

R

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:106,034,586...106,374,908
Ensembl chr15:99,627,982...99,968,266

G

M

propionyl-Coenzyme A carboxylase, alpha polypeptide

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,721,822...123,127,372
Ensembl chr14:122,771,736...123,128,512

G

H

propionyl-CoA carboxylase subunit alpha

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437

G

N

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:8,698,481...8,711,151
Ensembl chrNW_004624793:8,698,617...8,711,241

G

G

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,338,288...81,360,736
Ensembl chr 3:81,331,614...81,360,706

G

P

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:71,095,116...71,110,490
Ensembl chr11:71,094,223...71,110,396

G

S

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,273,517...8,285,384
Ensembl chrNW_004936472:8,273,497...8,286,494

G

D

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,274,616...52,295,981
Ensembl chr22:52,146,466...52,372,304

G

B

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:83,944,645...83,959,313
Ensembl chr13:103,081,650...103,096,378

G

C

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,358,542...8,374,216
Ensembl chrNW_004955404:8,358,542...8,374,328

G

R

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 9:53,748,484...53,801,453
Ensembl chr 9:46,256,390...46,268,532

G

M

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 1:44,143,060...44,158,844
Ensembl chr 1:44,145,706...44,157,968

G

H

protein O-glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:102,784,281...102,798,976
Ensembl chr13:102,784,281...102,799,040

G

N

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:2,180,803...2,199,420
Ensembl chrNW_004624793:2,180,419...2,198,962

G

G

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:88,769,676...88,803,384
Ensembl chr 3:88,770,271...88,803,177

G

P

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:77,167,052...77,188,893
Ensembl chr11:77,167,059...77,188,898

G

S

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:2,234,826...2,264,613
Ensembl chrNW_004936472:2,234,873...2,264,622

G

D

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:58,825,147...58,853,921
Ensembl chr22:58,825,667...58,853,667

G

B

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:91,660,142...91,698,215
Ensembl chr13:110,778,119...110,815,408

G

C

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:2,087,580...2,088,545

G

R

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:84,721,427...84,745,610
Ensembl chr16:78,019,337...78,043,529

G

M

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:11,503,390...11,528,640
Ensembl chr 8:11,503,518...11,528,710

G

H

RAB20, member RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:110,523,066...110,561,722
Ensembl chr13:110,523,066...110,561,722

G

N

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:3,972,582...4,015,335

G

G

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:76,146,124...76,184,649
Ensembl chr 3:76,146,340...76,184,664

G

P

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:66,679,162...66,718,565
Ensembl chr11:66,679,253...66,720,045

G

S

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:12,634,563...12,671,656
Ensembl chrNW_004936472:12,634,445...12,671,662

G

D

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:47,777,621...47,814,061
Ensembl chr22:47,778,780...47,810,802

G

B

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:78,595,330...78,629,012
Ensembl chr13:97,751,799...97,785,194

G

C

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:12,897,518...12,936,964
Ensembl chrNW_004955404:12,897,240...12,936,964

G

R

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:104,003,744...104,004,234
Ensembl chr15:97,596,020...97,624,138

G

M

RAS related protein 2a

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:120,715,873...120,744,606
Ensembl chr14:120,715,856...120,744,606

G

H

RAP2A, member of RAS oncogene family

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:97,434,169...97,469,128
Ensembl chr13:97,434,169...97,469,128

G

G

ring finger protein 113B

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:76,839,455...76,840,747
Ensembl chr 3:76,839,519...76,840,532

G

B

ring finger protein 113B

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:79,334,230...79,335,713
Ensembl chr13:98,484,810...98,486,285

G

H

ring finger protein 113B

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:98,175,785...98,177,269
Ensembl chr13:98,175,785...98,177,269

G

N

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:8,452,536...8,468,835
Ensembl chrNW_004624793:8,452,727...8,468,661

G

G

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,608,394...81,630,170
Ensembl chr 3:81,607,276...81,629,719

G

P

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:71,328,801...71,348,779
Ensembl chr11:71,327,017...71,348,757

G

S

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,052,789...8,069,085
Ensembl chrNW_004936472:8,052,789...8,068,863

G

D

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,523,679...52,541,976
Ensembl chr22:52,523,568...52,541,976

G

B

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:84,200,209...84,224,164
Ensembl chr13:103,336,073...103,359,359

G

C

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,122,119...8,137,236
Ensembl chrNW_004955404:8,122,119...8,137,236

G

R

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:91,088,089...91,111,025
Ensembl chr16:84,374,862...84,409,475

G

M

solute carrier family 10, member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:5,133,219...5,155,287
Ensembl chr 8:5,133,219...5,155,351

G

H

solute carrier family 10 member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:103,043,998...103,066,417
Ensembl chr13:103,043,998...103,066,417

G

N

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:12,348,356...12,393,909
Ensembl chrNW_004624793:12,348,819...12,394,497

G

G

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:77,344,653...77,413,475
Ensembl chr 3:77,345,567...77,383,715

G

P

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:67,652,808...67,690,457
Ensembl chr11:67,652,193...67,710,933

G

S

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:11,669,206...11,716,303
Ensembl chrNW_004936472:11,669,206...11,716,303

G

D

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:48,777,627...48,827,533
Ensembl chr22:48,777,630...48,827,533

G

B

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:79,855,805...79,902,215
Ensembl chr13:98,998,894...99,065,008

G

C

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:11,799,370...11,856,854
Ensembl chrNW_004955404:11,798,927...11,857,982

G

R

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:104,944,461...104,991,316
Ensembl chr15:98,537,641...98,582,545

G

M

solute carrier family 15 (oligopeptide transporter), member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:121,697,033...121,742,666
Ensembl chr14:121,697,033...121,742,664

G

H

solute carrier family 15 member 1

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:98,683,801...98,752,672
Ensembl chr13:98,683,801...98,752,672

G

N

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:1,480,436...1,483,000
Ensembl chrNW_004624879:1,482,081...1,482,911

G

G

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:73,536,573...73,539,077
Ensembl chr 3:73,538,172...73,538,999

G

P

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:63,822,110...63,826,498
Ensembl chr11:63,825,637...63,826,467

G

D

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

G

B

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:75,872,786...75,886,125

G

C

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:15,181,866...15,184,317
Ensembl chrNW_004955404:15,181,880...15,182,753

G

R

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:101,699,580...101,703,175
Ensembl chr15:95,292,265...95,296,091

G

M

SRY (sex determining region Y)-box 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:118,470,645...118,474,442
Ensembl chr14:118,470,644...118,474,442

G

H

SRY-box transcription factor 21

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:94,709,622...94,712,545
Ensembl chr13:94,709,622...94,712,545

G

N

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:12,474,346...12,595,052
Ensembl chrNW_004624793:12,474,373...12,595,062

G

G

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:77,104,417...77,231,402
Ensembl chr 3:77,105,429...77,196,934

G

P

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:67,458,350...67,565,642
Ensembl chr11:67,458,351...67,634,349

G

S

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:11,788,439...11,888,703
Ensembl chrNW_004936472:11,833,646...11,888,705

G

D

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:48,578,037...48,651,028
Ensembl chr22:48,578,858...48,663,329

G

B

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:79,614,662...79,744,772
Ensembl chr13:98,764,900...98,837,807

G

C

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:11,943,308...12,049,688
Ensembl chrNW_004955404:11,996,837...12,049,688

G

R

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:104,770,556...104,866,524
Ensembl chr15:98,365,791...98,460,553

G

M

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:121,521,599...121,618,269
Ensembl chr14:121,523,755...121,617,423

G

H

serine/threonine kinase 24

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:98,445,185...98,577,107
Ensembl chr13:98,445,185...98,577,940

G

N

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:8,721,772...8,728,298
Ensembl chrNW_004624793:8,721,762...8,728,505

G

G

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,327,487...81,336,113
Ensembl chr 3:81,327,986...81,331,592

G

P

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:71,077,717...71,085,063
Ensembl chr11:71,077,728...71,084,646

G

S

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,294,024...8,298,834
Ensembl chrNW_004936472:8,294,400...8,300,967

G

D

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,260,841...52,267,711
Ensembl chr22:52,260,841...52,267,664

G

B

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:83,927,705...83,936,447
Ensembl chr13:103,063,419...103,071,173

G

C

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,390,635...8,394,761
Ensembl chrNW_004955404:8,390,625...8,396,625

G

R

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 9:53,735,512...53,744,672
Ensembl chr 9:46,242,748...46,252,249

G

M

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 1:44,125,773...44,141,650
Ensembl chr 1:44,125,773...44,141,601

G

H

testis expressed 30

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:102,765,888...102,773,786
Ensembl chr13:102,765,888...102,773,811

G

N

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:1,365,464...1,384,726
Ensembl chrNW_004624879:1,366,151...1,384,601

G

G

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:73,403,520...73,424,985
Ensembl chr 3:73,400,485...73,424,892

G

P

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:63,695,612...63,716,614
Ensembl chr11:63,695,638...63,716,568

G

S

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:14,993,579...15,016,270
Ensembl chrNW_004936472:14,993,710...15,014,408

G

D

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:45,384,119...45,400,128
Ensembl chr22:45,384,412...45,400,314

G

B

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:75,747,686...75,770,010
Ensembl chr13:94,903,511...94,925,637

G

C

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:15,279,956...15,298,295
Ensembl chrNW_004955404:15,279,866...15,298,295

G

R

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:101,581,765...101,602,779
Ensembl chr15:95,174,608...95,195,554

G

M

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:118,349,323...118,370,177
Ensembl chr14:118,349,323...118,370,167

G

H

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242

G

N

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:11,515,047...11,644,073
Ensembl chrNW_004624793:11,511,446...11,579,008

G

G

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:78,143,850...78,217,461
Ensembl chr 3:78,144,078...78,216,828

G

P

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,407,834...68,469,956
Ensembl chr11:68,404,975...68,469,953

G

S

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:10,946,263...11,006,311
Ensembl chrNW_004936472:10,945,906...11,006,324

G

D

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,515,350...49,578,519
Ensembl chr22:49,515,382...49,577,905

G

B

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456

G

C

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:11,071,716...11,128,758
Ensembl chrNW_004955404:11,069,843...11,129,056

G

R

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,606,082...105,660,715
Ensembl chr15:99,201,489...99,254,049

G

M

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,342,290...122,397,015
Ensembl chr14:122,344,450...122,397,016

G

H

transmembrane 9 superfamily member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:99,501,472...99,564,048
Ensembl chr13:99,446,311...99,564,048

G

N

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:10,587,703...10,640,634
Ensembl chrNW_004624793:10,588,037...10,641,260

G

G

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:79,228,673...79,299,249
Ensembl chr 3:79,228,571...79,293,006

G

P

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039

G

S

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:10,062,811...10,114,356
Ensembl chrNW_004936472:10,062,827...10,113,238

G

D

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:50,483,799...50,554,421
Ensembl chr22:50,485,190...50,555,587

G

B

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164

G

C

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:10,213,186...10,266,581
Ensembl chrNW_004955404:10,213,186...10,266,116

G

R

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:106,406,795...106,463,226
Ensembl chr15:100,000,152...100,056,543

G

M

transmembrane and tetratricopeptide repeat containing 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:123,156,383...123,220,697
Ensembl chr14:123,156,383...123,221,447

G

H

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093

G

N

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:3,629,425...3,664,258

G

G

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:86,637,988...86,675,774
Ensembl chr 3:86,638,302...86,675,772

G

P

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:75,599,296...75,633,044
Ensembl chr11:75,599,598...75,633,041

G

S

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:3,789,111...3,834,163
Ensembl chrNW_004936472:3,788,095...3,822,148

G

D

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:57,036,307...57,069,053
Ensembl chr22:57,036,292...57,068,320

G

B

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:89,399,044...89,438,837
Ensembl chr13:108,536,617...108,574,296

G

C

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:3,536,041...3,573,242
Ensembl chrNW_004955404:3,536,868...3,569,750

G

R

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr16:86,164,377...86,195,072
Ensembl chr16:79,462,402...79,492,693

G

M

tumor necrosis factor (ligand) superfamily, member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 8:10,056,637...10,086,000
Ensembl chr 8:10,056,467...10,089,072

G

H

TNF superfamily member 13b

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:108,269,629...108,308,484
Ensembl chr13:108,251,240...108,308,484

G

N

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:8,782,956...8,848,547
Ensembl chrNW_004624793:8,779,967...8,848,539

G

G

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:81,151,769...81,234,755
Ensembl chr 3:81,151,801...81,236,235

G

P

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:70,943,142...71,009,381
Ensembl chr11:70,943,141...71,009,627

G

S

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:8,370,607...8,438,376
Ensembl chrNW_004936472:8,369,736...8,438,412

G

D

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:52,105,821...52,176,213
Ensembl chr22:52,105,886...52,175,426

G

B

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:83,756,757...83,838,997
Ensembl chr13:102,892,037...102,974,974

G

C

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:8,465,877...8,528,372
Ensembl chrNW_004955404:8,463,715...8,528,784

G

R

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:46,046,632...46,128,157

G

M

tripeptidyl peptidase II

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 1:43,973,130...44,042,160
Ensembl chr 1:43,972,807...44,042,160

G

H

tripeptidyl peptidase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958

G

N

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:11,658,268...11,824,632
Ensembl chrNW_004624793:11,657,526...11,824,570

G

G

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:77,859,634...78,045,245
Ensembl chr 3:77,860,066...78,045,311

G

P

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,144,835...68,319,771
Ensembl chr11:68,145,101...68,319,939

G

S

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:11,118,227...11,278,636
Ensembl chrNW_004936472:11,118,218...11,277,301

G

D

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,246,210...49,425,611
Ensembl chr22:49,245,930...49,425,088

G

B

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:80,370,475...80,554,055
Ensembl chr13:99,509,508...99,692,537

G

C

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:11,205,972...11,357,370
Ensembl chrNW_004955404:11,205,585...11,357,370

G

R

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,366,776...105,514,435
Ensembl chr15:98,960,139...99,107,787

G

M

ubiquitin associated domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,115,970...122,258,447
Ensembl chr14:122,116,032...122,258,446

G

H

UBA domain containing 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504

G

N

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624879:2,449,128...2,642,884
Ensembl chrNW_004624879:2,450,316...2,642,954

G

G

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:74,584,872...74,806,927
Ensembl chr 3:74,588,049...74,806,818

G

P

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:65,307,208...65,476,791
Ensembl chr11:65,307,168...65,476,544

G

S

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:13,868,865...14,051,269
Ensembl chrNW_004936472:13,868,979...14,050,770

G

D

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:46,407,342...46,591,595
Ensembl chr22:46,309,326...46,591,803

G

B

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:76,970,139...77,219,241
Ensembl chr13:96,124,714...96,377,116

G

C

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:14,165,686...14,354,207
Ensembl chrNW_004955404:14,165,816...14,356,293

G

R

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:102,480,239...102,646,291
Ensembl chr15:96,074,564...96,237,806

G

M

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:119,219,177...119,337,208
Ensembl chr14:119,222,451...119,336,842

G

H

UDP-glucose glycoprotein glucosyltransferase 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:95,801,580...96,053,401
Ensembl chr13:95,801,580...96,053,482

G

N

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:11,162,835...11,167,497
Ensembl chrNW_004624793:11,163,916...11,167,457

G

G

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:78,631,556...78,637,422
Ensembl chr 3:78,631,530...78,636,548

G

P

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,840,802...68,845,441
Ensembl chr11:68,840,631...68,845,378

G

S

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:10,599,717...10,605,187
Ensembl chrNW_004936472:10,602,102...10,605,191

G

D

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,948,743...49,952,007
Ensembl chr22:49,948,778...49,950,055

G

B

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:81,151,669...81,156,648

G

C

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:10,731,987...10,735,599

G

R

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,982,711...105,988,167
Ensembl chr15:99,576,697...99,581,522

G

M

zinc finger protein of the cerebellum 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264

G

H

Zic family member 2

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765

G

N

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004624793:11,171,431...11,186,415
Ensembl chrNW_004624793:11,176,946...11,189,003

G

G

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr 3:78,611,133...78,629,616
Ensembl chr 3:78,615,177...78,621,446

G

P

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr11:68,821,733...68,830,472
Ensembl chr11:68,821,735...68,830,540

G

S

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004936472:10,615,843...10,623,221
Ensembl chrNW_004936472:10,616,122...10,622,338

G

D

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr22:49,929,198...49,938,002
Ensembl chr22:49,931,460...49,937,853

G

B

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:81,132,841...81,149,539

G

C

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chrNW_004955404:10,745,551...10,752,006
Ensembl chrNW_004955404:10,745,620...10,751,872

G

R

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr15:105,964,932...105,973,669
Ensembl chr15:99,560,323...99,567,035

G

M

zinc finger protein of the cerebellum 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr14:122,696,572...122,703,127
Ensembl chr14:122,694,207...122,703,089

G

H

Zic family member 5

ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion

NCBI chr13:99,962,964...99,971,909
Ensembl chr13:99,962,964...99,971,767

Burn-McKeown syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:191,927...225,321
Ensembl chrNW_004624806:195,608...216,587

G

G

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:140,780...169,416
Ensembl chr18:139,995...169,052

G

P

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288

G

S

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:124,590...145,944
Ensembl chrNW_004936616:123,758...146,254

G

D

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:600,804...635,013
Ensembl chr 1:602,264...635,348

G

B

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098

G

C

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:63,312,588...63,346,307
Ensembl chrNW_004955402:63,311,741...63,347,641

G

R

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484

G

M

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697

G

H

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,109,262...80,140,346
Ensembl chr18:80,109,262...80,147,523

G

N

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:1,038,093...1,346,070
Ensembl chrNW_004624806:1,037,622...1,345,721

G

G

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:832,908...1,115,758
Ensembl chr18:830,771...1,115,876

G

P

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769

G

S

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:604,132...846,645
Ensembl chrNW_004936616:603,588...846,640

G

D

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514

G

B

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106

G

C

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:62,231,875...62,537,311
Ensembl chrNW_004955402:62,231,875...62,537,311

G

R

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953

G

M

ATPase, class II, type 9B

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275

G

H

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:79,069,394...79,378,283
Ensembl chr18:79,069,285...79,378,287

G

N

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:621,087...720,044
Ensembl chrNW_004624806:621,804...719,942

G

G

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:479,476...549,546
Ensembl chr18:478,543...544,258

G

P

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678

G

S

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:369,306...407,083
Ensembl chrNW_004936616:369,893...407,093

G

D

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142

G

B

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573

G

C

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:62,817,822...62,914,250
Ensembl chrNW_004955402:62,817,974...62,914,276

G

R

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,129,243...76,193,404
Ensembl chr18:73,854,282...73,916,457

G

M

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910

G

H

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

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

G

N

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:3,331,025...3,347,774
Ensembl chrNW_004624806:3,334,325...3,347,087

G

G

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:2,719,736...2,739,018

G

P

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542

G

S

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:2,007,339...2,020,737
Ensembl chrNW_004936616:2,007,352...2,020,737

G

D

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:2,750,117...2,785,329
Ensembl chr 1:2,729,331...2,742,231
Ensembl chr 1:2,729,331...2,742,231

G

B

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752

G

C

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:60,449,660...60,559,549
Ensembl chrNW_004955402:60,546,186...60,559,298

G

R

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:78,046,803...78,062,359
Ensembl chr18:75,772,023...75,787,577

G

M

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902

G

H

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:77,249,848...77,277,900
Ensembl chr18:77,249,848...77,277,900

G

N

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:381,400...420,347

G

G

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:288,772...294,717
Ensembl chr18:288,789...294,367

G

P

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191

G

S

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:244,940...249,941
Ensembl chrNW_004936616:244,940...248,499

G

D

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200

G

B

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,608,483...73,615,823

G

R

heat shock factor binding protein 1-like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:75,957,266...75,963,024
Ensembl chr18:73,682,286...73,688,045

G

M

heat shock factor binding protein 1-like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317

G

H

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:79,964,643...79,970,822
Ensembl chr18:79,964,582...79,970,822

G

N

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:481,353...562,126
Ensembl chrNW_004624806:481,353...561,508

G

G

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:357,227...443,625
Ensembl chr18:357,515...397,183

G

P

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916

G

S

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:294,466...338,332
Ensembl chrNW_004936616:293,314...310,684

G

D

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:805,892...866,031

G

B

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,431,735...73,546,602

G

C

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:62,997,807...63,033,813

G

R

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,017,225...76,085,377
Ensembl chr18:73,743,074...73,808,723

G

M

potassium voltage-gated channel, subfamily G, member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469

G

H

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:79,797,938...79,900,100
Ensembl chr18:79,797,938...79,900,184

G

H

long intergenic non-protein coding RNA 683

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,619,777...76,623,559
Ensembl chr18:76,528,580...76,693,637

G

H

long intergenic non-protein coding RNA 1879

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,690,029...76,693,636
Ensembl chr18:76,528,580...76,693,637

G

H

ATAC-STARR-seq lymphoblastoid silent region 9585

ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:79,988,376...79,988,615

G

N

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:3,465,881...3,587,428
Ensembl chrNW_004624806:3,489,681...3,588,335

G

G

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046

G

P

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290

G

S

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:2,082,154...2,159,028
Ensembl chrNW_004936616:2,082,099...2,159,070

G

D

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860

G

B

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351

G

C

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406

G

R

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404

G

M

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762

G

H

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683

G

N

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:905,487...1,022,784
Ensembl chrNW_004624806:905,174...1,022,800

G

G

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100

G

P

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139

G

S

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:484,062...584,950
Ensembl chrNW_004936616:484,045...587,891

G

D

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588

G

B

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453

G

C

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457

G

R

nuclear factor of activated T-cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028

G

M

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286

G

H

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325

G

N

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:95,478...182,374
Ensembl chrNW_004624806:95,448...182,925

G

G

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:32,925...124,001

G

P

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663

G

S

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:50,504...115,679
Ensembl chrNW_004936616:50,498...115,613

G

D

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905

G

B

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659

G

C

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:63,374,837...63,459,327
Ensembl chrNW_004955402:63,374,837...63,459,333

G

R

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029

G

M

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854

G

H

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,157,232...80,247,514
Ensembl chr18:80,157,232...80,247,514

G

N

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:336,976...350,478
Ensembl chrNW_004624806:332,759...351,246

G

G

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:222,969...234,718
Ensembl chr18:223,214...234,696

G

P

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494

G

S

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:185,616...201,405
Ensembl chrNW_004936616:192,886...201,411

G

D

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:692,870...722,681

G

B

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864

G

C

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:63,213,097...63,224,252
Ensembl chrNW_004955402:63,213,081...63,230,907

G

R

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915

G

M

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873

G

H

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,034,434...80,050,651
Ensembl chr18:80,034,389...80,050,651

G

N

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:1,432,771...1,454,794
Ensembl chrNW_004624806:1,435,617...1,454,779

G

G

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:1,154,033...1,174,030
Ensembl chr18:1,156,502...1,173,946

G

P

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906

G

S

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:903,220...922,635
Ensembl chrNW_004936616:901,076...922,641

G

D

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326

G

B

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:72,381,249...72,403,789

G

C

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057

G

R

spalt-like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,680,997...76,700,905
Ensembl chr18:74,407,560...74,426,789

G

M

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986

G

H

spalt like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:78,979,818...78,998,969
Ensembl chr18:78,979,818...79,002,677

G

N

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:440,001...479,191
Ensembl chrNW_004624806:439,613...479,191

G

G

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:311,594...354,877
Ensembl chr18:312,237...353,058

G

P

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225

G

S

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:265,609...292,430
Ensembl chrNW_004936616:265,850...292,586

G

D

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373

G

B

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,549,273...73,596,658
Ensembl chr18:76,869,584...76,915,363

G

C

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:63,035,932...63,073,981
Ensembl chrNW_004955402:63,035,932...63,073,980

G

R

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676

G

M

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940

G

H

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:79,902,420...79,951,653
Ensembl chr18:79,902,420...79,951,657

G

N

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chrNW_004624806:367,668...385,946
Ensembl chrNW_004624806:367,286...385,946

G

G

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:270,392...286,243
Ensembl chr18:270,938...285,966

G

P

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177

G

S

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chrNW_004936616:220,255...232,042
Ensembl chrNW_004936616:220,274...234,870

G

D

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258

G

B

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428

G

C

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chrNW_004955402:63,153,274...63,166,208
Ensembl chrNW_004955402:63,153,052...63,166,199

G

R

thioredoxin-like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:

OMIM
ClinVar
CTD
RGD

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

RGD:11531484, RGD:155882456

NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893

G

M

thioredoxin-like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:

OMIM
ClinVar
CTD
RGD

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

RGD:11531484, RGD:155882456

NCBI chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956
Ensembl chr18:80,249,980...80,255,956

G

H

thioredoxin like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:

OMIM
ClinVar
CTD
RGD

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

RGD:11531484, RGD:155882456

NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949

G

R

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737

G

M

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008

G

R

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269

G

M

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439

G

N

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:3,609,783...3,750,471
Ensembl chrNW_004624806:3,611,795...3,731,918

G

G

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:3,002,133...3,173,924
Ensembl chr18:3,002,252...3,126,097

G

P

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129

G

S

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:2,163,000...2,251,306
Ensembl chrNW_004936616:2,163,063...2,243,069

G

D

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984

G

B

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956

G

C

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:60,185,687...60,315,589
Ensembl chrNW_004955402:60,185,646...60,315,584

G

H

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,822,557...76,972,901
Ensembl chr18:76,822,557...76,972,901

G

N

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004624806:4,103,811...4,223,294
Ensembl chrNW_004624806:4,153,663...4,213,110

G

G

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:3,449,624...3,588,105
Ensembl chr18:3,504,027...3,583,816

G

P

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719

G

S

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004936616:2,451,952...2,553,843
Ensembl chrNW_004936616:2,452,248...2,553,693

G

D

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201

G

B

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609

G

C

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chrNW_004955402:59,750,682...59,874,987
Ensembl chrNW_004955402:59,752,106...59,874,743

G

H

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,357,682...76,496,419
Ensembl chr18:76,357,682...76,495,242

FG syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome

NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844

G

G

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome

NCBI chr X:38,704,623...39,121,309

G

P

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome

NCBI chr X:37,166,973...37,535,723
Ensembl chr X:37,167,577...37,536,160

G

S

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome

NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492

G

D

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome

NCBI chr X:35,939,117...36,296,438
Ensembl chr X:35,940,647...36,297,014

G

B

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome

NCBI chr X:33,967,329...34,374,385
Ensembl chr X:41,659,295...42,066,570

G

C

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome

NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692

G

R

calcium/calmodulin dependent serine protein kinase

DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
ClinVar Annotator: match by term: FG syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25741868 PMID:19200522

NCBI chr X:11,572,328...11,915,831
Ensembl chr X:8,899,833...9,238,694

G

M

calcium/calmodulin dependent serine protein kinase

DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
ClinVar Annotator: match by term: FG syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25741868 PMID:19200522

NCBI chr X:13,383,319...13,713,020
Ensembl chr X:13,383,319...13,717,606

G

H

calcium/calmodulin dependent serine protein kinase

DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
ClinVar Annotator: match by term: FG syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25741868 PMID:19200522

NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554

G

N

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273

G

G

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chr X:128,657,580...128,683,812
Ensembl chr X:128,657,393...128,680,531

G

P

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chr X:124,889,934...124,915,000
Ensembl chr X:124,890,162...124,914,992

G

S

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201

G

D

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203

G

B

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chr X:143,799,088...143,825,282

G

C

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232

G

R

filamin A

CTD Direct Evidence: marker/mechanism

NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052

G

M

filamin, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426

G

H

filamin A

CTD Direct Evidence: marker/mechanism

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

G

H

BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599

ClinVar Annotator: match by term: FG syndrome
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome

PMID:9536098 PMID:17576681 PMID:20301719 PMID:25741868 PMID:28492532 More...

NCBI chr X:71,122,550...71,123,749

G

N

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474

G

G

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677

G

P

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333

G

S

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195

G

D

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

G

B

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

C

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053

G

R

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:p.G958E(human)
DNA:missense mutation:cds:2881C>T(p.R961W)(human)

CTD
ClinVar
RGD

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

RGD:12910948, RGD:12910952

NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387

G

M

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)

CTD
ClinVar
RGD

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

RGD:12910952, RGD:12910948

NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071

G

H

mediator complex subunit 12

DNA:missense mutation:cds:p.G958E(human)
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:2881C>T(p.R961W)(human)

ClinVar
CTD
RGD

PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More...

RGD:12910948, RGD:12910952

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

FG Syndrome 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

chromosome unknown CXorf65 homolog

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,400,238...1,402,502

G

G

chromosome unknown CXorf65 homolog

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,901,220...60,904,594
Ensembl chr X:60,901,587...60,904,160

G

C

chromosome unknown CXorf65 homolog

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,674,333...10,676,485
Ensembl chrNW_004955475:10,674,197...10,677,048

G

P

chromosome X CXorf65 homolog

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,139,975...57,143,070
Ensembl chr X:57,140,831...57,143,151

G

S

chromosome X CXorf65 homolog

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:491,580...493,455
Ensembl chrNW_004936762:491,580...493,455

G

D

chromosome X CXorf65 homolog

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,478,132...55,480,215
Ensembl chr X:55,478,164...55,480,029

G

B

chromosome X CXorf65 homolog

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,372,451...60,375,636
Ensembl chr X:70,430,424...70,432,508

G

H

chromosome X open reading frame 65

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,103,889...71,106,740
Ensembl chr X:71,103,889...71,106,788

G

N

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,390,899...1,399,745
Ensembl chrNW_004624903:1,391,910...1,399,949

G

G

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,893,711...60,901,134
Ensembl chr X:60,893,526...60,902,844

G

P

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,132,549...57,140,377
Ensembl chr X:57,132,548...57,140,356

G

S

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:495,271...501,278
Ensembl chrNW_004936762:493,910...501,531

G

D

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,469,738...55,477,699
Ensembl chr X:55,469,382...55,477,699

G

B

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,364,466...60,372,147
Ensembl chr X:70,422,504...70,429,971

G

C

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,666,024...10,673,717
Ensembl chrNW_004955475:10,665,987...10,674,110

G

R

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,425,218...70,432,120
Ensembl chr X:66,385,558...66,392,115

G

M

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,297,855...100,304,479
Ensembl chr X:100,298,134...100,304,479

G

H

forkhead box O4

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,095,851...71,103,532
Ensembl chr X:71,095,851...71,103,535

G

N

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,511,347...1,519,265
Ensembl chrNW_004624903:1,517,324...1,519,265

G

G

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:61,013,991...61,019,222
Ensembl chr X:61,017,716...61,018,567

G

P

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,241,990...57,249,496
Ensembl chr X:57,242,045...57,249,885

G

S

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898

G

D

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,565,995...55,575,332
Ensembl chr X:55,573,808...55,574,659

G

B

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,490,579...60,492,606
Ensembl chr X:70,547,110...70,547,961

G

C

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910

G

R

gap junction protein, beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,541,845...70,549,776
Ensembl chr X:66,501,820...66,509,925

G

M

gap junction protein, beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,419,982...100,429,235
Ensembl chr X:100,419,984...100,429,235

G

H

gap junction protein beta 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,215,239...71,225,516
Ensembl chr X:71,212,811...71,225,516

G

M

predicted gene 614

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,304,979...100,307,598
Ensembl chr X:100,304,982...100,307,598

G

N

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,402,586...1,406,554
Ensembl chrNW_004624903:1,402,481...1,406,600

G

G

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,905,011...60,915,723
Ensembl chr X:60,905,343...60,909,149

G

P

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,143,568...57,151,242
Ensembl chr X:57,143,570...57,147,256

G

S

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:487,414...491,028
Ensembl chrNW_004936762:487,380...491,044

G

D

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,480,846...55,488,485
Ensembl chr X:55,481,092...55,484,751

G

B

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,375,815...60,386,936
Ensembl chr X:70,433,360...70,437,590

G

C

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517

G

R

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,435,340...70,439,052
Ensembl chr X:66,392,542...66,399,823

G

M

interleukin 2 receptor, gamma chain

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,307,991...100,311,861
Ensembl chr X:100,307,984...100,311,861

G

H

interleukin 2 receptor subunit gamma

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108

G

N

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,583,796...1,588,778
Ensembl chrNW_004624903:1,584,519...1,588,617

G

G

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:61,112,400...61,117,566
Ensembl chr X:61,113,673...61,118,040

G

P

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,316,490...57,321,614
Ensembl chr X:57,316,471...57,325,096

G

S

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:318,055...322,358
Ensembl chrNW_004936762:318,055...321,843

G

D

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,632,566...55,652,801
Ensembl chr X:55,633,060...55,636,868

G

B

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,564,946...60,569,045
Ensembl chr X:70,620,025...70,624,138

G

C

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,854,148...10,858,802
Ensembl chrNW_004955475:10,854,270...10,858,636

G

R

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,612,118...70,617,158
Ensembl chr X:66,572,537...66,577,174

G

M

integrin beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,492,694...100,520,391
Ensembl chr X:100,492,694...100,497,147

G

H

integrin subunit beta 1 binding protein 2

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,301,750...71,305,371
Ensembl chr X:71,301,750...71,305,371

G

H

BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599

ClinVar Annotator: match by term: FG syndrome 1

PMID:20301719 PMID:25741868 PMID:28492532 PMID:33057194 PMID:34079076 More...

NCBI chr X:71,122,550...71,123,749

G

N

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474

G

G

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677

G

P

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333

G

S

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195

G

D

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chr X:55,487,629...55,508,941
Ensembl chr X:55,482,013...55,509,992

G

B

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

C

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053

G

R

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387

G

M

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071

G

H

mediator complex subunit 12

ClinVar Annotator: match by term: FG syndrome 1

PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More...

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

G

N

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,437,663...1,465,955
Ensembl chrNW_004624903:1,438,428...1,463,172

G

G

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,941,371...60,967,942
Ensembl chr X:60,941,654...60,967,936

G

P

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,174,506...57,204,770
Ensembl chr X:57,176,103...57,201,461

G

S

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:435,729...458,261
Ensembl chrNW_004936762:435,729...458,423

G

D

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,510,729...55,532,396
Ensembl chr X:55,513,626...55,531,371

G

B

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,413,098...60,439,359
Ensembl chr X:70,469,764...70,496,526

G

C

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857

G

R

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,469,251...70,497,380
Ensembl chr X:66,429,458...66,451,876

G

M

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,342,785...100,364,956
Ensembl chr X:100,342,774...100,369,569

G

H

neuroligin 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,144,841...71,175,307
Ensembl chr X:71,144,821...71,175,255

G

N

non-POU domain containing octamer binding

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985

G

G

non-POU domain containing octamer binding

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:61,082,923...61,110,895

G

S

non-POU domain containing octamer binding

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:322,413...343,126
Ensembl chrNW_004936762:321,280...341,537

G

D

non-POU domain containing octamer binding

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,618,032...55,632,237
Ensembl chr X:55,618,095...55,631,388

G

B

non-POU domain containing octamer binding

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,547,277...60,564,845
Ensembl chr X:70,602,456...70,619,956

G

C

non-POU domain containing octamer binding

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519

G

R

non-POU domain containing, octamer-binding

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,594,116...70,611,976
Ensembl chr X:66,554,098...66,571,952

G

M

non-POU-domain-containing, octamer binding protein

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,473,295...100,492,193
Ensembl chr X:100,472,924...100,492,197

G

H

non-POU domain containing octamer binding

ClinVar Annotator: match by term: FG syndrome 1

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

G

N

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,100,518...1,106,993
Ensembl chrNW_004624903:1,100,424...1,107,087

G

G

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,714,846...60,721,813
Ensembl chr X:60,714,896...60,719,594

G

P

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:56,937,081...56,942,331
Ensembl chr X:56,937,086...56,942,357

G

S

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:661,532...667,277
Ensembl chrNW_004936762:661,491...667,298

G

D

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,282,474...55,289,513

G

B

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,193,997...60,199,564
Ensembl chr X:70,253,441...70,258,991

G

C

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,457,859...10,463,828
Ensembl chrNW_004955475:10,457,787...10,464,514

G

R

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,250,089...70,256,610
Ensembl chr X:66,210,081...66,215,708

G

M

solute carrier family 7 (cationic amino acid transporter, y+ system), member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,122,752...100,134,058
Ensembl chr X:100,122,816...100,129,626

G

H

solute carrier family 7 member 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,925,579...70,931,096
Ensembl chr X:70,925,579...70,931,125

G

N

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,357,298...1,366,849
Ensembl chrNW_004624903:1,118,965...1,367,179

G

G

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,849,241...60,866,846

G

P

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,099,521...57,108,636
Ensembl chr X:57,089,136...57,108,750

G

S

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:523,641...534,646
Ensembl chrNW_004936762:523,564...542,757

G

D

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,441,271...55,450,767

G

B

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,327,484...60,336,682
Ensembl chr X:70,384,164...70,395,737

G

C

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,632,938...10,641,452
Ensembl chrNW_004955475:10,474,697...10,641,723

G

R

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,267,013...70,396,948
Ensembl chr X:66,227,053...66,356,950

G

M

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,132,973...100,266,185
Ensembl chr X:100,141,392...100,266,169

G

H

sorting nexin 12

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,059,247...71,073,426
Ensembl chr X:71,056,332...71,073,426

G

N

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,698,201...1,774,607

G

G

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:61,167,743...61,269,000
Ensembl chr X:61,167,589...61,268,839

G

P

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,382,211...57,466,700
Ensembl chr X:57,382,354...57,466,697

G

S

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:189,710...271,759

G

D

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,693,091...55,764,268
Ensembl chr X:55,693,194...55,763,683

G

B

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,630,137...60,729,904
Ensembl chr X:70,684,217...70,782,323

G

C

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724

G

R

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,680,901...70,756,535
Ensembl chr X:66,640,982...66,716,543

G

M

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,576,335...100,644,635
Ensembl chr X:100,576,279...100,644,640

G

H

TATA-box binding protein associated factor 1

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374

G

G

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,378,774...60,698,158

G

P

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:56,543,933...56,925,104
Ensembl chr X:56,544,560...56,925,779

G

S

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:681,962...969,749
Ensembl chrNW_004936762:681,130...969,455

G

D

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:54,958,568...55,268,720
Ensembl chr X:54,958,568...55,268,684

G

B

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:59,796,821...60,175,517
Ensembl chr X:69,877,751...70,233,320

G

C

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,057,708...10,432,087

G

R

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:69,973,012...70,236,544
Ensembl chr X:65,932,988...66,196,187

G

M

testis expressed gene 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:99,882,254...100,103,245
Ensembl chr X:99,882,254...100,103,273

G

H

testis expressed 11

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,511,227...70,908,711
Ensembl chr X:70,528,940...70,908,711

G

N

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004624903:1,532,324...1,548,784

G

G

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:61,035,332...61,050,757
Ensembl chr X:61,035,325...61,050,172

G

P

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:57,261,923...57,279,427
Ensembl chr X:57,261,924...57,278,495

G

S

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004936762:360,581...376,509
Ensembl chrNW_004936762:361,032...376,513

G

D

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:55,588,739...55,604,157
Ensembl chr X:55,590,006...55,603,487

G

B

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:60,503,245...60,518,830
Ensembl chr X:70,559,268...70,573,852

G

C

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chrNW_004955475:10,801,637...10,818,123
Ensembl chrNW_004955475:10,801,255...10,818,375

G

R

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:70,568,573...70,584,221
Ensembl chr X:66,528,585...66,544,782

G

M

zinc finger, MYM-type 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:100,447,990...100,464,986
Ensembl chr X:100,447,990...100,464,455

G

H

zinc finger MYM-type containing 3

ClinVar Annotator: match by term: FG syndrome 1

NCBI chr X:71,239,624...71,255,290
Ensembl chr X:71,239,624...71,255,146

FG Syndrome 2

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273

G

G

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chr X:128,657,580...128,683,812
Ensembl chr X:128,657,393...128,680,531

G

P

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chr X:124,889,934...124,915,000
Ensembl chr X:124,890,162...124,914,992

G

S

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201

G

D

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203

G

B

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chr X:143,799,088...143,825,282

G

C

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232

G

R

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052

G

M

filamin, alpha

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

NCBI chr X:73,267,067...73,293,787
Ensembl chr X:73,267,067...73,293,426

G

H

filamin A

ClinVar Annotator: match by term: FG syndrome 2

PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More...

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

G

H

Xq28 proximal FLNA-EMD recombination region

ClinVar Annotator: match by term: FG syndrome 2

PMID:25741868 PMID:28492532 PMID:37175682

NCBI chr X:154,335,912...154,349,572

FG Syndrome 4

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844

G

G

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chr X:38,704,623...39,121,309

G

P

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chr X:37,166,973...37,535,723
Ensembl chr X:37,167,577...37,536,160

G

S

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492

G

D

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chr X:35,939,117...36,296,438
Ensembl chr X:35,940,647...36,297,014

G

B

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chr X:33,967,329...34,374,385
Ensembl chr X:41,659,295...42,066,570

G

C

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692

G

R

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chr X:11,572,328...11,915,831
Ensembl chr X:8,899,833...9,238,694

G

M

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chr X:13,383,319...13,713,020
Ensembl chr X:13,383,319...13,717,606

G

H

calcium/calmodulin dependent serine protein kinase

ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4

PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More...

NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554

G

H

CASK antisense RNA 1

ClinVar Annotator: match by term: FG syndrome 4

PMID:19377476 PMID:20029458 PMID:25741868 PMID:28492532

NCBI chr X:41,517,762...41,522,336
Ensembl chr X:41,520,036...41,522,336

IVIC syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923

G

G

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321

G

P

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190

G

S

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chrNW_004936514:3,285,778...3,302,179
Ensembl chrNW_004936514:3,285,531...3,303,644

G

D

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287

G

B

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589

G

C

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187

G

R

spalt-like transcription factor 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

OMIM
CTD
ClinVar

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822

G

M

spalt like transcription factor 4

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

OMIM
CTD
ClinVar

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863

G

H

spalt like transcription factor 4

ClinVar Annotator: match by term: Oculootoradial syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders

OMIM
ClinVar
CTD

PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532

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

Johanson-Blizzard syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

H

ATAC-STARR-seq lymphoblastoid active region 9309

ClinVar Annotator: match by term: Johanson-Blizzard syndrome

NCBI chr15:43,105,857...43,106,136

G

N

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

NCBI chrNW_004624804:10,035,122...10,225,640
Ensembl chrNW_004624804:10,036,225...10,225,571

G

G

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

NCBI chr26:39,851,630...40,026,817

G

P

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302

G

S

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

NCBI chrNW_004936471:6,171,655...6,313,853
Ensembl chrNW_004936471:6,171,593...6,313,937

G

D

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

NCBI chr30:9,869,769...10,006,994
Ensembl chr30:9,870,021...10,006,947

G

B

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

NCBI chr15:21,899,611...22,064,606
Ensembl chr15:40,060,111...40,221,725

G

C

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

NCBI chrNW_004955416:9,571,628...9,731,551
Ensembl chrNW_004955416:9,572,171...9,731,453

G

R

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:243800
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)

OMIM
ClinVar
CTD
MouseDO
RGD

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

RGD:155882463, RGD:155882462

NCBI chr 3:128,265,160...128,377,830
Ensembl chr 3:107,811,392...107,922,204

G

M

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)
OMIM:243800

OMIM
ClinVar
CTD
MouseDO
RGD

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

RGD:155882463, RGD:155882462

NCBI chr 2:120,690,753...120,801,246
Ensembl chr 2:120,690,750...120,801,196

G

H

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:243800
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)

ClinVar
CTD
MouseDO
OMIM
RGD

PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More...

RGD:155882463, RGD:155882462

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

Oculootofacial Dysplasia

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:191,927...225,321
Ensembl chrNW_004624806:195,608...216,587

G

G

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:140,780...169,416
Ensembl chr18:139,995...169,052

G

P

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288

G

S

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:124,590...145,944
Ensembl chrNW_004936616:123,758...146,254

G

D

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:600,804...635,013
Ensembl chr 1:602,264...635,348

G

B

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098

G

C

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:63,312,588...63,346,307
Ensembl chrNW_004955402:63,311,741...63,347,641

G

R

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484

G

M

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697

G

H

ADNP homeobox 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,109,262...80,140,346
Ensembl chr18:80,109,262...80,147,523

G

N

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:1,038,093...1,346,070
Ensembl chrNW_004624806:1,037,622...1,345,721

G

G

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:832,908...1,115,758
Ensembl chr18:830,771...1,115,876

G

P

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769

G

S

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:604,132...846,645
Ensembl chrNW_004936616:603,588...846,640

G

D

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514

G

B

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106

G

C

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:62,231,875...62,537,311
Ensembl chrNW_004955402:62,231,875...62,537,311

G

R

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953

G

M

ATPase, class II, type 9B

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275

G

H

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:79,069,394...79,378,283
Ensembl chr18:79,069,285...79,378,287

G

N

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:621,087...720,044
Ensembl chrNW_004624806:621,804...719,942

G

G

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:479,476...549,546
Ensembl chr18:478,543...544,258

G

P

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678

G

S

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:369,306...407,083
Ensembl chrNW_004936616:369,893...407,093

G

D

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142

G

B

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573

G

C

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:62,817,822...62,914,250
Ensembl chrNW_004955402:62,817,974...62,914,276

G

R

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,129,243...76,193,404
Ensembl chr18:73,854,282...73,916,457

G

M

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910

G

H

CTD phosphatase subunit 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

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

G

N

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:3,331,025...3,347,774
Ensembl chrNW_004624806:3,334,325...3,347,087

G

G

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:2,719,736...2,739,018

G

P

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542

G

S

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:2,007,339...2,020,737
Ensembl chrNW_004936616:2,007,352...2,020,737

G

D

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:2,750,117...2,785,329
Ensembl chr 1:2,729,331...2,742,231
Ensembl chr 1:2,729,331...2,742,231

G

B

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752

G

C

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:60,449,660...60,559,549
Ensembl chrNW_004955402:60,546,186...60,559,298

G

R

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:78,046,803...78,062,359
Ensembl chr18:75,772,023...75,787,577

G

M

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902

G

H

galanin receptor 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:77,249,848...77,277,900
Ensembl chr18:77,249,848...77,277,900

G

N

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:381,400...420,347

G

G

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:288,772...294,717
Ensembl chr18:288,789...294,367

G

P

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191

G

S

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:244,940...249,941
Ensembl chrNW_004936616:244,940...248,499

G

D

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200

G

B

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,608,483...73,615,823

G

R

heat shock factor binding protein 1-like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:75,957,266...75,963,024
Ensembl chr18:73,682,286...73,688,045

G

M

heat shock factor binding protein 1-like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317

G

H

heat shock factor binding protein 1 like 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:79,964,643...79,970,822
Ensembl chr18:79,964,582...79,970,822

G

N

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:481,353...562,126
Ensembl chrNW_004624806:481,353...561,508

G

G

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:357,227...443,625
Ensembl chr18:357,515...397,183

G

P

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916

G

S

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:294,466...338,332
Ensembl chrNW_004936616:293,314...310,684

G

D

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:805,892...866,031

G

B

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,431,735...73,546,602

G

C

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:62,997,807...63,033,813

G

R

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,017,225...76,085,377
Ensembl chr18:73,743,074...73,808,723

G

M

potassium voltage-gated channel, subfamily G, member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469

G

H

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:79,797,938...79,900,100
Ensembl chr18:79,797,938...79,900,184

G

H

long intergenic non-protein coding RNA 683

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,619,777...76,623,559
Ensembl chr18:76,528,580...76,693,637

G

H

long intergenic non-protein coding RNA 1879

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,690,029...76,693,636
Ensembl chr18:76,528,580...76,693,637

G

H

ATAC-STARR-seq lymphoblastoid silent region 9585

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:79,988,376...79,988,615

G

N

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:3,465,881...3,587,428
Ensembl chrNW_004624806:3,489,681...3,588,335

G

G

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046

G

P

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290

G

S

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:2,082,154...2,159,028
Ensembl chrNW_004936616:2,082,099...2,159,070

G

D

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860

G

B

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351

G

C

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406

G

R

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:78,130,652...78,241,174
Ensembl chr18:75,855,878...75,966,404

G

M

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762

G

H

myelin basic protein

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683

G

N

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:905,487...1,022,784
Ensembl chrNW_004624806:905,174...1,022,800

G

G

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100

G

P

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139

G

S

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:484,062...584,950
Ensembl chrNW_004936616:484,045...587,891

G

D

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588

G

B

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453

G

C

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457

G

R

nuclear factor of activated T-cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028

G

M

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286

G

H

nuclear factor of activated T cells 1

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325

G

N

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:95,478...182,374
Ensembl chrNW_004624806:95,448...182,925

G

G

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:32,925...124,001

G

P

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663

G

S

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:50,504...115,679
Ensembl chrNW_004936616:50,498...115,613

G

D

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905

G

B

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659

G

C

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:63,374,837...63,459,327
Ensembl chrNW_004955402:63,374,837...63,459,333

G

R

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029

G

M

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854

G

H

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,157,232...80,247,514
Ensembl chr18:80,157,232...80,247,514

G

N

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:336,976...350,478
Ensembl chrNW_004624806:332,759...351,246

G

G

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:222,969...234,718
Ensembl chr18:223,214...234,696

G

P

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494

G

S

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:185,616...201,405
Ensembl chrNW_004936616:192,886...201,411

G

D

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:692,870...722,681

G

B

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864

G

C

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:63,213,097...63,224,252
Ensembl chrNW_004955402:63,213,081...63,230,907

G

R

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915

G

M

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873

G

H

ribosome binding factor A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,034,434...80,050,651
Ensembl chr18:80,034,389...80,050,651

G

N

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:1,432,771...1,454,794
Ensembl chrNW_004624806:1,435,617...1,454,779

G

G

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:1,154,033...1,174,030
Ensembl chr18:1,156,502...1,173,946

G

P

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906

G

S

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:903,220...922,635
Ensembl chrNW_004936616:901,076...922,641

G

D

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326

G

B

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:72,381,249...72,403,789

G

C

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057

G

R

spalt-like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,680,997...76,700,905
Ensembl chr18:74,407,560...74,426,789

G

M

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986

G

H

spalt like transcription factor 3

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:78,979,818...78,998,969
Ensembl chr18:78,979,818...79,002,677

G

N

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:440,001...479,191
Ensembl chrNW_004624806:439,613...479,191

G

G

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:311,594...354,877
Ensembl chr18:312,237...353,058

G

P

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225

G

S

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:265,609...292,430
Ensembl chrNW_004936616:265,850...292,586

G

D

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373

G

B

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,549,273...73,596,658
Ensembl chr18:76,869,584...76,915,363

G

C

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:63,035,932...63,073,981
Ensembl chrNW_004955402:63,035,932...63,073,980

G

R

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676

G

M

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940

G

H

solute carrier family 66 member 2

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:79,902,420...79,951,653
Ensembl chr18:79,902,420...79,951,657

G

N

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chrNW_004624806:367,668...385,946
Ensembl chrNW_004624806:367,286...385,946

G

G

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:270,392...286,243
Ensembl chr18:270,938...285,966

G

P

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177

G

S

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chrNW_004936616:220,255...232,042
Ensembl chrNW_004936616:220,274...234,870

G

D

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258

G

B

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428

G

C

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chrNW_004955402:63,153,274...63,166,208
Ensembl chrNW_004955402:63,153,052...63,166,199

G

R

thioredoxin-like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893

G

M

thioredoxin-like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956
Ensembl chr18:80,249,980...80,255,956

G

H

thioredoxin like 4A

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949

G

R

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737

G

M

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008

G

R

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269

G

M

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439

G

N

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:3,609,783...3,750,471
Ensembl chrNW_004624806:3,611,795...3,731,918

G

G

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:3,002,133...3,173,924
Ensembl chr18:3,002,252...3,126,097

G

P

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129

G

S

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:2,163,000...2,251,306
Ensembl chrNW_004936616:2,163,063...2,243,069

G

D

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984

G

B

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956

G

C

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:60,185,687...60,315,589
Ensembl chrNW_004955402:60,185,646...60,315,584

G

H

zinc finger protein 236

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,822,557...76,972,901
Ensembl chr18:76,822,557...76,972,901

G

N

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004624806:4,103,811...4,223,294
Ensembl chrNW_004624806:4,153,663...4,213,110

G

G

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:3,449,624...3,588,105
Ensembl chr18:3,504,027...3,583,816

G

P

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719

G

S

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004936616:2,451,952...2,553,843
Ensembl chrNW_004936616:2,452,248...2,553,693

G

D

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201

G

B

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609

G

C

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chrNW_004955402:59,750,682...59,874,987
Ensembl chrNW_004955402:59,752,106...59,874,743

G

H

zinc finger protein 516

ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA

NCBI chr18:76,357,682...76,496,419
Ensembl chr18:76,357,682...76,495,242

Townes-Brocks syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,336,395...6,391,149
Ensembl chrNW_004624757:6,338,006...6,389,032

G

G

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:36,086,680...36,122,021
Ensembl chr 5:36,065,319...36,113,921

G

P

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,521,503...34,586,384
Ensembl chr 6:34,519,180...34,585,779

G

S

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,368,069...3,393,306
Ensembl chrNW_004936475:3,340,800...3,394,698

G

D

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:65,003,891...65,034,812
Ensembl chr 2:65,006,038...65,034,777

G

B

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,507,836...30,581,068
Ensembl chr16:49,410,143...49,462,278

G

C

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,362,957...8,428,773
Ensembl chrNW_004955433:8,362,756...8,426,997

G

R

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:34,913,154...34,972,366
Ensembl chr19:18,740,875...18,776,311

G

M

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:88,998,818...89,056,593
Ensembl chr 8:88,999,031...89,056,590

G

H

adenylate cyclase 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,244,699...50,318,135
Ensembl chr16:50,246,137...50,318,135

G

N

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,294,559...6,335,401
Ensembl chrNW_004624757:6,294,415...6,335,285

G

G

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:36,114,951...36,168,786
Ensembl chr 5:36,112,289...36,168,728

G

P

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663

G

S

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,394,423...3,432,998
Ensembl chrNW_004936475:3,393,373...3,433,103

G

D

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799

G

B

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386

G

C

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,425,976...8,462,431
Ensembl chrNW_004955433:8,424,949...8,461,802

G

R

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:34,882,238...34,910,944
Ensembl chr19:18,709,022...18,737,494

G

M

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822

G

H

bromodomain containing 7

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,315,957...50,368,988
Ensembl chr16:50,313,487...50,368,988

G

N

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,601,395...6,615,307
Ensembl chrNW_004624757:6,599,592...6,615,699

G

G

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:35,827,194...35,838,823
Ensembl chr 5:35,827,245...35,840,575

G

P

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,775,444...34,788,308
Ensembl chr 6:34,775,446...34,788,252

G

S

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,163,275...3,176,210
Ensembl chrNW_004936475:3,162,995...3,176,669

G

D

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:65,236,030...65,252,169
Ensembl chr 2:65,237,353...65,252,043

G

B

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,288,552...30,300,444
Ensembl chr16:49,172,711...49,184,592

G

C

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,161,994...8,176,258

G

R

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667

G

M

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:88,845,344...88,861,825
Ensembl chr 8:88,845,397...88,861,738

G

H

CTD nuclear envelope phosphatase 1 regulatory subunit 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,025,225...50,037,081
Ensembl chr16:50,024,410...50,037,088

G

N

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:5,895,912...5,953,485

G

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:36,541,022...36,600,874
Ensembl chr 5:36,541,764...36,595,417

G

P

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264

G

S

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,750,917...3,812,118
Ensembl chrNW_004936475:3,750,882...3,812,118

G

D

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175

G

B

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629

G

C

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,788,867...8,845,925
Ensembl chrNW_004955433:8,788,655...8,845,925

G

R

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658

G

M

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573

G

H

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935

G

N

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624884:3,733,648...3,750,207
Ensembl chrNW_004624884:3,739,334...3,948,621

G

G

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:35,821,518...35,832,486
Ensembl chr24:35,821,990...35,832,712

G

P

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:187,719,391...187,729,568
Ensembl chr 1:187,719,290...187,729,422

G

S

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004936495:3,017,029...3,026,759
Ensembl chrNW_004936495:3,017,150...3,025,684

G

D

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449

G

B

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:39,231,910...39,242,353
Ensembl chr14:57,499,906...57,510,019

G

C

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004955466:12,367,760...12,374,141
Ensembl chrNW_004955466:12,367,775...12,373,036

G

R

dishevelled-binding antagonist of beta-catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:89,790,644...89,817,906

G

M

dishevelled-binding antagonist of beta-catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:71,356,658...71,366,881
Ensembl chr12:71,356,658...71,366,881

G

H

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

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

G

N

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,522,808...6,597,460
Ensembl chrNW_004624757:6,558,342...6,597,552

G

G

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:35,865,090...35,906,611
Ensembl chr 5:35,865,134...35,908,271

G

P

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,706,561...34,759,172
Ensembl chr 6:34,708,080...34,759,158

G

S

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,189,008...3,222,242
Ensembl chrNW_004936475:3,188,820...3,222,354

G

D

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:65,178,268...65,218,129
Ensembl chr 2:65,151,717...65,218,109

G

B

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,329,163...30,369,658
Ensembl chr16:49,212,645...49,251,043

G

C

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,183,701...8,224,117
Ensembl chrNW_004955433:8,183,395...8,224,117

G

R

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:35,065,915...35,103,779
Ensembl chr19:18,893,144...18,930,509

G

M

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655

G

H

HEAT repeat containing 3

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

G

N

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,035,356...6,134,477
Ensembl chrNW_004624757:6,046,361...6,134,470

G

G

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:36,350,071...36,433,936
Ensembl chr 5:36,407,285...36,432,995

G

P

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,223,888...34,319,584
Ensembl chr 6:34,223,884...34,319,528

G

S

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,559,754...3,655,216
Ensembl chrNW_004936475:3,579,501...3,655,205

G

D

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:64,720,059...64,806,868
Ensembl chr 2:64,722,243...64,807,875

G

B

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,811,342...30,912,346

G

C

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,622,568...8,705,356
Ensembl chrNW_004955433:8,622,568...8,699,737

G

R

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380

G

M

naked cuticle 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:89,247,961...89,321,515
Ensembl chr 8:89,247,982...89,321,512

G

H

NKD inhibitor of WNT signaling pathway 1

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,548,396...50,649,249
Ensembl chr16:50,548,396...50,649,249

G

N

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103

G

G

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499

G

P

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534

G

S

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982

G

D

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232

G

B

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

C

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710

G

R

nucleotide-binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177

G

M

nucleotide-binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102

G

H

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077

G

N

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617

G

G

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chr 5:36,928,711...36,944,158
Ensembl chr 5:36,927,990...36,943,630

G

P

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704

G

S

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413

G

D

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521

G

B

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819

G

C

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171

G

R

spalt-like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
OMIM:107480
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705

G

M

spalt like transcription factor 1

ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
OMIM:107480
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790

G

H

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: Townes syndrome
ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
OMIM:107480
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

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

G

N

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,011,750...6,019,378
Ensembl chrNW_004624757:6,014,238...6,019,378

G

G

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:36,467,839...36,481,083
Ensembl chr 5:36,469,366...36,480,514

G

P

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,176,753...34,188,233
Ensembl chr 6:34,176,748...34,191,570

G

D

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:64,681,329...64,689,825
Ensembl chr 2:64,681,303...64,692,486

G

B

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,928,545...30,944,509
Ensembl chr16:49,809,077...49,818,459

G

C

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,725,950...8,734,699
Ensembl chrNW_004955433:8,727,493...8,731,398

G

R

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:34,609,397...34,618,569
Ensembl chr19:18,435,935...18,445,107

G

M

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:89,353,189...89,362,769
Ensembl chr 8:89,353,191...89,362,756

G

H

sorting nexin 20

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,666,300...50,681,312
Ensembl chr16:50,666,300...50,681,353

G

N

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,415,226...6,491,539
Ensembl chrNW_004624757:6,422,421...6,491,434

G

G

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:35,947,275...36,029,565

G

P

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,603,157...34,669,779
Ensembl chr 6:34,605,529...34,669,278

G

S

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:3,266,763...3,328,209

G

D

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:65,068,088...65,147,853
Ensembl chr 2:65,071,111...65,147,896

G

B

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:30,415,668...30,494,758
Ensembl chr16:49,299,498...49,373,665

G

C

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:8,288,432...8,347,347
Ensembl chrNW_004955433:8,288,432...8,347,347

G

R

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:34,984,244...35,042,423
Ensembl chr19:18,807,525...18,869,537

G

M

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:88,925,229...88,989,942
Ensembl chr 8:88,925,837...88,986,355

G

H

terminal nucleotidyltransferase 4B

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:50,152,911...50,235,310
Ensembl chr16:50,152,911...50,235,310

G

R

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr19:35,282,149...35,580,775
Ensembl chr19:19,110,238...19,407,373

G

M

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 8:88,388,438...88,688,665
Ensembl chr 8:88,388,438...88,686,223

G

N

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004624757:6,742,289...7,060,907
Ensembl chrNW_004624757:6,742,132...7,061,058

G

G

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 5:35,281,679...35,657,045
Ensembl chr 5:35,278,652...35,621,956

G

P

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 6:34,929,286...35,299,695
Ensembl chr 6:34,932,597...35,299,688

G

S

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004936475:2,699,722...2,956,734
Ensembl chrNW_004936475:2,699,702...3,010,912

G

D

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr 2:65,512,342...65,778,410
Ensembl chr 2:65,438,842...65,778,407

G

B

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:29,748,405...30,118,999
Ensembl chr16:48,639,118...48,969,727

G

C

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chrNW_004955433:7,700,965...8,018,437
Ensembl chrNW_004955433:7,700,734...8,009,451

G

H

zinc finger protein 423

ClinVar Annotator: match by term: Townes syndrome

PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More...

NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919

Townes-Brocks Syndrome 2

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chrNW_004624884:3,733,648...3,750,207
Ensembl chrNW_004624884:3,739,334...3,948,621

G

G

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chr24:35,821,518...35,832,486
Ensembl chr24:35,821,990...35,832,712

G

P

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chr 1:187,719,391...187,729,568
Ensembl chr 1:187,719,290...187,729,422

G

S

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chrNW_004936495:3,017,029...3,026,759
Ensembl chrNW_004936495:3,017,150...3,025,684

G

D

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449

G

B

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chr14:39,231,910...39,242,353
Ensembl chr14:57,499,906...57,510,019

G

C

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chrNW_004955466:12,367,760...12,374,141
Ensembl chrNW_004955466:12,367,775...12,373,036

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R

dishevelled-binding antagonist of beta-catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:89,790,644...89,817,906

G

M

dishevelled-binding antagonist of beta-catenin 1

ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chr12:71,356,658...71,366,881
Ensembl chr12:71,356,658...71,366,881

G

H

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: Townes-Brocks syndrome 2
ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

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

G

H

ATAC-STARR-seq lymphoblastoid silent region 5801

ClinVar Annotator: match by term: DACT1-related condition

PMID:25741868 PMID:28492532

NCBI chr14:58,637,753...58,638,462

Townes-Brocks-Branchiootorenal-Like Syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617

G

G

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chr 5:36,928,711...36,944,158
Ensembl chr 5:36,927,990...36,943,630

G

P

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704

G

S

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413

G

D

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521

G

B

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819

G

C

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171

G

R

spalt-like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705

G

M

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790

G

H

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

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

VACTERL association

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chrNW_004624764:2,350,780...2,358,514
Ensembl chrNW_004624764:2,350,780...2,358,495

G

G

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chr20:116,067,791...116,073,844
Ensembl chr20:116,068,092...116,076,905

G

P

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chr 6:75,345,153...75,350,544
Ensembl chr 6:75,345,259...75,349,943

G

S

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chrNW_004936474:3,725,871...3,730,634
Ensembl chrNW_004936474:3,725,865...3,730,677

G

D

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chr 2:81,468,095...81,473,646
Ensembl chr 2:81,469,802...81,473,947

G

B

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chr 1:15,368,318...15,373,815
Ensembl chr 1:16,362,655...16,368,063

G

C

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chrNW_004955527:2,060,063...2,064,152
Ensembl chrNW_004955527:2,060,063...2,064,152

G

R

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chr 5:158,798,503...158,799,451
Ensembl chr 5:153,515,376...153,522,508

G

M

ciliogenesis and planar polarity effector 2

OMIM:192350 | OMIM:276950

NCBI chr 4:140,941,249...140,947,425
Ensembl chr 4:140,941,267...140,954,067

G

H

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chr 1:16,231,692...16,237,183
Ensembl chr 1:16,231,692...16,237,183

G

N

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072

G

G

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581

G

P

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188

G

S

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825

G

D

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334

G

B

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194

G

C

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468

G

R

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183

G

M

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446

G

H

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863

G

N

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chrNW_004624833:3,603,712...3,692,540
Ensembl chrNW_004624833:3,603,383...3,663,572

G

G

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr14:48,725,447...48,803,892
Ensembl chr14:48,725,541...48,805,356

G

P

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942

G

S

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976

G

D

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482

G

B

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496

G

C

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180

G

R

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255

G

M

Fanconi anemia, complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876

G

H

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

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

G

N

fibronectin 1

protein:increased expression:embryo

NCBI chrNW_004624765:707,872...775,056
Ensembl chrNW_004624765:707,755...775,056

G

G

fibronectin 1

protein:increased expression:embryo

NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633

G

P

fibronectin 1

protein:increased expression:embryo

NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,043

G

S

fibronectin 1

protein:increased expression:embryo

NCBI chrNW_004936586:1,708,803...1,773,372
Ensembl chrNW_004936586:1,708,684...1,773,383

G

D

fibronectin 1

protein:increased expression:embryo

NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123

G

B

fibronectin 1

protein:increased expression:embryo

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

C

fibronectin 1

protein:increased expression:embryo

NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975

G

R

fibronectin 1

protein:increased expression:embryo

RGD

NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678

G

M

fibronectin 1

protein:increased expression:embryo

RGD

NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359

G

H

fibronectin 1

protein:increased expression:embryo

RGD

NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073

G

N

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chrNW_004624746:2,599,211...2,603,031
Ensembl chrNW_004624746:2,599,106...2,603,336

G

G

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661

G

P

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659

G

S

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chrNW_004943883:4...1,756

G

D

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935

G

B

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949

G

C

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590

G

R

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr19:66,062,635...66,066,427
Ensembl chr19:49,153,699...49,157,738

G

M

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883

G

H

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

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

G

N

GLI family zinc finger 2

NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452

G

G

GLI family zinc finger 2

NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115

G

P

GLI family zinc finger 2

NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306

G

S

GLI family zinc finger 2

NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213

G

D

GLI family zinc finger 2

NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658

G

B

GLI family zinc finger 2

NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442

G

C

GLI family zinc finger 2

NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499

G

R

GLI family zinc finger 2

RGD

NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574

G

M

GLI-Kruppel family member GLI2

RGD

NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349

G

H

GLI family zinc finger 2

RGD

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

G

N

GLI family zinc finger 3

NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900

G

G

GLI family zinc finger 3

NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238

G

P

GLI family zinc finger 3

NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900

G

S

GLI family zinc finger 3

NCBI chrNW_004936478:17,129,922...17,403,630
Ensembl chrNW_004936478:17,126,911...17,403,011

G

D

GLI family zinc finger 3

NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132

G

B

GLI family zinc finger 3

NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865

G

C

GLI family zinc finger 3

NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918

G

R

GLI family zinc finger 3

RGD

NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712

G

M

GLI-Kruppel family member GLI3

RGD

NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611

G

H

GLI family zinc finger 3

RGD

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

G

N

homeobox D13

ClinVar Annotator: match by term: VACTERL association

NCBI chrNW_004624787:13,233,932...13,237,210
Ensembl chrNW_004624787:13,233,932...13,238,503

G

G

homeobox D13

ClinVar Annotator: match by term: VACTERL association

NCBI chr10:61,662,670...61,670,955
Ensembl chr10:61,667,880...61,669,743

G

P

homeobox D13

ClinVar Annotator: match by term: VACTERL association

NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944

G

S

homeobox D13

ClinVar Annotator: match by term: VACTERL association

NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651

G

D

homeobox D13

ClinVar Annotator: match by term: VACTERL association

NCBI chr36:19,901,184...19,903,837

G

B

homeobox D13

ClinVar Annotator: match by term: VACTERL association

NCBI chr2B:63,372,517...63,375,731

G

C

homeobox D13

ClinVar Annotator: match by term: VACTERL association

NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579

G

R

homeo box D13

ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism

NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:59,570,646...59,573,963

G

M

homeobox D13

ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism

NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943

G

H

homeobox D13

ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism

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

G

N

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933

G

G

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chr14:80,130,436...80,171,259

G

P

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970

G

S

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160

G

D

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796

G

B

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406

G

C

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026

G

R

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860

G

M

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460

G

H

intraflagellar transport 172

OMIM:192350 | OMIM:276950

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

G

S

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321

G

N

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chrNW_004624772:15,572,350...15,726,312
Ensembl chrNW_004624772:15,571,998...15,726,426

G

G

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

G

P

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195

G

D

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857

G

B

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

C

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173

G

R

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:185,610,589...185,744,088

G

M

notch 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677

G

H

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

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

G

N

proprotein convertase subtilisin/kexin type 5

DNA:mutation:exon:p.C470R(mouse)
OMIM:192350 | OMIM:276950
CTD Direct Evidence: marker/mechanism

RGD
MouseDO
CTD

NCBI chrNW_004624811:3,453,218...3,862,970

G

G

proprotein convertase subtilisin/kexin type 5

DNA:mutation:exon:p.C470R(mouse)
OMIM:192350 | OMIM:276950
CTD Direct Evidence: marker/mechanism

RGD
MouseDO
CTD

NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033

G

P

proprotein convertase subtilisin/kexin type 5

DNA:mutation:exon:p.C470R(mouse)
OMIM:192350 | OMIM:276950
CTD Direct Evidence: marker/mechanism

RGD
MouseDO
CTD

NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906

G

S

proprotein convertase subtilisin/kexin type 5

DNA:mutation:exon:p.C470R(mouse)
OMIM:192350 | OMIM:276950
CTD Direct Evidence: marker/mechanism

RGD
MouseDO
CTD

NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887

G

D

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)

CTD
MouseDO
RGD

NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145

G

B

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)

CTD
MouseDO
RGD

NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502

G

C

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)

CTD
MouseDO
RGD

NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688

G

R

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)

CTD
MouseDO
RGD

PMID:18519639 PMID:18519639

NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600

G

M

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)

CTD
MouseDO
RGD

PMID:18519639 PMID:18519639

NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996

G

H

proprotein convertase subtilisin/kexin type 5

DNA:mutation:exon:p.C470R(mouse)
OMIM:192350 | OMIM:276950
CTD Direct Evidence: marker/mechanism

MouseDO
CTD
RGD

PMID:18519639 PMID:18519639

NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975

G

N

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chrNW_004624771:449,761...490,372
Ensembl chrNW_004624771:449,992...489,693

G

G

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr25:49,180,365...49,223,814
Ensembl chr25:49,181,365...49,223,741

G

P

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr 9:121,779,072...121,822,829
Ensembl chr 9:121,779,792...121,822,825

G

S

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chrNW_004936481:8,975,818...9,013,684
Ensembl chrNW_004936481:8,975,790...9,013,723

G

D

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr 7:13,718,799...13,754,115
Ensembl chr 7:13,718,799...13,754,114

G

B

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr 1:155,641,793...155,687,231
Ensembl chr 1:159,313,245...159,358,672

G

C

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chrNW_004955406:19,363,938...19,402,134

G

R

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr13:70,500,060...70,537,711
Ensembl chr13:67,949,780...67,987,459

G

M

quiescin Q6 sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr 1:155,653,901...155,688,645
Ensembl chr 1:155,651,775...155,688,635

G

H

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr 1:180,154,869...180,204,030
Ensembl chr 1:180,154,869...180,204,030

G

N

sonic hedgehog signaling molecule

NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068

G

G

sonic hedgehog signaling molecule

NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395

G

P

sonic hedgehog signaling molecule

NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484

G

S

sonic hedgehog signaling molecule

NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599

G

D

sonic hedgehog signaling molecule

NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903

G

B

sonic hedgehog signaling molecule

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

G

C

sonic hedgehog signaling molecule

NCBI chrNW_004955491:8,647,133...8,657,381

G

R

sonic hedgehog signaling molecule

RGD

NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170

G

M

sonic hedgehog

RGD

NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254

G

H

sonic hedgehog signaling molecule

RGD

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

G

N

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chrNW_004624798:9,444,536...9,609,957
Ensembl chrNW_004624798:9,444,919...9,609,134

G

G

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chr13:52,518,428...52,742,961

G

P

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375

G

S

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chrNW_004936658:3,632,314...3,814,134
Ensembl chrNW_004936658:3,632,536...3,812,805

G

D

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chr 1:60,662,704...60,873,881
Ensembl chr 1:60,667,721...60,873,614

G

B

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chr 6:118,884,928...119,139,138
Ensembl chr 6:123,022,008...123,273,810

G

C

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chrNW_004955436:3,385,216...3,542,497
Ensembl chrNW_004955436:3,386,180...3,540,933

G

R

TBC1 domain family, member 32

OMIM:192350 | OMIM:276950

NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,359,863...35,590,415

G

M

TBC1 domain family, member 32

OMIM:192350 | OMIM:276950

NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785

G

H

TBC1 domain family member 32

OMIM:192350 | OMIM:276950

NCBI chr 6:121,079,494...121,334,729
Ensembl chr 6:121,079,494...121,334,745

G

N

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chrNW_004624824:1,446,827...1,511,062
Ensembl chrNW_004624824:1,446,827...1,511,225

G

G

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr 5:3,339,954...3,405,218
Ensembl chr 5:3,340,040...3,405,166

G

P

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015

G

S

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chrNW_004936694:667,687...704,994
Ensembl chrNW_004936694:667,691...704,994

G

D

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427

G

B

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr16:2,578,483...2,637,996
Ensembl chr16:3,753,799...3,786,429

G

C

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chrNW_004955442:13,697,471...13,733,161
Ensembl chrNW_004955442:13,696,810...13,733,161

G

R

TNF receptor-associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,464,821...11,498,981

G

M

TNF receptor-associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691

G

H

TNF receptor associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr16:3,658,037...3,717,524
Ensembl chr16:3,651,639...3,717,553

X-linked VACTERL association

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chrNW_004624838:1,907,825...2,007,089
Ensembl chrNW_004624838:1,908,527...2,007,052

G

G

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr24:11,580,379...11,708,320
Ensembl chr24:11,581,164...11,706,292

G

P

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889

G

S

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620

G

D

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr 8:13,604,694...13,694,508
Ensembl chr 8:13,605,182...13,693,847

G

B

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473

G

C

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chrNW_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180

G

R

bromodomain adjacent to zinc finger domain, 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr 6:78,124,872...78,247,672
Ensembl chr 6:72,389,703...72,512,459

G

M

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133

G

H

bromodomain adjacent to zinc finger domain 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647

G

N

FA complementation group B

ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chrNW_004624944:358,836...383,161
Ensembl chrNW_004624944:364,563...383,098

G

G

FA complementation group B

ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:13,321,304...13,352,368
Ensembl chr X:13,321,527...13,342,478

G

P

FA complementation group B

ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:11,386,360...11,408,958
Ensembl chr X:11,384,912...11,409,057

G

S

FA complementation group B

ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chrNW_004936470:4,305,220...4,323,456
Ensembl chrNW_004936470:4,305,740...4,323,374

G

D

FA complementation group B

ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:10,690,826...11,140,838
Ensembl chr X:11,095,200...11,141,029

G

B

FA complementation group B

ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817

G

C

FA complementation group B

ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814

G

R

FA complementation group B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:33,035,387...33,051,993
Ensembl chr X:29,403,771...29,420,192

G

M

Fanconi anemia, complementation group B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:163,763,678...163,780,266
Ensembl chr X:163,763,588...163,780,268

G

H

FA complementation group B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

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

G

N

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chrNW_004624833:3,603,712...3,692,540
Ensembl chrNW_004624833:3,603,383...3,663,572

G

G

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr14:48,725,447...48,803,892
Ensembl chr14:48,725,541...48,805,356

G

P

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942

G

S

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chrNW_004936491:4,057,312...4,119,966
Ensembl chrNW_004936491:4,029,388...4,119,976

G

D

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482

G

B

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496

G

C

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180

G

R

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr14:104,449,403...104,515,297
Ensembl chr14:100,248,875...100,314,255

G

M

Fanconi anemia, complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876

G

H

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

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

G

N

phosphatase and tensin homolog

ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chrNW_004624791:13,975,235...14,056,900

G

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

P

phosphatase and tensin homolog

ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr14:99,929,590...100,021,619

G

S

phosphatase and tensin homolog

ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323

G

D

phosphatase and tensin homolog

ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

B

phosphatase and tensin homolog

ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

C

phosphatase and tensin homolog

ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829

G

R

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838

G

M

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

G

H

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More...

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930

G

N

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617

G

G

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chr 5:36,928,711...36,944,158
Ensembl chr 5:36,927,990...36,943,630

G

P

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704

G

S

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413

G

D

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521

G

B

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819

G

C

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171

G

R

spalt-like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705

G

M

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790

G

H

spalt like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

PMID:24429398 PMID:25741868 PMID:28492532

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

G

N

Zic family member 3

ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chrNW_004624808:9,201,025...9,212,192
Ensembl chrNW_004624808:9,200,952...9,212,093

G

G

Zic family member 3

ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:112,597,329...112,609,411
Ensembl chr X:112,598,466...112,601,803

G

P

Zic family member 3

ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:112,592,951...112,605,087
Ensembl chr X:112,593,301...112,604,814

G

S

Zic family member 3

ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077

G

D

Zic family member 3

ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:107,822,002...107,833,582
Ensembl chr X:107,821,948...107,833,597

G

B

Zic family member 3

ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:126,691,534...126,705,788
Ensembl chr X:136,954,024...136,967,819

G

C

Zic family member 3

ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892

G

R

Zic family member 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

OMIM
CTD
ClinVar

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:141,159,623...141,165,587
Ensembl chr X:136,124,026...136,134,746

G

M

zinc finger protein of the cerebellum 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

OMIM
CTD
ClinVar

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:57,075,988...57,081,990
Ensembl chr X:57,068,060...57,087,096

G

H

Zic family member 3

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

Term paths to the root

Path 1
Term	Annotations
disease	288179
physical disorder	54044
imperforate anus	1227
Anal Atresia, Hypospadias, and Penoscrotal Inversion	554
Axial Mesodermal Dysplasia Spectrum	0
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction	0
FG syndrome +	150
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia	0
IVIC syndrome	10
Johanson-Blizzard syndrome	11
Karandikar Maria Kamble Syndrome	0
Oculootofacial Dysplasia +	152
Omphalocele Exstrophy Imperforate Anus	0
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	0
Stratton-Parker Syndrome	0
Thymic-Renal-Anal-Lung Dysplasia	0
Townes-Brocks syndrome +	120
VACTERL association +	200
Verloes Gillerot Fryns Syndrome	0
Path 2
Term	Annotations
disease	288179
disease of anatomical entity	271815
gastrointestinal system disease	79896
intestinal disease	34905
rectal disease	20236
anus disease	1779
imperforate anus	1227
Anal Atresia, Hypospadias, and Penoscrotal Inversion	554
Axial Mesodermal Dysplasia Spectrum	0
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction	0
FG syndrome +	150
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia	0
IVIC syndrome	10
Johanson-Blizzard syndrome	11
Karandikar Maria Kamble Syndrome	0
Oculootofacial Dysplasia +	152
Omphalocele Exstrophy Imperforate Anus	0
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	0
Stratton-Parker Syndrome	0
Thymic-Renal-Anal-Lung Dysplasia	0
Townes-Brocks syndrome +	120
VACTERL association +	200
Verloes Gillerot Fryns Syndrome	0

paths to the root