RGD DISEASE ONTOLOGY - ANNOTATIONS
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: double outlet right ventricle
Accession: DOID:6406
browse the term
Definition: Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted.
Synonyms: exact_synonym: Double Outlet Right Ventricle, Noncommitted VSD; Double Outlet Right Ventricle, Subaortic VSD; Double Outlet Right Ventricle, Subpulmonary VSD; Taussig Bing Anomaly; Taussig-Bing syndrome or defect; dextrotransposition of aorta; double outlet right ventricle with subpulmonary ventricular septal defect
primary_id: MESH:D004310
xref: GARD:1908 ; ICD10CM:Q20.1 ; ICD9CM:745.11 ; NCI:C98916 ; ORDO:3426
For additional species annotation, visit the
Alliance of Genome Resources .
Please select species to view GViewer data.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760
G
G
CERS1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr 6:17,331,021...17,351,542
G
P
CERS1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr 2:58,951,463...58,972,692
Ensembl chr 2:58,951,727...58,974,670
G
S
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chrNW_004936596:2,442,978...2,467,184
Ensembl chrNW_004936596:2,442,991...2,467,184
G
D
CERS1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr20:44,216,568...44,231,820
G
B
CERS1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487
G
C
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370
G
R
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,104,466...19,112,519
G
M
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
G
H
CERS1
ceramide synthase 1
IAGP
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
G
R
Cfc1
cripto, FRL-1, cryptic family 1
ISS
OMIM:217095
MouseDO
NCBI chr 9:44,234,997...44,247,846
Ensembl chr 9:36,739,071...36,751,930
G
M
Cfc1
cryptic, EGF-CFC family member 1
IAGP
OMIM:217095
MouseDO
NCBI chr 1:34,574,729...34,583,392
Ensembl chr 1:34,574,729...34,583,394
G
H
CFC1
cryptic, EGF-CFC family member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11799476
NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
G
P
CFC1B
cryptic, EGF-CFC family member 1B
ISO
OMIM:217095
MouseDO
NCBI chr15:56,943,183...56,951,929
G
B
CFC1B
cryptic, EGF-CFC family member 1B
ISO
OMIM:217095
MouseDO
NCBI chr2B:29,354,004...29,362,161
G
H
CFC1B
cryptic, EGF-CFC family member 1B
ISS
OMIM:217095
MouseDO
NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604
G
N
Dll4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284
G
G
DLL4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828
G
P
DLL4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
G
S
Dll4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253
G
D
DLL4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940
G
B
DLL4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
G
C
Dll4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420
G
R
Dll4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
G
M
Dll4
delta like canonical Notch ligand 4
susceptibility
IMP
RGD
PMID:34859965
RGD:155663381
NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
G
H
DLL4
delta like canonical Notch ligand 4
susceptibility
ISO
RGD
PMID:34859965
RGD:155663381
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
G
N
Ece1
endothelin converting enzyme 1
ISO
OMIM:217095
MouseDO
NCBI chrNW_004624764:6,222,301...6,318,423
Ensembl chrNW_004624764:6,221,867...6,318,477
G
G
ECE1
endothelin converting enzyme 1
ISO
OMIM:217095
MouseDO
NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821
G
P
ECE1
endothelin converting enzyme 1
ISO
OMIM:217095
MouseDO
NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152
G
S
Ece1
endothelin converting enzyme 1
ISO
OMIM:217095
MouseDO
NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005
G
D
ECE1
endothelin converting enzyme 1
ISO
OMIM:217095
MouseDO
NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
G
B
ECE1
endothelin converting enzyme 1
ISO
OMIM:217095
MouseDO
NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909
G
C
Ece1
endothelin converting enzyme 1
ISO
OMIM:217095
MouseDO
NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489
G
R
Ece1
endothelin converting enzyme 1
ISS
OMIM:217095
MouseDO
NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371
G
M
Ece1
endothelin converting enzyme 1
IAGP
OMIM:217095
MouseDO
NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540
G
H
ECE1
endothelin converting enzyme 1
ISS
OMIM:217095
MouseDO
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
G
N
Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953
G
G
GDF1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
Ensembl chr 6:17,329,143...17,330,837
G
P
GDF1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
G
S
Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chrNW_004936596:2,467,428...2,469,213
Ensembl chrNW_004936596:2,467,431...2,471,476
G
D
GDF1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr20:44,233,304...44,234,072
G
B
GDF1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17924340 PMID:25741868
NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487
G
R
Gdf1
growth differentiation factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Double outlet right ventricle
CTD ClinVar
PMID:17924340 PMID:25741868
NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,097,314...19,112,519
G
M
Gdf1
growth differentiation factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Double outlet right ventricle
CTD ClinVar
PMID:17924340 PMID:25741868
NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 Ensembl chr 8:70,768,425...70,784,242
G
H
GDF1
growth differentiation factor 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Double outlet right ventricle
CTD ClinVar
PMID:17924340 PMID:25741868
NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
G
N
Isl1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chrNW_004624759:7,996,177...8,006,281
Ensembl chrNW_004624759:7,994,242...8,006,311
G
G
ISL1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552
G
P
ISL1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907
G
S
Isl1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chrNW_004936480:15,805,259...15,817,854
Ensembl chrNW_004936480:15,805,247...15,817,854
G
D
ISL1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183
G
B
ISL1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674
G
C
Isl1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chrNW_004955446:15,824,956...15,835,000
Ensembl chrNW_004955446:15,824,035...15,835,046
G
R
Isl1
ISL LIM homeobox 1
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584
G
M
Isl1
ISL1 transcription factor, LIM/homeodomain
ISO
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225
G
H
ISL1
ISL LIM homeobox 1
IAGP
DNA:mutation:cds:c.225C>G(human)
RGD
PMID:31484864
RGD:243048467
NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
G
G
LOC103247122
cryptic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11799476
G
H
LOC126860469
BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644
IAGP
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:21919901
NCBI chr 8:105,802,217...105,803,416
G
D
LOC609557
cryptic protein
ISO
OMIM:217095
MouseDO
NCBI chr19:20,318,937...20,384,369
G
N
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chrNW_004624865:780,163...785,776
G
G
MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr14:91,685,376...91,692,091
G
P
MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046
G
S
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315
G
D
MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr17:11,720,857...11,724,308
G
B
MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr2A:15,925,130...15,931,605
G
C
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818
G
R
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590
G
M
Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
G
H
MYCN
MYCN proto-oncogene, bHLH transcription factor
IAGP
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
G
N
Setd5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555
G
G
SETD5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217
G
P
SETD5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506
G
S
Setd5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269
G
D
SETD5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674
G
B
SETD5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
G
C
Setd5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691
G
R
Setd5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:146,217,180...146,294,894
G
M
Setd5
SET domain containing 5
IMP
RGD
PMID:34050709
RGD:155794379
NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
G
H
SETD5
SET domain containing 5
ISO
RGD
PMID:34050709
RGD:155794379
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
G
N
Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chrNW_004624770:11,190,103...11,275,823
Ensembl chrNW_004624770:11,190,595...11,221,512
G
G
YES1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr18:60,086,011...60,168,973
Ensembl chr18:60,088,525...60,120,114
G
P
YES1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 6:105,505,944...105,600,694
Ensembl chr 6:105,505,479...105,600,687
G
D
YES1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 7:67,532,790...67,598,285
Ensembl chr 7:67,532,790...67,598,285
G
B
YES1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr18:13,513,124...13,605,379
Ensembl chr18:15,848,765...17,245,246
G
C
Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chrNW_004955402:9,199,704...9,255,183
Ensembl chrNW_004955402:9,226,295...9,256,044
G
R
Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 9:120,646,657...120,753,880
Ensembl chr 9:113,200,256...113,299,837
G
M
Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 5:32,768,502...32,844,410
Ensembl chr 5:32,768,515...32,844,401
G
H
YES1
YES proto-oncogene 1, Src family tyrosine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr18:721,588...812,753
Ensembl chr18:721,588...812,546
G
N
Zfpm2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953
G
G
ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chr 8:100,138,867...100,620,355
G
P
ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
G
S
Zfpm2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662
G
D
ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
G
B
ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688
G
C
Zfpm2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271
G
R
Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205
G
M
Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988
G
H
ZFPM2
zinc finger protein, FOG family member 2
IAGP
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25333069 PMID:25741868 PMID:25996639 PMID:27058611 PMID:28492532 More...
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
G
H
ZFPM2-AS1
ZFPM2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:17568391 PMID:20807224 PMID:21919901 PMID:25741868 PMID:28492532
NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
M
9930012K11Rik
RIKEN cDNA 9930012K11 gene
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,391,854...70,396,951
Ensembl chr14:70,391,854...70,396,951
G
N
Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chrNW_004624755:24,854,742...24,927,912
Ensembl chrNW_004624755:24,854,742...24,928,006
G
G
ADD1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778
G
P
ADD1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650
G
S
Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152
G
D
ADD1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
G
B
ADD1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012
G
C
Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917
G
R
Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182
G
M
Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652
G
H
ADD1
adducin 1
IAGP
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
G
N
Bin3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,121,125...18,163,142
Ensembl chrNW_004624758:18,121,125...18,163,044
G
G
BIN3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,700,664...20,748,775
Ensembl chr 8:20,701,390...20,725,210
G
P
BIN3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,874,281...6,926,950
Ensembl chr14:6,874,300...6,889,133
G
D
BIN3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,615,683...34,659,739
Ensembl chr25:34,615,249...34,659,755
G
B
BIN3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,870,784...21,919,077
Ensembl chr 8:18,809,582...18,858,912
G
C
Bin3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,042,885...46,085,029
Ensembl chrNW_004955403:46,042,885...46,085,029
G
R
Bin3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,583,474...51,622,329
Ensembl chr15:45,173,732...45,212,604
G
M
Bin3
bridging integrator 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,337,538...70,375,413
Ensembl chr14:70,337,554...70,375,655
G
H
BIN3
bridging integrator 3
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,620,418...22,669,121
Ensembl chr 8:22,620,418...22,669,148
G
N
Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,745,344...17,788,183
Ensembl chrNW_004624758:17,744,821...17,788,510
G
G
BMP1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,234,242...20,281,768
Ensembl chr 8:20,234,184...20,283,467
G
P
BMP1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,063
G
S
Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,990,822...6,023,864
Ensembl chrNW_004936555:5,990,836...6,023,878
G
D
BMP1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545
G
B
BMP1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796
G
C
Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,660,591...45,693,724
Ensembl chrNW_004955403:45,660,588...45,693,724
G
R
Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776
G
M
Bmp1
bone morphogenetic protein 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,711,998...70,758,280
Ensembl chr14:70,711,998...70,757,674
G
H
BMP1
bone morphogenetic protein 1
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
G
R
C15h8orf58
similar to human chromosome 8 open reading frame 58
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,228,615...45,235,274
Ensembl chr15:45,228,615...45,233,254
G
D
C25H8orf58
chromosome 25 C8orf58 homolog
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,674,918...34,679,389
Ensembl chr25:34,674,756...34,679,454
G
B
C7H8orf58
chromosome 7 C8orf58 homolog
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,849,622...21,854,234
Ensembl chr 8:18,783,612...18,792,386
G
H
C8orf58
chromosome 8 open reading frame 58
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,599,599...22,604,142
Ensembl chr 8:22,599,599...22,604,150
G
N
Ccar2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,106,621...18,120,910
Ensembl chrNW_004624758:18,106,606...18,120,907
G
G
CCAR2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,685,482...20,700,424
Ensembl chr 8:20,686,504...20,699,707
G
P
CCAR2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,860,052...6,874,334
Ensembl chr14:6,859,664...6,874,327
G
S
Ccar2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,341,455...6,356,677
Ensembl chrNW_004936555:6,341,390...6,356,668
G
D
CCAR2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,660,026...34,674,129
Ensembl chr25:34,660,553...34,674,037
G
B
CCAR2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,854,803...21,870,556
Ensembl chr 8:18,794,027...18,808,571
G
C
Ccar2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,027,997...46,042,154
Ensembl chrNW_004955403:46,027,998...46,042,154
G
R
Ccar2
cell cycle and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,622,519...51,637,911
Ensembl chr15:45,212,803...45,227,636
G
M
Ccar2
cell cycle activator and apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,375,617...70,391,272
Ensembl chr14:70,375,613...70,391,260
G
H
CCAR2
cell cycle and apoptosis regulator 2
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,604,757...22,621,514
Ensembl chr 8:22,604,757...22,620,964
G
N
Chmp7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,524,338...18,538,909
Ensembl chrNW_004624758:18,524,290...18,538,083
G
G
CHMP7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,370,334...21,390,036
Ensembl chr 8:21,373,968...21,387,698
G
P
CHMP7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,390,066...7,403,657
Ensembl chr14:7,390,061...7,403,654
G
S
Chmp7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,730,284...6,757,816
Ensembl chrNW_004936555:6,745,738...6,756,467
G
D
CHMP7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,242,671...34,257,268
Ensembl chr25:34,244,022...34,257,211
G
B
CHMP7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,497,479...22,513,005
Ensembl chr 8:19,434,829...19,450,221
G
C
Chmp7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,467,463...46,478,897
Ensembl chrNW_004955403:46,467,463...46,478,897
G
R
Chmp7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,200,759...51,215,992
Ensembl chr15:44,790,996...44,806,216
G
M
Chmp7
charged multivesicular body protein 7
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:69,954,428...69,970,019
Ensembl chr14:69,954,449...69,969,990
G
H
CHMP7
charged multivesicular body protein 7
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,243,637...23,261,999
Ensembl chr 8:23,243,637...23,262,000
G
N
CUNH8orf58
chromosome unknown C8orf58 homolog
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,099,118...18,106,056
Ensembl chrNW_004624758:18,101,772...18,105,212
G
G
CUNH8orf58
chromosome unknown C8orf58 homolog
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,680,207...20,684,351
Ensembl chr 8:20,680,342...20,684,332
G
S
CUNH8orf58
chromosome unknown C8orf58 homolog
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,336,092...6,340,862
Ensembl chrNW_004936555:6,336,522...6,340,032
G
C
CUNH8orf58
chromosome unknown C8orf58 homolog
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,024,484...46,027,834
Ensembl chrNW_004955403:46,023,610...46,026,997
G
N
Dmtn
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,640,938...17,672,709
Ensembl chrNW_004624758:17,655,803...17,671,666
G
G
DMTN
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,120,054...20,154,368
Ensembl chr 8:20,125,703...20,152,985
G
P
DMTN
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,315,643...6,346,722
Ensembl chr14:6,321,870...6,346,865
G
S
Dmtn
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,884,746...5,911,171
Ensembl chrNW_004936555:5,896,471...5,910,098
G
D
DMTN
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,163,867...35,188,761
Ensembl chr25:35,165,876...35,176,754
G
B
DMTN
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,293,759...21,327,600
Ensembl chr 8:18,251,886...18,266,229
G
C
Dmtn
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,566,180...45,579,062
Ensembl chrNW_004955403:45,566,180...45,578,079
G
R
Dmtn
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,087,667...52,111,956
Ensembl chr15:45,677,977...45,705,601
G
M
Dmtn
dematin actin binding protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,839,624...70,873,488
Ensembl chr14:70,838,703...70,873,418
G
H
DMTN
dematin actin binding protein
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,048,931...22,082,525
Ensembl chr 8:22,048,995...22,082,527
G
N
Egr3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,180,787...18,186,148
Ensembl chrNW_004624758:18,180,123...18,186,196
G
G
EGR3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,767,219...20,772,838
Ensembl chr 8:20,767,224...20,772,682
G
P
EGR3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,943,184...6,948,507
Ensembl chr14:6,944,935...6,948,580
G
S
Egr3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,347,446...6,393,784
Ensembl chrNW_004936555:6,356,691...6,393,825 Ensembl chrNW_004936555:6,356,691...6,393,825
G
D
EGR3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,591,691...34,597,144
Ensembl chr25:34,591,863...34,594,346
G
B
EGR3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,937,516...21,943,646
Ensembl chr 8:18,877,396...18,882,874
G
C
Egr3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,105,447...46,108,149
Ensembl chrNW_004955403:46,105,447...46,108,149
G
R
Egr3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,560,482...51,565,778
Ensembl chr15:45,150,567...45,154,627
G
M
Egr3
early growth response 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,314,766...70,320,062
Ensembl chr14:70,314,652...70,320,063
G
H
EGR3
early growth response 3
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,687,659...22,693,480
Ensembl chr 8:22,687,659...22,693,480
G
N
Entpd4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,670,609...18,697,594
Ensembl chrNW_004624758:18,670,041...18,697,619
G
G
ENTPD4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,528,520...21,574,330
Ensembl chr 8:21,543,888...21,574,311
G
P
ENTPD4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,565,610...7,604,464
Ensembl chr14:7,565,604...7,594,057
G
S
Entpd4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,896,661...6,920,333
Ensembl chrNW_004936555:6,893,393...6,919,584
G
D
ENTPD4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,032,104...34,067,772
Ensembl chr25:34,032,055...34,063,281
G
B
ENTPD4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,678,746...22,707,408
Ensembl chr 8:19,571,337...19,635,150
G
C
Entpd4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,609,211...46,637,622
Ensembl chrNW_004955403:46,609,211...46,637,643
G
R
Entpd4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,040,665...51,068,450
Ensembl chr15:44,630,873...44,658,706
G
M
Entpd4
ectonucleoside triphosphate diphosphohydrolase 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:69,574,600...69,604,191
Ensembl chr14:69,574,623...69,604,719
G
H
ENTPD4
ectonucleoside triphosphate diphosphohydrolase 4
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,429,162...23,457,647
Ensembl chr 8:23,385,783...23,457,695
G
N
Fgf17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,634,606...17,640,590
Ensembl chrNW_004624758:17,634,994...17,640,560
G
G
FGF17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,111,858...20,119,785
Ensembl chr 8:20,116,561...20,119,746
G
P
FGF17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882
G
S
Fgf17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,869,156...5,877,674
Ensembl chrNW_004936555:5,872,586...5,878,099
G
D
FGF17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,194,400...35,204,787
Ensembl chr25:35,194,394...35,199,792
G
B
FGF17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,284,451...21,293,633
Ensembl chr 8:18,224,461...18,233,537
G
C
Fgf17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,544,114...45,548,659
Ensembl chrNW_004955403:45,544,114...45,548,659
G
R
Fgf17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,118,141...52,132,083
Ensembl chr15:45,711,998...45,717,063
G
M
Fgf17
fibroblast growth factor 17
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,873,643...70,880,064
Ensembl chr14:70,873,643...70,879,708
G
H
FGF17
fibroblast growth factor 17
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
G
N
Fhip2b
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,677,862...17,690,799
Ensembl chrNW_004624758:17,677,843...17,689,446
G
G
FHIP2B
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,159,036...20,173,973
Ensembl chr 8:20,167,153...20,172,511
G
P
FHIP2B
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,360,333...6,376,941
Ensembl chr14:6,360,412...6,376,922
G
S
Fhip2b
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,918,354...5,928,036
Ensembl chrNW_004936555:5,918,339...5,928,539
G
D
FHIP2B
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,144,949...35,157,228
Ensembl chr25:35,146,390...35,162,394
G
B
FHIP2B
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,333,581...21,349,344
Ensembl chr 8:18,279,023...18,287,880
G
C
Fhip2b
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,587,970...45,597,700
Ensembl chrNW_004955403:45,587,970...45,597,700
G
R
Fhip2b
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,656,641...45,674,603
Ensembl chr15:45,656,647...45,674,105
G
M
Fhip2b
FHF complex subunit HOOK interacting protein 2B
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,820,733...70,837,309
Ensembl chr14:70,820,736...70,837,275
G
H
FHIP2B
FHF complex subunit HOOK interacting protein 2B
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,089,150...22,104,911
Ensembl chr 8:22,089,150...22,104,911
G
N
Foxh1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774
G
G
FOXH1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144
G
P
FOXH1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481
G
S
Foxh1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chrNW_004936470:7,789,486...7,791,067
Ensembl chrNW_004936470:7,789,541...7,791,039
G
D
FOXH1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
G
B
FOXH1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736
G
C
Foxh1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512
G
R
Foxh1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect DNA:misense mutations:cds:multiple
ClinVar RGD
PMID:25741868 PMID:32003456 PMID:32003456
RGD:155791676
NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049
G
M
Foxh1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect DNA:misense mutations:cds:multiple
ClinVar RGD
PMID:25741868 PMID:32003456 PMID:32003456
RGD:155791676
NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148
G
H
FOXH1
forkhead box H1
IAGP
DNA:misense mutations:cds:multiple ClinVar Annotator: match by term: Conotruncal defect
ClinVar RGD
PMID:25741868 PMID:32003456 PMID:32003456
RGD:155791676
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
G
N
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
G
G
GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746
G
P
GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626
G
S
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399
G
D
GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chr 7:65,932,114...65,962,574
G
B
GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chr18:15,411,764...15,444,402
G
R
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
G
M
Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
G
H
GATA6
GATA binding protein 6
IAGP
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 More...
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
G
N
Hr
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,699,357...17,719,188
Ensembl chrNW_004624758:17,699,400...17,715,482
G
G
HR
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700
G
P
HR
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,903...6,407,031
G
S
Hr
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974
G
D
HR
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
G
B
HR
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151
G
C
Hr
HR lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,605,870...45,624,386
Ensembl chrNW_004955403:45,605,510...45,624,402
G
R
Hr
HR, lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313
G
M
Hr
lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988
G
H
HR
HR lysine demethylase and nuclear receptor corepressor
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384
G
N
Lgi3
leucine rich repeat LGI family member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,729,290...17,737,677
Ensembl chrNW_004624758:17,726,018...17,737,740
G
G
LGI3
leucine rich repeat LGI family member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,216,373...20,226,744
Ensembl chr 8:20,216,372...20,225,599
G
P
LGI3
leucine rich repeat LGI family member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,419,100...6,429,266
Ensembl chr14:6,419,592...6,428,563
G
S
Lgi3
leucine rich repeat LGI family member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,966,617...5,973,898
Ensembl chrNW_004936555:5,966,577...5,973,954
G
D
LGI3
leucine rich repeat LGI family member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,097,464...35,105,930
Ensembl chr25:35,097,566...35,105,940
G
B
LGI3
leucine rich repeat LGI family member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,391,765...21,401,770
Ensembl chr 8:18,330,815...18,340,403
G
C
Lgi3
leucine rich repeat LGI family member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,634,237...45,644,172
Ensembl chrNW_004955403:45,634,237...45,644,172
G
R
Lgi3
leucine-rich repeat LGI family, member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,015,317...52,022,445
Ensembl chr15:45,605,611...45,612,739
G
M
Lgi3
leucine-rich repeat LGI family, member 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,765,982...70,775,764
Ensembl chr14:70,768,125...70,775,764
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LGI3
leucine rich repeat LGI family member 3
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084
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D
LOC100688321
tumor necrosis factor receptor superfamily member 26-like
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr18:47,008,850...47,029,029
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P
LOC100737977
tumor necrosis factor receptor superfamily member 10B-like
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,344,788...7,371,086
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G
LOC103215471
tumor necrosis factor receptor superfamily member 10D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,242,378...21,300,551
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G
LOC103215717
uncharacterized LOC103215717
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,172,978...21,216,474
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N
Loxl2
lysyl oxidase like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,567,367...18,644,528
Ensembl chrNW_004624758:18,568,607...18,621,785
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G
LOXL2
lysyl oxidase like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,416,821...21,516,923
Ensembl chr 8:21,416,787...21,516,854
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P
LOXL2
lysyl oxidase like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704
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S
Loxl2
lysyl oxidase like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,781,563...6,865,662
Ensembl chrNW_004936555:6,781,321...6,865,768
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D
LOXL2
lysyl oxidase like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969
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LOXL2
lysyl oxidase like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522
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C
Loxl2
lysyl oxidase like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016
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Loxl2
lysyl oxidase-like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,091,547...51,182,843
Ensembl chr15:44,683,880...44,773,067
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M
Loxl2
lysyl oxidase-like 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:69,846,085...69,933,283
Ensembl chr14:69,846,517...69,933,283
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H
LOXL2
lysyl oxidase like 2
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328
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Mir320
microRNA 320
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031
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Mir320a
microRNA 320a
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473
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H
MIR320A
microRNA 320a
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043
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Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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G
MTHFR
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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P
MTHFR
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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S
Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193
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D
MTHFR
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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B
MTHFR
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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C
Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240
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R
Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
G
M
Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
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H
MTHFR
methylenetetrahydrofolate reductase
no_association
IAGP
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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N
Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210
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NKX2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205
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P
NKX2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162
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S
Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046
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D
NKX2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592
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B
NKX2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
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C
Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840
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R
Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934
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M
Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983
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H
NKX2-5
NK2 homeobox 5
IAGP
ClinVar Annotator: match by term: Conotruncal cardiac defects ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15810002 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21091212 PMID:21110066 PMID:22920929 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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N
Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chrNW_004624758:18,908,988...18,914,794
Ensembl chrNW_004624758:18,911,010...18,914,001
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NKX2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801
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NKX2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr14:7,811,200...7,815,553
Ensembl chr14:7,811,200...7,815,645
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Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chrNW_004936555:7,111,678...7,114,944
Ensembl chrNW_004936555:7,111,678...7,114,944
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D
NKX2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761
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NKX2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643
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Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chrNW_004955403:46,831,758...46,836,358
Ensembl chrNW_004955403:46,831,696...46,836,333
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Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr15:50,852,965...50,857,060
Ensembl chr15:44,443,101...44,447,247
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Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967
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NKX2-6
NK2 homeobox 6
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
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N
Nkx3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,874,399...18,876,982
Ensembl chrNW_004624758:18,875,475...18,876,971
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NKX3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,792,069...21,797,258
Ensembl chr 8:21,791,422...21,796,319
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NKX3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,783,296...7,787,036
Ensembl chr14:7,783,323...7,787,033
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S
Nkx3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:7,087,677...7,091,334
Ensembl chrNW_004936555:7,088,577...7,091,334
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NKX3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:33,815,343...33,817,465
Ensembl chr25:33,815,095...33,817,474
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NKX3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,926,145...22,930,396
Ensembl chr 8:19,863,275...19,864,942
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Nkx3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,807,846...46,809,924
Ensembl chrNW_004955403:46,806,178...46,836,310
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Nkx3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:50,883,661...50,886,253
Ensembl chr15:44,473,851...44,476,441
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M
Nkx3-1
NK3 homeobox 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:69,428,141...69,432,107
Ensembl chr14:69,428,087...69,432,111
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H
NKX3-1
NK3 homeobox 1
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,678,693...23,682,938
Ensembl chr 8:23,678,697...23,682,938
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N
Nudt18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,691,790...17,695,027
Ensembl chrNW_004624758:17,691,803...17,694,945
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G
NUDT18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,176,500...20,184,637
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P
NUDT18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,378,987...6,381,712
Ensembl chr14:6,377,815...6,381,596
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S
Nudt18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,929,262...5,932,334
Ensembl chrNW_004936555:5,928,601...5,932,400
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D
NUDT18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,139,580...35,144,066
Ensembl chr25:35,140,969...35,143,063
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B
NUDT18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,351,840...21,356,915
Ensembl chr 8:18,293,555...18,297,078
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C
Nudt18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,598,813...45,601,940
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R
Nudt18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:45,650,597...45,653,985
Ensembl chr15:45,650,664...45,653,963
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M
Nudt18
nudix hydrolase 18
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,815,264...70,820,128
Ensembl chr14:70,815,077...70,820,128
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H
NUDT18
nudix hydrolase 18
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,106,878...22,110,482
Ensembl chr 8:22,105,748...22,109,419
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N
Pdlim2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,085,818...18,098,621
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G
PDLIM2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,658,642...20,674,915
Ensembl chr 8:20,659,361...20,674,900
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P
PDLIM2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,834,116...6,848,536
Ensembl chr14:6,834,779...6,848,526
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S
Pdlim2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,318,813...6,331,556
Ensembl chrNW_004936555:6,318,762...6,331,575
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D
PDLIM2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,684,954...34,699,144
Ensembl chr25:34,684,964...34,699,166
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B
PDLIM2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,828,923...21,844,483
Ensembl chr 8:18,767,142...18,783,658
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C
Pdlim2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,006,255...46,019,865
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R
Pdlim2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,647,195...51,659,904
Ensembl chr15:45,237,477...45,249,242
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M
Pdlim2
PDZ and LIM domain 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,401,667...70,415,140
Ensembl chr14:70,401,667...70,415,130
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H
PDLIM2
PDZ and LIM domain 2
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,578,741...22,598,026
Ensembl chr 8:22,578,279...22,598,025
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N
Pebp4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,203,239...18,394,891
G
G
PEBP4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,792,718...21,066,746
Ensembl chr 8:20,792,707...21,004,134
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P
PEBP4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,966,861...7,173,255
Ensembl chr14:6,966,862...7,173,347
G
S
Pebp4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,433,243...6,648,014
Ensembl chrNW_004936555:6,433,237...6,620,072
G
D
PEBP4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,329,160...34,574,086
Ensembl chr25:34,317,421...34,574,066
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B
PEBP4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,963,297...22,250,024
Ensembl chr 8:18,902,734...19,117,025
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C
Pebp4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,126,263...46,317,830
Ensembl chrNW_004955403:46,125,150...46,333,200
G
R
Pebp4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:44,920,946...45,134,188
Ensembl chr15:44,921,886...45,134,191
G
M
Pebp4
phosphatidylethanolamine binding protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,077,856...70,297,367
Ensembl chr14:70,077,869...70,297,367
G
H
PEBP4
phosphatidylethanolamine binding protein 4
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,713,251...22,941,077
Ensembl chr 8:22,713,251...23,000,000
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N
Phyhip
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,793,805...17,804,637
Ensembl chrNW_004624758:17,792,745...17,804,964
G
G
PHYHIP
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,289,215...20,301,495
Ensembl chr 8:20,289,512...20,297,577
G
P
PHYHIP
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,494,395...6,506,747
Ensembl chr14:6,494,402...6,506,546
G
S
Phyhip
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,029,393...6,040,622
Ensembl chrNW_004936555:6,029,347...6,040,758
G
D
PHYHIP
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,025,823...35,038,513
Ensembl chr25:35,026,692...35,037,163
G
B
PHYHIP
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,464,544...21,477,197
Ensembl chr 8:18,404,176...18,417,035
G
C
Phyhip
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,698,936...45,710,921
Ensembl chrNW_004955403:45,695,638...45,710,187
G
R
Phyhip
phytanoyl-CoA 2-hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,943,670...51,954,921
Ensembl chr15:45,533,974...45,545,221
G
M
Phyhip
phytanoyl-CoA hydroxylase interacting protein
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,694,957...70,706,266
Ensembl chr14:70,694,916...70,706,272
G
H
PHYHIP
phytanoyl-CoA 2-hydroxylase interacting protein
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,219,703...22,232,099
Ensembl chr 8:22,219,703...22,232,101
G
N
Piwil2
piwi like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,834,268...17,911,886
Ensembl chrNW_004624758:17,834,191...17,902,575
G
G
PIWIL2
piwi like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,347,998...20,436,016
Ensembl chr 8:20,352,771...20,433,947
G
P
PIWIL2
piwi like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,560,402...6,632,524
Ensembl chr14:6,560,565...6,632,523
G
S
Piwil2
piwi like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,078,681...6,133,184
Ensembl chrNW_004936555:6,078,681...6,133,020
G
D
PIWIL2
piwi like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,911,120...34,987,287
Ensembl chr25:34,912,358...34,987,339
G
B
PIWIL2
piwi like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,520,166...21,608,374
Ensembl chr 8:18,463,173...18,544,186
G
C
Piwil2
piwi like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,737,674...45,819,478
Ensembl chrNW_004955403:45,737,674...45,819,873
G
R
Piwil2
piwi-like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,841,104...51,907,729
Ensembl chr15:45,431,703...45,497,702
G
M
Piwil2
piwi-like RNA-mediated gene silencing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,609,926...70,674,338
Ensembl chr14:70,609,926...70,666,832
G
H
PIWIL2
piwi like RNA-mediated gene silencing 2
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,275,316...22,357,568
Ensembl chr 8:22,275,316...22,357,568
G
N
Polr3d
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,817,716...17,823,442
Ensembl chrNW_004624758:17,817,690...17,824,427
G
G
POLR3D
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,314,020...20,320,118
Ensembl chr 8:20,314,081...20,319,455
G
P
POLR3D
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,520,962...6,529,526
Ensembl chr14:6,521,024...6,532,156
G
S
Polr3d
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,051,528...6,057,165
Ensembl chrNW_004936555:6,051,476...6,057,164
G
D
POLR3D
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,011,189...35,016,617
Ensembl chr25:35,011,861...35,016,605
G
B
POLR3D
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,489,492...21,499,948
Ensembl chr 8:18,429,013...18,435,060
G
C
Polr3d
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,721,266...45,727,214
Ensembl chrNW_004955403:45,721,266...45,727,214
G
R
Polr3d
RNA polymerase III subunit D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,921,283...51,925,952
Ensembl chr15:45,511,589...45,516,353
G
M
Polr3d
polymerase (RNA) III (DNA directed) polypeptide D
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,676,188...70,680,911
Ensembl chr14:70,676,197...70,680,887
G
H
POLR3D
RNA polymerase III subunit D
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,245,133...22,254,601
Ensembl chr 8:22,245,133...22,254,601
G
N
Ppp3cc
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,969,777...18,048,476
Ensembl chrNW_004624758:17,969,705...18,049,904
G
G
PPP3CC
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,522,829...20,621,445
G
P
PPP3CC
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,711,789...6,799,318
Ensembl chr14:6,711,442...6,794,667
G
S
Ppp3cc
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,216,202...6,283,012
Ensembl chrNW_004936555:6,236,464...6,283,012
G
D
PPP3CC
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,732,268...34,839,743
Ensembl chr25:34,725,226...34,838,994
G
B
PPP3CC
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995
G
C
Ppp3cc
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,915,985...45,969,350
Ensembl chrNW_004955403:45,916,002...45,968,185
G
R
Ppp3cc
protein phosphatase 3 catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,699,586...51,771,763
Ensembl chr15:45,290,373...45,361,832
G
M
Ppp3cc
protein phosphatase 3, catalytic subunit, gamma isoform
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,455,314...70,526,979
Ensembl chr14:70,455,314...70,526,920
G
H
PPP3CC
protein phosphatase 3 catalytic subunit gamma
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,441,078...22,541,125
Ensembl chr 8:22,440,819...22,541,142
G
N
R3hcc1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,559,670...18,566,342
Ensembl chrNW_004624758:18,545,859...18,566,179
G
G
R3HCC1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,407,791...21,415,927
G
P
R3HCC1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,419,558...7,434,938
Ensembl chr14:7,405,792...7,434,935
G
S
R3hcc1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,773,104...6,779,608
Ensembl chrNW_004936555:6,773,045...6,782,983
G
D
R3HCC1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,187,691...34,206,970
Ensembl chr25:34,160,856...34,206,970
G
B
R3HCC1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,538,046...22,546,405
Ensembl chr 8:19,474,061...19,482,437
G
C
R3hcc1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,482,255...46,502,194
Ensembl chrNW_004955403:46,491,031...46,502,049
G
R
R3hcc1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:44,774,552...44,781,864
Ensembl chr15:44,774,554...44,791,800
G
M
R3hcc1
R3H domain and coiled-coil containing 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:69,934,753...69,952,258
Ensembl chr14:69,934,756...69,945,033
G
H
R3HCC1
R3H domain and coiled-coil containing 1
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,288,092...23,296,279
Ensembl chr 8:23,270,120...23,296,279
G
N
Reep4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,720,917...17,724,741
Ensembl chrNW_004624758:17,720,700...17,724,702
G
G
REEP4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,207,609...20,211,509
Ensembl chr 8:20,207,592...20,211,417
G
P
REEP4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,411,510...6,415,612
Ensembl chr14:6,411,513...6,415,590
G
S
Reep4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,958,586...5,962,472
Ensembl chrNW_004936555:5,958,352...5,962,524
G
D
REEP4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,109,210...35,113,152
Ensembl chr25:35,109,236...35,117,048
G
B
REEP4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,382,943...21,386,871
Ensembl chr 8:18,322,302...18,326,212
G
C
Reep4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,627,750...45,631,481
Ensembl chrNW_004955403:45,627,750...45,631,481
G
R
Reep4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,030,022...52,033,229
Ensembl chr15:45,619,941...45,623,526
G
M
Reep4
receptor accessory protein 4
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,782,666...70,786,375
Ensembl chr14:70,782,691...70,786,373
G
H
REEP4
receptor accessory protein 4
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,138,020...22,141,907
Ensembl chr 8:22,138,020...22,141,951
G
N
Rhobtb2
Rho related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,444,684...18,463,988
Ensembl chrNW_004624758:18,444,608...18,464,071
G
G
RHOBTB2
Rho related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,069,255...21,098,000
Ensembl chr 8:21,079,411...21,097,026
G
P
RHOBTB2
Rho related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,223,209...7,254,813
Ensembl chr14:7,222,981...7,254,780
G
S
Rhobtb2
Rho related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,664,811...6,684,756
Ensembl chrNW_004936555:6,664,768...6,682,822
G
D
RHOBTB2
Rho related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,299,363...34,329,052
Ensembl chr25:34,300,780...34,322,217
G
B
RHOBTB2
Rho related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,246,075...22,269,443
Ensembl chr 8:19,183,931...19,209,420
G
C
Rhobtb2
Rho related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,367,390...46,390,551
Ensembl chrNW_004955403:46,371,054...46,390,551
G
R
Rhobtb2
Rho-related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,278,024...51,298,209
Ensembl chr15:44,870,376...44,888,651
G
M
Rhobtb2
Rho-related BTB domain containing 2
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,022,439...70,062,296
Ensembl chr14:70,022,439...70,043,085
G
H
RHOBTB2
Rho related BTB domain containing 2
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509
G
N
Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,742,439...17,744,664
Ensembl chrNW_004624758:17,742,415...17,744,655
G
G
SFTPC
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020
G
P
SFTPC
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
G
S
Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011
G
D
SFTPC
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
G
B
SFTPC
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764
G
C
Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
G
R
Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777
G
M
Sftpc
surfactant associated protein C
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
G
H
SFTPC
surfactant protein C
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
G
N
Slc25a37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,753,465...18,792,025
Ensembl chrNW_004624758:18,753,336...18,792,088
G
G
SLC25A37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,646,854...21,691,812
Ensembl chr 8:21,646,869...21,694,938
G
P
SLC25A37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:7,665,002...7,709,998
Ensembl chr14:7,665,007...7,706,768
G
S
Slc25a37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,980,239...7,016,490
Ensembl chrNW_004936555:6,980,194...7,018,134
G
D
SLC25A37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:33,923,108...33,965,577
Ensembl chr25:33,894,132...33,965,398
G
B
SLC25A37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,778,309...22,824,871
Ensembl chr 8:19,713,441...19,759,993
G
C
Slc25a37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:46,697,560...46,739,082
Ensembl chrNW_004955403:46,697,560...46,739,903
G
R
Slc25a37
solute carrier family 25 member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:50,944,085...50,986,506
Ensembl chr15:44,536,727...44,577,199
G
M
Slc25a37
solute carrier family 25, member 37
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:69,479,297...69,522,993
Ensembl chr14:69,479,297...69,522,561
G
H
SLC25A37
solute carrier family 25 member 37
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,528,956...23,575,463
Ensembl chr 8:23,528,956...23,575,463
G
N
Slc39a14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:17,911,889...17,954,870
Ensembl chrNW_004624758:17,912,827...17,953,294
G
G
SLC39A14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,446,756...20,502,585
G
P
SLC39A14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,639,485...6,687,929
Ensembl chr14:6,639,206...6,687,924
G
S
Slc39a14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004939045:1...7,491
G
D
SLC39A14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695
G
B
SLC39A14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,617,529...21,672,726
Ensembl chr 8:18,555,895...18,621,510
G
C
Slc39a14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,828,247...45,867,309
Ensembl chrNW_004955403:45,827,942...45,867,309
G
R
Slc39a14
solute carrier family 39 member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,786,517...51,833,260
Ensembl chr15:45,376,917...45,423,524
G
M
Slc39a14
solute carrier family 39 (zinc transporter), member 14
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,540,916...70,588,873
Ensembl chr14:70,540,918...70,588,874
G
H
SLC39A14
solute carrier family 39 member 14
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
G
N
Sorbs3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,058,972...18,083,509
Ensembl chrNW_004624758:18,058,306...18,084,378
G
G
SORBS3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:20,627,947...20,655,700
Ensembl chr 8:20,630,437...20,656,154
G
P
SORBS3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:6,802,944...6,831,152
Ensembl chr14:6,808,166...6,828,975
G
S
Sorbs3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004936555:6,292,213...6,316,264
Ensembl chrNW_004936555:6,292,205...6,316,306
G
D
SORBS3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr25:34,701,495...34,725,231
Ensembl chr25:34,702,238...34,709,811
G
B
SORBS3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,794,805...21,825,675
Ensembl chr 8:18,733,776...18,763,861
G
C
Sorbs3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004955403:45,973,381...46,003,807
Ensembl chrNW_004955403:45,977,245...46,006,355
G
R
Sorbs3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,662,639...51,699,161
Ensembl chr15:45,253,379...45,284,758
G
M
Sorbs3
sorbin and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,417,917...70,449,472
Ensembl chr14:70,417,917...70,449,438
G
H
SORBS3
sorbin and SH3 domain containing 3
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,544,973...22,575,788
Ensembl chr 8:22,544,986...22,575,788
G
N
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
G
G
TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244
G
P
TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
G
S
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
G
D
TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
G
B
TBX1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr22:2,521,080...2,541,267
G
C
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380
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Tbx1
T-box 1
ISO
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
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TBX1
T-box transcription factor 1
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar Annotator: match by term: Conotruncal anomaly face syndrome
OMIM ClinVar
PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 More...
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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Tbx2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chrNW_004624871:2,428,757...2,437,447
Ensembl chrNW_004624871:2,429,407...2,437,447
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TBX2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr16:32,627,296...32,636,797
Ensembl chr16:32,627,819...32,636,880
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TBX2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr12:36,878,662...36,887,513
Ensembl chr12:36,878,675...36,887,513
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Tbx2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chrNW_004936490:2,769,264...2,778,342
Ensembl chrNW_004936490:2,769,231...2,805,238
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TBX2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr 9:35,237,323...35,245,066
Ensembl chr 9:35,235,649...35,245,736
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TBX2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189
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Tbx2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chrNW_004955451:2,458,612...2,466,264
Ensembl chrNW_004955451:2,457,568...2,466,639
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Tbx2
T-box transcription factor 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr10:71,177,082...71,186,275
Ensembl chr10:70,679,518...70,688,529
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Tbx2
T-box 2
susceptibility
ISO
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774
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TBX2
T-box transcription factor 2
susceptibility
IAGP
DNA:SNP:3'UTR:rs59382073(human)
RGD
PMID:30262811
RGD:401794414
NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
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TNFRSF10A
TNF receptor superfamily member 10a
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673
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TNFRSF10A
TNF receptor superfamily member 10a
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
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TNFRSF10A
TNF receptor superfamily member 10a
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chrNW_004624758:18,464,005...18,498,740
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TNFRSF10B
TNF receptor superfamily member 10b
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:21,101,945...21,150,362
Ensembl chr 8:21,102,267...21,150,267
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TNFRSF10B
TNF receptor superfamily member 10b
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,270,325...22,318,841
Ensembl chr 8:19,209,904...19,258,498
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf10b
tumor necrosis factor receptor superfamily, member 10b
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860
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TNFRSF10B
TNF receptor superfamily member 10b
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,020,133...23,069,031
Ensembl chr 8:23,020,133...23,069,031
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TNFRSF10C
TNF receptor superfamily member 10c
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,352,777...22,368,737
Ensembl chr 8:19,292,020...19,307,719
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TNFRSF10C
TNF receptor superfamily member 10c
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,102,921...23,117,445
Ensembl chr 8:23,102,921...23,117,445
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TNFRSF10D
TNF receptor superfamily member 10d
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:22,385,592...22,414,142
Ensembl chr 8:19,324,232...19,352,766
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TNFRSF10D
TNF receptor superfamily member 10d
IAGP
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 8:23,135,588...23,164,027
Ensembl chr 8:23,135,588...23,164,027
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Tnfrsf22
tumor necrosis factor receptor superfamily, member 22
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar
PMID:28492532
NCBI chr 1:208,269,844...208,285,823
Ensembl chr 1:198,840,453...198,856,309
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