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: newborn respiratory distress syndrome
Accession: DOID:12716
browse the term
Definition: A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. (DO)
Synonyms: exact_synonym: HMD - hyaline membrane disease; NEONATAL RESPIRATORY DISTRESS; Neonatal Respiratory Distress Syndrome; RDS - Infants; infantile respiratory distress syndrome; pulmonary hyaline membrane disease; pulmonary hypoperfusion syndrome of newborn; respiratory distress syndrome of newborn; respiratory distress syndrome, infant
primary_id: MESH:D012127
alt_id: DOID:9002636; MESH:C538359 ; OMIA:000101
xref: EFO:1000644 ; ICD10CM:P22.0
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
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chrNW_004624766:9,018,616...9,092,365
Ensembl chrNW_004624766:9,018,721...9,092,287
G
G
ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:47,494,861...47,578,818
Ensembl chr 1:47,494,959...47,578,882
G
P
ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
G
S
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chrNW_004936528:1,608,782...1,682,873
Ensembl chrNW_004936528:1,608,757...1,682,975
G
D
ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981
G
B
ABCC8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
G
C
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053
G
R
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
G
M
Abcc8
ATP-binding cassette, sub-family C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457
G
H
ABCC8
ATP binding cassette subfamily C member 8
IAGP
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
G
N
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
G
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr21:109,495,525...109,690,261
G
P
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
G
S
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
G
D
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
G
B
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
G
C
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004955494:2,567,238...2,712,708
G
R
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
G
M
Braf
Braf transforming gene
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
G
H
BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
G
N
Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
G
G
CAT
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
G
P
CAT
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
G
S
Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
G
D
CAT
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
G
B
CAT
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
C
Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
G
R
Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
G
M
Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
G
H
CAT
catalase
susceptibility
IAGP
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
N
Des
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283
G
G
DES
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chr10:105,312,348...105,320,869
G
P
DES
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
G
S
Des
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562
G
D
DES
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
G
B
DES
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
G
C
Des
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
G
R
Des
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699
G
M
Des
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
G
H
DES
desmin
IAGP
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 PMID:36497166 More...
NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
G
N
Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072
G
G
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581
G
P
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188
G
S
Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825
G
D
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334
G
B
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
G
C
Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chrNW_004955412:6,267,726...6,518,888
Ensembl chrNW_004955412:6,268,214...6,518,468
G
R
Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183
G
M
Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446
G
H
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
IAGP
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
G
N
Epas1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chrNW_004624738:27,747,770...27,831,213
Ensembl chrNW_004624738:27,747,696...27,834,054
G
G
EPAS1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785
G
P
EPAS1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079
G
S
Epas1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chrNW_004936508:5,855,748...5,938,879
Ensembl chrNW_004936508:5,855,732...5,938,856
G
D
EPAS1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844
G
B
EPAS1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
G
C
Epas1
endothelial PAS domain protein 1
ISO
OMIM:267450
MouseDO
NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369
G
R
Epas1
endothelial PAS domain protein 1
ISS
OMIM:267450
MouseDO
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
G
M
Epas1
endothelial PAS domain protein 1
IAGP
OMIM:267450
MouseDO
NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838
G
H
EPAS1
endothelial PAS domain protein 1
ISS
OMIM:267450
MouseDO
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
G
N
Gjb2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
G
G
GJB2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
G
P
GJB2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
G
S
Gjb2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929
G
D
GJB2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
G
B
GJB2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
G
C
Gjb2
gap junction protein beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
G
R
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177
G
M
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
G
H
GJB2
gap junction protein beta 2
IAGP
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
G
N
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
G
G
HMOX1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971
G
P
HMOX1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
G
S
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
G
D
HMOX1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
G
B
HMOX1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
G
C
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
G
R
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
G
M
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
G
H
HMOX1
heme oxygenase 1
IEP
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
G
N
Icam1
intercellular adhesion molecule 1
ISO
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) protein:increased expression:lung (mouse)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
G
G
ICAM1
intercellular adhesion molecule 1
ISO
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) protein:increased expression:lung (mouse)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
G
P
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
G
S
Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
G
D
ICAM1
intercellular adhesion molecule 1
ISO
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) protein:increased expression:lung (mouse)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
G
B
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
G
C
Icam1
intercellular adhesion molecule 1
ISO
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) protein:increased expression:lung (mouse)
RGD
PMID:19837405 PMID:20888423
RGD:4145440 RGD:4145493
NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
G
R
Icam1
intercellular adhesion molecule 1
ISO IEP
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:20888423 PMID:19837405
RGD:4145440 , RGD:4145493
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
G
M
Icam1
intercellular adhesion molecule 1
IEP ISO
protein:increased expression:lung (mouse) associated with Reperfusion Injury;mRNA, protein:increased expression:lung (rat)
RGD
PMID:20888423 PMID:19837405
RGD:4145440 , RGD:4145493
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
H
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:20888423 PMID:19837405
RGD:4145440 , RGD:4145493
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
B
LOC103783265
pulmonary surfactant-associated protein A1
susceptibility
ISO
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 PMID:11504697
RGD:4143428 RGD:4143433
NCBI chr10:76,571,312...76,575,820
G
D
LOC119868927
pulmonary surfactant-associated protein A-like
ISO
DNA:polymorphism (human)
RGD
PMID:9475280
RGD:4143445
G
D
LOC610540
pulmonary surfactant-associated protein A-like
susceptibility
ISO
protein:increased expression:lung DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
RGD
PMID:11063734 PMID:11504697
RGD:4143428 RGD:4143433
NCBI chr 4:29,430,139...29,434,640
G
D
MBL1
mannose binding lectin 1
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 4:29,419,886...29,424,377
G
N
Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
G
MBL2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
G
P
MBL2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
G
B
MBL2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
G
C
Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
G
R
Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 1:237,429,873...237,465,567
G
M
Mbl2
mannose-binding lectin (protein C) 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
G
H
MBL2
mannose binding lectin 2
disease_progression
IEP
RGD
PMID:25879044
RGD:12910849
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
N
Megf10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chrNW_004624774:14,147,412...14,354,886
Ensembl chrNW_004624774:14,153,687...14,355,406
G
G
MEGF10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr23:30,028,154...30,405,033
Ensembl chr23:30,234,489...30,404,996
G
P
MEGF10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr 2:130,226,222...130,403,960
Ensembl chr 2:130,189,556...130,401,077
G
S
Megf10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chrNW_004936504:634,167...753,438
Ensembl chrNW_004936504:586,190...756,255
G
D
MEGF10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr11:16,359,648...16,574,882
Ensembl chr11:16,378,669...16,617,335
G
B
MEGF10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr 5:122,639,155...122,877,324
Ensembl chr 5:128,466,095...128,641,043
G
C
Megf10
multiple EGF like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chrNW_004955415:393,642...513,157
Ensembl chrNW_004955415:335,012...513,891
G
R
Megf10
multiple EGF-like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:52,803,292...52,953,431
Ensembl chr18:50,605,656...50,754,456
G
M
Megf10
multiple EGF-like-domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:57,266,162...57,430,539
Ensembl chr18:57,266,162...57,430,539
G
H
MEGF10
multiple EGF like domains 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
G
N
Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821
G
G
MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757
G
P
MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
G
S
Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
G
D
MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
G
B
MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
G
C
Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chrNW_004955455:8,367,566...8,368,460
Ensembl chrNW_004955455:8,367,566...8,368,460
G
R
Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
G
M
Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
IMP
RGD
PMID:18097062
RGD:4891007
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
G
H
MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
G
N
Ndst1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309
G
G
NDST1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chr23:53,109,806...53,159,880
Ensembl chr23:53,123,222...53,155,016
G
P
NDST1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chr 2:151,433,925...151,525,909
Ensembl chr 2:151,489,521...151,522,749
G
S
Ndst1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chrNW_004936504:4,413,549...4,495,933
Ensembl chrNW_004936504:4,413,549...4,454,109
G
D
NDST1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chr 4:58,580,231...58,639,750
Ensembl chr 4:58,532,148...58,640,191
G
B
NDST1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668
G
C
Ndst1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:267450
MouseDO
NCBI chrNW_004955415:4,017,142...4,078,927
Ensembl chrNW_004955415:3,999,473...4,060,998
G
R
Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:267450
MouseDO
NCBI chr18:56,407,308...56,470,007
Ensembl chr18:54,140,779...54,178,191
G
M
Ndst1
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
IAGP
OMIM:267450
MouseDO
NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722
G
H
NDST1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:267450
MouseDO
NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211
G
N
Nprl2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chrNW_004624730:4,196,154...4,200,100
Ensembl chrNW_004624730:4,196,154...4,200,102
G
G
NPRL2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr22:11,735,853...11,739,325
G
P
NPRL2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr13:32,830,895...32,834,205
Ensembl chr13:32,830,899...32,834,183
G
S
Nprl2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chrNW_004939530:1,745...5,100
Ensembl chrNW_004939530:1,769...5,100
G
D
NPRL2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr20:39,005,699...39,009,183
Ensembl chr20:39,005,734...39,009,189
G
B
NPRL2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 3:50,273,611...50,277,175
Ensembl chr 3:51,508,932...51,512,776
G
C
Nprl2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chrNW_004955532:2,148,950...2,152,671
Ensembl chrNW_004955532:2,148,950...2,152,671
G
R
Nprl2
NPR2-like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 8:117,094,443...117,097,639
Ensembl chr 8:108,215,814...108,218,996
G
M
Nprl2
NPR2 like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 9:107,419,405...107,422,905
Ensembl chr 9:107,419,425...107,422,905
G
H
NPRL2
NPR2 like, GATOR1 complex subunit
IAGP
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 3:50,347,330...50,350,775
Ensembl chr 3:50,347,330...50,350,826
G
G
NPSR1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr21:23,558,313...23,784,475
G
P
NPSR1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr18:38,942,499...39,212,791
Ensembl chr18:38,942,487...39,085,754
G
S
Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chrNW_004936478:10,352,894...10,542,949
Ensembl chrNW_004936478:10,352,741...10,544,102
G
D
NPSR1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr14:46,465,169...46,610,256
Ensembl chr14:46,466,544...46,609,477
G
B
NPSR1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 7:35,274,102...35,494,389
Ensembl chr 7:35,663,335...35,883,988
G
C
Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chrNW_004955560:1,069,651...1,243,111
Ensembl chrNW_004955560:1,069,651...1,243,111
G
R
Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 8:30,882,830...31,107,425
Ensembl chr 8:22,606,946...22,831,558
G
M
Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 9:24,009,212...24,229,151
Ensembl chr 9:24,009,292...24,227,694
G
H
NPSR1
neuropeptide S receptor 1
IAGP
RGD
PMID:16938805
RGD:4891932
NCBI chr 7:34,658,218...34,878,332
Ensembl chr 7:34,658,218...34,878,332
G
P
SFTPA1
surfactant protein A1
susceptibility
ISO
protein:increased expression:lung DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
RGD
PMID:11063734 PMID:11504697
RGD:4143428 RGD:4143433
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
G
R
Sftpa1
surfactant protein A1
susceptibility
ISO IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 PMID:11504697
RGD:4143433 , RGD:4143428
NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,008,180...17,011,685
G
M
Sftpa1
surfactant associated protein A1
susceptibility
ISO
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 PMID:11504697
RGD:4143433 , RGD:4143428
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
G
H
SFTPA1
surfactant protein A1
susceptibility
IAGP ISO
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 PMID:11504697
RGD:4143433 , RGD:4143428
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
G
H
SFTPA2
surfactant protein A2
IAGP
DNA:polymorphism (human)
RGD
PMID:9475280
RGD:4143445
NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407
G
N
Sftpb
surfactant protein B
susceptibility
ISO
mRNA, protein:decreased expression:lung DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human)
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chrNW_004624749:17,486,483...17,495,822
Ensembl chrNW_004624749:17,486,518...17,493,846
G
G
SFTPB
surfactant protein B
susceptibility
ISO
DNA:polymorphism: :p.T131I (human) DNA:polymorphism:intron (human) mRNA, protein:decreased expression:lung
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850
G
P
SFTPB
surfactant protein B
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
G
S
Sftpb
surfactant protein B
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chrNW_004936712:1,614,979...1,621,207
Ensembl chrNW_004936712:1,614,979...1,622,466
G
D
SFTPB
surfactant protein B
susceptibility
ISO
DNA:polymorphism: :p.T131I (human) DNA:polymorphism:intron (human) mRNA, protein:decreased expression:lung
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229
G
B
SFTPB
surfactant protein B
susceptibility
ISO
DNA:polymorphism:intron (human) mRNA, protein:decreased expression:lung DNA:polymorphism: :p.T131I (human)
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332
G
C
Sftpb
surfactant protein B
susceptibility
ISO
DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung DNA:polymorphism:intron (human)
RGD
PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:12490037 PMID:18353230 More...
RGD:4143376 RGD:4143416 RGD:4143418 RGD:4143428 RGD:4143433 RGD:4143455
NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087
G
R
Sftpb
surfactant protein B
susceptibility
ISO IEP
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:12490037 PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:18353230 More...
RGD:4143416 , RGD:4143455 , RGD:4143433 , RGD:4143428 , RGD:4143418 , RGD:4143376
NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:104,359,396...104,368,436
G
M
Sftpb
surfactant associated protein B
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:12490037 PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:18353230 More...
RGD:4143416 , RGD:4143455 , RGD:4143433 , RGD:4143428 , RGD:4143418 , RGD:4143376
NCBI chr 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354
G
H
SFTPB
surfactant protein B
susceptibility
IDA IAGP ISO IEP
DNA:polymorphism:intron (human) mRNA, protein:decreased expression:lung DNA:polymorphism: :p.T131I (human)
RGD
PMID:12490037 PMID:7832777 PMID:12424586 PMID:11504697 PMID:11063734 PMID:18353230 More...
RGD:4143416 , RGD:4143455 , RGD:4143418 , RGD:4143428 , RGD:4143433 , RGD:4143376
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
G
N
Sftpc
surfactant protein C
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
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: Neonatal respiratory distress
ClinVar
PMID:25741868
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: Neonatal respiratory distress
ClinVar
PMID:25741868
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: Neonatal respiratory distress
ClinVar
PMID:25741868
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: Neonatal respiratory distress
ClinVar
PMID:25741868
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: Neonatal respiratory distress
ClinVar
PMID:25741868
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: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837
G
R
Sftpc
surfactant protein C
IEP ISO
mRNA, protein:decreased expression:lung ClinVar Annotator: match by term: Neonatal respiratory distress protein:altered processing:amniotic fluid, lung
ClinVar RGD
PMID:25741868 PMID:11504697 PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777
G
M
Sftpc
surfactant associated protein C
ISO
mRNA, protein:decreased expression:lung ClinVar Annotator: match by term: Neonatal respiratory distress protein:altered processing:amniotic fluid, lung
ClinVar RGD
PMID:25741868 PMID:11504697 PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
G
H
SFTPC
surfactant protein C
ISO IAGP IEP
mRNA, protein:decreased expression:lung ClinVar Annotator: match by term: Neonatal respiratory distress protein:altered processing:amniotic fluid, lung
ClinVar RGD
PMID:25741868 PMID:11504697 PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
G
N
Sftpd
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chrNW_004624841:6,917,067...6,938,594
Ensembl chrNW_004624841:6,916,849...6,936,077
G
G
SFTPD
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chr 9:51,809,241...51,820,974
Ensembl chr 9:51,811,052...51,820,650
G
P
SFTPD
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
G
S
Sftpd
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chrNW_004936716:60,754...73,010
Ensembl chrNW_004936716:60,656...73,099
G
D
SFTPD
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293
G
B
SFTPD
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181
G
C
Sftpd
surfactant protein D
susceptibility
ISO
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:11504697 PMID:17524024
RGD:4143428 RGD:4143507
NCBI chrNW_004955510:213,468...226,096
Ensembl chrNW_004955510:213,438...225,896
G
R
Sftpd
surfactant protein D
susceptibility
ISO IEP
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:17524024 PMID:11504697
RGD:4143507 , RGD:4143428
NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,046,483...17,059,927
G
M
Sftpd
surfactant associated protein D
susceptibility
ISO
protein:increased expression:lung DNA:SNP: :p.A160T (human)
RGD
PMID:11504697 PMID:17524024
RGD:4143428 , RGD:4143507
NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
G
H
SFTPD
surfactant protein D
susceptibility
ISO IAGP
protein:increased expression:lung DNA:SNP: :p.A160T (human)
RGD
PMID:11504697 PMID:17524024
RGD:4143428 , RGD:4143507
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
G
N
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
G
G
SOD1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr 2:60,461,219...60,472,999
G
P
SOD1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
G
S
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
G
D
SOD1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
G
B
SOD1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr21:18,029,831...18,037,526
G
C
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
G
R
Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
G
M
Sod1
superoxide dismutase 1, soluble
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
G
H
SOD1
superoxide dismutase 1
susceptibility
IAGP
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
G
N
Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chrNW_004624807:9,332,202...9,348,610
Ensembl chrNW_004624807:9,336,904...9,348,396
G
G
TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr25:28,035,563...28,054,322
Ensembl chr25:28,040,087...28,054,120
G
P
TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
G
S
Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chrNW_004936567:3,052,167...3,069,077
Ensembl chrNW_004936567:3,056,845...3,068,887
G
D
TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741
G
B
TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr 1:176,957,298...176,976,033
G
C
Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639
G
R
Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr13:49,819,123...49,837,125
Ensembl chr13:47,267,204...47,285,388
G
M
Tnnt2
troponin T2, cardiac
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998
G
H
TNNT2
troponin T2, cardiac type
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
G
N
Vegfa
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chrNW_004624754:15,929,414...15,943,637
G
G
VEGFA
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chr17:28,377,959...28,394,508
G
P
VEGFA
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
S
Vegfa
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
G
D
VEGFA
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
G
B
VEGFA
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
G
C
Vegfa
vascular endothelial growth factor A
ISO
OMIM:267450
MouseDO
NCBI chrNW_004955437:9,527,445...9,541,908
G
R
Vegfa
vascular endothelial growth factor A
ISS
OMIM:267450
MouseDO
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
G
M
Vegfa
vascular endothelial growth factor A
IAGP
OMIM:267450
MouseDO
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
H
VEGFA
vascular endothelial growth factor A
ISS
OMIM:267450
MouseDO
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 More...
NCBI chrNW_004624767:18,038,559...18,065,745
Ensembl chrNW_004624767:18,036,650...18,065,742
G
G
IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 More...
NCBI chr 1:5,619,138...5,655,033
Ensembl chr 1:5,619,425...5,655,737
G
P
IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 More...
NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
G
S
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 More...
NCBI chrNW_004936599:1,406,815...1,439,764
Ensembl chrNW_004936599:1,406,802...1,439,774
G
D
IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 More...
NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453
G
B
IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 More...
NCBI chr11:63,991,285...64,028,430
Ensembl chr11:67,294,195...67,331,659
G
C
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 More...
NCBI chrNW_004955422:17,017,855...17,047,724
Ensembl chrNW_004955422:17,017,358...17,048,650
G
R
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure OMIM:604320 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 PMID:11528396 More...
RGD:737748
NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:200,506,338...200,529,514
G
M
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO IAGP
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure CTD Direct Evidence: marker/mechanism OMIM:604320
ClinVar CTD MouseDO OMIM RGD
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 PMID:11528396 More...
RGD:737748
NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017
G
H
IGHMBP2
immunoglobulin mu DNA binding protein 2
IAGP ISS EXP
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure OMIM:604320 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15287252 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25248952 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25525159 PMID:25568292 PMID:25640679 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26354092 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:27848944 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29431110 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30665423 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31069529 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:33502066 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:34986626 PMID:35660062 PMID:35936615 PMID:36077311 PMID:38772550 PMID:11528396 More...
RGD:737748
NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602
G
H
LOC126861245
CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678
IAGP
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure
ClinVar
PMID:9536098 PMID:11528396 PMID:14681881 PMID:15503272 PMID:16199547 PMID:17576681 PMID:23566544 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25439726 PMID:25568292 PMID:25741868 PMID:26257172 PMID:26467025 PMID:28492532 PMID:30598237 PMID:30665247 PMID:30665423 PMID:34232518 PMID:34602496 More...
NCBI chr11:68,934,011...68,935,210
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
M
1700123O20Rik
RIKEN cDNA 1700123O20 gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,923,628...54,928,201
Ensembl chr14:54,923,673...54,928,198
G
M
4931414P19Rik
RIKEN cDNA 4931414P19 gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,821,119...54,843,450
Ensembl chr14:54,821,120...54,843,450
G
N
Abhd4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:9,088,907...9,101,474
Ensembl chrNW_004624825:9,088,957...9,102,419
G
G
ABHD4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:22,967,290...22,981,017
Ensembl chr29:22,967,374...22,979,622
G
P
ABHD4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,396,548...76,431,836
Ensembl chr 7:76,396,484...76,431,809
G
S
Abhd4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,658,287...1,671,848
Ensembl chrNW_004936722:1,658,302...1,671,853
G
D
ABHD4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:2,997,112...3,011,524
Ensembl chr 8:2,997,202...3,011,056
G
B
ABHD4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,434,357...3,448,471
Ensembl chr14:21,535,753...21,549,856
G
C
Abhd4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,650,220...37,662,950
Ensembl chrNW_004955409:37,650,109...37,663,459
G
R
Abhd4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966
G
M
Abhd4
abhydrolase domain containing 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,491,586...54,506,626
Ensembl chr14:54,491,645...54,508,094
G
H
ABHD4
abhydrolase domain containing 4, N-acyl phospholipase B
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,598,300...22,612,963
Ensembl chr14:22,598,290...22,612,963
G
N
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,444,435...9,483,867
Ensembl chrNW_004624820:9,444,467...9,483,975
G
G
ACIN1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,427,866...23,464,717
Ensembl chr29:23,427,573...23,464,394
G
P
ACIN1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,951,203...75,989,234
Ensembl chr 7:75,951,203...75,989,231
G
S
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,252,083...1,264,018
Ensembl chrNW_004936722:1,227,198...1,264,855
G
D
ACIN1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,370,469...3,405,710
Ensembl chr 8:3,371,004...3,405,682
G
B
ACIN1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,878,426...3,915,802
Ensembl chr14:21,975,370...22,012,092
G
C
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,206,675...37,246,851
Ensembl chrNW_004955409:37,206,675...37,246,922
G
R
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,072,121...32,117,004
Ensembl chr15:28,102,112...28,147,001
G
M
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,879,618...54,924,422
Ensembl chr14:54,879,618...54,924,388
G
H
ACIN1
apoptotic chromatin condensation inducer 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,058,564...23,095,614
Ensembl chr14:23,058,564...23,095,614
G
N
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,170,258...8,186,214
Ensembl chrNW_004624820:8,169,816...8,189,168
G
G
ADCY4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,301,445...1,318,171
Ensembl chr24:1,301,506...1,316,868
G
P
ADCY4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,955,410...74,972,440
Ensembl chr 7:74,956,220...74,972,196
G
S
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:213,916...230,802
Ensembl chrNW_004936722:213,916...230,906
G
D
ADCY4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,288,708...4,304,092
Ensembl chr 8:4,288,714...4,304,589
G
B
ADCY4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,094,899...5,111,603
Ensembl chr14:23,218,178...23,234,861
G
C
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,966,529...35,982,839
Ensembl chrNW_004955409:35,966,332...35,982,218
G
R
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,236,201...33,252,070
Ensembl chr15:29,266,287...29,282,108
G
M
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,006,513...56,021,552
Ensembl chr14:56,006,514...56,021,552
G
H
ADCY4
adenylate cyclase 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,318,359...24,335,071
Ensembl chr14:24,318,349...24,335,093
G
N
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,551,664...9,562,773
Ensembl chrNW_004624820:9,552,287...9,563,472
G
G
AJUBA
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,341,841...23,352,630
Ensembl chr29:23,341,249...23,352,685
G
P
AJUBA
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,063,009...76,072,884
Ensembl chr 7:76,063,058...76,076,585
G
S
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,331,568...1,341,854
Ensembl chrNW_004936722:1,331,566...1,341,863
G
D
AJUBA
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708
G
B
AJUBA
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700
G
C
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,318,597...37,329,068
Ensembl chrNW_004955409:37,318,597...37,329,155
G
R
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,989,796...32,000,042
Ensembl chr15:28,019,778...28,030,021
G
M
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,804,926...54,815,118
Ensembl chr14:54,804,929...54,815,015
G
H
AJUBA
ajuba LIM protein
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,971,177...22,982,551
Ensembl chr14:22,971,177...22,982,551
G
N
Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:3,992,769...4,393,055
Ensembl chrNW_004624838:3,999,663...4,393,055
G
P
AKAP6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177
G
S
Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:6,744,923...7,228,670
Ensembl chrNW_004936494:6,744,892...7,228,686
G
D
AKAP6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:11,403,655...11,882,684
Ensembl chr 8:11,406,280...11,874,406
G
B
AKAP6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166
G
C
Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:28,067,814...28,516,881
Ensembl chrNW_004955409:28,077,621...28,516,944
G
R
Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,919,350...76,359,667
Ensembl chr 6:70,184,175...70,619,738
G
M
Akap6
A kinase anchor protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,745,371...53,202,351
Ensembl chr12:52,746,166...53,202,382
G
H
AKAP6
A-kinase anchoring protein 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:32,329,298...32,837,684
Ensembl chr14:32,329,298...32,837,684
G
G
ANG
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,215,985...21,226,927
G
P
ANG
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
G
S
Ang
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:39,372...40,070
G
B
ANG
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,548,693...1,558,528
Ensembl chr14:19,614,950...19,615,393
G
R
Ang
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:26,786,233...26,796,883
G
M
Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
G
H
ANG
angiogenin
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
G
N
Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,011,251...9,019,487
Ensembl chrNW_004624820:9,011,345...9,019,487
G
G
AP1G2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,930,703...23,939,239
Ensembl chr29:23,929,216...23,938,553
G
P
AP1G2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,533,131...75,549,490
Ensembl chr 7:75,533,202...75,549,488
G
S
Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:851,182...859,238
Ensembl chrNW_004936722:851,917...859,052
G
D
AP1G2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,785,085...3,793,081
Ensembl chr 8:3,629,585...3,792,725
G
B
AP1G2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,378,017...4,386,319
Ensembl chr14:22,471,343...22,479,801
G
C
Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,795,351...36,803,605
Ensembl chrNW_004955409:36,795,358...36,803,605
G
R
Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,541,528...32,549,392
Ensembl chr15:28,571,568...28,589,004
G
M
Ap1g2
adaptor protein complex AP-1, gamma 2 subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,336,292...55,344,050
Ensembl chr14:55,336,032...55,344,050
G
H
AP1G2
adaptor related protein complex 1 subunit gamma 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,559,567...23,567,791
Ensembl chr14:23,559,565...23,568,070
G
N
Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,214,991...1,265,051
Ensembl chrNW_004624820:1,214,662...1,265,243
G
G
AP4S1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr13:13,825,831...13,826,957
G
P
AP4S1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,420,286...68,475,643
Ensembl chr 7:68,393,285...68,471,722
G
S
Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:5,720,474...5,758,888
G
D
AP4S1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,342,988...10,397,171
Ensembl chr 8:10,343,510...10,397,175
G
B
AP4S1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,797,778...11,868,127
Ensembl chr14:29,996,877...30,063,239
G
C
Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,482,820...29,530,691
Ensembl chrNW_004955409:29,482,980...29,505,835
G
R
Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,863,742...74,916,907
Ensembl chr 6:69,133,373...69,175,496
G
M
Ap4s1
adaptor-related protein complex AP-4, sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,708,545...51,785,716
Ensembl chr12:51,737,816...51,791,569
G
H
AP4S1
adaptor related protein complex 4 subunit sigma 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
G
N
Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,880,065...18,883,456
Ensembl chrNW_004624731:18,882,690...18,883,217
G
G
ARF6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,948,794...26,952,803
Ensembl chr24:26,949,388...26,950,074
G
P
ARF6
ADP ribosylation factor 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,697,582...179,717,299
Ensembl chr 1:179,713,299...179,717,841
G
S
Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:181,490...185,466
Ensembl chrNW_004936583:181,490...185,471
G
D
ARF6
ADP ribosylation factor 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,445,407...26,449,430
Ensembl chr 8:26,445,647...26,525,530
G
B
ARF6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,482,191...30,486,741
Ensembl chr14:48,789,329...48,789,856
G
C
Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,814,814...12,818,142
Ensembl chrNW_004955409:12,817,496...12,818,023
G
R
Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,589,777...93,590,925
Ensembl chr 6:87,840,142...87,874,114
G
M
Arf6
ARF GTPase 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,418,924...69,422,754
Ensembl chr12:69,418,924...69,420,557
G
H
ARF6
ARF GTPase 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,893,082...49,897,054
Ensembl chr14:49,893,079...49,897,054
G
N
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:302,000...381,043
Ensembl chrNW_004624820:305,475...381,058
G
G
ARHGAP5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:8,914,485...8,986,498
Ensembl chr24:8,928,252...8,988,302
G
P
ARHGAP5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197
G
S
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:6,562,092...6,624,015
Ensembl chrNW_004936494:6,562,069...6,623,175
G
D
ARHGAP5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:11,190,663...11,269,353
Ensembl chr 8:11,204,696...11,267,086
G
B
ARHGAP5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,844,042...12,934,411
Ensembl chr14:31,036,511...31,125,349
G
C
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:28,627,176...28,682,302
Ensembl chrNW_004955409:28,627,176...28,705,893
G
R
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,711,199...75,774,636
Ensembl chr 6:69,976,214...70,037,660
G
M
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,550,555...52,618,761
Ensembl chr12:52,550,755...52,618,758
G
H
ARHGAP5
Rho GTPase activating protein 5
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:32,077,304...32,159,728
Ensembl chr14:32,076,114...32,159,728
G
N
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,067,010...7,084,928
Ensembl chrNW_004624825:7,067,138...7,084,663
G
G
ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,543,572...21,563,229
Ensembl chr29:21,546,064...21,562,558
G
P
ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,043,995...78,067,546
Ensembl chr 7:78,042,057...78,064,913
G
S
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:277,002...293,489
Ensembl chrNW_004936880:274,488...292,742
G
D
ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,161,418...18,178,325
Ensembl chr15:18,160,835...18,179,029
G
B
ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466
G
C
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,837,903...1,854,490
Ensembl chrNW_004955550:1,837,899...1,856,005
G
R
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
G
M
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,222,158...52,243,704
Ensembl chr14:52,222,176...52,243,708
G
H
ARHGEF40
Rho guanine nucleotide exchange factor 40
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,061,264...21,090,248
Ensembl chr14:21,070,273...21,090,248
G
N
Baz1a
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,907,825...2,007,089
Ensembl chrNW_004624838:1,908,527...2,007,052
G
G
BAZ1A
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,580,379...11,708,320
Ensembl chr24:11,581,164...11,706,292
G
P
BAZ1A
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889
G
S
Baz1a
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620
G
D
BAZ1A
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,604,694...13,694,508
Ensembl chr 8:13,605,182...13,693,847
G
B
BAZ1A
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
G
C
Baz1a
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,136,961...26,231,960
Ensembl chrNW_004955409:26,149,665...26,231,180
G
R
Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,124,872...78,247,672
Ensembl chr 6:72,389,703...72,512,459
G
M
Baz1a
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133
G
H
BAZ1A
bromodomain adjacent to zinc finger domain 1A
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647
G
P
BCL2L2
BCL2 like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763
G
D
BCL2L2
BCL2 like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,569,335...3,573,922
Ensembl chr 8:3,569,399...3,586,070
G
R
Bcl2l2
Bcl2-like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624
G
M
Bcl2l2
BCL2-like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691
G
H
BCL2L2
BCL2 like 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,306,833...23,311,751
Ensembl chr14:23,298,790...23,311,751
G
H
BCL2L2-PABPN1
BCL2L2-PABPN1 readthrough
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,306,833...23,326,163
Ensembl chr14:23,306,833...23,326,175
G
N
Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:984,051...1,020,498
Ensembl chrNW_004624838:985,822...1,020,477
G
G
BRMS1L
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:12,630,194...12,678,120
Ensembl chr24:12,630,693...12,678,162
G
P
BRMS1L
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,083,286...64,123,852
Ensembl chr 7:64,083,289...64,123,857
G
S
Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,885,446...9,926,978
Ensembl chrNW_004936494:9,885,067...9,929,130
G
D
BRMS1L
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:14,487,055...14,517,613
Ensembl chr 8:14,487,086...14,516,264
G
B
BRMS1L
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,579,323...16,628,005
Ensembl chr14:34,759,935...34,807,803
G
C
Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,286,312...25,319,557
Ensembl chrNW_004955409:25,285,974...25,319,557
G
R
Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:79,001,803...79,035,735
Ensembl chr 6:73,266,691...73,300,631
G
M
Brms1l
breast cancer metastasis-suppressor 1-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,883,109...55,916,521
Ensembl chr12:55,883,109...55,916,521
G
H
BRMS1L
BRMS1 like transcriptional repressor
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,826,338...35,871,963
Ensembl chr14:35,826,338...35,932,325
G
H
C14orf119
chromosome 14 open reading frame 119
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,095,505...23,100,456
Ensembl chr14:23,095,505...23,100,456
G
H
C14orf93
chromosome 14 open reading frame 93
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,985,894...23,010,143
Ensembl chr14:22,985,894...23,010,166
G
B
C15H14orf119
chromosome 15 C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,915,675...3,918,781
G
R
C15h14orf119
similar to human chromosome 14 open reading frame 119
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,116,220...32,121,425
Ensembl chr15:28,146,333...28,155,180
G
B
C15H14orf93
chromosome 15 C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,807,076...3,830,892
Ensembl chr14:21,905,028...21,928,242
G
R
C15h14orf93
similar to human chromosome 14 open reading frame 93
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,007,591...32,034,337
Ensembl chr15:28,037,574...28,064,274
G
P
C1H14orf28
chromosome 1 C14orf28 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,145,918...175,156,597
Ensembl chr 1:175,145,913...175,156,606
G
P
C7H14orf119
chromosome 7 C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,947,765...75,951,047
Ensembl chr 7:75,947,769...75,950,956
G
P
C7H14orf93
chromosome 7 C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,033,750...76,061,877
Ensembl chr 7:76,045,686...76,058,891
G
D
C8H14orf28
chromosome 8 C14orf28 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,366,822...22,378,411
Ensembl chr 8:22,369,790...22,375,025
G
D
C8H14orf93
chromosome 8 C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,305,532...3,316,072
Ensembl chr 8:3,305,751...3,316,079
G
N
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,460,032...8,477,298
Ensembl chrNW_004624820:8,459,756...8,477,287
G
G
CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,034,790...1,053,169
Ensembl chr24:1,035,947...1,052,844
G
P
CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,222,528...75,241,243
Ensembl chr 7:75,222,521...75,241,277
G
S
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:463,791...480,594
Ensembl chrNW_004936722:464,240...480,590
G
D
CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,059,154...4,076,385
Ensembl chr 8:4,059,133...4,076,396
G
B
CARMIL3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,830,041...4,847,897
Ensembl chr14:22,954,274...22,971,981
G
C
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,324,141...36,341,648
Ensembl chrNW_004955409:36,324,474...36,340,931
G
R
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,948,228...32,965,829
Ensembl chr15:28,979,007...28,996,225
G
M
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,728,108...55,745,729
Ensembl chr14:55,728,108...55,745,729
G
H
CARMIL3
capping protein regulator and myosin 1 linker 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,052,009...24,069,729
Ensembl chr14:24,052,009...24,069,729
G
N
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,084,910...8,090,580
Ensembl chrNW_004624820:8,085,705...8,087,053
G
G
CBLN3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,409,147...1,412,140
Ensembl chr24:1,410,406...1,411,667
G
P
CBLN3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,865,931...74,868,443
Ensembl chr 7:74,864,114...74,868,445
G
S
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:125,758...127,002
Ensembl chrNW_004936722:125,758...127,063
G
D
CBLN3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,399,188...4,402,478
Ensembl chr 8:4,400,462...4,401,754
G
B
CBLN3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,200,297...5,206,018
G
C
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,880,337...35,882,485
Ensembl chrNW_004955409:35,881,075...35,882,268
G
R
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,331,919...33,334,428
Ensembl chr15:29,362,302...29,364,612
G
M
Cbln3
cerebellin 3 precursor protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,116,377...56,121,713
Ensembl chr14:56,116,370...56,121,849
G
H
CBLN3
cerebellin 3 precursor
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,426,545...24,429,668
Ensembl chr14:24,426,545...24,430,954
G
N
Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,484,779...9,494,891
Ensembl chrNW_004624820:9,485,919...9,494,990
G
G
CDH24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,416,449...23,427,764
Ensembl chr29:23,417,354...23,426,738
G
P
CDH24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,990,185...76,001,133
Ensembl chr 7:75,990,220...76,001,130
G
S
Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,265,583...1,276,443
Ensembl chrNW_004936722:1,265,219...1,275,920
G
D
CDH24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,359,452...3,369,590
Ensembl chr 8:3,359,875...3,367,942
G
B
CDH24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,866,958...3,877,393
Ensembl chr14:21,964,897...21,972,528
G
C
Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,249,377...37,257,420
Ensembl chrNW_004955409:37,249,531...37,256,603
G
R
Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,061,588...32,071,323
Ensembl chr15:28,091,637...28,101,340
G
M
Cdh24
cadherin-like 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,868,688...54,878,853
Ensembl chr14:54,868,688...54,878,821
G
H
CDH24
cadherin 24
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,047,067...23,057,520
Ensembl chr14:23,047,062...23,057,538
G
N
Cebpe
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,423,725...9,425,338
Ensembl chrNW_004624820:9,423,725...9,425,338
G
G
CEBPE
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,485,966...23,488,615
Ensembl chr29:23,486,148...23,487,755
G
P
CEBPE
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,769
G
S
Cebpe
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,207,718...1,209,482
Ensembl chrNW_004936722:1,207,743...1,209,482
G
D
CEBPE
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,423,046...3,425,595
Ensembl chr 8:3,423,040...3,425,217
G
B
CEBPE
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219
G
C
Cebpe
CCAAT enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,186,282...37,187,914
Ensembl chrNW_004955409:37,186,039...37,187,921
G
R
Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,139,716...32,141,476
Ensembl chr15:28,169,704...28,171,814
G
M
Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631
G
H
CEBPE
CCAAT enhancer binding protein epsilon
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
G
N
Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,032,658...2,036,893
Ensembl chrNW_004624838:2,031,895...2,037,728
G
G
CFL2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,541,226...11,545,690
Ensembl chr24:11,543,638...11,544,335
G
P
CFL2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512
G
S
Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:8,946,442...8,948,320
G
D
CFL2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,578,152...13,582,408
Ensembl chr 8:13,580,360...13,582,442
G
B
CFL2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473
G
C
Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,247,050...26,250,082
Ensembl chrNW_004955409:26,246,369...26,250,082
G
R
Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,090,843...78,094,888
Ensembl chr 6:72,355,664...72,359,674
G
M
Cfl2
cofilin 2, muscle
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,905,602...54,910,065
Ensembl chr12:54,905,594...54,909,662
G
H
CFL2
cofilin 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
G
N
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,411,629...7,475,111
Ensembl chrNW_004624825:7,411,629...7,474,526
G
G
CHD8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,856,434...21,924,761
Ensembl chr29:21,856,263...21,924,787
G
P
CHD8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,719,476...77,780,148
Ensembl chr 7:77,719,582...77,780,146
G
S
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080
G
D
CHD8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920
G
B
CHD8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,202,847...2,274,012
Ensembl chr14:20,281,422...20,326,361
G
C
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,115,649...2,175,687
Ensembl chrNW_004955550:2,115,649...2,175,181
G
R
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,379,285...27,438,959
Ensembl chr15:24,905,789...24,951,285
G
M
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237
G
H
CHD8
chromodomain helicase DNA binding protein 8
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126
G
N
Chmp4a
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,281,081...8,284,969
G
G
CHMP4A
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,192,581...1,196,989
Ensembl chr24:1,192,842...1,197,742
G
P
CHMP4A
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,089,092...75,093,796
Ensembl chr 7:75,089,423...75,097,761
G
S
Chmp4a
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:341,066...344,928
Ensembl chrNW_004936722:341,307...345,104
G
D
CHMP4A
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,195,766...4,200,101
Ensembl chr 8:4,195,975...4,200,086
G
B
CHMP4A
charged multivesicular body protein 4A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,985,642...4,989,985
G
H
CHMP4A
charged multivesicular body protein 4A
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,209,615...24,213,488
Ensembl chr14:24,209,615...24,213,830
G
N
Cideb
cell death inducing DFFA like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,196,608...8,199,346
Ensembl chrNW_004624820:8,196,653...8,199,367
G
G
CIDEB
cell death inducing DFFA like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
Ensembl chr24:1,287,932...1,291,573
G
P
CIDEB
cell death inducing DFFA like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,982,941...74,985,776
Ensembl chr 7:74,982,855...74,985,775
G
S
Cideb
cell death inducing DFFA like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:241,484...249,935
Ensembl chrNW_004936722:245,567...249,917
G
D
CIDEB
cell death inducing DFFA like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,275,700...4,278,612
G
C
Cideb
cell death inducing DFFA like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,993,853...35,996,935
Ensembl chrNW_004955409:35,993,853...35,996,935
G
R
Cideb
cell death-inducing DFFA-like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,222,135...33,226,407
Ensembl chr15:29,252,213...29,256,605
G
M
Cideb
cell death-inducing DNA fragmentation factor, alpha subunit-like effector B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,991,509...55,995,881
Ensembl chr14:55,991,507...55,995,915
G
H
CIDEB
cell death inducing DFFA like effector b
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,305,187...24,311,435
Ensembl chr14:24,305,187...24,311,430
G
N
Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:7,635,356...7,637,300
Ensembl chrNW_004624813:7,635,808...7,637,169
G
G
CLEC14A
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:15,047,320...15,051,145
Ensembl chr24:15,048,214...15,049,689
G
P
CLEC14A
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:61,825,688...61,827,960
Ensembl chr 7:61,826,015...61,832,808
G
S
Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,112,163...12,115,836
Ensembl chrNW_004936494:12,114,371...12,115,787
G
D
CLEC14A
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:16,609,425...16,612,772
Ensembl chr 8:16,611,240...16,612,709
G
B
CLEC14A
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,014,672...19,018,551
Ensembl chr14:37,374,493...37,375,965
G
C
Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,819,530...22,823,306
G
R
Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:81,616,414...81,619,556
Ensembl chr 6:75,881,473...75,884,612
G
M
Clec14a
C-type lectin domain family 14, member a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:58,311,506...58,316,044
Ensembl chr12:58,311,506...58,316,076
G
H
CLEC14A
C-type lectin domain containing 14A
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:38,254,000...38,256,093
Ensembl chr14:38,254,000...38,256,093
G
N
Cma1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,021,965...8,024,763
Ensembl chrNW_004624820:8,021,959...8,024,851
G
G
CMA1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692
G
D
CMA1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189
G
B
CMA1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,277,269...5,280,335
Ensembl chr14:23,400,345...23,403,548
G
R
Cma1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,387,351...33,390,133
Ensembl chr15:29,417,451...29,420,233
G
M
Cma1
chymase 1, mast cell
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
G
H
CMA1
chymase 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
G
N
Cmtm5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,185,467...9,188,333
Ensembl chrNW_004624820:9,185,305...9,188,477
G
G
CMTM5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,748,110...23,751,036
Ensembl chr29:23,748,548...23,750,651
G
P
CMTM5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,707,132...75,709,809
Ensembl chr 7:75,701,741...75,710,003
G
S
Cmtm5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:993,755...996,362
Ensembl chrNW_004936722:993,877...996,383
G
D
CMTM5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,625,246...3,627,964
Ensembl chr 8:3,625,309...3,661,444
G
B
CMTM5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,195,460...4,198,422
Ensembl chr14:22,290,354...22,292,592
G
C
Cmtm5
CKLF like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,957,584...36,960,534
Ensembl chrNW_004955409:36,957,584...36,960,534
G
R
Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,382,171...32,385,288
Ensembl chr15:28,412,624...28,415,287
G
M
Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,173,927...55,176,734
Ensembl chr14:55,173,718...55,176,731
G
H
CMTM5
CKLF like MARVEL transmembrane domain containing 5
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,376,771...23,379,772
Ensembl chr14:23,376,773...23,379,772
G
N
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,367,582...1,381,630
Ensembl chrNW_004624820:1,366,384...1,381,099
G
P
COCH
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
G
S
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083
G
D
COCH
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
G
B
COCH
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943
G
C
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,639,274...29,650,389
Ensembl chrNW_004955409:29,639,274...29,650,874
G
R
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,766,485...74,780,504
Ensembl chr 6:69,031,167...69,045,109
G
M
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554
G
H
COCH
cochlin
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065
G
N
Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,451,588...8,458,871
Ensembl chrNW_004624820:8,448,469...8,458,884
G
G
CPNE6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,053,980...1,061,544
Ensembl chr24:1,054,488...1,061,578
G
P
CPNE6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,213,643...75,219,031
Ensembl chr 7:75,213,644...75,219,031
G
S
Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:454,818...462,324
Ensembl chrNW_004936722:454,775...462,990
G
D
CPNE6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,078,240...4,084,744
Ensembl chr 8:4,046,544...4,084,744
G
B
CPNE6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,848,845...4,856,085
Ensembl chr14:22,973,157...22,980,341
G
C
Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,315,353...36,322,646
Ensembl chrNW_004955409:36,315,353...36,322,646
G
R
Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,968,047...32,975,008
Ensembl chr15:28,998,293...29,005,044
G
M
Cpne6
copine VI
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,747,902...55,754,892
Ensembl chr14:55,747,902...55,754,888
G
H
CPNE6
copine 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,070,949...24,078,087
Ensembl chr14:24,070,837...24,078,100
G
G
CTSG
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,518,004...1,521,980
Ensembl chr24:1,518,119...1,520,709
G
D
CTSG
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,483,327...4,485,933
Ensembl chr 8:4,470,577...4,512,628
G
B
CTSG
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,342,517...5,345,218
Ensembl chr14:23,466,265...23,468,960
G
R
Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,901,230...33,907,596
Ensembl chr15:29,931,003...29,937,353
G
M
Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,337,342...56,340,031
Ensembl chr14:56,337,338...56,340,031
G
H
CTSG
cathepsin G
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,573,518...24,576,250
Ensembl chr14:24,573,518...24,576,250
G
N
CUNH14orf119
chromosome unknown C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,441,533...9,445,056
Ensembl chrNW_004624820:9,441,541...9,444,255
G
G
CUNH14orf119
chromosome unknown C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,464,618...23,467,719
G
S
CUNH14orf119
chromosome unknown C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,219,245...1,226,291
Ensembl chrNW_004936722:1,225,863...1,226,291
G
C
CUNH14orf119
chromosome unknown C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,203,604...37,206,853
Ensembl chrNW_004955409:37,203,604...37,206,426
G
N
CUNH14orf93
chromosome unknown C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,524,566...9,548,650
Ensembl chrNW_004624820:9,524,499...9,548,765
G
G
CUNH14orf93
chromosome unknown C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,356,885...23,381,273
Ensembl chr29:23,355,798...23,369,839
G
S
CUNH14orf93
chromosome unknown C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,304,357...1,327,726
Ensembl chrNW_004936722:1,316,789...1,328,059
G
C
CUNH14orf93
chromosome unknown C14orf93 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,290,615...37,315,297
Ensembl chrNW_004955409:37,290,550...37,314,598
G
N
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:9,062,984...9,081,939
Ensembl chrNW_004624825:9,045,163...9,082,634
G
G
DAD1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:22,935,231...22,958,331
Ensembl chr29:22,935,005...22,958,414
G
P
DAD1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,432,040...76,457,403
Ensembl chr 7:76,432,051...76,457,192
G
S
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,678,952...1,698,583
Ensembl chrNW_004936722:1,678,862...1,698,579
G
D
DAD1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:2,963,719...2,984,978
G
B
DAD1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,401,048...3,425,359
Ensembl chr14:21,502,618...21,526,793
G
C
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,670,266...37,688,226
Ensembl chrNW_004955409:37,670,274...37,688,391
G
R
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,647,326...31,667,159
Ensembl chr15:27,677,268...27,697,347
G
M
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,472,942...54,491,386
Ensembl chr14:54,472,936...54,491,561
G
H
DAD1
defender against cell death 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,564,907...22,589,224
Ensembl chr14:22,564,907...22,589,224
G
N
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,407,597...8,415,301
Ensembl chrNW_004624820:8,407,596...8,415,295
G
G
DCAF11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,100,974...1,110,283
Ensembl chr24:1,101,653...1,111,965
G
P
DCAF11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,169,701...75,181,137
Ensembl chr 7:75,168,992...75,180,953
G
S
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:414,830...422,722
Ensembl chrNW_004936722:414,831...422,694
G
D
DCAF11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,115,756...4,124,329
Ensembl chr 8:4,116,912...4,123,596
G
B
DCAF11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,890,956...4,900,296
Ensembl chr14:23,015,680...23,024,650
G
C
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,272,184...36,279,985
Ensembl chrNW_004955409:36,272,184...36,279,872
G
R
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,015,370...33,027,407
Ensembl chr15:29,046,826...29,057,669
G
M
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,796,557...55,807,522
Ensembl chr14:55,797,463...55,807,522
G
H
DCAF11
DDB1 and CUL4 associated factor 11
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,114,777...24,125,242
Ensembl chr14:24,114,195...24,125,242
G
N
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,204,627...8,213,512
G
G
DHRS1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,273,717...1,282,761
Ensembl chr24:1,273,659...1,282,812
G
P
DHRS1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,992,120...75,002,154
Ensembl chr 7:74,992,115...75,002,148
G
S
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:255,977...265,980
Ensembl chrNW_004936722:256,192...265,985
G
D
DHRS1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,263,707...4,269,453
Ensembl chr 8:4,263,700...4,270,271
G
B
DHRS1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,066,996...5,076,229
Ensembl chr14:23,190,323...23,199,587
G
C
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,002,576...36,040,595
Ensembl chrNW_004955409:36,002,576...36,009,513
G
R
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,206,449...33,213,776
Ensembl chr15:29,236,522...29,243,838
G
M
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,976,477...55,983,147
Ensembl chr14:55,976,477...55,983,147
G
H
DHRS1
dehydrogenase/reductase 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,290,598...24,299,780
Ensembl chr14:24,290,598...24,299,780
G
G
DHRS2
dehydrogenase/reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:24,015,535...24,022,897
Ensembl chr29:24,016,071...24,022,500
G
D
DHRS2
dehydrogenase/reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,820,269...3,847,217
Ensembl chr 8:3,836,476...3,845,916
G
R
Dhrs2
dehydrogenase/reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,658,855...32,673,591
Ensembl chr15:28,688,940...28,703,644
G
M
Dhrs2
dehydrogenase/reductase member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,459,464...55,478,897
Ensembl chr14:55,459,464...55,478,892
G
H
DHRS2
dehydrogenase/reductase 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,630,115...23,645,639
Ensembl chr14:23,630,115...23,645,639
G
G
DHRS4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:24,170,090...24,185,509
Ensembl chr29:24,169,818...24,185,634
G
P
DHRS4
dehydrogenase/reductase (SDR family) member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,242,121...75,255,594
Ensembl chr 7:75,242,124...75,255,598
G
D
DHRS4
hydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,046,532...4,058,498
Ensembl chr 8:4,046,544...4,084,744
G
B
DHRS4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
Ensembl chr14:22,831,756...22,846,695
G
R
Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,924,482...32,948,103
Ensembl chr15:28,966,553...28,978,127
G
M
Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,715,880...55,727,797
Ensembl chr14:55,716,215...55,727,797
G
H
DHRS4
dehydrogenase/reductase 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,953,770...23,969,279
Ensembl chr14:23,953,734...23,969,279
G
H
DHRS4L1
dehydrogenase/reductase 4 like 1 (pseudogene)
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,007,084...24,051,377
Ensembl chr14:23,969,931...24,051,377 Ensembl chr14:23,969,931...24,051,377 Ensembl chr14:23,969,931...24,051,377
G
H
DHRS4L2
dehydrogenase/reductase 4 like 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,969,874...24,006,408
Ensembl chr14:23,969,874...24,006,408
G
N
Dnaaf2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,069,162...19,077,501
Ensembl chrNW_004624731:19,069,203...19,077,505
G
G
DNAAF2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,665,286...26,674,345
Ensembl chr24:26,665,106...26,674,063
G
P
DNAAF2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,482,189...179,491,136
Ensembl chr 1:179,482,208...179,491,142
G
S
Dnaaf2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:386,806...394,650
Ensembl chrNW_004936583:387,189...394,910
G
B
DNAAF2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800
G
C
Dnaaf2
dynein axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,019,941...13,028,378
Ensembl chrNW_004955409:13,020,313...13,027,849
G
R
Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,397,157...93,406,323
Ensembl chr 6:87,660,821...87,670,199
G
M
Dnaaf2
dynein, axonemal assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,235,861...69,245,203
Ensembl chr12:69,235,861...69,245,203
G
H
DNAAF2
dynein axonemal assembly factor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
G
N
Dorip1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,595,490...23,605,374
G
G
DORIP1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:22,015,251...22,026,008
Ensembl chr24:22,015,206...22,026,001
G
S
Dorip1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,355,562...4,365,470
Ensembl chrNW_004936583:4,355,492...4,363,107
G
B
DORIP1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,514,741...25,524,710
Ensembl chr14:43,843,018...43,852,917
G
C
Dorip1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:17,014,194...17,023,953
Ensembl chrNW_004955409:17,012,125...17,024,784
G
R
Dorip1
dopamine receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,701,651...88,710,204
Ensembl chr 6:82,965,328...82,972,558
G
H
DORIP1
dopamine receptor interacting protein 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:44,897,275...44,907,257
Ensembl chr14:44,897,275...44,907,257
G
N
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:859,554...870,951
Ensembl chrNW_004624820:859,511...868,653
G
P
DTD2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,105,268...68,118,220
Ensembl chr 7:68,106,224...68,116,986
G
S
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:6,047,857...6,057,185
G
D
DTD2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,694,999...10,706,155
Ensembl chr 8:10,696,505...10,706,060
G
B
DTD2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,222,744...12,234,227
Ensembl chr14:30,419,810...30,431,296
G
C
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,151,779...29,160,734
Ensembl chrNW_004955409:29,151,779...29,160,734
G
R
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,185,496...75,191,774
Ensembl chr 6:69,449,614...69,456,427
G
M
Dtd2
D-tyrosyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,035,089...52,053,290
Ensembl chr12:52,035,095...52,053,284
G
H
DTD2
D-aminoacyl-tRNA deacylase 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:31,446,036...31,457,506
Ensembl chr14:31,446,036...31,457,506
G
N
Eapp
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,159,869...2,180,879
Ensembl chrNW_004624838:2,160,036...2,180,597
G
G
EAPP
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,343,214...11,370,069
Ensembl chr24:11,343,140...11,370,112
G
P
EAPP
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,240,209...65,263,201
Ensembl chr 7:65,240,220...65,263,272
G
S
Eapp
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:8,772,660...8,795,052
G
D
EAPP
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,316,239...13,399,221
Ensembl chr 8:13,375,980...13,399,173
G
B
EAPP
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,273,149...15,297,241
Ensembl chr14:33,462,959...33,485,186
G
C
Eapp
E2F associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,383,618...26,411,738
Ensembl chrNW_004955409:26,383,732...26,414,568
G
R
Eapp
E2F-associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734
G
M
Eapp
E2F-associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,717,125...54,743,245
Ensembl chr12:54,717,125...54,742,682
G
H
EAPP
E2F associated phosphoprotein
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:34,515,938...34,539,701
Ensembl chr14:34,515,938...34,539,704
G
M
Ear1
eosinophil-associated, ribonuclease A family, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:44,056,222...44,057,096
Ensembl chr14:44,056,222...44,112,974
G
M
Ear6
eosinophil-associated, ribonuclease A family, member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,091,225...52,092,100
Ensembl chr14:52,091,156...52,092,100
G
G
EDDM3A
epididymal protein 3A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,252,538...21,253,661
Ensembl chr29:21,252,790...21,253,233
G
B
EDDM3A
epididymal protein 3A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,608,955...1,610,069
Ensembl chr14:19,666,172...19,666,615
G
H
EDDM3A
epididymal protein 3A
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,735,946...20,748,380
Ensembl chr14:20,745,887...20,748,380
G
N
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:4,474,966...4,475,352
G
G
EDDM3B
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,272,508...21,275,840
Ensembl chr29:21,274,749...21,275,192
G
P
EDDM3B
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,233,991...78,236,747
Ensembl chr 7:78,233,991...78,236,747
G
S
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:64,405...64,897
G
D
EDDM3B
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,017,182...18,020,521
G
B
EDDM3B
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,630,027...1,632,566
Ensembl chr14:19,688,641...19,689,084
G
R
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025
G
M
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,351,886...51,355,248
Ensembl chr14:51,351,883...51,355,264
G
H
EDDM3B
epididymal protein 3B
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,768,404...20,770,948
Ensembl chr14:20,768,404...20,770,948
G
N
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,200,383...9,206,387
Ensembl chrNW_004624820:9,200,287...9,207,263
G
G
EFS
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,727,820...23,737,585
Ensembl chr29:23,726,245...23,736,157
G
P
EFS
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,720,033...75,731,615
Ensembl chr 7:75,722,183...75,731,610
G
S
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,009,966...1,019,093
Ensembl chrNW_004936722:1,010,904...1,019,334
G
D
EFS
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,600,597...3,612,563
Ensembl chr 8:3,600,589...3,613,947
G
B
EFS
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,174,676...4,185,215
Ensembl chr14:22,270,952...22,278,732
G
C
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,973,522...36,981,079
Ensembl chrNW_004955409:36,973,522...36,981,079
G
R
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,362,401...32,374,490
Ensembl chr15:28,392,187...28,401,902
G
M
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,154,087...55,164,222
Ensembl chr14:55,153,992...55,163,583
G
H
EFS
embryonal Fyn-associated substrate
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,356,406...23,365,172
Ensembl chr14:23,356,403...23,365,752
G
N
Egln3
egl-9 family hypoxia inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,819,719...2,848,094
Ensembl chrNW_004624838:2,819,631...2,847,827
G
P
EGLN3
egl-9 family hypoxia inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,805,513...65,833,536
Ensembl chr 7:65,805,522...65,833,529
G
S
Egln3
egl-9 family hypoxia inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:8,240,272...8,267,487
Ensembl chrNW_004936494:8,238,858...8,267,606
G
D
EGLN3
egl-9 family hypoxia inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:12,873,755...12,901,728
Ensembl chr 8:12,875,387...12,901,709
G
B
EGLN3
egl-9 family hypoxia inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:14,689,398...14,716,301
Ensembl chr14:32,880,324...32,907,241
G
C
Egln3
egl-9 family hypoxia inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,939,933...26,967,156
Ensembl chrNW_004955409:26,939,933...26,967,156
G
R
Egln3
egl-9 family hypoxia-inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:77,385,549...77,411,015
Ensembl chr 6:71,650,297...71,675,766
G
M
Egln3
egl-9 family hypoxia-inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,225,767...54,250,660
Ensembl chr12:54,225,767...54,250,646
G
H
EGLN3
egl-9 family hypoxia inducible factor 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:33,924,227...33,951,074
Ensembl chr14:33,924,227...34,462,774
G
N
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,393,997...8,397,353
Ensembl chrNW_004624820:8,394,408...8,397,353
G
G
EMC9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,124,905...1,127,574
Ensembl chr24:1,124,950...1,127,542
G
P
EMC9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,159,150...75,161,917
Ensembl chr 7:75,159,236...75,161,829
G
S
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:403,208...405,497
Ensembl chrNW_004936722:403,112...407,517
G
D
EMC9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,133,997...4,136,144
Ensembl chr 8:4,134,020...4,136,290
G
B
EMC9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,915,214...4,917,889
Ensembl chr14:23,039,400...23,042,054
G
C
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,257,904...36,262,120
Ensembl chrNW_004955409:36,257,904...36,262,120
G
R
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,041,840...33,046,056
Ensembl chr15:29,071,883...29,076,098
G
M
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,818,976...55,822,832
Ensembl chr14:55,818,973...55,822,759
G
H
EMC9
ER membrane protein complex subunit 9
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,138,965...24,141,591
Ensembl chr14:24,138,959...24,141,591
G
M
Fam177a
family with sequence similarity 177, member A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,171,313...55,188,889
Ensembl chr12:55,171,254...55,188,889
G
P
FAM177A1
family with sequence similarity 177 member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473
G
D
FAM177A1
family with sequence similarity 177 member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,844,565...13,862,619
Ensembl chr 8:13,844,685...13,860,889
G
R
Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,367,780...78,382,703
Ensembl chr 6:72,632,623...72,647,553
G
H
FAM177A1
family with sequence similarity 177 member A1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,044,907...35,083,383
Ensembl chr14:35,045,117...35,116,630
G
N
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040
G
G
FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:22,255,750...22,327,191
Ensembl chr24:22,256,236...22,329,609
G
P
FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685
G
S
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,085,802...4,145,621
G
D
FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994
G
B
FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
G
C
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,751,658...16,809,352
G
R
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:83,127,093...83,180,028
G
M
Fancm
Fanconi anemia, complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832
G
H
FANCM
FA complementation group M
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
G
N
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,791,774...8,812,870
Ensembl chrNW_004624813:8,791,774...8,812,916
G
G
FBXO33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:16,174,116...16,206,955
Ensembl chr24:16,175,882...16,207,155
G
P
FBXO33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,877,189...169,915,856
Ensembl chr 1:169,877,197...169,915,798
G
S
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,930,659...12,969,264
Ensembl chrNW_004936494:12,929,814...12,969,479
G
D
FBXO33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:17,495,795...17,528,389
Ensembl chr 8:17,462,937...17,528,249
G
B
FBXO33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,170,332...20,205,181
Ensembl chr14:38,526,437...38,558,626
G
C
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:21,929,863...21,952,812
Ensembl chrNW_004955409:21,930,071...21,951,068
G
R
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669
G
M
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,247,441...59,268,747
Ensembl chr12:59,247,441...59,266,511
G
H
FBXO33
F-box protein 33
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:39,397,684...39,432,433
Ensembl chr14:39,397,684...39,432,466
G
N
Fitm1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,402,347...8,407,399
Ensembl chrNW_004624820:8,402,347...8,403,663
G
G
FITM1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,116,201...1,118,814
Ensembl chr24:1,117,451...1,119,275
G
P
FITM1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,166,986...75,168,240
Ensembl chr 7:75,166,912...75,168,245
G
S
Fitm1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:410,294...411,680
Ensembl chrNW_004936722:410,294...411,679
G
D
FITM1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,127,148...4,128,779
Ensembl chr 8:4,127,488...4,128,794
G
B
FITM1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,906,504...4,909,119
Ensembl chr14:23,031,818...23,033,459
G
C
Fitm1
fat storage inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,267,121...36,268,462
Ensembl chrNW_004955409:36,267,121...36,268,462
G
R
Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,034,705...33,035,974
Ensembl chr15:29,064,707...29,066,015
G
M
Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,813,131...55,814,409
Ensembl chr14:55,813,074...55,814,411
G
H
FITM1
fat storage inducing transmembrane protein 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,130,659...24,132,847
Ensembl chr14:24,130,659...24,132,849
G
N
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,395,680...23,409,336
G
G
FKBP3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:22,236,032...22,254,905
G
P
FKBP3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,317,558...175,332,705
Ensembl chr 1:175,317,559...175,332,987
G
S
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,146,745...4,162,062
Ensembl chrNW_004936583:4,146,615...4,164,568
G
D
FKBP3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,550,241...22,560,501
Ensembl chr 8:22,550,413...22,560,465
G
B
FKBP3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,732,308...25,750,885
Ensembl chr14:44,060,160...44,078,742
G
C
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,810,934...16,824,380
Ensembl chrNW_004955409:16,810,710...16,824,380
G
R
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
G
M
Fkbp3
FK506 binding protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,109,206...65,120,712
Ensembl chr12:65,109,198...65,120,781
G
H
FKBP3
FKBP prolyl isomerase 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:45,115,599...45,134,481
Ensembl chr14:45,115,599...45,135,319
G
N
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624955:234,289...239,541
Ensembl chrNW_004624955:231,506...239,508
G
G
FOXA1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094
G
P
FOXA1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220
G
S
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:11,529,546...11,535,224
Ensembl chrNW_004936494:11,529,546...11,535,224
G
D
FOXA1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:16,072,629...16,083,105
Ensembl chr 8:16,079,140...16,083,807
G
B
FOXA1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:18,347,284...18,352,705
G
C
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
G
R
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:80,838,380...80,871,195
Ensembl chr 6:75,103,503...75,136,188
G
M
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
G
H
FOXA1
forkhead box A1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059
G
N
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:3,542,767...3,547,180
Ensembl chrNW_004624820:3,543,687...3,545,147
G
P
FOXG1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:70,656,603...70,660,236
Ensembl chr 7:70,658,685...70,660,145
G
S
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:3,738,419...3,740,419
Ensembl chrNW_004936494:3,736,120...3,739,498
G
D
FOXG1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:8,276,300...8,279,785
G
B
FOXG1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
G
C
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:31,672,960...31,674,970
G
R
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,401,582...72,404,392
Ensembl chr 6:66,666,587...66,678,607
G
M
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644
G
H
FOXG1
forkhead box G1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
G
N
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:24,149,780...24,152,409
G
G
FSCB
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:21,611,678...21,614,404
G
P
FSCB
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:174,732,612...174,734,834
G
S
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,707,636...4,710,286
G
D
FSCB
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,004,599...22,033,057
Ensembl chr 8:22,004,789...22,007,425
G
B
FSCB
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,124,746...25,127,510
G
C
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:17,433,213...17,435,957
G
R
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,264,133...88,266,925
G
M
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:64,518,107...64,521,672
Ensembl chr12:64,518,104...64,521,464
G
H
FSCB
fibrous sheath CABYR binding protein
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:44,504,149...44,507,283
Ensembl chr14:44,504,149...44,507,283
G
N
G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,717,602...1,775,175
Ensembl chrNW_004624820:1,715,455...1,774,525
G
P
G2E3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,854,410...68,917,070
Ensembl chr 7:68,852,777...68,916,992
G
S
G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:5,352,126...5,409,648
Ensembl chrNW_004936494:5,352,238...5,409,739
G
D
G2E3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:9,914,276...9,968,798
Ensembl chr 8:9,914,008...9,965,623
G
B
G2E3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,338,212...11,398,545
Ensembl chr14:29,484,584...29,539,430
G
C
G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,908,075...29,965,331
Ensembl chrNW_004955409:29,908,148...29,945,497
G
R
G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,498,801...74,530,703
Ensembl chr 6:68,764,185...68,793,924
G
M
G2e3
G2/M-phase specific E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,395,013...51,423,769
Ensembl chr12:51,394,844...51,423,769
G
H
G2E3
G2/M-phase specific E3 ubiquitin protein ligase
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,559,158...30,620,064
Ensembl chr14:30,559,158...30,620,064
G
N
Gemin2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,577,291...8,593,625
Ensembl chrNW_004624813:8,577,158...8,593,625
G
G
GEMIN2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:15,886,441...15,909,137
G
P
GEMIN2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,676,152...169,701,475
Ensembl chr 1:169,676,156...169,701,481
G
S
Gemin2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,717,358...12,737,019
Ensembl chrNW_004936494:12,717,268...12,740,193
G
D
GEMIN2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:17,305,884...17,328,698
Ensembl chr 8:17,305,907...17,328,582
G
B
GEMIN2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,884,100...19,906,823
Ensembl chr14:38,240,379...38,261,925
G
C
Gemin2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,142,082...22,153,699
Ensembl chrNW_004955409:22,142,078...22,153,698
G
R
Gemin2
gem (nuclear organelle) associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153
G
M
Gemin2
gem nuclear organelle associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,060,177...59,075,256
Ensembl chr12:59,060,179...59,075,256
G
H
GEMIN2
gem nuclear organelle associated protein 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:39,114,323...39,136,973
Ensembl chr14:39,114,285...39,136,973
G
M
Gm527
predicted gene 527
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:64,964,685...64,971,365
Ensembl chr12:64,964,680...64,971,366
G
N
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,312,253...8,319,585
Ensembl chrNW_004624820:8,312,386...8,319,799
G
G
GMPR2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,215,137...1,222,219
Ensembl chr24:1,215,357...1,225,716
G
P
GMPR2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,060,680...75,070,079
Ensembl chr 7:75,060,676...75,070,084
G
S
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:323,917...330,648
G
D
GMPR2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,213,238...4,220,740
Ensembl chr 8:4,213,373...4,220,740
G
B
GMPR2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,008,664...5,015,461
Ensembl chr14:23,132,227...23,139,044
G
C
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,166,129...36,173,247
Ensembl chrNW_004955409:36,166,129...36,173,245
G
R
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,135,455...33,144,923
Ensembl chr15:29,165,783...29,174,935
G
M
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,909,692...55,935,602
Ensembl chr14:55,909,398...55,916,657
G
H
GMPR2
guanosine monophosphate reductase 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,232,622...24,239,242
Ensembl chr14:24,232,422...24,239,242
G
N
Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:839,284...840,276
Ensembl chrNW_004624820:839,284...840,276
G
P
GPR33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895
G
S
Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:6,074,140...6,078,747
Ensembl chrNW_004936494:6,074,140...6,078,747
G
D
GPR33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,718,470...10,720,029
Ensembl chr 8:10,719,010...10,720,029
G
B
GPR33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,259,566...12,264,971
Ensembl chr14:30,456,788...30,457,789
G
C
Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,124,200...29,130,823
Ensembl chrNW_004955409:29,124,200...29,130,823
G
M
Gpr33
G protein-coupled receptor 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,069,786...52,074,887
Ensembl chr12:52,069,786...52,074,846
G
H
GPR33
G protein-coupled receptor 33
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:31,482,875...31,488,039
Ensembl chr14:31,482,875...31,488,039
G
R
Gpr33-ps1
G protein-coupled receptor 33, pseudogene 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,209,776...75,210,781
Ensembl chr 6:69,474,435...69,475,440
G
G
GZMB
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,574,452...1,577,861
Ensembl chr24:1,574,453...1,577,798
G
P
GZMB
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790
G
D
GZMB
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,508,718...4,511,824
Ensembl chr 8:4,470,577...4,512,628
G
B
GZMB
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,399,888...5,403,200
Ensembl chr14:23,523,619...23,526,931
G
R
Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:34,459,007...34,462,469
Ensembl chr15:30,173,603...30,346,814
G
M
Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,496,293...56,499,791
Ensembl chr14:56,496,295...56,499,717
G
H
GZMB
granzyme B
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,630,954...24,634,190
Ensembl chr14:24,630,954...24,634,267
G
M
Gzme
granzyme E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,355,076...56,358,082
Ensembl chr14:56,355,083...56,358,082
G
R
Gzmf
granzyme F
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,975,543...33,997,505
Ensembl chr15:30,007,267...30,018,649
G
G
GZMH
granzyme H
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,545,819...1,549,376
Ensembl chr24:1,545,748...1,549,477
G
B
GZMH
granzyme H
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,375,775...5,379,021
Ensembl chr14:23,499,513...23,502,674
G
H
GZMH
granzyme H
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,606,480...24,609,685
Ensembl chr14:24,606,480...24,609,699
G
N
Haus4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,569,134...9,578,195
Ensembl chrNW_004624820:9,570,971...9,578,464
G
G
HAUS4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,308,144...23,322,864
G
P
HAUS4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,085,613...76,097,954
Ensembl chr 7:76,085,608...76,097,953
G
S
Haus4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,352,070...1,378,497
Ensembl chrNW_004936722:1,351,990...1,362,333
G
B
HAUS4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,766,343...3,777,591
Ensembl chr14:21,865,257...21,875,756
G
C
Haus4
HAUS augmin like complex subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,342,144...37,351,434
Ensembl chrNW_004955409:37,343,712...37,353,562
G
R
Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,964,555...31,976,853
Ensembl chr15:27,994,532...28,005,938
G
M
Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,779,242...54,792,446
Ensembl chr14:54,779,242...54,792,073
G
H
HAUS4
HAUS augmin like complex subunit 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,946,228...22,957,090
Ensembl chr14:22,946,228...22,957,161
G
N
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:891,562...1,022,586
Ensembl chrNW_004624820:907,396...1,021,455
G
P
HEATR5A
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,143,597...68,259,087
Ensembl chr 7:68,211,624...68,259,794
G
S
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:5,902,543...6,024,106
Ensembl chrNW_004936494:5,903,892...6,008,582
G
D
HEATR5A
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,561,723...10,673,506
Ensembl chr 8:10,562,425...10,658,597
G
B
HEATR5A
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,070,011...12,230,065
Ensembl chr14:30,267,861...30,395,893
G
C
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,208,050...29,312,752
Ensembl chrNW_004955409:29,208,050...29,312,752
G
R
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,057,226...75,155,207
Ensembl chr 6:69,321,869...69,419,773
G
M
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,922,654...52,018,154
Ensembl chr12:51,922,654...52,018,104
G
H
HEATR5A
HEAT repeat containing 5A
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:31,291,788...31,420,550
Ensembl chr14:31,291,788...31,420,550
G
N
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,097,323...1,196,556
Ensembl chrNW_004624820:1,097,463...1,196,499
G
P
HECTD1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,318,167...68,422,403
Ensembl chr 7:68,318,417...68,422,394
G
S
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:5,761,801...5,853,673
Ensembl chrNW_004936494:5,758,347...5,851,952
G
D
HECTD1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,399,183...10,493,074
Ensembl chr 8:10,400,604...10,491,247
G
B
HECTD1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,871,973...11,979,548
Ensembl chr14:30,070,567...30,176,915
G
C
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,373,572...29,470,623
Ensembl chrNW_004955409:29,373,572...29,470,623
G
R
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,916,803...75,003,408
Ensembl chr 6:69,181,436...69,268,053
G
M
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,790,504...51,876,540
Ensembl chr12:51,790,505...51,876,319
G
H
HECTD1
HECT domain E3 ubiquitin protein ligase 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:31,100,117...31,207,793
Ensembl chr14:31,100,117...31,207,804
G
N
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,198,387...7,276,936
Ensembl chrNW_004624825:7,205,292...7,276,889
G
G
HNRNPC
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,677,871...21,737,607
Ensembl chr29:21,678,559...21,731,430
G
P
HNRNPC
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,921,098...77,978,550
Ensembl chr 7:77,921,145...77,973,078
G
S
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:368,041...425,967
G
B
HNRNPC
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,022,280...2,083,215
G
C
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,949,975...2,002,297
Ensembl chrNW_004955550:1,949,975...2,002,297
G
R
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,253,098...27,282,779
Ensembl chr15:24,779,450...24,809,183
G
M
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,310,834...52,341,462
Ensembl chr14:52,310,834...52,341,485
G
H
HNRNPC
heterogeneous nuclear ribonucleoprotein C
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
G
N
Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,263,032...9,274,721
G
G
HOMEZ
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,647,513...23,666,201
Ensembl chr29:23,644,545...23,658,977
G
P
HOMEZ
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,789,184...75,798,027
Ensembl chr 7:75,789,185...75,798,026
G
S
Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,069,918...1,085,422
G
D
HOMEZ
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,545,434...3,558,923
Ensembl chr 8:3,545,472...3,558,440
G
B
HOMEZ
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,093,357...4,106,323
Ensembl chr14:22,188,881...22,200,496
G
C
Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,022,482...37,040,420
G
R
Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,292,897...32,309,564
Ensembl chr15:28,320,819...28,339,745
G
M
Homez
homeodomain leucine zipper-encoding gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,090,193...55,109,285
Ensembl chr14:55,090,193...55,108,418
G
H
HOMEZ
homeobox and leucine zipper encoding
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,272,422...23,286,132
Ensembl chr14:23,272,422...23,299,796
G
N
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,188,709...9,192,180
Ensembl chrNW_004624820:9,188,612...9,191,990
G
G
IL25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,742,377...23,747,902
Ensembl chr29:23,744,449...23,747,176
G
P
IL25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355
G
S
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:997,476...1,000,881
Ensembl chrNW_004936722:996,960...1,003,201
G
D
IL25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043
G
B
IL25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,191,888...4,195,043
Ensembl chr14:22,286,347...22,289,498
G
C
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,960,902...36,964,038
Ensembl chrNW_004955409:36,961,398...36,964,038
G
R
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,378,750...32,382,141
Ensembl chr15:28,408,842...28,411,893
G
M
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,170,152...55,173,294
Ensembl chr14:55,170,152...55,173,294
G
H
IL25
interleukin 25
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,372,809...23,376,403
Ensembl chr14:23,372,809...23,376,403
G
N
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,269,909...1,272,849
Ensembl chrNW_004624838:1,271,100...1,272,764
G
G
INSM2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:12,340,659...12,343,663
Ensembl chr24:12,340,864...12,342,570
G
P
INSM2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,372,361...64,378,366
Ensembl chr 7:64,374,823...64,376,495
G
S
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,645,568...9,648,449
Ensembl chrNW_004936494:9,645,673...9,647,361
G
D
INSM2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:14,217,694...14,220,661
Ensembl chr 8:14,217,785...14,219,458
G
B
INSM2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,287,866...16,290,884
G
C
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,584,543...25,586,025
Ensembl chrNW_004955409:25,584,904...25,585,998
G
R
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,973,861...72,976,453
G
M
Insm2
insulinoma-associated 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,646,212...55,648,818
Ensembl chr12:55,646,212...55,648,871
G
H
INSM2
INSM transcriptional repressor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,534,164...35,537,054
Ensembl chr14:35,534,164...35,537,054
G
N
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,352,513...8,361,282
Ensembl chrNW_004624820:8,352,493...8,361,282
G
G
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,165,892...1,174,660
Ensembl chr24:1,162,219...1,174,487
G
P
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,103,971...75,110,027
Ensembl chr 7:75,100,273...75,110,446
G
P
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,109,844...75,118,739
Ensembl chr 7:75,110,082...75,118,733
G
S
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:359,741...370,514
Ensembl chrNW_004936722:360,250...373,400
G
D
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,171,525...4,180,666
Ensembl chr 8:4,171,527...4,181,151
G
B
IPO4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,956,456...4,965,305
Ensembl chr14:23,079,910...23,088,610
G
C
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,214,704...36,223,714
Ensembl chrNW_004955409:36,214,704...36,223,714
G
R
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,087,321...33,097,241
Ensembl chr15:29,117,365...29,127,285
G
M
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,862,857...55,873,321
Ensembl chr14:55,862,857...55,873,414
G
H
IPO4
importin 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,180,219...24,188,816
Ensembl chr14:24,180,219...24,188,869
G
N
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,369,830...8,376,593
Ensembl chrNW_004624820:8,370,289...8,376,950
G
G
IRF9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,146,116...1,151,622
Ensembl chr24:1,146,618...1,151,546
G
P
IRF9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,133,800...75,139,641
Ensembl chr 7:75,126,622...75,139,640
G
S
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:380,193...385,887
Ensembl chrNW_004936722:380,572...384,372
G
D
IRF9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,152,146...4,157,201
G
B
IRF9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,937,068...4,942,870
Ensembl chr14:23,061,990...23,067,824
G
C
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,233,633...36,239,916
Ensembl chrNW_004955409:36,234,077...36,239,500
G
R
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,065,422...33,071,881
Ensembl chr15:29,095,789...29,101,236
G
M
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,841,442...55,847,487
Ensembl chr14:55,841,028...55,847,487
G
H
IRF9
interferon regulatory factor 9
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043
G
N
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,000,864...9,010,700
Ensembl chrNW_004624820:9,000,833...9,009,517
G
G
JPH4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,939,262...23,949,646
Ensembl chr29:23,940,858...23,948,322
G
P
JPH4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,522,349...75,532,983
Ensembl chr 7:75,522,630...75,532,982
G
S
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:842,324...851,190
Ensembl chrNW_004936722:841,816...851,135
G
D
JPH4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,793,413...3,803,831
Ensembl chr 8:3,794,734...3,802,082
G
B
JPH4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,386,487...4,397,552
Ensembl chr14:22,479,813...22,490,924
G
C
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,785,003...36,795,196
Ensembl chrNW_004955409:36,785,003...36,795,196
G
R
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,549,536...32,558,859
Ensembl chr15:28,571,568...28,587,573
G
M
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,344,283...55,354,392
Ensembl chr14:55,344,283...55,354,392
G
H
JPH4
junctophilin 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,568,038...23,578,790
Ensembl chr14:23,568,038...23,578,790
G
N
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,074,069...8,084,817
Ensembl chrNW_004624820:8,075,413...8,084,232
G
G
KHNYN
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,412,264...1,420,960
Ensembl chr24:1,413,306...1,419,852
G
P
KHNYN
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,854,209...74,872,491
Ensembl chr 7:74,854,379...74,874,882
G
S
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:116,025...124,890
Ensembl chrNW_004936722:116,611...124,832
G
D
KHNYN
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,402,719...4,411,688
Ensembl chr 8:4,403,201...4,411,598
G
B
KHNYN
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,205,650...5,216,436
Ensembl chr14:23,329,932...23,340,966
G
C
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,871,214...35,880,233
Ensembl chrNW_004955409:35,872,087...35,879,565
G
R
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,335,290...33,349,553
Ensembl chr15:29,365,260...29,376,967
G
M
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,122,269...56,136,237
Ensembl chr14:56,122,404...56,136,232
G
H
KHNYN
KH and NYN domain containing
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,423,165...24,441,843
Ensembl chr14:24,429,286...24,441,843
G
N
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,977,647...19,027,799
Ensembl chrNW_004624731:18,977,656...19,024,212
G
G
KLHDC1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,742,309...26,805,928
G
P
KLHDC1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,540,222...179,605,556
Ensembl chr 1:179,540,547...179,605,628
G
S
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:294,200...342,289
Ensembl chrNW_004936583:294,799...341,396
G
D
KLHDC1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,305,675...26,347,638
Ensembl chr 8:26,305,531...26,347,407
G
B
KLHDC1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,272,009...30,334,693
Ensembl chr14:48,580,779...48,642,724
G
C
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,914,446...12,970,266
Ensembl chrNW_004955409:12,912,303...12,970,474
G
R
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,406,226...93,501,475
Ensembl chr 6:87,712,772...87,765,424
G
M
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,274,529...69,331,420
Ensembl chr12:69,287,950...69,331,406
G
H
KLHDC1
kelch domain containing 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,693,120...49,753,150
Ensembl chr14:49,693,105...49,753,150
G
N
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,935,841...18,973,879
Ensembl chrNW_004624731:18,962,888...18,974,096
G
G
KLHDC2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,816,634...26,834,057
Ensembl chr24:26,816,842...26,833,870
G
P
KLHDC2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,609,026...179,623,168
Ensembl chr 1:179,604,921...179,633,156
G
S
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:256,360...269,131
Ensembl chrNW_004936583:256,394...268,998
G
D
KLHDC2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,353,986...26,365,077
Ensembl chr 8:26,353,871...26,364,914
G
B
KLHDC2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,356,506...30,372,018
Ensembl chr14:48,668,025...48,679,105
G
C
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,901,892...12,910,562
Ensembl chrNW_004955409:12,901,892...12,910,562
G
R
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,512,981...93,552,809
Ensembl chr 6:87,777,183...87,804,187
G
M
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,343,455...69,357,461
Ensembl chr12:69,343,455...69,357,461
G
H
KLHDC2
kelch domain containing 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,768,153...49,786,385
Ensembl chr14:49,768,130...49,786,385
G
N
Klhl28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,543,088...23,586,648
Ensembl chrNW_004624731:23,557,154...23,586,673
G
G
KLHL28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:22,041,491...22,078,788
Ensembl chr24:22,041,385...22,063,957
G
P
KLHL28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,164,028...175,199,177
Ensembl chr 1:175,164,040...175,178,727
G
S
Klhl28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,299,148...4,333,973
Ensembl chrNW_004936583:4,319,988...4,333,973
G
D
KLHL28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,387,057...22,420,491
Ensembl chr 8:22,391,451...22,405,141
G
B
KLHL28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,540,348...25,578,933
Ensembl chr14:43,869,220...43,905,989
G
C
Klhl28
kelch like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,968,099...16,999,697
Ensembl chrNW_004955409:16,984,039...16,999,697
G
R
Klhl28
kelch-like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,723,624...88,755,072
Ensembl chr 6:82,990,945...83,016,164
G
M
Klhl28
kelch-like 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:64,985,603...65,012,365
Ensembl chr12:64,985,607...65,012,308
G
H
KLHL28
kelch like family member 28
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:44,924,324...44,961,947
Ensembl chr14:44,924,324...45,042,322
G
N
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,554,472...18,592,944
Ensembl chrNW_004624731:18,554,457...18,597,796
G
G
L2HGDH
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:27,314,306...27,383,379
Ensembl chr24:27,314,283...27,383,342
G
P
L2HGDH
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:180,020,863...180,069,146
G
S
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936495:15,238,726...15,278,840
Ensembl chrNW_004936495:15,238,738...15,278,840
G
D
L2HGDH
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,721,501...26,760,411
Ensembl chr 8:26,723,309...26,760,984
G
B
L2HGDH
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
G
C
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
G
R
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,900,427...93,941,534
Ensembl chr 6:88,164,440...88,205,578
G
M
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,737,210...69,771,648
Ensembl chr12:69,737,207...69,771,647
G
H
L2HGDH
L-2-hydroxyglutarate dehydrogenase
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
G
H
LINC01588
long intergenic non-protein coding RNA 1588
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,981,669...50,007,520
Ensembl chr14:49,927,213...50,105,121
G
H
LINC01599
long intergenic non-protein coding RNA 1599
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:50,007,313...50,105,043
Ensembl chr14:49,927,213...50,105,121
G
P
LOC100154047
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,761,602...74,772,950
G
P
LOC100510915
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,528,181...77,529,122
Ensembl chr 7:77,528,181...77,529,122
G
P
LOC100512910
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,592,790...77,594,408
Ensembl chr 7:77,592,790...77,593,731
G
P
LOC100517834
olfactory receptor 10G2-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,547,096...77,548,227
G
P
LOC100626020
ribonuclease 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,092,656...78,096,093
G
P
LOC100736765
myosin-6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644
G
B
LOC100976049
dehydrogenase/reductase SDR family member 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,457,316...4,466,551
Ensembl chr14:22,551,645...22,558,926
G
B
LOC100978529
myosin-7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
G
B
LOC100979193
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,076,270...5,085,596
Ensembl chr14:23,199,608...23,208,877
G
B
LOC100980742
putative uncharacterized protein encoded by LINC01599
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,671,031...30,680,109
G
B
LOC100980776
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,474,364...2,475,305
Ensembl chr14:20,591,011...20,591,952
G
B
LOC100981889
non-secretory ribonuclease
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,759,482...1,760,873
Ensembl chr14:19,841,364...19,841,849
G
B
LOC100987236
signal recognition particle subunit SRP54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151
G
B
LOC100988821
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,969,308...1,970,494
Ensembl chr14:20,051,042...20,052,130
G
B
LOC100992784
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,386,394...2,387,532
Ensembl chr14:20,462,044...20,462,985
G
B
LOC100993494
olfactory receptor 10G2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,418,780...2,419,723
G
N
LOC101697223
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,156,562...7,157,628
Ensembl chrNW_004624825:7,156,693...7,157,628
G
N
LOC101702050
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,587,875...7,588,816
Ensembl chrNW_004624825:7,587,875...7,588,816
G
N
LOC101702732
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,646,103...7,647,044
G
S
LOC101961792
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:341,227...342,336
Ensembl chrNW_004936880:341,227...342,162
G
S
LOC101963005
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:339,510...344,928
Ensembl chrNW_004936722:339,500...342,993
G
S
LOC101964730
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:717,841...718,782
Ensembl chrNW_004936880:717,841...718,782
G
S
LOC101965130
signal recognition particle 54 kDa protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955 Ensembl chrNW_004936494:9,227,321...9,246,955
G
S
LOC101972165
myosin-7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129
G
S
LOC101973872
bcl-2-like protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,039,970...1,044,942
Ensembl chrNW_004936722:1,053,326...1,059,477 Ensembl chrNW_004936722:1,053,326...1,059,477
G
S
LOC101974914
olfactory receptor 1509
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936976:415,720...416,646
Ensembl chrNW_004936976:415,720...416,646
G
C
LOC102009550
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,921,231...1,923,589
Ensembl chrNW_004955550:1,921,231...1,923,223
G
C
LOC102015352
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,295,101...2,296,367
G
C
LOC102015989
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,352,164...2,353,090
Ensembl chrNW_004955550:2,352,164...2,353,090
G
P
LOC102163838
non-secretory ribonuclease-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,179,285...78,180,221
G
G
LOC103228700
dehydrogenase/reductase SDR family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,020,086...1,032,242
G
G
LOC103229896
putative uncharacterized protein encoded by LINC01599
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:27,145,235...27,156,062
G
G
LOC103231361
ribonuclease pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,312,858...21,314,712
Ensembl chr29:21,313,095...21,313,553
G
G
LOC103231380
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,625,166...21,626,876
G
G
LOC103231392
olfactory receptor 10G3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:22,026,778...22,043,817
Ensembl chr29:22,027,035...22,027,976
G
G
LOC103231435
olfactory receptor 4E2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:22,087,016...22,089,274
Ensembl chr29:22,087,726...22,088,667
G
G
LOC103231469
polyadenylate-binding protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,692,252...23,697,882
Ensembl chr29:23,679,736...23,686,349 Ensembl chr29:23,679,736...23,686,349
G
G
LOC103231478
myosin-6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,753,251...23,780,822
Ensembl chr29:23,753,309...23,778,107
G
G
LOC103231480
myosin-7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771
G
R
LOC103693823
epididymal secretory protein E3-beta-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
G
D
LOC106559796
uncharacterized LOC106559796
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,024,375...18,025,871
G
P
LOC110261607
olfactory receptor 5AU1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,992,961...77,998,062
Ensembl chr 7:77,996,783...77,997,718
G
G
LOC119620302
olfactory receptor 10G2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
G
D
LOC475395
ribonuclease pancreatic-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,034,337...18,065,925
Ensembl chr15:18,037,298...18,066,333
G
D
LOC475399
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,239,810...18,299,065
G
D
LOC480264
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,200,466...4,201,945
Ensembl chr 8:4,200,472...4,201,950
G
D
LOC607014
uncharacterized protein C14orf119 homolog
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr33:16,805,934...16,806,688
G
N
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:10,930,009...11,196,036
Ensembl chrNW_004624813:11,049,888...11,196,095
G
G
LRFN5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:18,421,057...18,712,096
Ensembl chr24:18,568,568...18,712,609
G
P
LRFN5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:171,906,130...172,177,726
Ensembl chr 1:171,906,198...172,177,720
G
S
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:14,908,783...15,155,797
Ensembl chrNW_004936494:15,138,854...15,156,555
G
D
LRFN5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:19,365,786...19,602,551
Ensembl chr 8:19,367,570...19,602,185
G
B
LRFN5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,185,289...22,480,641
Ensembl chr14:40,676,278...40,814,212
G
C
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:19,710,527...19,969,984
Ensembl chrNW_004955409:19,710,305...19,856,123
G
R
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815
G
M
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:61,569,356...61,913,554
Ensembl chr12:61,569,936...61,905,128
G
H
LRFN5
leucine rich repeat and fibronectin type III domain containing 5
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:41,606,876...41,904,549
Ensembl chr14:41,606,876...41,904,549
G
N
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,645,954...9,652,296
Ensembl chrNW_004624820:9,645,954...9,652,289
G
G
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,236,863...23,243,192
Ensembl chr29:23,236,539...23,242,638
G
P
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,149,304...76,159,397
Ensembl chr 7:76,149,307...76,158,891
G
S
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,421,396...1,427,439
Ensembl chrNW_004936722:1,419,259...1,427,497
G
D
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,208,710...3,214,888
Ensembl chr 8:3,208,269...3,382,311
G
B
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936
G
C
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,413,471...37,419,485
Ensembl chrNW_004955409:37,412,778...37,419,734
G
R
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,891,358...31,897,530
Ensembl chr15:27,920,259...27,927,505
G
M
Lrp10
low-density lipoprotein receptor-related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,701,260...54,707,749
Ensembl chr14:54,701,594...54,708,954
G
H
LRP10
LDL receptor related protein 10
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,871,740...22,881,713
Ensembl chr14:22,871,740...22,881,713
G
N
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,091,909...19,101,691
Ensembl chrNW_004624731:19,090,334...19,101,254
G
G
LRR1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,643,136...26,654,471
Ensembl chr24:26,643,486...26,657,364
G
P
LRR1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,461,399...179,475,337
Ensembl chr 1:179,462,247...179,475,334
G
S
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:407,360...416,226
Ensembl chrNW_004936583:407,481...416,239
G
D
LRR1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,229,293...26,241,617
Ensembl chr 8:26,229,018...26,240,716
G
B
LRR1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,176,924...30,192,847
Ensembl chr14:48,486,914...48,502,794
G
C
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,039,029...13,048,038
G
R
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,379,159...93,387,950
Ensembl chr 6:87,643,217...87,651,894
G
M
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,215,588...69,225,786
Ensembl chr12:69,215,588...69,225,783
G
H
LRR1
leucine rich repeat protein 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,598,940...49,614,672
Ensembl chr14:49,598,761...49,614,672
G
N
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,187,496...8,196,381
Ensembl chrNW_004624820:8,187,496...8,189,562
G
G
LTB4R
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,294,453...1,301,113
Ensembl chr24:1,298,729...1,299,790
G
P
LTB4R
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,972,723...74,978,266
Ensembl chr 7:74,974,308...74,975,357
G
S
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:232,320...233,802
G
D
LTB4R
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,282,924...4,286,869
Ensembl chr 8:4,285,323...4,286,534
G
B
LTB4R
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,088,907...5,094,571
Ensembl chr14:23,215,469...23,216,527
G
C
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,984,757...35,991,492
Ensembl chrNW_004955409:35,984,933...35,985,976
G
R
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,233,120...33,235,636
G
H
LTB4R
leukotriene B4 receptor
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,311,502...24,318,036
Ensembl chr14:24,311,450...24,318,036
G
M
Ltb4r1
leukotriene B4 receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,002,154...56,005,951
Ensembl chr14:56,003,419...56,005,951
G
N
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,192,441...8,196,472
Ensembl chrNW_004624820:8,192,441...8,196,375
G
G
LTB4R2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,292,283...1,298,723
Ensembl chr24:1,293,587...1,294,756
G
P
LTB4R2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,978,871...74,983,811
Ensembl chr 7:74,978,876...74,983,768
G
S
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:239,811...242,050
G
D
LTB4R2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,278,047...4,282,326
Ensembl chr 8:4,280,869...4,281,948
G
C
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,989,425...35,991,492
Ensembl chrNW_004955409:35,989,425...35,991,492
G
R
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,228,634...33,230,453
Ensembl chr15:29,259,240...29,260,316
G
M
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,995,379...56,001,523
Ensembl chr14:55,998,885...56,002,595
G
H
LTB4R2
leukotriene B4 receptor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,310,140...24,312,038
Ensembl chr14:24,305,734...24,312,053
G
N
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:508,660...527,306
Ensembl chrNW_004624838:508,732...528,161
G
G
MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:13,100,914...13,123,017
Ensembl chr24:13,102,520...13,122,977
G
P
MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:63,659,223...63,684,545
Ensembl chr 7:63,659,232...63,687,552
G
S
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:10,315,416...10,338,893
Ensembl chrNW_004936494:10,313,442...10,338,950
G
D
MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:14,883,317...14,908,664
Ensembl chr 8:14,886,638...14,908,610
G
B
MBIP
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,052,270...17,074,609
Ensembl chr14:35,231,398...35,253,746
G
C
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:24,821,884...24,848,125
Ensembl chrNW_004955409:24,821,884...24,848,125
G
R
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374
G
M
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,375,091...56,392,681
Ensembl chr12:56,375,088...56,392,679
G
H
MBIP
MAP3K12 binding inhibitory protein 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:36,298,564...36,320,637
Ensembl chr14:36,298,564...36,320,637
G
N
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:20,951,651...21,760,267
Ensembl chrNW_004624731:20,951,954...21,754,936
G
G
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:23,853,710...24,705,276
Ensembl chr24:23,856,533...24,318,531
G
P
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:176,770,045...177,595,012
Ensembl chr 1:176,770,071...177,593,876
G
S
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:2,048,655...2,804,135
Ensembl chrNW_004936583:2,048,733...2,804,135
G
D
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:23,827,284...24,608,003
Ensembl chr 8:23,832,475...24,607,866
G
B
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:27,434,904...28,274,969
Ensembl chr14:45,752,214...46,583,991
G
C
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:14,684,252...15,449,388
Ensembl chrNW_004955409:14,684,611...15,449,388
G
R
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:90,482,687...91,346,784
Ensembl chr 6:84,761,941...85,608,126
G
M
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:66,512,832...67,269,323
Ensembl chr12:66,512,834...67,269,323
G
H
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:46,839,623...47,675,605
Ensembl chr14:46,840,092...47,675,605
G
P
MDP1
magnesium dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,087,443...75,088,944
Ensembl chr 7:75,087,468...75,089,227
G
B
MDP1
magnesium dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,987,859...4,992,300
Ensembl chr14:23,112,062...23,116,606
G
C
Mdp1
magnesium dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,183,114...36,185,184
Ensembl chrNW_004955409:36,183,119...36,185,178
G
R
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,118,944...33,121,817
Ensembl chr15:29,148,994...29,151,905
G
M
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,895,346...55,897,908
Ensembl chr14:55,895,336...55,897,965
G
H
MDP1
magnesium dependent phosphatase 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,213,943...24,216,066
Ensembl chr14:24,213,943...24,216,070
G
N
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:6,986,277...6,993,324
Ensembl chrNW_004624825:6,986,318...6,995,369
G
G
METTL17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,463,422...21,470,502
Ensembl chr29:21,463,612...21,470,699
G
P
METTL17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,138,237...78,145,322
Ensembl chr 7:78,138,233...78,145,331
G
S
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:200,355...208,394
Ensembl chrNW_004936880:200,396...207,817
G
D
METTL17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,094,731...18,099,161
G
B
METTL17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,804,655...1,811,771
Ensembl chr14:19,886,675...19,893,901
G
C
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,747,234...1,755,136
Ensembl chrNW_004955550:1,747,994...1,756,790
G
R
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
G
M
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,122,375...52,129,325
Ensembl chr14:52,122,299...52,130,496
G
H
METTL17
methyltransferase like 17
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,989,980...20,997,035
Ensembl chr14:20,989,973...20,997,035
G
N
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,513,481...7,527,716
Ensembl chrNW_004624825:7,513,481...7,527,695
G
G
METTL3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,967,309...21,981,251
Ensembl chr29:21,963,982...21,981,579
G
P
METTL3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,661,945...77,679,459
Ensembl chr 7:77,662,058...77,695,934
G
S
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:646,835...661,312
Ensembl chrNW_004936880:644,079...661,544
G
D
METTL3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,528,755...18,546,303
Ensembl chr15:18,528,772...18,546,531
G
B
METTL3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,315,868...2,329,460
Ensembl chr14:20,392,665...20,405,906
G
C
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,211,270...2,227,715
Ensembl chrNW_004955550:2,211,270...2,227,715
G
R
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,476,659...27,491,134
Ensembl chr15:25,003,172...25,014,041
G
M
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,532,298...52,548,555
Ensembl chr14:52,532,298...52,542,585
G
H
METTL3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,498,138...21,511,340
Ensembl chr14:21,498,133...21,511,342
G
N
Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,080,986...19,082,887
Ensembl chrNW_004624731:19,081,110...19,082,453
G
G
MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,660,554...26,663,264
Ensembl chr24:26,661,049...26,662,392
G
P
MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,478,464...179,479,804
Ensembl chr 1:179,477,992...179,479,801
G
S
Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:396,787...399,697
Ensembl chrNW_004936583:398,190...399,533
G
D
MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,244,894...26,247,960
Ensembl chr 8:26,245,407...26,246,747
G
B
MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,199,011...30,201,566
G
C
Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,029,578...13,032,406
Ensembl chrNW_004955409:13,030,569...13,031,912
G
R
Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,392,416...93,394,905
Ensembl chr 6:87,656,349...87,658,177
G
M
Mgat2
mannoside acetylglucosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,230,932...69,233,547
Ensembl chr12:69,230,931...69,233,544
G
H
MGAT2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
G
N
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,650,615...8,776,264
G
G
MIA2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:15,997,817...16,127,881
G
P
MIA2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,777,581...169,868,308
G
S
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,805,990...12,911,754
G
D
MIA2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:17,390,738...17,482,421
G
B
MIA2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,006,513...20,123,814
Ensembl chr14:38,361,828...38,513,998
G
R
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211
G
M
Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,142,368...59,237,006
Ensembl chr12:59,142,585...59,238,369
G
H
MIA2
MIA SH3 domain ER export factor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:39,233,915...39,388,522
Ensembl chr14:39,230,231...39,388,513
G
N
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624955:24,761...201,529
G
G
MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:13,999,908...14,399,038
Ensembl chr24:13,999,938...14,359,882
G
P
MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,517,130...62,796,046
Ensembl chr 7:62,515,039...62,796,000
G
S
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:11,177,594...11,494,252
Ensembl chrNW_004936494:11,250,728...11,494,252
G
D
MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:15,709,214...16,036,956
Ensembl chr 8:15,774,974...16,077,325
G
B
MIPOL1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,950,537...18,337,540
Ensembl chr14:36,334,202...36,672,352
G
C
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,605,072...23,934,045
Ensembl chrNW_004955409:23,637,019...23,880,323
G
R
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:80,490,330...80,825,413
Ensembl chr 6:74,755,395...75,086,811
G
M
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:57,277,211...57,546,809
Ensembl chr12:57,277,213...57,543,985
G
H
MIPOL1
mirror-image polydactyly 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:37,197,937...37,552,361
Ensembl chr14:37,197,894...37,579,125
G
D
MIR208A
microRNA mir-208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,636,919...3,636,987
Ensembl chr 8:3,636,919...3,636,987
G
R
Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,395,552...32,395,634
G
M
Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,186,517...55,186,599
Ensembl chr14:55,186,517...55,186,599
G
H
MIR208A
microRNA 208a
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,388,596...23,388,666
Ensembl chr14:23,388,596...23,388,666
G
P
MIR208B
microRNA mir-208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,667,786...75,667,865
Ensembl chr 7:75,667,786...75,667,865
G
D
MIR208B
microRNA mir-208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,665,163...3,665,236
Ensembl chr 8:3,665,163...3,665,236
G
R
Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,421,615...32,421,726
Ensembl chr15:28,451,638...28,451,749
G
M
Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,213,157...55,213,233
Ensembl chr14:55,213,157...55,213,233
G
H
MIR208B
microRNA 208b
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,417,987...23,418,063
Ensembl chr14:23,417,987...23,418,063
G
N
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,288,240...23,339,568
Ensembl chrNW_004624731:23,290,631...23,339,687
G
G
MIS18BP1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:22,329,965...22,385,321
Ensembl chr24:22,344,596...22,378,898
G
P
MIS18BP1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,401,386...175,449,399
Ensembl chr 1:175,401,390...175,448,276
G
S
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,052,207...4,083,679
G
D
MIS18BP1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,626,082...22,673,550
Ensembl chr 8:22,525,301...22,668,507
G
B
MIS18BP1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,819,302...25,869,819
Ensembl chr14:44,147,183...44,189,888
G
C
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,704,414...16,751,469
Ensembl chrNW_004955409:16,710,362...16,750,434
G
R
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383
G
M
Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,179,508...65,219,363
Ensembl chr12:65,179,508...65,219,378
G
H
MIS18BP1
MIS18 binding protein 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:45,203,190...45,253,202
Ensembl chr14:45,203,190...45,253,540
G
N
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,667,371...9,677,488
Ensembl chrNW_004624820:9,667,262...9,677,774
G
G
MMP14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679
G
P
MMP14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
G
S
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611
G
D
MMP14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122
G
B
MMP14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
G
C
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,438,924...37,448,704
Ensembl chrNW_004955409:37,440,541...37,448,437
G
R
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864
G
M
Mmp14
matrix metallopeptidase 14 (membrane-inserted)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821
G
H
MMP14
matrix metallopeptidase 14
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
G
N
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,679,172...9,683,445
Ensembl chrNW_004624820:9,679,541...9,683,106
G
G
MRPL52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,194,380...23,198,960
G
P
MRPL52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,187,447...76,191,647
Ensembl chr 7:76,187,446...76,191,901
G
S
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,459,263...1,464,208
Ensembl chrNW_004936722:1,459,241...1,465,114
G
D
MRPL52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,177,010...3,181,526
Ensembl chr 8:3,177,093...3,181,518
G
B
MRPL52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,647,387...3,651,940
Ensembl chr14:21,746,646...21,751,108
G
C
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,452,998...37,457,014
Ensembl chrNW_004955409:37,452,998...37,456,770
G
R
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,852,927...31,856,160
Ensembl chr15:27,882,829...27,886,799
G
M
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,664,366...54,667,207
Ensembl chr14:54,664,366...54,667,213
G
H
MRPL52
mitochondrial ribosomal protein L52
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,829,887...22,835,037
Ensembl chr14:22,829,879...22,835,037
G
D
MYH6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
G
B
MYH6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
G
R
Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,388,102...32,413,663
Ensembl chr15:28,417,616...28,441,720
G
M
Myh6
myosin, heavy polypeptide 6, cardiac muscle, alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384
G
H
MYH6
myosin heavy chain 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
G
P
MYH7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225
G
D
MYH7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
G
R
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217
G
M
Myh7
myosin, heavy polypeptide 7, cardiac muscle, beta
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
G
H
MYH7
myosin heavy chain 7
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
G
N
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,008,475...7,017,422
Ensembl chrNW_004624825:7,008,475...7,017,676
G
G
NDRG2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,490,219...21,499,194
Ensembl chr29:21,488,808...21,496,757
G
P
NDRG2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,111,736...78,121,216
Ensembl chr 7:78,112,536...78,121,215
G
S
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:219,131...227,856
Ensembl chrNW_004936880:219,102...228,246
G
D
NDRG2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,106,651...18,115,026
Ensembl chr15:18,106,654...18,113,970
G
B
NDRG2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,831,764...1,840,819
Ensembl chr14:19,913,674...19,967,470
G
C
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,771,514...1,778,693
Ensembl chrNW_004955550:1,767,911...1,780,635
G
R
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,074,481...27,087,376
Ensembl chr15:24,600,982...24,609,626
G
M
Ndrg2
N-myc downstream regulated gene 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,142,738...52,151,463
Ensembl chr14:52,142,728...52,151,615
G
H
NDRG2
NDRG family member 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,016,763...21,070,872
Ensembl chr14:21,016,763...21,070,872
G
N
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,319,763...8,329,748
Ensembl chrNW_004624820:8,319,832...8,329,748
G
G
NEDD8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,199,974...1,215,079
G
P
NEDD8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,069,947...75,085,905
Ensembl chr 7:75,070,161...75,085,899
G
S
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:331,116...338,496
Ensembl chrNW_004936722:331,136...338,496
G
D
NEDD8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,202,621...4,213,090
Ensembl chr 8:4,202,621...4,213,049
G
B
NEDD8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,993,011...5,008,620
Ensembl chr14:23,117,271...23,132,249
G
C
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,173,533...36,182,444
Ensembl chrNW_004955409:36,173,533...36,182,444
G
R
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,123,505...33,135,522
Ensembl chr15:29,153,556...29,166,160
G
M
Nedd8
neural precursor cell expressed, developmentally down-regulated gene 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,899,720...55,909,337
Ensembl chr14:55,899,720...55,909,581
G
H
NEDD8
NEDD8 ubiquitin like modifier
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,216,857...24,232,367
Ensembl chr14:24,216,857...24,232,367
G
H
NEDD8-MDP1
NEDD8-MDP1 readthrough
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,213,943...24,232,367
Ensembl chr14:24,213,955...24,232,352
G
N
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,917,097...18,963,490
Ensembl chrNW_004624731:18,917,191...18,961,764
G
G
NEMF
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,834,457...26,906,668
Ensembl chr24:26,835,305...26,906,564
G
P
NEMF
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,622,728...179,671,225
Ensembl chr 1:179,622,755...179,670,996
G
S
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:209,818...255,439
Ensembl chrNW_004936583:209,813...255,131
G
D
NEMF
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,364,664...26,411,475
Ensembl chr 8:26,364,838...26,411,424
G
B
NEMF
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,372,390...30,441,660
Ensembl chr14:48,679,252...48,748,258
G
C
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,855,655...12,901,673
Ensembl chrNW_004955409:12,855,749...12,900,702
G
R
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,527,690...93,571,863
Ensembl chr 6:87,791,656...87,835,841
G
M
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,358,315...69,403,975
Ensembl chr12:69,357,296...69,403,939
G
H
NEMF
nuclear export mediator factor
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,782,083...49,852,788
Ensembl chr14:49,782,083...49,852,821
G
N
Nfatc4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,136,231...8,145,395
Ensembl chrNW_004624820:8,136,156...8,146,312
G
G
NFATC4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,352,173...1,362,150
Ensembl chr24:1,352,291...1,362,680
G
P
NFATC4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,918,982...74,929,688
Ensembl chr 7:74,918,984...74,929,600
G
S
Nfatc4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:178,866...187,847
Ensembl chrNW_004936722:179,200...187,800
G
D
NFATC4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,337,098...4,346,409
Ensembl chr 8:4,336,450...4,346,100
G
B
NFATC4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,141,699...5,156,021
Ensembl chr14:23,266,702...23,279,249
G
C
Nfatc4
nuclear factor of activated T cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,931,208...35,941,555
Ensembl chrNW_004955409:35,931,173...35,940,696
G
R
Nfatc4
nuclear factor of activated T-cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,256,912...33,284,522
Ensembl chr15:29,305,535...29,314,610
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M
Nfatc4
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400
G
H
NFATC4
nuclear factor of activated T cells 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,366,911...24,379,604
Ensembl chr14:24,365,673...24,379,604
G
N
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
G
G
NFKBIA
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854
G
P
NFKBIA
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
G
S
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612
G
D
NFKBIA
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
G
B
NFKBIA
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,155,331...16,158,588
G
C
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
G
R
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941
G
M
Nfkbia
nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
G
H
NFKBIA
NFKB inhibitor alpha
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
G
N
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,092,270...9,102,189
Ensembl chrNW_004624820:9,092,139...9,102,192
G
G
NGDN
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,840,583...23,848,726
Ensembl chr29:23,840,639...23,849,653
G
P
NGDN
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,621,334...75,629,447
G
S
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:932,336...941,895
Ensembl chrNW_004936722:932,238...942,046
G
D
NGDN
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,704,430...3,713,517
Ensembl chr 8:3,705,005...3,713,517
G
B
NGDN
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,288,325...4,296,671
Ensembl chr14:22,382,334...22,390,718
G
C
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,877,343...36,887,031
Ensembl chrNW_004955409:36,877,343...36,887,031
G
R
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,459,898...32,467,260
Ensembl chr15:28,490,040...28,519,654
G
M
Ngdn
neuroguidin, EIF4E binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,252,911...55,261,595
Ensembl chr14:55,252,911...55,261,594
G
H
NGDN
neuroguidin
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,469,703...23,478,826
Ensembl chr14:23,469,679...23,509,862
G
N
Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517
G
G
NKX2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056
G
P
NKX2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575
G
S
Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
NCBI chrNW_004936494:10,517,488...10,520,567
Ensembl chrNW_004936494:10,517,488...10,520,566
G
D
NKX2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
G
B
NKX2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
G
C
Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
OMIM ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
NCBI chrNW_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430
G
R
Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress CTD Direct Evidence: marker/mechanism DNA:missense mutation exon:p.L224R (c.671T>G) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 PMID:26839702 PMID:18788921 PMID:23379327 PMID:23911641 More...
RGD:12914770 , RGD:11073166 , RGD:12914769 , RGD:12914768
NCBI chr 6:79,731,677...79,735,952
Ensembl chr 6:73,996,601...73,999,791
G
M
Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress CTD Direct Evidence: marker/mechanism DNA:missense mutation exon:p.L224R (c.671T>G) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 PMID:26839702 PMID:18788921 PMID:23379327 PMID:23911641 More...
RGD:12914770 , RGD:11073166 , RGD:12914769 , RGD:12914768
NCBI chr12:56,578,741...56,583,570
Ensembl chr12:56,578,743...56,583,693
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H
NKX2-1
NK2 homeobox 1
IAGP EXP
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress CTD Direct Evidence: marker/mechanism DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:missense mutation exon:p.L224R (c.671T>G) (human)
ClinVar CTD OMIM RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 PMID:23911641 PMID:23379327 PMID:18788921 PMID:26839702 More...
RGD:12914768 , RGD:12914769 , RGD:11073166 , RGD:12914770
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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H
NKX2-1-AS1
NKX2-1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:36,519,278...36,523,016
Ensembl chr14:36,519,278...36,655,552
G
N
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:227,941...234,431
Ensembl chrNW_004624838:228,153...229,728
G
G
NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:13,379,287...13,382,596
Ensembl chr24:13,379,687...13,381,185
G
P
NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:63,418,149...63,425,651
Ensembl chr 7:63,423,403...63,426,514
G
S
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:10,580,445...10,581,798
Ensembl chrNW_004936494:10,580,445...10,581,798
G
D
NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:15,149,318...15,151,884
Ensembl chr 8:15,149,308...15,151,661
G
B
NKX2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,332,188...17,335,036
Ensembl chr14:35,693,746...35,696,339
G
C
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:24,529,414...24,531,293
Ensembl chrNW_004955409:24,529,594...24,530,998
G
R
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:79,821,342...79,823,045
Ensembl chr 6:74,086,274...74,087,977
G
H
NKX2-8
NK2 homeobox 8
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:36,580,004...36,582,614
Ensembl chr14:36,580,004...36,582,614
G
M
Nkx2-9
NK2 homeobox 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069
G
N
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,199,350...8,204,619
Ensembl chrNW_004624820:8,199,110...8,204,612
G
G
NOP9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,282,877...1,288,265
Ensembl chr24:1,282,873...1,288,148
G
P
NOP9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,985,748...74,992,108
Ensembl chr 7:74,985,753...74,992,946
G
S
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:250,001...255,908
Ensembl chrNW_004936722:249,358...256,192
G
D
NOP9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,270,192...4,275,722
Ensembl chr 8:4,270,243...4,275,677
G
C
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,996,918...36,002,460
Ensembl chrNW_004955409:35,992,160...36,002,459
G
R
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,213,786...33,222,147
Ensembl chr15:29,243,862...29,252,220
G
M
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,983,150...55,993,091
Ensembl chr14:55,983,150...55,992,957
G
H
NOP9
NOP9 nucleolar protein
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,271,203...24,309,124
Ensembl chr14:24,299,850...24,309,124
G
N
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:5,821,232...5,973,709
Ensembl chrNW_004624820:5,821,477...5,971,637
G
G
NOVA1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:3,363,652...3,513,901
Ensembl chr24:3,360,831...3,514,435
G
P
NOVA1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:72,805,138...72,961,257
Ensembl chr 7:72,805,230...72,961,258
G
S
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:1,720,030...1,853,177
Ensembl chrNW_004936494:1,717,268...1,853,430
G
D
NOVA1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:6,133,608...6,281,508
Ensembl chr 8:6,135,679...6,281,384
G
B
NOVA1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:7,193,308...7,345,535
Ensembl chr14:25,314,077...25,466,861
G
C
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:33,681,947...33,820,356
Ensembl chrNW_004955409:33,680,587...33,815,818
G
R
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:63,780,105...63,905,567
Ensembl chr 6:63,783,489...63,906,289
G
M
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:46,744,678...46,866,143
Ensembl chr12:46,741,300...46,865,712
G
H
NOVA1
NOVA alternative splicing regulator 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:26,443,090...26,598,033
Ensembl chr14:26,443,090...26,598,033
G
N
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:3,003,455...3,904,964
Ensembl chrNW_004624838:3,006,512...3,904,799
G
P
NPAS3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,924,986...66,800,820
Ensembl chr 7:65,928,075...66,800,991
G
S
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:7,965,156...8,144,244
Ensembl chrNW_004936494:7,310,005...8,143,610
G
D
NPAS3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:11,959,895...12,799,448
G
B
NPAS3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:13,701,786...14,568,738
Ensembl chr14:31,893,101...32,758,096
G
C
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:27,134,610...27,975,282
Ensembl chrNW_004955409:27,137,667...27,975,282
G
R
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,438,064...77,263,185
Ensembl chr 6:70,703,170...71,524,884
G
M
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:53,294,874...54,118,956
Ensembl chr12:53,294,940...54,118,958
G
H
NPAS3
neuronal PAS domain protein 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:32,934,785...33,804,173
Ensembl chr14:32,934,396...33,820,863
G
N
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,436,469...8,449,354
Ensembl chrNW_004624820:8,444,687...8,449,354
G
G
NRL
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,064,266...1,100,995
Ensembl chr24:1,064,664...1,066,278
G
P
NRL
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,199,048...75,211,655
Ensembl chr 7:75,206,719...75,210,529
G
S
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553
G
D
NRL
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,086,487...4,090,373
Ensembl chr 8:4,086,508...4,089,216
G
B
NRL
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187
G
C
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,279,996...36,313,824
Ensembl chrNW_004955409:36,310,932...36,313,893
G
R
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,977,023...32,981,442
Ensembl chr15:29,008,104...29,009,832
G
M
Nrl
neural retina leucine zipper gene
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438
G
H
NRL
neural retina leucine zipper
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
G
N
Nubpl
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:562,180...767,434
Ensembl chrNW_004624820:567,217...791,817
G
P
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:67,785,652...68,028,561
Ensembl chr 7:67,784,639...68,028,552
G
S
Nubpl
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:6,141,444...6,365,537
Ensembl chrNW_004936494:6,141,476...6,363,830
G
D
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,796,462...11,026,804
Ensembl chr 8:10,796,459...11,090,920
G
B
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:12,338,341...12,628,346
G
C
Nubpl
NUBP iron-sulfur cluster assembly factor, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:28,873,609...29,073,196
Ensembl chrNW_004955409:28,872,189...29,073,206
G
R
Nubpl
NUBP iron-sulfur cluster assembly factor like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,294,609...75,516,603
Ensembl chr 6:69,559,291...69,781,253
G
M
Nubpl
nucleotide binding protein-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:52,144,529...52,357,753
Ensembl chr12:52,144,520...52,359,527
G
H
NUBPL
NUBP iron-sulfur cluster assembly factor, mitochondrial
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224
G
N
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,093,119...8,114,465
Ensembl chrNW_004624820:8,094,908...8,118,679
G
G
NYNRIN
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,380,864...1,401,710
Ensembl chr24:1,381,483...1,401,750
G
P
NYNRIN
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,877,910...74,898,596
Ensembl chr 7:74,879,260...74,898,568
G
S
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:134,221...155,020
Ensembl chrNW_004936722:134,190...155,115
G
D
NYNRIN
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,368,702...4,389,565
Ensembl chr 8:4,368,560...4,387,842
G
B
NYNRIN
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905
G
C
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,890,158...35,910,859
Ensembl chrNW_004955409:35,889,773...35,910,771
G
R
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,302,778...33,325,120
Ensembl chr15:29,332,869...29,355,215
G
M
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,091,572...56,112,193
Ensembl chr14:56,091,467...56,112,193
G
H
NYNRIN
NYN domain and retroviral integrase containing
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283
G
M
Or10g1
olfactory receptor family 10 subfamily G member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,647,346...52,648,384
Ensembl chr14:52,646,588...52,651,830
G
R
Or10g1b
olfactory receptor family 10 subfamily G member 1B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,601,332...27,602,288
Ensembl chr15:25,127,140...25,135,188
G
H
OR10G2
olfactory receptor family 10 subfamily G member 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,633,836...21,634,940
Ensembl chr14:21,633,836...21,634,940
G
R
Or10g3
olfactory receptor family 10 subfamily G member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,572,175...27,573,116
Ensembl chr15:25,098,674...25,099,615
G
M
Or10g3
olfactory receptor family 10 subfamily G member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,609,567...52,610,508
Ensembl chr14:52,608,789...52,616,625
G
H
OR10G3
olfactory receptor family 10 subfamily G member 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,568,520...21,580,076
Ensembl chr14:21,568,520...21,580,076
G
R
Or4e2
olfactory receptor family 4 subfamily E member 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,661,127...27,662,053
Ensembl chr15:25,179,800...25,191,297
G
M
Or4e2
olfactory receptor family 4 subfamily E member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,687,850...52,688,859
Ensembl chr14:52,680,447...52,690,031
G
H
OR4E2
olfactory receptor family 4 subfamily E member 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,653,835...21,667,642
Ensembl chr14:21,653,835...21,667,642
G
D
OR4H12
olfactory receptor family 4 subfamily H member 12
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:17,321,371...17,322,875
Ensembl chr15:17,321,380...17,322,309
G
R
Or5au1
olfactory receptor family 5 subfamily AU member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,211,299...27,215,828
Ensembl chr15:24,737,497...24,743,632
G
M
Or5au1
olfactory receptor family 5 subfamily AU member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,272,631...52,273,566
Ensembl chr14:52,271,419...52,279,916
G
H
OR5AU1
olfactory receptor family 5 subfamily AU member 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,154,865...21,156,063
Ensembl chr14:21,148,370...21,159,060
G
N
Oxa1l
OXA1L mitochondrial inner membrane insertase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,757,615...9,763,686
Ensembl chrNW_004624820:9,757,840...9,763,640
G
G
OXA1L
OXA1L mitochondrial inner membrane insertase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,131,273...23,137,470
Ensembl chr29:23,131,453...23,137,245
G
P
OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,234,710...76,266,700
Ensembl chr 7:76,230,889...76,266,429
G
S
Oxa1l
OXA1L mitochondrial inner membrane insertase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,524,116...1,528,659
G
D
OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,108,669...3,132,337
Ensembl chr 8:3,108,757...3,132,334
G
B
OXA1L
OXA1L mitochondrial inner membrane insertase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101
G
C
Oxa1l
OXA1L mitochondrial inner membrane insertase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,513,925...37,519,250
Ensembl chrNW_004955409:37,514,177...37,519,376
G
R
Oxa1l
OXA1L, mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,783,725...31,791,353
Ensembl chr15:27,813,625...27,821,319
G
M
Oxa1l
oxidase assembly 1-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,598,298...54,607,130
Ensembl chr14:54,598,291...54,607,130
G
H
OXA1L
OXA1L mitochondrial inner membrane protein
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,766,688...22,773,042
Ensembl chr14:22,766,522...22,773,042
G
P
PABPN1
poly(A) binding protein nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,752,571...75,756,522
Ensembl chr 7:75,751,760...75,756,700
G
D
PABPN1
poly(A) binding protein nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,580,768...3,585,546
Ensembl chr 8:3,569,399...3,586,070
G
B
PABPN1
poly(A) binding protein nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,126,179...4,144,810
Ensembl chr14:22,220,986...22,239,403
G
C
Pabpn1
poly(A) binding protein nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,000,423...37,004,823
Ensembl chrNW_004955409:37,000,451...37,004,682
G
R
Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,337,955...32,342,700
Ensembl chr15:28,368,100...28,372,703
G
M
Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,131,600...55,136,384
Ensembl chr14:55,129,957...55,135,626
G
H
PABPN1
poly(A) binding protein nuclear 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163
G
N
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636
G
G
PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505
G
P
PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,711...63,346,310
G
S
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:10,657,902...10,673,176
Ensembl chrNW_004936494:10,658,077...10,672,251
G
D
PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
G
B
PAX9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697
G
C
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:24,401,599...24,443,687
Ensembl chrNW_004955409:24,424,343...24,444,040
G
R
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:79,917,466...79,938,551
Ensembl chr 6:74,182,568...74,203,506
G
M
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607
G
H
PAX9
paired box 9
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
G
N
Pck2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,426,456...8,436,484
Ensembl chrNW_004624820:8,426,606...8,436,284
G
G
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,077,206...1,087,306
Ensembl chr24:1,077,447...1,087,607
G
P
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,187,195...75,197,613
Ensembl chr 7:75,187,197...75,197,733
G
S
Pck2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:428,473...450,452
Ensembl chrNW_004936722:428,307...437,328
G
D
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,099,016...4,107,870
Ensembl chr 8:4,098,671...4,107,865
G
B
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,872,276...4,882,118
Ensembl chr14:22,996,813...23,006,775
G
C
Pck2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,288,402...36,296,761
Ensembl chrNW_004955409:36,288,568...36,296,828
G
R
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,997,853...33,006,691
Ensembl chr15:29,027,894...29,037,283
G
M
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,777,721...55,787,477
Ensembl chr14:55,777,723...55,788,699
G
H
PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598
G
N
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,620,089...8,627,964
Ensembl chrNW_004624813:8,620,174...8,626,886
G
G
PNN
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:15,949,015...15,956,969
Ensembl chr24:15,948,722...15,955,618
G
P
PNN
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,725,649...169,734,003
Ensembl chr 1:169,725,649...169,734,003
G
S
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,762,175...12,769,986
G
D
PNN
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:17,354,004...17,361,462
Ensembl chr 8:17,354,004...17,361,462
G
B
PNN
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,945,185...19,952,922
Ensembl chr14:38,300,782...38,308,512
G
C
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,102,016...22,110,505
G
R
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
G
M
Pnn
pinin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,113,705...59,120,803
Ensembl chr12:59,113,670...59,120,784
G
H
PNN
pinin, desmosome associated protein
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:39,175,254...39,183,220
Ensembl chr14:39,175,183...39,183,220
G
N
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,027,668...19,063,268
Ensembl chrNW_004624731:19,027,721...19,063,113
G
G
POLE2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,682,627...26,736,266
Ensembl chr24:26,682,723...26,736,171
G
P
POLE2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,495,278...179,529,891
Ensembl chr 1:179,495,214...179,529,896
G
S
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:340,428...386,633
Ensembl chrNW_004936583:341,456...386,395
G
D
POLE2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,264,220...26,295,089
Ensembl chr 8:26,251,160...26,295,317
G
B
POLE2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,222,957...30,268,455
Ensembl chr14:48,531,945...48,576,700
G
C
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,983,488...13,014,669
Ensembl chrNW_004955409:12,983,586...13,014,578
G
R
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,410,713...93,448,782
Ensembl chr 6:87,674,702...87,699,305
G
M
Pole2
polymerase (DNA directed), epsilon 2 (p59 subunit)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,248,547...69,274,979
Ensembl chr12:69,248,547...69,274,969
G
H
POLE2
DNA polymerase epsilon 2, accessory subunit
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,643,555...49,688,214
Ensembl chr14:49,643,555...49,688,422
G
N
Ppp1r3e
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,246,477...9,255,803
Ensembl chrNW_004624820:9,248,989...9,252,604
G
G
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,671,906...23,675,340
Ensembl chr29:23,673,995...23,675,136
G
P
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,770,813...75,782,717
Ensembl chr 7:75,776,720...75,780,649
G
S
Ppp1r3e
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,062,669...1,066,611
Ensembl chrNW_004936722:1,063,576...1,066,617
G
D
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,559,296...3,564,849
Ensembl chr 8:3,563,457...3,564,524
G
B
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,118,827...4,122,294
Ensembl chr14:22,215,635...22,216,794
G
C
Ppp1r3e
protein phosphatase 1 regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,016,851...37,025,125
Ensembl chrNW_004955409:37,022,140...37,023,312
G
R
Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,318,435...32,319,595
Ensembl chr15:28,347,854...28,349,603
G
M
Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,113,054...55,114,995
Ensembl chr14:55,110,126...55,115,007
G
H
PPP1R3E
protein phosphatase 1 regulatory subunit 3E
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,295,652...23,302,859
Ensembl chr14:23,295,652...23,302,859
G
N
Ppp2r3c
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,627,632...1,655,079
Ensembl chrNW_004624838:1,627,873...1,657,475
G
G
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,901,522...11,935,764
Ensembl chr24:11,900,604...11,935,560
G
P
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
G
S
Ppp2r3c
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019
G
D
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,863,017...13,885,245
Ensembl chr 8:13,863,380...13,885,130
G
B
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842
G
C
Ppp2r3c
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,920,973...25,943,985
G
R
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,382,849...78,406,037
Ensembl chr 6:72,647,025...72,672,491
G
M
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,327,594...55,350,024
Ensembl chr12:55,325,776...55,349,783
G
H
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
G
N
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:2,408,562...2,726,199
Ensembl chrNW_004624820:2,408,360...2,726,606
G
P
PRKD1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863
G
S
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:4,469,092...4,601,183
Ensembl chrNW_004936494:4,469,089...4,601,214
G
D
PRKD1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:9,004,641...9,327,054
Ensembl chr 8:9,005,115...9,328,358
G
B
PRKD1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:10,353,284...10,707,841
Ensembl chr14:28,496,282...28,650,030
G
C
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:30,554,095...30,860,588
Ensembl chrNW_004955409:30,554,013...30,860,649
G
R
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,460,640...73,774,433
Ensembl chr 6:67,725,905...68,039,042
G
M
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:50,388,009...50,696,075
Ensembl chr12:50,388,014...50,695,881
G
H
PRKD1
protein kinase D1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898
G
N
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
G
G
PRMT5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518
G
P
PRMT5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989
G
S
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,379,515...1,388,538
Ensembl chrNW_004936722:1,379,515...1,388,546
G
D
PRMT5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456
G
B
PRMT5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018
G
C
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,369,507...37,378,034
Ensembl chrNW_004955409:37,369,234...37,378,093
G
R
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,938,927...31,948,318
Ensembl chr15:27,968,910...27,978,296
G
M
Prmt5
protein arginine N-methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
G
H
PRMT5
protein arginine methyltransferase 5
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408
G
G
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,936,410...12,081,721
Ensembl chr24:11,936,410...12,083,519
G
P
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
G
S
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,282,894...9,414,350
G
D
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,885,734...14,007,224
G
B
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657
G
C
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,791,209...25,920,651
Ensembl chrNW_004955409:25,791,575...25,920,077
G
R
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,404,821...78,497,562
Ensembl chr 6:72,670,847...72,762,416
G
M
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318
G
H
PRORP
protein only RNase P catalytic subunit
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622
G
N
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,409,610...23,450,286
Ensembl chrNW_004624731:23,409,610...23,450,772
G
G
PRPF39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:22,204,010...22,235,740
Ensembl chr24:22,216,451...22,239,051
G
P
PRPF39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,285,219...175,317,245
Ensembl chr 1:175,285,270...175,317,298
G
S
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,162,381...4,194,615
Ensembl chrNW_004936583:4,161,945...4,194,699
G
D
PRPF39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,510,816...22,549,481
Ensembl chr 8:22,511,329...22,549,226
G
B
PRPF39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,700,636...25,732,012
Ensembl chr14:44,027,452...44,059,865
G
C
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,824,638...16,845,778
Ensembl chrNW_004955409:16,824,638...16,845,778
G
R
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
G
M
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,083,094...65,110,160
Ensembl chr12:65,083,107...65,110,160
G
H
PRPF39
pre-mRNA processing factor 39
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:45,084,116...45,116,282
Ensembl chr14:45,084,107...45,116,282
G
N
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,449,362...1,474,597
Ensembl chrNW_004624838:1,449,266...1,486,382
G
G
PSMA6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:12,099,804...12,127,477
Ensembl chr24:12,099,937...12,127,309
G
P
PSMA6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491
G
S
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,443,176...9,467,697
G
D
PSMA6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:14,010,899...14,038,141
Ensembl chr 8:14,010,939...14,038,134
G
B
PSMA6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347
G
C
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,751,578...25,787,533
Ensembl chrNW_004955409:25,750,270...25,787,533
G
R
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,500,676...78,531,693
Ensembl chr 6:72,765,473...72,796,554
G
M
Psma6
proteasome subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,431,007...55,465,244
Ensembl chr12:55,431,007...55,465,239
G
H
PSMA6
proteasome 20S subunit alpha 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493
G
N
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,498,320...9,499,222
Ensembl chrNW_004624820:9,498,320...9,499,222
G
G
PSMB11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,410,583...23,413,099
Ensembl chr29:23,411,557...23,412,459
G
P
PSMB11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,005,609...76,006,728
Ensembl chr 7:76,005,612...76,006,703
G
S
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,279,867...1,281,232
Ensembl chrNW_004936722:1,280,042...1,280,923
G
D
PSMB11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,355,239...3,356,505
G
B
PSMB11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,861,823...3,863,949
Ensembl chr14:21,959,146...21,960,048
G
C
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,260,080...37,260,866
G
R
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,054,747...32,055,666
G
M
Psmb11
proteasome (prosome, macropain) subunit, beta type, 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,862,767...54,867,013
Ensembl chr14:54,858,890...54,867,013
G
H
PSMB11
proteasome subunit beta 11
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,042,212...23,044,060
Ensembl chr14:23,042,212...23,044,060
G
N
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,506,119...9,513,034
Ensembl chrNW_004624820:9,505,725...9,513,034
G
G
PSMB5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,394,820...23,403,953
Ensembl chr29:23,390,401...23,403,658
G
P
PSMB5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,014,576...76,021,922
G
S
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,285,488...1,293,637
Ensembl chrNW_004936722:1,285,482...1,295,106
G
D
PSMB5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,344,157...3,349,921
Ensembl chr 8:3,344,233...3,349,926
G
B
PSMB5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,845,951...3,855,335
Ensembl chr14:21,943,432...21,952,169
G
C
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,269,319...37,278,957
Ensembl chrNW_004955409:37,268,980...37,279,937
G
R
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,042,784...32,047,379
Ensembl chr15:28,072,781...28,077,440
G
M
Psmb5
proteasome (prosome, macropain) subunit, beta type 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,851,577...54,855,452
Ensembl chr14:54,851,576...54,855,479
G
H
PSMB5
proteasome 20S subunit beta 5
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,025,851...23,035,220
Ensembl chr14:23,016,543...23,035,230
G
N
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,397,344...8,400,273
Ensembl chrNW_004624820:8,397,344...8,400,285
G
G
PSME1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,122,086...1,124,907
Ensembl chr24:1,122,631...1,125,416
G
P
PSME1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,161,830...75,164,531
Ensembl chr 7:75,160,766...75,164,810
G
S
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:405,491...408,277
Ensembl chrNW_004936722:403,112...408,473
G
D
PSME1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006
G
B
PSME1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405
G
C
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,262,114...36,264,996
Ensembl chrNW_004955409:36,262,114...36,264,994
G
R
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,038,962...33,041,849
Ensembl chr15:29,068,729...29,071,890
G
M
Psme1
proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,815,951...55,818,984
Ensembl chr14:55,815,580...55,818,986
G
H
PSME1
proteasome activator subunit 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967
G
N
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,389,348...8,393,498
Ensembl chrNW_004624820:8,389,286...8,393,498
G
G
PSME2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,129,389...1,133,289
Ensembl chr24:1,129,419...1,132,596
G
P
PSME2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,154,570...75,157,871
Ensembl chr 7:75,153,965...75,157,870
G
S
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:398,406...401,987
Ensembl chrNW_004936722:397,876...402,167
G
D
PSME2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706
G
B
PSME2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296
G
C
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,252,847...36,257,021
G
R
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,048,452...33,053,055
Ensembl chr15:29,078,500...29,082,946
G
M
Psme2
proteasome (prosome, macropain) activator subunit 2 (PA28 beta)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,824,897...55,828,558
Ensembl chr14:55,824,898...55,828,570
G
H
PSME2
proteasome activator subunit 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,143,365...24,146,610
Ensembl chr14:24,143,362...24,147,570
G
H
PTCSC3
papillary thyroid carcinoma susceptibility candidate 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:36,134,890...36,176,722
Ensembl chr14:36,130,677...36,217,284
G
N
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,477,729...7,493,669
Ensembl chrNW_004624825:7,478,151...7,493,649
G
G
RAB2B
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,927,529...21,946,206
Ensembl chr29:21,927,107...21,946,012
G
P
RAB2B
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,698,907...77,717,211
Ensembl chr 7:77,689,551...77,716,772
G
S
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:610,903...628,176
Ensembl chrNW_004936880:610,878...628,753
G
D
RAB2B
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,494,417...18,512,144
Ensembl chr15:18,495,891...18,512,030
G
B
RAB2B
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,276,798...2,294,730
Ensembl chr14:20,353,701...20,371,629
G
C
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,180,326...2,195,523
Ensembl chrNW_004955550:2,180,326...2,195,523
G
R
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,441,860...27,462,479
Ensembl chr15:24,968,803...24,989,113
G
M
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,499,216...52,516,852
Ensembl chr14:52,499,216...52,517,002
G
H
RAB2B
RAB2B, member RAS oncogene family
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,459,020...21,476,959
Ensembl chr14:21,459,020...21,476,960
G
N
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,230,560...8,236,843
Ensembl chrNW_004624820:8,230,893...8,236,843
G
G
RABGGTA
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,248,637...1,254,937
Ensembl chr24:1,248,393...1,266,254
G
P
RABGGTA
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,021,716...75,028,229
Ensembl chr 7:75,021,755...75,028,875
G
S
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:283,682...289,548
Ensembl chrNW_004936722:283,544...290,429
G
D
RABGGTA
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,244,731...4,250,836
Ensembl chr 8:4,244,781...4,250,744
G
B
RABGGTA
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,041,694...5,047,775
Ensembl chr14:23,163,034...23,171,311
G
R
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,176,268...33,183,320
Ensembl chr15:29,206,157...29,213,348
G
M
Rabggta
Rab geranylgeranyl transferase, a subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,953,321...55,959,720
Ensembl chr14:55,952,873...55,959,720
G
H
RABGGTA
Rab geranylgeranyltransferase subunit alpha
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,265,538...24,271,627
Ensembl chr14:24,265,538...24,271,611
G
N
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151
G
G
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622
G
P
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694
G
S
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:9,649,444...9,866,942
Ensembl chrNW_004936494:9,659,285...9,866,408
G
D
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998
G
B
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430
G
C
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657
G
R
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:72,977,432...73,252,378
G
M
Ralgapa1
Ral GTPase activating protein, alpha subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952
G
H
RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
G
N
Rbm23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,610,274...9,624,523
G
G
RBM23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,267,941...23,287,097
Ensembl chr29:23,267,944...23,287,166
G
P
RBM23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,120,725...76,132,148
Ensembl chr 7:76,124,944...76,136,596
G
S
Rbm23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,389,534...1,402,487
Ensembl chrNW_004936722:1,397,697...1,401,372
G
D
RBM23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,233,715...3,247,014
Ensembl chr 8:3,234,859...3,246,981
G
B
RBM23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,710,492...3,736,415
Ensembl chr14:21,817,434...21,835,668
G
C
Rbm23
RNA binding motif protein 23
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,384,872...37,392,896
G
H
RBM23
RNA binding motif protein 23
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,893,204...22,919,149
Ensembl chr14:22,893,204...22,919,182
G
N
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,361,345...8,369,356
Ensembl chrNW_004624820:8,361,400...8,368,347
G
G
REC8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,157,135...1,165,927
G
P
REC8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,118,743...75,127,759
Ensembl chr 7:75,118,744...75,125,537
G
S
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:369,366...375,243
Ensembl chrNW_004936722:369,423...375,243
G
D
REC8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,165,637...4,171,488
Ensembl chr 8:4,165,879...4,171,486
G
B
REC8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948
G
C
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,223,783...36,231,749
Ensembl chrNW_004955409:36,223,844...36,230,948
G
R
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,079,818...33,087,283
Ensembl chr15:29,109,863...29,117,326
G
M
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,855,459...55,862,852
Ensembl chr14:55,855,494...55,862,852
G
H
REC8
REC8 meiotic recombination protein
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,172,080...24,180,923
Ensembl chr14:24,171,853...24,180,257
G
N
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,635,971...9,640,321
Ensembl chrNW_004624820:9,635,552...9,640,482
G
G
REM2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,249,170...23,254,732
Ensembl chr29:23,250,334...23,253,988
G
P
REM2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,141,015...76,149,162
Ensembl chr 7:76,143,726...76,150,147
G
S
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,412,068...1,416,967
Ensembl chrNW_004936722:1,410,731...1,416,991
G
D
REM2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,215,023...3,223,470
Ensembl chr 8:3,208,269...3,382,311
G
B
REM2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,700,397...3,704,897
Ensembl chr14:21,800,155...21,804,692
G
C
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,403,758...37,408,312
Ensembl chrNW_004955409:37,402,212...37,408,312
G
R
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,903,972...31,908,451
Ensembl chr15:27,933,950...27,938,429
G
M
Rem2
rad and gem related GTP binding protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,713,676...54,717,889
Ensembl chr14:54,713,557...54,717,888
G
H
REM2
RRAD and GEM like GTPase 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,883,222...22,887,678
Ensembl chr14:22,883,222...22,887,678
G
N
Ripk3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,165,546...8,169,172
G
G
RIPK3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462
G
P
RIPK3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
G
S
Ripk3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839
G
D
RIPK3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325
G
B
RIPK3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821
G
C
Ripk3
receptor interacting serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,961,604...35,965,477
Ensembl chrNW_004955409:35,937,880...35,965,712
G
R
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:29,283,145...29,292,121
G
M
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322
G
H
RIPK3
receptor interacting serine/threonine kinase 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
G
M
Rn7s2
7S RNA 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,407,957...69,408,255
Ensembl chr12:69,407,956...69,408,255
G
D
RN7SL1
RNA, 7SL, cytoplasmic 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,223,712...26,224,010
Ensembl chr 8:26,223,712...26,224,011
G
R
Rn7sl1
RNA component of signal recognition particle 7SL1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
G
H
RN7SL1
RNA component of signal recognition particle 7SL1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,586,580...49,586,878
Ensembl chr14:49,586,580...49,586,878
G
H
RN7SL2
RNA component of signal recognition particle 7SL2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,862,551...49,862,849
Ensembl chr14:49,862,550...49,862,849
G
H
RN7SL3
RNA component of signal recognition particle 7SL3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,853,616...49,853,914
Ensembl chr14:49,853,616...49,853,914
G
P
RNASE1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,199,007...78,214,832
Ensembl chr 7:78,213,005...78,214,821
G
S
Rnase1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:91,085...92,743
Ensembl chrNW_004936880:91,088...92,720
G
B
RNASE1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,663,595...1,665,121
Ensembl chr14:19,720,127...19,720,597
G
R
Rnase1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624
G
M
Rnase1
ribonuclease, RNase A family, 1 (pancreatic)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,382,459...51,384,224
Ensembl chr14:51,382,455...51,384,242
G
H
RNASE1
ribonuclease A family member 1, pancreatic
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,801,228...20,802,844
Ensembl chr14:20,801,228...20,802,855
G
N
Rnase13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,024,168...7,026,096
Ensembl chrNW_004624825:7,025,342...7,025,803
G
G
RNASE13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,505,792...21,520,610
Ensembl chr29:21,507,546...21,508,016
G
P
RNASE13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,096,249...78,107,768
G
S
Rnase13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:233,200...245,256
Ensembl chrNW_004936880:233,977...234,447
G
D
RNASE13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,122,227...18,123,978
Ensembl chr15:18,122,946...18,123,719
G
B
RNASE13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,847,810...1,849,797
G
C
Rnase13
ribonuclease A family member 13 (inactive)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,786,550...1,800,191
Ensembl chrNW_004955550:1,786,550...1,800,191
G
R
Rnase13
ribonuclease A family member 13
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
G
M
Rnase13
ribonuclease, RNase A family, 13 (non-active)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,158,817...52,160,734
Ensembl chr14:52,158,819...52,160,230
G
H
RNASE13
ribonuclease A family member 13 (inactive)
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,032,818...21,034,807
Ensembl chr14:21,032,818...21,034,807
G
G
RNASE2
ribonuclease A family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,411,633...21,412,723
Ensembl chr29:21,412,062...21,412,544
G
R
Rnase2
ribonuclease A family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:26,923,125...26,923,934
Ensembl chr15:24,449,611...24,450,479
G
H
RNASE2
ribonuclease A family member 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,955,487...20,956,436
Ensembl chr14:20,955,487...20,956,436
G
R
Rnase3
ribonuclease A family member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:26,985,399...26,986,269
Ensembl chr15:24,511,891...24,512,790
G
H
RNASE3
ribonuclease A family member 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348
G
G
RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,216,021...21,233,306
Ensembl chr29:21,216,477...21,232,699
G
P
RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930
G
S
Rnase4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:41,940...42,988
Ensembl chrNW_004936880:34,289...43,209
G
D
RNASE4
ribonuclease, RNase A family, 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631
G
B
RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,548,729...1,564,819
Ensembl chr14:19,620,758...19,621,201
G
R
Rnase4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:26,786,287...26,803,634
Ensembl chr15:24,312,464...24,330,117
G
M
Rnase4
ribonuclease, RNase A family 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,328,534...51,343,608
Ensembl chr14:51,328,534...51,343,608
G
H
RNASE4
ribonuclease A family member 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,684,560...20,701,216
Ensembl chr14:20,684,560...20,701,216
G
N
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:4,468,213...4,469,557
Ensembl chrNW_004624825:4,468,213...4,469,566
G
G
RNASE6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,285,708...21,287,452
Ensembl chr29:21,286,685...21,287,134
G
P
RNASE6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,220,131...78,221,665
Ensembl chr 7:78,220,131...78,221,665
G
S
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:78,532...79,342
Ensembl chrNW_004936880:78,081...79,021
G
B
RNASE6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,642,819...1,644,582
Ensembl chr14:19,700,536...19,700,988
G
C
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,687,068...1,688,160
G
R
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:26,827,896...26,830,807
Ensembl chr15:24,354,303...24,357,328
G
M
Rnase6
ribonuclease, RNase A family, 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:51,361,365...51,369,644
Ensembl chr14:51,361,365...51,369,644
G
H
RNASE6
ribonuclease A family member 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,781,070...20,782,467
Ensembl chr14:20,781,268...20,782,467
G
N
Rnase7
ribonuclease A family member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,034,523...7,036,967
Ensembl chrNW_004624825:7,036,229...7,036,702
G
G
RNASE7
ribonuclease A family member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,515,069...21,517,963
G
B
RNASE7
ribonuclease A family member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,857,213...1,858,781
Ensembl chr14:19,939,884...19,940,354
G
C
Rnase7
ribonuclease A family member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,796,301...1,797,801
G
H
RNASE7
ribonuclease A family member 7
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,042,362...21,044,233
Ensembl chr14:21,042,316...21,044,234
G
G
RNASE8
ribonuclease A family member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,530,614...21,532,638
Ensembl chr29:21,531,675...21,532,139
G
B
RNASE8
ribonuclease A family member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,872,595...1,873,331
Ensembl chr14:19,954,680...19,955,147
G
H
RNASE8
ribonuclease A family member 8
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,057,822...21,058,455
Ensembl chr14:21,057,822...21,058,455
G
N
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,268,727...9,322,963
G
G
RNF212B
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,609,267...23,646,333
Ensembl chr29:23,611,965...23,644,935
G
P
RNF212B
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,798,895...75,831,455
Ensembl chr 7:75,796,882...75,829,620
G
S
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,086,237...1,116,352
Ensembl chrNW_004936722:1,088,424...1,116,352
G
D
RNF212B
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,509,481...3,552,600
Ensembl chr 8:3,509,638...3,544,740
G
B
RNF212B
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,056,671...4,093,210
Ensembl chr14:22,153,247...22,188,319
G
C
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,041,751...37,095,179
G
R
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,244,620...32,292,358
Ensembl chr15:28,244,083...28,321,347
G
M
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,020,798...55,091,567
Ensembl chr14:55,051,598...55,091,565
G
H
RNF212B
ring finger protein 212B
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,185,336...23,273,477
Ensembl chr14:23,185,316...23,273,477
G
N
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,376,530...8,388,596
Ensembl chrNW_004624820:8,375,871...8,388,569
G
G
RNF31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,133,589...1,146,020
Ensembl chr24:1,133,723...1,142,943
G
S
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:385,972...397,718
Ensembl chrNW_004936722:385,971...398,030
G
D
RNF31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,141,501...4,151,999
G
B
RNF31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,923,391...4,936,959
Ensembl chr14:23,047,893...23,061,923
G
C
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,240,008...36,252,166
Ensembl chrNW_004955409:36,240,008...36,252,166
G
R
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,053,450...33,065,285
Ensembl chr15:29,083,631...29,101,915
G
M
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,829,199...55,841,131
Ensembl chr14:55,829,165...55,841,150
G
H
RNF31
ring finger protein 31
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660
G
N
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,289,385...7,366,388
Ensembl chrNW_004624825:7,296,662...7,366,196
G
G
RPGRIP1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,769,366...21,822,346
Ensembl chr29:21,762,809...21,822,249
G
P
RPGRIP1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,813,775...77,903,928
G
S
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685
G
D
RPGRIP1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735
G
B
RPGRIP1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
G
C
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498
G
R
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,282,997...27,341,021
Ensembl chr15:24,814,614...24,868,605
G
M
Rpgrip1
retinitis pigmentosa GTPase regulator interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003
G
H
RPGRIP1
RPGR interacting protein 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
G
N
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:21,941,646...21,944,165
Ensembl chrNW_004624731:21,941,818...21,942,462
G
G
RPL10L
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:23,667,440...23,669,041
Ensembl chr24:23,668,304...23,668,948
G
P
RPL10L
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:176,603,177...176,604,116
Ensembl chr 1:176,603,248...176,603,892
G
S
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:2,975,604...2,976,248
Ensembl chrNW_004936583:2,975,604...2,976,248
G
D
RPL10L
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:23,671,961...23,673,085
Ensembl chr 8:23,672,388...23,673,032
G
B
RPL10L
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:27,254,150...27,255,381
Ensembl chr14:45,565,079...45,565,723
G
C
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:15,612,118...15,613,056
Ensembl chrNW_004955409:15,612,198...15,612,842
G
R
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
G
M
Rpl10l
ribosomal protein L10-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:66,330,153...66,331,175
Ensembl chr12:66,330,153...66,331,175
G
H
RPL10L
ribosomal protein L10 like
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:46,651,010...46,651,781
Ensembl chr14:46,651,010...46,651,781
G
N
Rpl36al
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,082,925...19,084,464
Ensembl chrNW_004624731:19,027,587...19,085,171
G
G
RPL36AL
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,658,516...26,660,461
G
P
RPL36AL
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,476,638...179,477,820
Ensembl chr 1:179,476,640...179,479,147
G
S
Rpl36al
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:400,117...401,489
G
D
RPL36AL
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,243,619...26,244,780
Ensembl chr 8:26,243,617...26,245,386
G
B
RPL36AL
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,196,924...30,198,944
Ensembl chr14:48,506,945...48,507,265
G
C
Rpl36al
ribosomal protein L36a like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,032,499...13,033,876
G
M
Rpl36al
ribosomal protein L36A-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,229,508...69,230,841
Ensembl chr12:69,229,505...69,230,857
G
H
RPL36AL
ribosomal protein L36a like
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,618,530...49,620,626
Ensembl chr14:49,618,530...49,620,626
G
R
Rpl36al1
ribosomal protein L36A like 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,654,808...87,656,202
Ensembl chr X:97,766,179...97,768,892 Ensembl chr10:97,766,179...97,768,892 Ensembl chr20:97,766,179...97,768,892
G
N
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:19,107,593...19,109,651
G
G
RPS29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:26,621,394...26,631,509
Ensembl chr24:26,628,561...26,632,048
G
P
RPS29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,454,923...179,456,847
Ensembl chr 1:179,454,928...179,461,631
G
S
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:426,476...428,008
G
D
RPS29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,221,546...26,223,580
G
B
RPS29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,155,559...30,164,677
G
C
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:13,056,022...13,057,530
Ensembl chrNW_004955409:13,055,341...13,056,437
G
R
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,371,293...93,372,731
Ensembl chr 6:87,635,230...87,636,636 Ensembl chr13:87,635,230...87,636,636
G
M
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,204,495...69,205,891
Ensembl chr12:69,204,496...69,205,960
G
H
RPS29
ribosomal protein S29
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
G
N
Sall2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,536,350...7,551,168
Ensembl chrNW_004624825:7,535,781...7,551,255
G
G
SALL2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,992,227...22,008,651
Ensembl chr29:21,992,229...21,997,594
G
P
SALL2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,552,357...77,653,380
Ensembl chr 7:77,638,848...77,653,376
G
S
Sall2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:670,063...685,532
Ensembl chrNW_004936880:668,789...685,594
G
D
SALL2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,558,181...18,571,941
Ensembl chr15:18,558,178...18,561,547
G
B
SALL2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,338,806...2,354,970
Ensembl chr14:20,416,071...20,431,000
G
C
Sall2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,236,129...2,250,829
Ensembl chrNW_004955550:2,237,677...2,250,829
G
R
Sall2
spalt-like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,494,831...27,512,402
Ensembl chr15:25,021,345...25,038,918
G
M
Sall2
spalt like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,548,634...52,566,127
Ensembl chr14:52,548,629...52,566,219
G
H
SALL2
spalt like transcription factor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,521,080...21,537,121
Ensembl chr14:21,521,080...21,537,216
G
N
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,614,884...1,714,020
G
P
SCFD1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,694,579...68,851,055
Ensembl chr 7:68,712,773...68,851,008
G
S
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:5,410,219...5,501,687
Ensembl chrNW_004936494:5,410,269...5,501,498
G
D
SCFD1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:9,970,724...10,077,123
Ensembl chr 8:9,970,790...10,077,122
G
B
SCFD1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,401,378...11,508,418
Ensembl chr14:29,602,241...29,709,133
G
C
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,805,909...29,903,208
Ensembl chrNW_004955409:29,805,909...29,903,208
G
R
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,531,225...74,609,463
Ensembl chr 6:68,795,878...68,874,078
G
M
Scfd1
Sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,424,296...51,496,887
Ensembl chr12:51,424,293...51,496,884
G
H
SCFD1
sec1 family domain containing 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,622,254...30,735,850
Ensembl chr14:30,622,291...30,737,694
G
N
Sdr39u1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,072,477...8,075,664
Ensembl chrNW_004624820:8,072,577...8,075,673
G
G
SDR39U1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,422,339...1,425,490
G
P
SDR39U1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,851,049...74,855,740
Ensembl chr 7:74,851,202...74,858,921
G
S
Sdr39u1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:111,958...114,925
Ensembl chrNW_004936722:111,896...117,820
G
D
SDR39U1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,412,944...4,416,013
Ensembl chr 8:4,412,951...4,416,013
G
B
SDR39U1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,216,102...5,219,234
Ensembl chr14:23,339,388...23,342,423
G
C
Sdr39u1
short chain dehydrogenase/reductase family 39U member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,867,944...35,870,847
Ensembl chrNW_004955409:35,867,944...35,870,847
G
R
Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,348,057...33,350,892
Ensembl chr15:29,378,026...29,381,560
G
M
Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:56,134,742...56,137,802
Ensembl chr14:56,134,740...56,137,750
G
H
SDR39U1
short chain dehydrogenase/reductase family 39U member 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,439,766...24,442,843
Ensembl chr14:24,439,766...24,442,905
G
N
Sec23a
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,502,473...8,558,078
Ensembl chrNW_004624813:8,499,721...8,558,110
G
G
SEC23A
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:15,801,945...15,874,938
Ensembl chr24:15,801,509...15,874,994
G
P
SEC23A
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:61,113,760...61,184,218
Ensembl chr 7:61,113,802...61,193,258
G
S
Sec23a
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,643,790...12,702,390
Ensembl chrNW_004936494:12,642,870...12,699,218
G
D
SEC23A
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:17,205,960...17,292,067
Ensembl chr 8:17,234,394...17,292,638
G
B
SEC23A
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,802,612...19,873,076
Ensembl chr14:38,159,381...38,229,550
G
C
Sec23a
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,192,549...22,243,090
Ensembl chrNW_004955409:22,189,181...22,247,467
G
R
Sec23a
Sec23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,393,699...82,442,594
Ensembl chr 6:76,658,427...76,706,035
G
M
Sec23a
SEC23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,005,170...59,058,803
Ensembl chr12:59,005,169...59,058,803
G
H
SEC23A
SEC23 homolog A, COPII coat complex component
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
G
H
SFTA3
surfactant associated 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
ClinVar
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:33258288 More...
NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,207...36,521,149 Ensembl chr14:36,473,207...36,521,149
G
N
Slc22a17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,210,015...9,216,620
Ensembl chrNW_004624820:9,209,864...9,220,087
G
G
SLC22A17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,717,829...23,724,439
G
P
SLC22A17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,734,724...75,741,115
Ensembl chr 7:75,734,871...75,741,112
G
S
Slc22a17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,023,026...1,029,484
Ensembl chrNW_004936722:1,022,971...1,029,672
G
D
SLC22A17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,594,572...3,600,380
Ensembl chr 8:3,594,572...3,600,286
G
B
SLC22A17
solute carrier family 22 member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,165,419...4,172,002
Ensembl chr14:22,260,079...22,266,667
G
R
Slc22a17
solute carrier family 22, member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,352,273...32,358,780
Ensembl chr15:28,382,292...28,388,799
G
M
Slc22a17
solute carrier family 22 (organic cation transporter), member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,144,184...55,154,527
Ensembl chr14:55,143,761...55,150,589
G
H
SLC22A17
solute carrier family 22 member 17
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,346,311...23,352,887
Ensembl chr14:23,346,314...23,352,912
G
N
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:68,999...129,463
Ensembl chrNW_004624838:75,767...128,843
G
G
SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:13,472,050...13,974,991
Ensembl chr24:13,473,395...13,680,176
G
P
SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,808,126...63,326,634
Ensembl chr 7:62,810,937...63,325,625
G
S
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:10,675,534...11,157,829
Ensembl chrNW_004936494:10,676,235...11,156,083
G
D
SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:15,239,634...15,708,964
Ensembl chr 8:15,238,719...15,708,526
G
B
SLC25A21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:17,431,789...17,926,277
Ensembl chr14:35,794,557...35,990,633
G
C
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,949,794...24,421,944
Ensembl chrNW_004955409:23,952,595...24,421,307
G
R
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
G
M
Slc25a21
solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257
G
H
SLC25A21
solute carrier family 25 member 21
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606
G
N
Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:6,996,864...7,011,917
Ensembl chrNW_004624825:6,999,039...7,002,141
G
G
SLC39A2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,472,627...21,475,549
Ensembl chr29:21,473,123...21,475,252
G
P
SLC39A2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,127,628...78,132,900
Ensembl chr 7:78,129,237...78,131,819
G
S
Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:207,810...211,876
Ensembl chrNW_004936880:209,738...211,531
G
D
SLC39A2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,099,310...18,102,884
Ensembl chr15:18,100,785...18,102,896
G
B
SLC39A2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,813,992...1,818,226
Ensembl chr14:19,896,112...19,898,728
G
C
Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,762,905...1,765,254
Ensembl chrNW_004955550:1,762,907...1,765,254
G
R
Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
G
M
Slc39a2
solute carrier family 39 (zinc transporter), member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,130,539...52,134,202
Ensembl chr14:52,130,346...52,134,202
G
H
SLC39A2
solute carrier family 39 member 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:20,999,293...21,001,871
Ensembl chr14:20,999,255...21,001,871
G
N
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,692,057...9,757,251
Ensembl chrNW_004624820:9,708,482...9,757,251
G
G
SLC7A7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,135,583...23,183,472
Ensembl chr29:23,139,267...23,180,966
G
P
SLC7A7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402
G
S
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,464,252...1,523,786
Ensembl chrNW_004936722:1,478,240...1,527,121
G
D
SLC7A7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,132,735...3,209,259
Ensembl chr 8:3,133,139...3,165,832
G
B
SLC7A7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,590,781...3,637,588
Ensembl chr14:21,690,145...21,738,057
G
C
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,467,151...37,513,533
Ensembl chrNW_004955409:37,468,583...37,513,533
G
R
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:31,792,122...31,852,732
Ensembl chr15:27,822,091...27,865,648
G
M
Slc7a7
solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,606,899...54,657,525
Ensembl chr14:54,606,899...54,655,237
G
H
SLC7A7
solute carrier family 7 member 7
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
G
N
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,365,167...9,418,346
Ensembl chrNW_004624820:9,365,093...9,419,045
G
G
SLC7A8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,493,987...23,556,834
Ensembl chr29:23,493,715...23,556,857
G
P
SLC7A8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931
G
S
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:1,143,405...1,202,407
Ensembl chrNW_004936722:1,143,309...1,202,514
G
D
SLC7A8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985
G
B
SLC7A8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:3,945,123...4,003,574
Ensembl chr14:22,040,787...22,100,112
G
C
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:37,119,189...37,171,300
Ensembl chrNW_004955409:37,119,378...37,173,310
G
R
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,153,016...32,212,715
Ensembl chr15:28,183,015...28,242,717
G
M
Slc7a8
solute carrier family 7 (cationic amino acid transporter, y+ system), member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:54,959,672...55,019,343
Ensembl chr14:54,959,666...55,019,403
G
H
SLC7A8
solute carrier family 7 member 8
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674
G
N
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,105,558...2,146,064
Ensembl chrNW_004624838:2,105,619...2,145,268
G
G
SNX6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,389,436...11,433,126
Ensembl chr24:11,388,329...11,433,545
G
P
SNX6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,156,476...65,205,249
Ensembl chr 7:65,156,478...65,205,239
G
S
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:8,819,695...8,880,298
Ensembl chrNW_004936494:8,821,147...8,879,446
G
D
SNX6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,460,676...13,520,282
Ensembl chr 8:13,460,947...13,520,423
G
B
SNX6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,319,526...15,388,326
Ensembl chr14:33,511,019...33,576,705
G
C
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,323,940...26,353,675
Ensembl chrNW_004955409:26,319,951...26,352,994
G
R
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911
G
M
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,793,124...54,842,464
Ensembl chr12:54,793,134...54,842,488
G
H
SNX6
sorting nexin 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:34,561,093...34,630,148
Ensembl chr14:34,561,093...34,630,160
G
N
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,601,652...18,694,593
Ensembl chrNW_004624731:18,601,651...18,695,603
G
G
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:27,183,571...27,302,201
Ensembl chr24:27,182,991...27,302,141
G
P
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220
G
S
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936495:15,286,524...15,365,598
G
D
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,636,849...26,698,837
Ensembl chr 8:26,637,895...26,717,781
G
B
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764
G
C
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971
G
R
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,778,971...93,892,161
Ensembl chr 6:88,042,966...88,156,692
G
M
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,630,535...69,728,626
Ensembl chr12:69,630,536...69,728,626
G
H
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
G
N
Sptssa
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:2,207,003...2,231,838
Ensembl chrNW_004624838:2,206,917...2,231,518
G
G
SPTSSA
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,264,578...11,298,816
Ensembl chr24:11,266,343...11,298,668
G
P
SPTSSA
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:65,302,887...65,325,877
Ensembl chr 7:65,302,858...65,326,728
G
S
Sptssa
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:8,717,821...8,738,923
Ensembl chrNW_004936494:8,716,829...8,739,066
G
D
SPTSSA
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
G
B
SPTSSA
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:15,190,833...15,219,882
G
C
Sptssa
serine palmitoyltransferase small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:26,460,208...26,460,854
G
R
Sptssa
serine palmitoyltransferase, small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:77,879,931...77,891,344
Ensembl chr 6:72,144,714...72,156,214
G
M
Sptssa
serine palmitoyltransferase, small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:54,692,159...54,703,357
Ensembl chr12:54,692,177...54,703,358
G
H
SPTSSA
serine palmitoyltransferase small subunit A
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240
G
N
Srp54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624838:1,697,863...1,747,115
Ensembl chrNW_004624838:1,697,863...1,747,136
G
G
SRP54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:11,802,671...11,846,534
Ensembl chr24:11,812,672...11,846,675
G
P
SRP54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195
G
D
SRP54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:13,800,275...13,837,799
Ensembl chr 8:13,677,760...13,837,722
G
C
Srp54
signal recognition particle 54
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:25,977,226...26,016,351
Ensembl chrNW_004955409:25,977,226...26,016,351
G
H
SRP54
signal recognition particle 54
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
G
R
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:78,322,308...78,362,017
Ensembl chr 6:72,587,605...72,625,189
G
M
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152
G
N
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:7,538,104...7,543,836
Ensembl chrNW_004624813:7,539,304...7,540,479
G
G
SSTR1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:15,000,190...15,006,757
Ensembl chr24:15,003,116...15,004,291
G
P
SSTR1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:61,890,560...61,900,567
Ensembl chr 7:61,890,563...61,894,978
G
S
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,065,388...12,067,759
Ensembl chrNW_004936494:12,065,473...12,066,648
G
D
SSTR1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:16,571,069...16,575,730
G
B
SSTR1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:18,968,969...18,973,560
Ensembl chr14:37,329,309...37,330,484
G
C
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,889,800...22,894,480
Ensembl chrNW_004955409:22,889,800...22,894,480
G
R
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:81,567,237...81,571,759
Ensembl chr 6:75,832,530...75,836,802
G
M
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:58,258,524...58,262,822
Ensembl chr12:58,258,558...58,260,673
G
H
SSTR1
somatostatin receptor 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:38,207,904...38,213,067
Ensembl chr14:38,207,904...38,213,067
G
N
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:1,264,267...1,364,634
Ensembl chrNW_004624820:1,264,200...1,366,342
G
P
STRN3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:68,470,761...68,577,272
Ensembl chr 7:68,470,877...68,577,273
G
S
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:5,635,870...5,722,123
Ensembl chrNW_004936494:5,634,191...5,722,462
G
D
STRN3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:10,232,436...10,344,238
Ensembl chr 8:10,233,819...10,344,033
G
B
STRN3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:11,668,426...11,798,776
Ensembl chr14:29,869,414...29,997,838
G
C
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:29,529,507...29,636,674
G
R
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,783,156...74,869,473
Ensembl chr 6:69,047,776...69,134,102
G
M
Strn3
striatin, calmodulin binding protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:51,655,324...51,743,942
Ensembl chr12:51,656,415...51,738,680
G
H
STRN3
striatin 3
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,893,804...31,026,379
Ensembl chr14:30,893,799...31,026,401
G
N
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:7,450,825...7,724,175
Ensembl chrNW_004624820:7,450,857...7,724,304
G
G
STXBP6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,761,659...2,012,533
Ensembl chr24:1,758,660...2,012,322
G
P
STXBP6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:74,294,859...74,551,370
Ensembl chr 7:74,294,948...74,552,433
G
S
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:250,131...494,599
Ensembl chrNW_004936494:250,126...438,956
G
D
STXBP6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,638,376...4,877,589
Ensembl chr 8:4,641,460...4,877,030
G
B
STXBP6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,578,254...5,819,152
G
C
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:35,096,888...35,358,571
Ensembl chrNW_004955409:35,168,453...35,358,637
G
R
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024
G
M
Stxbp6
syntaxin binding protein 6 (amisyn)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:44,899,267...45,121,248
Ensembl chr12:44,899,267...45,121,492
G
H
STXBP6
syntaxin binding protein 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,809,454...25,050,147
Ensembl chr14:24,809,454...25,050,147
G
M
Supt16
SPT16, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,397,876...52,434,696
Ensembl chr14:52,397,871...52,434,873
G
N
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823
G
G
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,822,520...21,855,552
Ensembl chr29:21,822,393...21,855,923
G
P
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,780,968...77,814,519
Ensembl chr 7:77,781,316...77,814,505
G
S
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:511,699...545,364
Ensembl chrNW_004936880:508,244...545,369
G
D
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,387,624...18,429,553
Ensembl chr15:18,388,512...18,429,553
G
B
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074
G
C
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,074,646...2,114,634
Ensembl chrNW_004955550:2,074,941...2,114,528
G
R
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,341,196...27,378,314
Ensembl chr15:24,866,489...24,904,846
G
H
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
G
N
Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,239,087...8,252,716
Ensembl chrNW_004624820:8,239,904...8,252,541
G
G
TGM1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,231,827...1,248,018
Ensembl chr24:1,232,004...1,245,462
G
P
TGM1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300
G
S
Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:292,999...306,540
Ensembl chrNW_004936722:292,143...306,572
G
D
TGM1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,229,410...4,244,768
Ensembl chr 8:4,229,614...4,241,644
G
B
TGM1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,025,345...5,041,557
Ensembl chr14:23,148,905...23,162,477
G
R
Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,160,985...33,175,632
Ensembl chr15:29,191,041...29,204,523
G
M
Tgm1
transglutaminase 1, K polypeptide
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,937,466...55,951,378
Ensembl chr14:55,937,466...55,951,383
G
H
TGM1
transglutaminase 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
G
N
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,010,936...9,022,935
Ensembl chrNW_004624820:9,020,179...9,022,057
G
G
THTPA
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,883,363...23,930,710
Ensembl chr29:23,926,813...23,929,981
G
P
THTPA
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,548,430...75,553,721
Ensembl chr 7:75,545,973...75,552,904
G
S
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:858,119...904,630
Ensembl chrNW_004936722:855,975...863,098
G
D
THTPA
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,781,931...3,785,093
Ensembl chr 8:3,782,163...3,785,394
G
B
THTPA
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,374,439...4,378,028
Ensembl chr14:22,467,506...22,471,356
G
C
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,803,721...36,808,094
Ensembl chrNW_004955409:36,804,258...36,808,091
G
R
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,536,297...32,541,537
Ensembl chr15:28,567,323...28,571,580
G
M
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,332,241...55,336,452
Ensembl chr14:55,332,241...55,336,443
G
H
THTPA
thiamine triphosphatase
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,511,760...23,560,271
Ensembl chr14:23,555,988...23,560,271
G
N
Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,262,171...8,265,275
Ensembl chrNW_004624820:8,262,595...8,311,872
G
G
TINF2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,222,617...1,225,981
Ensembl chr24:1,222,999...1,225,716
G
P
TINF2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979
G
S
Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:320,171...323,703
Ensembl chrNW_004936722:320,917...324,492
G
D
TINF2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512
G
B
TINF2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:5,015,862...5,019,228
Ensembl chr14:23,139,445...23,142,825
G
R
Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,140,611...33,146,930
Ensembl chr15:29,170,652...29,176,984
G
M
Tinf2
Terf1 (TRF1)-interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277
G
H
TINF2
TERF1 interacting nuclear factor 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
G
N
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,345,959...8,352,280
Ensembl chrNW_004624820:8,343,776...8,352,095
G
G
TM9SF1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,174,808...1,181,558
Ensembl chr24:1,174,551...1,180,864
G
S
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:352,918...359,905
Ensembl chrNW_004936722:353,710...359,905
G
D
TM9SF1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,180,496...4,186,249
G
B
TM9SF1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,965,352...4,972,476
G
C
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,208,797...36,214,830
Ensembl chrNW_004955409:36,208,797...36,214,830
G
R
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,097,541...33,108,106
Ensembl chr15:29,127,584...29,135,349
G
M
Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,873,422...55,881,263
Ensembl chr14:55,873,422...55,881,263
G
H
TM9SF1
transmembrane 9 superfamily member 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,189,149...24,195,441
Ensembl chr14:24,189,149...24,195,687
G
N
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,093,627...7,098,746
Ensembl chrNW_004624825:7,095,542...7,097,636
G
G
TMEM253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,573,831...21,577,932
Ensembl chr29:21,574,780...21,576,691
G
P
TMEM253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,991,665...78,033,146
Ensembl chr 7:78,030,446...78,032,537
G
S
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:302,889...307,007
Ensembl chrNW_004936880:304,740...306,616
G
D
TMEM253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,187,622...18,194,700
Ensembl chr15:18,187,616...18,193,427
G
B
TMEM253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,913,655...1,917,874
G
C
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,862,781...1,867,230
Ensembl chrNW_004955550:1,862,719...1,866,822
G
R
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
G
M
Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,252,309...52,257,244
Ensembl chr14:52,253,115...52,257,251
G
H
TMEM253
transmembrane protein 253
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,098,836...21,103,724
Ensembl chr14:21,098,811...21,103,724
G
N
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:23,465,516...23,542,960
Ensembl chrNW_004624731:23,461,859...23,542,950
G
G
TOGARAM1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:22,078,938...22,195,923
Ensembl chr24:22,078,158...22,195,917
G
P
TOGARAM1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:175,198,172...175,274,309
Ensembl chr 1:175,198,385...175,275,159
G
S
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936583:4,213,853...4,298,916
Ensembl chrNW_004936583:4,213,847...4,298,945
G
D
TOGARAM1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:22,420,718...22,499,435
Ensembl chr 8:22,420,584...22,497,671
G
B
TOGARAM1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042
G
C
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641
G
R
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,755,264...88,819,599
Ensembl chr 6:83,018,859...83,082,807
G
M
Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347
G
H
TOGARAM1
TOG array regulator of axonemal microtubules 1
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
G
N
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,493,911...7,511,852
Ensembl chrNW_004624825:7,493,953...7,511,846
G
G
TOX4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,946,311...21,966,197
Ensembl chr29:21,945,901...21,965,740
G
P
TOX4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:77,679,405...77,698,952
Ensembl chr 7:77,678,475...77,698,917
G
S
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:628,316...646,006
Ensembl chrNW_004936880:627,576...646,006
G
D
TOX4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,512,270...18,528,293
Ensembl chr15:18,512,327...18,528,516
G
B
TOX4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:2,294,892...2,316,901
Ensembl chr14:20,371,820...20,393,696
G
C
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:2,195,710...2,209,729
Ensembl chrNW_004955550:2,195,710...2,209,729
G
R
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
G
M
Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,516,603...52,532,966
Ensembl chr14:52,516,603...52,533,858
G
H
TOX4
TOX high mobility group box family member 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,477,195...21,499,170
Ensembl chr14:21,476,597...21,499,175
G
N
Tppp2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,021,146...7,023,129
Ensembl chrNW_004624825:7,021,639...7,023,027
G
G
TPPP2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,503,616...21,505,890
Ensembl chr29:21,504,299...21,505,799
G
P
TPPP2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,106,126...78,108,570
Ensembl chr 7:78,105,215...78,110,405
G
S
Tppp2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:230,626...232,540
Ensembl chrNW_004936880:230,626...232,540
G
D
TPPP2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,118,516...18,126,661
Ensembl chr15:18,119,594...18,126,663
G
B
TPPP2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,839,314...1,847,789
Ensembl chr14:19,927,478...19,928,973
G
C
Tppp2
tubulin polymerization promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,779,405...1,785,385
Ensembl chrNW_004955550:1,779,375...1,785,575
G
R
Tppp2
tubulin polymerization-promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,087,457...27,090,869
Ensembl chr15:24,614,006...24,618,967
G
M
Tppp2
tubulin polymerization-promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,155,887...52,158,161
Ensembl chr14:52,155,882...52,158,157
G
H
TPPP2
tubulin polymerization promoting protein family member 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,024,299...21,036,352
Ensembl chr14:21,024,109...21,036,276
G
H
TRA
T cell receptor alpha locus
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,621,904...22,552,132
G
N
Trappc6b
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624813:8,598,451...8,615,687
Ensembl chrNW_004624813:8,600,536...8,615,746
G
G
TRAPPC6B
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:15,921,318...15,943,926
Ensembl chr24:15,922,995...15,943,842
G
P
TRAPPC6B
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:169,710,948...169,722,782
Ensembl chr 1:169,709,558...169,722,735
G
S
Trappc6b
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:12,740,268...12,758,697
Ensembl chrNW_004936494:12,740,268...12,758,662
G
D
TRAPPC6B
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:17,335,060...17,350,163
Ensembl chr 8:17,336,154...17,350,000
G
B
TRAPPC6B
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:19,917,745...19,940,589
Ensembl chr14:38,273,526...38,296,231
G
C
Trappc6b
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:22,117,329...22,131,102
Ensembl chrNW_004955409:22,117,329...22,134,236
G
R
Trappc6b
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
G
M
Trappc6b
trafficking protein particle complex 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:59,089,878...59,108,258
Ensembl chr12:59,089,878...59,108,258
G
H
TRAPPC6B
trafficking protein particle complex subunit 6B
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532
G
N
Tssk4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:8,285,440...8,345,918
Ensembl chrNW_004624820:8,286,307...8,289,604
G
G
TSSK4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:1,181,695...1,191,387
Ensembl chr24:1,189,063...1,191,287
G
P
TSSK4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,094,921...75,104,189
Ensembl chr 7:75,094,926...75,106,331
G
S
Tssk4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:345,698...348,531
Ensembl chrNW_004936722:346,070...348,418
G
D
TSSK4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:4,192,060...4,195,052
Ensembl chr 8:4,192,230...4,194,685
G
B
TSSK4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,980,178...4,984,291
Ensembl chr14:23,104,197...23,108,037
G
C
Tssk4
testis specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,190,182...36,191,801
G
R
Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:33,108,248...33,114,083
Ensembl chr15:29,141,792...29,144,128
G
M
Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,880,893...55,889,996
Ensembl chr14:55,887,641...55,889,996
G
H
TSSK4
testis specific serine kinase 4
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:24,205,696...24,208,248
Ensembl chr14:24,205,696...24,208,362
G
N
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624955:240,060...486,195
G
G
TTC6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:14,418,650...14,626,637
Ensembl chr24:14,431,804...14,626,210
G
P
TTC6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:62,228,528...62,444,503
Ensembl chr 7:62,228,058...62,454,627
G
S
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936494:11,555,002...11,744,814
G
D
TTC6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:16,177,345...16,282,540
Ensembl chr 8:16,108,988...16,282,207
G
B
TTC6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:18,363,956...18,601,589
Ensembl chr14:36,740,892...36,962,078
G
C
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:23,349,294...23,580,993
Ensembl chrNW_004955409:23,348,460...23,568,749
G
R
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
G
M
Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:57,593,490...57,784,697
Ensembl chr12:57,610,899...57,784,714
G
H
TTC6
tetratricopeptide repeat domain 6
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:37,595,629...37,842,717
Ensembl chr14:37,595,629...38,041,442
G
N
Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624731:18,694,765...18,704,199
Ensembl chrNW_004624731:18,694,647...18,704,199
G
G
VCPKMT
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr24:27,173,859...27,182,941
Ensembl chr24:27,173,840...27,182,924
G
P
VCPKMT
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 1:179,899,642...179,907,439
Ensembl chr 1:179,899,646...179,906,967
G
S
Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004940197:408...5,645
Ensembl chrNW_004940197:1,070...5,090
G
D
VCPKMT
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:26,611,333...26,636,700
Ensembl chr 8:26,625,677...26,636,316
G
B
VCPKMT
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187
G
C
Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:12,622,259...12,632,246
Ensembl chrNW_004955409:12,622,259...12,632,246
G
R
Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:93,772,558...93,778,400
Ensembl chr 6:88,036,494...88,042,000
G
M
Vcpkmt
valosin containing protein lysine (K) methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr12:69,623,504...69,629,883
Ensembl chr12:69,624,402...69,629,884
G
H
VCPKMT
valosin containing protein lysine methyltransferase
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:50,102,716...50,116,572
Ensembl chr14:50,108,632...50,116,600
G
N
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624820:9,025,569...9,057,084
Ensembl chrNW_004624820:9,041,153...9,053,975
G
G
ZFHX2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:23,891,343...23,926,507
Ensembl chr29:23,892,443...23,905,767
G
P
ZFHX2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:75,554,876...75,586,782
Ensembl chr 7:75,552,618...75,586,132
G
S
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936722:865,197...895,848
Ensembl chrNW_004936722:864,735...895,848
G
D
ZFHX2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 8:3,750,043...3,782,679
Ensembl chr 8:3,750,230...3,763,829
G
B
ZFHX2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:4,339,326...4,370,756
Ensembl chr14:22,433,148...22,463,925
G
C
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955409:36,810,188...36,843,108
Ensembl chrNW_004955409:36,827,360...36,839,783
G
R
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:32,501,755...32,541,720
Ensembl chr15:28,533,156...28,565,128
G
M
Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:55,297,722...55,329,875
Ensembl chr14:55,297,719...55,329,781
G
H
ZFHX2
zinc finger homeobox 2
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:23,520,857...23,555,952
Ensembl chr14:23,520,857...23,556,192
G
R
Zfp219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,169,335...27,183,555
Ensembl chr15:24,695,837...24,710,030
G
M
Zfp219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:52,243,532...52,258,597
Ensembl chr14:52,243,534...52,258,190
G
N
Znf219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004624825:7,084,757...7,098,942
Ensembl chrNW_004624825:7,084,757...7,090,725
G
G
ZNF219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr29:21,563,758...21,578,127
Ensembl chr29:21,564,213...21,567,247
G
P
ZNF219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 7:78,028,560...78,043,491
Ensembl chr 7:78,035,228...78,043,464
G
S
Znf219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004936880:293,874...308,160
Ensembl chrNW_004936880:289,876...298,243
G
D
ZNF219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:18,178,861...18,186,650
Ensembl chr15:18,180,901...18,192,773
G
B
ZNF219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:1,904,632...1,919,304
Ensembl chr14:19,986,653...20,000,300
G
C
Znf219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chrNW_004955550:1,854,330...1,861,836
G
H
ZNF219
zinc finger protein 219
IAGP
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr14:21,090,077...21,104,722
Ensembl chr14:21,090,077...21,104,722
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Erf
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629
G
G
ERF
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chr 6:36,452,604...36,460,188
Ensembl chr 6:36,452,577...36,460,122
G
P
ERF
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chr 6:49,678,858...49,686,422
Ensembl chr 6:49,678,888...49,685,538
G
S
Erf
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
G
D
ERF
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077
G
B
ERF
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808
G
C
Erf
ETS2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277
G
R
Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chr 1:89,957,760...89,966,213
Ensembl chr 1:80,829,935...80,838,388
G
M
Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186
G
H
ERF
ETS2 repressor factor
IAGP
ClinVar Annotator: match by term: Chitayat syndrome
OMIM ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 PMID:35852485 More...
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
B
LOC103783265
pulmonary surfactant-associated protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr10:76,571,312...76,575,820
G
D
LOC610540
pulmonary surfactant-associated protein A-like
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 4:29,430,139...29,434,640
G
N
Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337
G
G
SERPINE1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
G
P
SERPINE1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
S
Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
G
D
SERPINE1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
G
B
SERPINE1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
G
C
Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
G
R
Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
G
M
Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
IMP
RGD
PMID:8981909
RGD:4144850
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
H
SERPINE1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
G
P
SFTPA1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
G
R
Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,008,180...17,011,685
G
M
Sftpa1
surfactant associated protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409
G
H
SFTPA1
surfactant protein A1
IAGP
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
G
N
Sftpc
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
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
RGD
PMID:9655740
RGD:4143444
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
RGD
PMID:9655740
RGD:4143444
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
G
S
Sftpc
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
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
RGD
PMID:9655740
RGD:4143444
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
G
B
SFTPC
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
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
RGD
PMID:9655740
RGD:4143444
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
RGD
PMID:9655740
RGD:4143444
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777
G
M
Sftpc
surfactant associated protein C
ISO
RGD
PMID:9655740
RGD:4143444
NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521
G
H
SFTPC
surfactant protein C
IDA
RGD
PMID:9655740
RGD:4143444
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513
G
G
COL2A1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468
G
P
COL2A1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
G
S
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853
G
D
COL2A1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
G
B
COL2A1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chr12:40,726,137...40,757,690
G
C
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia
OMIM ClinVar
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
G
R
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546
G
M
Col2a1
collagen, type II, alpha 1
ISO
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
G
H
COL2A1
collagen type II alpha 1 chain
IAGP EXP
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30138938 PMID:30408610 PMID:30792901 PMID:33249554 PMID:34394176 More...
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130
G
G
HSPG2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr20:110,693,858...110,809,467
Ensembl chr20:110,693,854...110,809,466
G
P
HSPG2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334
G
S
Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851
G
D
HSPG2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724
G
B
HSPG2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
G
C
Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280
G
R
Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:149,677,476...149,778,594
G
M
Hspg2
perlecan (heparan sulfate proteoglycan 2)
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941
G
H
HSPG2
heparan sulfate proteoglycan 2
IAGP
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:24828792 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:26934580 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29476074 PMID:29620724 PMID:29901129 PMID:29970176 PMID:30362252 PMID:30646882 PMID:30753492 PMID:31127727 PMID:31697823 PMID:32231685 PMID:33652732 PMID:34244600 PMID:34529350 PMID:34906502 PMID:35982159 PMID:36619171 PMID:37784196 PMID:38278647 PMID:39035772 More...
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
G
N
Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chrNW_004624764:6,631,231...6,639,010
G
G
LDLRAD2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr20:110,809,660...110,817,967
G
P
LDLRAD2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr 6:79,837,734...79,850,311
Ensembl chr 6:79,838,616...79,849,661
G
S
Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chrNW_004936474:7,375,439...7,407,318
G
D
LDLRAD2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126
G
B
LDLRAD2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
G
C
Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chrNW_004955452:2,031,868...2,057,264
G
R
Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr 5:155,062,172...155,070,752
Ensembl chr 5:149,779,675...149,787,140
G
M
Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr 4:137,298,185...137,309,429
Ensembl chr 4:137,298,187...137,309,415
G
H
LDLRAD2
low density lipoprotein receptor class A domain containing 2
IAGP
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:24828792 PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:32231685 PMID:39035772 More...
NCBI chr 1:21,812,265...21,825,225
Ensembl chr 1:21,812,265...21,825,225
G
H
LOC126805655
CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608
IAGP
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:21,851,916...21,853,115
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all