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: Endocrine Bone Diseases
Accession: DOID:9007819
browse the term
Definition: Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands.
Synonyms: exact_synonym: Endocrine Bone Disease
primary_id: MESH:D001849
alt_id: RDO:0004719
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Pdgfa
platelet derived growth factor subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18635661
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18635661
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1682667 PMID:3059976 PMID:6237480 PMID:7440347 PMID:9186818 PMID:18381583 PMID:18388193 More...
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11254676
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1682667 PMID:9186818 PMID:18381583 PMID:18388193
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Alazami syndrome
ClinVar
PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:28333917 PMID:28492532 PMID:28575650 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 PMID:25753663 PMID:26374271 PMID:26539891 PMID:26607181 PMID:28492532 PMID:29619239 PMID:30006060 PMID:30426380 PMID:31074943 PMID:32860008 More...
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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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
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Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
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Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
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Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
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Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
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Ang
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,711...24,323,361
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Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
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Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
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Arf6
ADP-ribosylation factor 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114
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Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
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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
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Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
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Bcl2l2
Bcl2-like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,266,673...73,300,630
Ensembl chr 6:73,266,691...73,300,631
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C15h14orf119
similar to human chromosome 14 open reading frame 119
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
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C15h14orf93
similar to human chromosome 14 open reading frame 93
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
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C6h14orf28
similar to human chromosome 14 open reading frame 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
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Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
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Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
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Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
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Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
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Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
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Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
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Cideb
cell death-inducing DFFA-like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
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Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612
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Cma1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
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Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
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Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
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Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
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Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,677,286...27,697,120
Ensembl chr15:27,677,268...27,697,347
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Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
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Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
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Dhrs2
dehydrogenase/reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
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Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
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Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
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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
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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
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Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
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Egln3
egl-9 family hypoxia-inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
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Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
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Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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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
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Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
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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
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Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,527,849...82,530,641
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G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
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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
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Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
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Gpr33-ps1
G protein-coupled receptor 33, pseudogene 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
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Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
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Gzmf
granzyme F
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
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Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
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Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
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Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053
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Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
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Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
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Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
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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
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Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
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Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
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Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
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Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424
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Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187
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Klhl28
kelch-like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
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L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
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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
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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
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Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
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Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
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Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,263,199...29,265,716
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Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
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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
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Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126
G
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
G
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
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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 chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
G
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
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811
G
Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,425,570...28,425,652
G
Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
G
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
Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
G
Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
G
Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
G
Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
G
Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
G
Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
G
Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841
G
Nfatc4
nuclear factor of activated T-cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
G
Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
G
Nkx2-1
NK2 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress DNA:missense mutation exon:p.L224R (c.671T>G) (human) DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
OMIM CTD ClinVar 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:26839702 PMID:23911641 PMID:18788921 PMID:23379327 More...
RGD:12914770 , RGD:12914768 , RGD:11073166 , RGD:12914769
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
G
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977
G
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
G
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
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
G
Nubpl
NUBP iron-sulfur cluster assembly factor like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
G
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
G
Or10g1b
olfactory receptor family 10 subfamily G member 1B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188
G
Or10g3
olfactory receptor family 10 subfamily G member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615
G
Or4e2
olfactory receptor family 4 subfamily E member 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297
G
Or5au1
olfactory receptor family 5 subfamily AU member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
G
Oxa1l
OXA1L, mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
G
Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
G
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
G
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
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
G
Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
G
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
G
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
G
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
G
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
G
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
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
G
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,084,736...28,085,655
G
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
G
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
G
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
G
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
G
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
G
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
G
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
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
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
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
Rnase2
ribonuclease A family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
G
Rnase3
ribonuclease A family member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
Rnase4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
G
Rnase6
ribonuclease A family member 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
G
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
G
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
G
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
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
G
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
G
Sall2
spalt-like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
G
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
G
Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
G
Sec23a
Sec23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
G
Slc22a17
solute carrier family 22, member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
G
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
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
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
G
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
G
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
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
G
Sptssa
serine palmitoyltransferase, small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
G
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
G
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
G
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
G
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
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
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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
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Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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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
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Tppp2
tubulin polymerization-promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
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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
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Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
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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
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Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
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Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
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Zfp219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
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Iars2
isoleucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
OMIM ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 PMID:33327715 PMID:33972171 More...
NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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Chmp2b
charged multivesicular body protein 2B
ISO
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181
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Lhx3
LIM homeobox 3
ISO
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive
ClinVar
NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Pou1f1
POU class 1 homeobox 1
ISO
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341
NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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Prop1
PROP paired-like homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2
OMIM CTD ClinVar
PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 PMID:10323394 PMID:10599689 PMID:10946881 PMID:11081182 PMID:11134108 PMID:11549674 PMID:11549703 PMID:12153609 PMID:12519826 PMID:12859410 PMID:14614227 PMID:15126542 PMID:15472232 PMID:15531542 PMID:15670191 PMID:15941866 PMID:15963055 PMID:16131601 PMID:16199547 PMID:16544023 PMID:16735499 PMID:16759034 PMID:16984240 PMID:17526936 PMID:17526949 PMID:18157385 PMID:19128366 PMID:20381582 PMID:20981092 PMID:21132537 PMID:21863341 PMID:22024773 PMID:22111336 PMID:23624138 PMID:24033266 PMID:25557026 PMID:25741868 PMID:26059845 PMID:26111865 PMID:26467025 PMID:26608600 PMID:26886902 PMID:27013732 PMID:27756091 PMID:28492532 PMID:28734020 PMID:30266296 PMID:32319661 PMID:32870266 PMID:32894409 PMID:33270637 PMID:36268624 PMID:36407308 PMID:36984475 PMID:38096238 More...
NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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Lhx3
LIM homeobox 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
OMIM CTD ClinVar
PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 PMID:17327381 PMID:17438671 PMID:18407919 PMID:19837867 PMID:21249393 PMID:22286346 PMID:25741868 PMID:28492532 PMID:29261175 PMID:30262920 PMID:32870266 More...
NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Arpc5
actin related protein 2/3 complex, subunit 5
IEP
protein:decreased expression:frontal cortex (rat)
RGD
PMID:23459330
RGD:11049475
NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
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Atp5pd
ATP synthase peripheral stalk subunit d
IEP
protein:altered expression:cerebral cortex (rat)
RGD
PMID:21575372
RGD:11049155
NCBI chr10:100,657,700...100,662,960
Ensembl chr10:100,657,708...100,663,479
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Bglap
bone gamma-carboxyglutamate protein
IDA
mRNA,protein:decreased expression:skull, serum
RGD
PMID:7920889
RGD:6483557
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Duox2
dual oxidase 2
ISO ISS
ClinVar Annotator: match by term: Congenital hypothyroidism CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD RGD
PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 PMID:16608528 PMID:17121535 PMID:18765513 PMID:19789206 PMID:20972728 PMID:21565790 PMID:24033266 PMID:24423310 PMID:24735383 PMID:25741868 PMID:26990548 PMID:27525530 PMID:27557340 PMID:27821020 PMID:28492532 PMID:28666341 PMID:30084132 PMID:30240412 PMID:30487145 PMID:31044655 PMID:32765423 PMID:12110737 More...
RGD:734905
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
PMID:25741868 PMID:28492532 PMID:31980526 PMID:33651715 PMID:33692749
NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
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Egr1
early growth response 1
IEP
RGD
PMID:23079472
RGD:10395304
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:29330744
RGD:405650592
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Foxe1
forkhead box E1
ISS
MouseDO
NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
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G6pd
glucose-6-phosphate dehydrogenase
IEP
protein:decreased expression:hippocampus
RGD
PMID:23693027
RGD:10449124
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gh1
growth hormone 1
treatment
IEP
RGD
PMID:21162131
RGD:10003146
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Ghr
growth hormone receptor
treatment
IEP
RGD
PMID:21162131
RGD:10003146
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Igf1
insulin-like growth factor 1
IEP
protein:decreased expression:serum (rat)
RGD
PMID:1718729
RGD:12910128
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igsf1
immunoglobulin superfamily, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143598
NCBI chr X:129,069,891...129,085,331
Ensembl chr X:129,069,896...129,085,139
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Inhbb
inhibin subunit beta B
IEP
mRNA:decreased expression:testes (rat)
RGD
PMID:7819453
RGD:9743921
NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
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Iyd
iodotyrosine deiodinase
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
PMID:25741868
NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319
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Nefh
neurofilament heavy chain
IDA
protein:decreased expression, increased phosphorylation
RGD
PMID:18845185
RGD:9693732
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
IDA
protein:decreased expression, increased phosphorylation
RGD
PMID:18845185
RGD:9693732
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Nefm
neurofilament medium chain
IDA
protein:decreased expression, increased phosphorylation
RGD
PMID:18845185
RGD:9693732
NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
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Ngfr
nerve growth factor receptor
treatment
IEP
RGD
PMID:23312094
RGD:10414076
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Pax8
paired box 8
ISO ISS
nongoitrous congenital hypothyroidism 2, OMIM:218700 ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar MouseDO RGD
PMID:16763387 PMID:25146893 PMID:26362610 PMID:9590296
RGD:1600298
NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
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Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA:decreased expression:cerebellum (rat)
RGD
PMID:20515651
RGD:10059677
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Runx2
RUNX family transcription factor 2
ISS
MouseDO
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Slc26a4
solute carrier family 26 member 4
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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Slc26a7
solute carrier family 26 member 7
ISO ISS
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar MouseDO
PMID:31372509
NCBI chr 5:27,884,400...28,021,865
Ensembl chr 5:27,887,042...28,021,658
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Slc5a5
solute carrier family 5 member 5
ISO
iodide transport defect, OMIM:274400;DNA:point mutation:exon:T354P ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar RGD
PMID:3998954 PMID:10487695 PMID:28492532 PMID:30240412 PMID:33692749 PMID:9171822 More...
RGD:1624273
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Tg
thyroglobulin
ISS ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
MouseDO ClinVar
PMID:2584351 PMID:7593451 PMID:8325944 PMID:9588493 PMID:10404833 PMID:11484898 PMID:14764776 PMID:15611820 PMID:15769978 PMID:16403815 PMID:16720658 PMID:17532758 PMID:19438905 PMID:19509106 PMID:19837936 PMID:20410234 PMID:21128992 PMID:21372558 PMID:23035660 PMID:23164529 PMID:23457313 PMID:25741868 PMID:28444304 PMID:28492532 PMID:31430255 PMID:33692749 PMID:34248839 More...
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tpo
thyroid peroxidase
ISO ISS
total iodide organification defect, OMIM:274500 ClinVar Annotator: match by term: Congenital hypothyroidism CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:12564727 PMID:14751036 PMID:16187919 PMID:17381485 PMID:25741868 PMID:28492532 PMID:7550241 More...
RGD:1599648
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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Trhr
thyrotropin releasing hormone receptor
ISS
MouseDO
NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
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Tshb
thyroid stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Tshr
thyroid stimulating hormone receptor
ISO ISS IMP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital hypothyroidism
CTD MouseDO ClinVar RGD
PMID:11442002 PMID:12629076 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 PMID:19506388 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22405933 PMID:22876533 PMID:23926367 PMID:24033266 PMID:24895636 PMID:25741868 PMID:26709262 PMID:27084275 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:30083029 PMID:31356790 PMID:29507327 More...
RGD:150521601
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
IMP
RGD
PMID:29507327
RGD:150521601
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Tubb1
tubulin, beta 1 class VI
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
PMID:25741868 PMID:28492532 PMID:28983057 PMID:30446499 PMID:32757236 PMID:34516618 PMID:34662886 More...
NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063
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Cep128
centrosomal protein 128
ISO
ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar
PMID:1955520 PMID:8954020 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:16060907 PMID:16117192 PMID:17062880 PMID:17705697 PMID:18727713 PMID:19417038 PMID:21186955 PMID:21642385 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30372544 PMID:32368696 PMID:34780050 More...
NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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Igsf1
immunoglobulin superfamily, member 1
ISO
ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:129,069,891...129,085,331
Ensembl chr X:129,069,896...129,085,139
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Tpo
thyroid peroxidase
ISO
ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar
PMID:25741868
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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Tshr
thyroid stimulating hormone receptor
treatment
IMP ISO
ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE
ClinVar RGD
PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9329388 PMID:9385128 PMID:9589634 PMID:9589691 PMID:10037069 PMID:10560953 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16060907 PMID:16117192 PMID:16756469 PMID:17062880 PMID:17524032 PMID:17526952 PMID:17697008 PMID:17705697 PMID:17953807 PMID:18379122 PMID:18727713 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19417038 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21186955 PMID:21490078 PMID:21586576 PMID:21642385 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22112806 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23329763 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:26864598 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 PMID:29092890 PMID:29650690 PMID:30083029 PMID:30240412 PMID:30372544 PMID:31356790 PMID:32368696 PMID:32425884 PMID:32469330 PMID:33653783 PMID:34200080 PMID:34234053 PMID:34374102 PMID:34539567 PMID:34780050 PMID:36913313 PMID:29507327 More...
RGD:150521601
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Tshrem1Mlit
thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit
treatment
IMP
RGD
PMID:29507327
RGD:150521601
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Cep128
centrosomal protein 128
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar
PMID:1955520 PMID:8954020 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:16060907 PMID:16117192 PMID:17062880 PMID:17705697 PMID:18727713 PMID:19417038 PMID:21186955 PMID:21642385 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30372544 PMID:32368696 PMID:34780050 More...
NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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Igsf1
immunoglobulin superfamily, member 1
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:129,069,891...129,085,331
Ensembl chr X:129,069,896...129,085,139
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Tpo
thyroid peroxidase
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar
PMID:25741868
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
G
Tshr
thyroid stimulating hormone receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
CTD ClinVar
PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9329388 PMID:9385128 PMID:9589634 PMID:9589691 PMID:10037069 PMID:10560953 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16060907 PMID:16117192 PMID:16756469 PMID:17062880 PMID:17524032 PMID:17526952 PMID:17697008 PMID:17705697 PMID:17953807 PMID:18379122 PMID:18727713 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19417038 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21186955 PMID:21490078 PMID:21586576 PMID:21642385 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22112806 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23329763 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:26864598 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 PMID:29092890 PMID:29650690 PMID:30083029 PMID:30240412 PMID:30372544 PMID:31356790 PMID:32368696 PMID:32425884 PMID:32469330 PMID:33653783 PMID:34200080 PMID:34234053 PMID:34374102 PMID:34539567 PMID:34780050 PMID:36913313 More...
NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: Ectopic thyroid
ClinVar
PMID:32989326 PMID:33675180
NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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Pax8
paired box 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
OMIM CTD ClinVar
PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 PMID:12116225 PMID:15356023 PMID:15718293 PMID:17437516 PMID:17980011 PMID:20302910 PMID:23647375 PMID:25741868 PMID:28060725 PMID:28444304 PMID:28492532 PMID:29159607 PMID:30222900 More...
NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
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Ttf1
transcription termination factor 1
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
ClinVar
PMID:25741868
NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257
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Tshb
thyroid stimulating hormone subunit beta
ISO
ClinVar Annotator: match by term: Pituitary cretinism
OMIM ClinVar
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:15297803 PMID:17576681 PMID:22606512 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27362444 PMID:27387040 PMID:28492532 PMID:31166470 PMID:34780050 More...
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Nkx2-5
NK2 homeobox 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5
OMIM CTD ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21110066 PMID:22920929 PMID:23285148 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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Nr1d1
nuclear receptor subfamily 1, group D, member 1
ISO
ClinVar Annotator: match by term: Congenital nongoitrous hypothyroidism 6
ClinVar
PMID:11075809 PMID:25741868 PMID:34008892
NCBI chr10:83,728,348...83,735,562
Ensembl chr10:83,728,318...83,735,705
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Thra
thyroid hormone receptor alpha
ISO
ClinVar Annotator: match by term: Congenital nongoitrous hypothyroidism 6
OMIM ClinVar
PMID:7501015 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 PMID:25670821 PMID:25741868 PMID:28492532 PMID:28932413 PMID:30817817 PMID:34008892 More...
NCBI chr10:83,701,885...83,729,408
Ensembl chr10:83,700,755...83,729,936
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Trhr
thyrotropin releasing hormone receptor
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7
OMIM ClinVar
PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241
NCBI chr 7:75,348,672...75,393,310
Ensembl chr 7:75,348,672...75,393,309
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Tbl1x
transducin (beta)-like 1 X-linked
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8
OMIM ClinVar
PMID:25741868 PMID:27603907 PMID:30591955
NCBI chr X:41,574,558...41,731,117
Ensembl chr X:41,576,047...41,731,101
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Irs4
insulin receptor substrate 4
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9
OMIM ClinVar
PMID:25741868 PMID:30061370
NCBI chr X:105,344,020...105,360,004
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Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis
ClinVar
PMID:12110737 PMID:16199547 PMID:16322276 PMID:18765513 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:24735383 PMID:25248169 PMID:25741868 PMID:26709262 PMID:26990548 PMID:27525530 PMID:27821020 PMID:28492532 PMID:28666341 PMID:29092890 PMID:29650690 PMID:30084132 PMID:30240412 PMID:30487145 PMID:31044655 PMID:32765423 More...
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Slc5a5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect
ClinVar
PMID:25741868
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Tg
thyroglobulin
ISO
ClinVar Annotator: match by term: Thyroid dyshormonogenesis
ClinVar
PMID:28492532
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Ankrd26
ankyrin repeat domain containing 26
ISO
RGD
PMID:18162531
RGD:9681744
NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
DNA:missense mutation:cds:6605G>A(p.C2202Y)(human)
RGD
PMID:16222665
RGD:11568154
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Ghr
growth hormone receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
OMIM CTD ClinVar
PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 PMID:10984309 PMID:11502828 PMID:12217488 PMID:12910492 PMID:17274879 PMID:17462934 PMID:21525302 PMID:21846964 PMID:21900382 PMID:24150201 PMID:25741868 PMID:26467025 PMID:27408750 PMID:28492532 PMID:28498917 PMID:32171629 PMID:32502767 PMID:36123965 More...
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Ghsr
growth hormone secretagogue receptor
ISO
ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
ClinVar
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
DNA:missense mutation:exon:p.L127P (c.380T>C) (human)
RGD
PMID:23488611
RGD:12910853
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Spag17
sperm associated antigen 17
ISO
DNA:snp:enhancer:C>G (rs17038182) (human)
RGD
PMID:19893584
RGD:11535959
NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
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Adnp
activity-dependent neuroprotector homeobox
ISO
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28492532 PMID:29475819 PMID:29724491 PMID:29911927 More...
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Gh1
growth hormone 1
ISO
DNA:deletions: : ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency
ClinVar RGD
PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 PMID:16741161 PMID:17223997 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:23182822 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30753492 PMID:33729509 PMID:27114065 More...
RGD:12904703
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Ghr
growth hormone receptor
ISO
Laron syndrome,OMIM:262500;DNA:deletion
RGD
PMID:2813379
RGD:1601315
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Ghrhr
growth hormone releasing hormone receptor
IAGP ISO
DNA:deletion ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar RGD
PMID:9845677 PMID:8528260
RGD:1601338 , RGD:1601337
NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
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Ghsr
growth hormone secretagogue receptor
IEP
mRNA:increased expression:pituitary:
RGD
PMID:9822798
RGD:12904721
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Hpca
hippocalcin
ISO
protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse)
RGD
PMID:7882001
RGD:9693682
NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
protein:decreased expression:serum
RGD
PMID:11248743
RGD:12910859
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Pou1f1
POU class 1 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9392392
NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
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Rnpc3
RNA-binding region (RNP1, RRM) containing 3
ISO
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar
PMID:24480542 PMID:29255062
NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747
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Tg
thyroglobulin
IAGP
RGD
PMID:11089535 PMID:3366187
RGD:730133 , RGD:12880373
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Tgrdw
thyroglobulin; rdw mutant
IAGP
RGD
PMID:3366187 PMID:11089535
RGD:12880373 , RGD:730133
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive
ClinVar
PMID:24389050 PMID:25558065
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Cript
CXXC repeat containing interactor of PDZ3 domain
ISO
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar
PMID:24389050 PMID:25558065
NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399
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Dna2
DNA replication helicase/nuclease 2
ISO
DNA:mutation:cds:
RGD
PMID:24389050
RGD:8694132
NCBI chr20:25,661,652...25,690,598
Ensembl chr20:25,662,055...25,716,319
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Gh1
growth hormone 1
ISO
DNA:deletion: : ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34850017 PMID:36672771 PMID:14594175 More...
RGD:12904729
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Ghrh
growth hormone releasing hormone
ISS
OMIM:262400
MouseDO
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
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Ghrhr
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B
ClinVar
PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 PMID:12414875 PMID:16284391 PMID:19622623 PMID:21044116 PMID:25741868 PMID:28492532 More...
NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
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Poc1a
POC1 centriolar protein A
ISO
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar
PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 PMID:26791357 PMID:28492532 More...
NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
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Xrcc4
X-ray repair cross complementing 4
ISO
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar
PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Gh1
growth hormone 1
ISO
ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Idiopathic growth hormone deficiency | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8496314 PMID:8530604 PMID:9152628 PMID:9385381 PMID:10372722 PMID:10445339 PMID:10469016 PMID:10678654 PMID:10689634 PMID:11836331 PMID:12655557 PMID:15001589 PMID:17178704 PMID:18160466 PMID:18950677 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34850017 PMID:36672771 More...
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Ghrhr
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
OMIM ClinVar
PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 PMID:10944436 PMID:10946881 PMID:11232012 PMID:11298081 PMID:11443201 PMID:11502843 PMID:11875102 PMID:12163232 PMID:12181638 PMID:12414875 PMID:12444890 PMID:12534354 PMID:12788864 PMID:12794696 PMID:15196883 PMID:15336233 PMID:16135671 PMID:16199547 PMID:16284391 PMID:16355809 PMID:16522693 PMID:17356054 PMID:17911170 PMID:18297129 PMID:18785993 PMID:19567534 PMID:19622623 PMID:21044116 PMID:22489751 PMID:23052699 PMID:25153028 PMID:25541890 PMID:25741868 PMID:27114065 PMID:28492532 PMID:29412390 PMID:31231873 PMID:32894409 PMID:33060564 PMID:34006472 PMID:34589056 More...
NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
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Gh1
growth hormone 1
ISO ISS
ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant CTD Direct Evidence: marker/mechanism OMIM:173100
OMIM ClinVar CTD MouseDO
PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 PMID:9175738 PMID:9385381 PMID:9432120 PMID:9554464 PMID:9578959 PMID:9700205 PMID:9799079 PMID:10372722 PMID:10445339 PMID:10469016 PMID:10549303 PMID:10629163 PMID:10698162 PMID:11502827 PMID:11502836 PMID:11836331 PMID:11914025 PMID:12000366 PMID:12399418 PMID:12510984 PMID:12574219 PMID:12655557 PMID:12720086 PMID:15001589 PMID:15671105 PMID:16368751 PMID:16491012 PMID:17038549 PMID:17073157 PMID:17178704 PMID:17336732 PMID:17360215 PMID:17726075 PMID:17785368 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:20351314 PMID:21546299 PMID:23417163 PMID:23736291 PMID:25741868 PMID:26467025 PMID:27253996 PMID:28492532 PMID:28626954 PMID:29739035 PMID:33729509 PMID:34006472 PMID:34589056 PMID:34850017 PMID:36672771 More...
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Med13
mediator complex subunit 13
ISO
ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar
PMID:25741868
NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242
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Arl13a
ADP ribosylation factor like GTPase 13A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
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Armcx1
armadillo repeat containing, X-linked 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299
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Armcx2
armadillo repeat containing, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,980,662...97,985,523
Ensembl chr X:97,980,660...97,985,552
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Armcx3
armadillo repeat containing, X-linked 3
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,937,115...97,942,098
Ensembl chr X:97,936,999...97,942,098
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Armcx4
armadillo repeat containing, X-linked 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,860,526...97,870,912
Ensembl chr X:97,860,629...97,870,912
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Armcx6
armadillo repeat containing, X-linked 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10612838 PMID:10666480 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11027452 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11668622 PMID:11742281 PMID:11809909 PMID:11892085 PMID:11956200 PMID:12175777 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15358621 PMID:15661032 PMID:15821893 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16729790 PMID:16862044 PMID:16913189 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19763152 PMID:19904586 PMID:20307669 PMID:20529312 PMID:20721470 PMID:21039741 PMID:21397315 PMID:21520333 PMID:21984432 PMID:22406018 PMID:22736418 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24477949 PMID:24586880 PMID:24658450 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:26960951 PMID:27199251 PMID:27512878 PMID:27535475 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28418267 PMID:28492532 PMID:29202590 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29709555 PMID:29875397 PMID:29921932 PMID:30018078 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30697212 PMID:30882382 PMID:31795557 PMID:32067425 PMID:32117230 PMID:32441320 PMID:32455989 PMID:32477911 PMID:32499645 PMID:32552675 PMID:32581362 PMID:32888943 PMID:33013854 PMID:33042921 PMID:33154951 PMID:33224144 PMID:33225392 PMID:33377626 PMID:33584693 PMID:33815962 PMID:34029777 PMID:34182127 PMID:34262886 PMID:34975878 PMID:35382780 PMID:36029036 PMID:36790564 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
G
Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
G
Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
G
Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
G
Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
G
Nxf7
nuclear RNA export factor 7
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
G
Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
G
Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
G
Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
G
Sytl4
synaptotagmin-like 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
G
Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
G
Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 More...
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
G
Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
G
Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
G
Trmt2b
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,425,712...97,483,821
G
Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
G
Xkrx
XK related, X-linked
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
G
Rnpc3
RNA-binding region (RNP1, RRM) containing 3
ISO
ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7
OMIM ClinVar
PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182
NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747
G
Ghr
growth hormone receptor
ISO
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency
ClinVar
PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 PMID:10984309 PMID:11502828 PMID:12217488 PMID:12910492 PMID:17274879 PMID:17462934 PMID:21525302 PMID:21846964 PMID:21900382 PMID:24150201 PMID:25741868 PMID:26467025 PMID:27408750 PMID:28492532 PMID:28498917 PMID:32171629 PMID:32502767 PMID:36123965 More...
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
G
Ghsr
growth hormone secretagogue receptor
ISO
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency
OMIM ClinVar
PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 PMID:21084395 PMID:21646290 PMID:24651458 PMID:25557026 PMID:25741868 PMID:26094658 PMID:28492532 PMID:31726455 PMID:34849273 More...
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
G
Gh1
growth hormone 1
ISO
DNA:point mutation:exon:p.D122G (human) ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8530604 PMID:8552145 PMID:9152628 PMID:9276733 PMID:10372722 PMID:10445339 PMID:12655557 PMID:15001589 PMID:15713716 PMID:17519310 PMID:18160466 PMID:18950677 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34850017 PMID:36672771 PMID:9276733 More...
RGD:1601313
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Glis3
GLIS family zinc finger 3
ISO ISS
OMIM:610199 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
OMIM MouseDO CTD ClinVar
PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 PMID:24033266 PMID:25741868 PMID:26259131 PMID:27899417 PMID:28253873 PMID:28444304 PMID:28492532 PMID:29146476 PMID:29992946 PMID:31415576 PMID:32425884 PMID:32693112 PMID:35394098 More...
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
G
Kat6b
lysine acetyltransferase 6B
ISO
DNA:mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome
CTD ClinVar OMIM RGD
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28191890 PMID:28492532 PMID:28758091 PMID:30353918 PMID:30569622 PMID:32424177 PMID:22077973 More...
RGD:9588484
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
G
Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome
ClinVar
PMID:32694869
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
G
Ube3b
ubiquitin protein ligase E3B
ISO
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome
ClinVar
PMID:25741868
NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
G
Cldn9
claudin 9
ISO
ClinVar Annotator: match by term: Pendred syndrome
ClinVar
PMID:30311386 PMID:35802133 PMID:36633841
NCBI chr10:12,714,137...12,715,568
G
Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Pendred syndrome
ClinVar
PMID:30311386
NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
G
Foxi1
forkhead box I1
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:274600 ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome
CTD MouseDO ClinVar
PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome
CTD ClinVar
PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23924083 PMID:24193250 PMID:24561201 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 PMID:32062759 More...
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
G
Myo7a
myosin VIIA
ISO
ClinVar Annotator: match by term: Pendred syndrome
ClinVar
PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
G
Otof
otoferlin
ISO
ClinVar Annotator: match by term: Pendred syndrome
ClinVar
PMID:30311386
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
G
Slc26a4
solute carrier family 26 member 4
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition OMIM:274600 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9604973 PMID:9618166 PMID:9618167 PMID:9920104 PMID:10190331 PMID:10571950 PMID:10602116 PMID:10644529 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11700190 PMID:11716048 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12920581 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15611902 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16199547 PMID:16275403 PMID:16283880 PMID:16460646 PMID:16482981 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16791000 PMID:16914891 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17125574 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17576681 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18075246 PMID:18167283 PMID:18250610 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18665027 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19189692 PMID:19199245 PMID:19204907 PMID:19287372 PMID:19318451 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:19888295 PMID:20128824 PMID:20137612 PMID:20146813 PMID:20301640 PMID:20483489 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20623167 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21416585 PMID:21551164 PMID:21557232 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22509691 PMID:22717225 PMID:22796198 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23151031 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23617710 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23755160 PMID:23770805 PMID:23804846 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24156272 PMID:24222258 PMID:24224479 PMID:24245694 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24804242 PMID:24853665 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24949729 PMID:25015771 PMID:25149764 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25358692 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25488846 PMID:25491636 PMID:25525159 PMID:25528277 PMID:25587757 PMID:25724631 PMID:25741868 PMID:25761933 PMID:25788563 PMID:25830873 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26397989 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26549381 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886069 PMID:26886089 PMID:26894580 PMID:26900070 PMID:26969326 PMID:27068579 PMID:27090054 PMID:27214836 PMID:27240500 PMID:27246798 PMID:27247933 PMID:27344577 PMID:27373559 PMID:27466889 PMID:27541434 PMID:27573290 PMID:27610647 PMID:27771369 PMID:27792752 PMID:27861301 PMID:27863619 PMID:27884173 PMID:27997596 PMID:28000701 PMID:28215547 PMID:28273078 PMID:28281779 PMID:28341401 PMID:28389359 PMID:28444304 PMID:28492532 PMID:28576516 PMID:28604962 PMID:28717060 PMID:28786104 PMID:28901477 PMID:28941661 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29320412 PMID:29372807 PMID:29501320 PMID:29546359 PMID:29605365 PMID:29739340 PMID:29871349 PMID:29907799 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30139988 PMID:30154845 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30311386 PMID:30484383 PMID:30622556 PMID:30693673 PMID:30760291 PMID:30762455 PMID:30842343 PMID:30896630 PMID:31020658 PMID:31033086 PMID:31035178 PMID:31095577 PMID:31107121 PMID:31124793 PMID:31387071 PMID:31427586 PMID:31541171 PMID:31581539 PMID:31589614 PMID:31599023 PMID:31633822 PMID:31656273 PMID:31700827 PMID:31971949 PMID:32165640 PMID:32279305 PMID:32417962 PMID:32447495 PMID:32459320 PMID:32645618 PMID:32658404 PMID:32681043 PMID:32747562 PMID:32770655 PMID:33111345 PMID:33152970 PMID:33199029 PMID:33502066 PMID:33528103 PMID:33597575 PMID:33614372 PMID:33801843 PMID:34161886 PMID:34170635 PMID:34171171 PMID:34410491 PMID:34416374 PMID:34426522 PMID:34539567 PMID:34545167 PMID:34599368 PMID:34632506 PMID:34680964 PMID:34752165 PMID:34801268 PMID:35249537 PMID:35276235 PMID:35802133 PMID:35816303 PMID:35982127 PMID:36515421 PMID:36633841 PMID:36703223 PMID:36833263 PMID:14508505 PMID:11152663 PMID:15355436 More...
RGD:7421510 , RGD:7411554 , RGD:7421514
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
G
H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Rahman syndrome
OMIM ClinVar
PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 PMID:28492532 PMID:29383847 PMID:29704315 PMID:31447100 PMID:33270410 More...
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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Gpc3
glypican 3
ISO ISS
ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 CTD Direct Evidence: marker/mechanism OMIM:312870
OMIM ClinVar CTD MouseDO RGD
PMID:9950367 PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 PMID:17603795 PMID:17850639 PMID:18203194 PMID:19215053 PMID:20301398 PMID:23606591 PMID:24459012 PMID:24728327 PMID:25741868 PMID:26321508 PMID:26467025 PMID:28492532 PMID:10402475 More...
RGD:243065142
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Gpc4
glypican 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
ClinVar
PMID:25741868
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Retsat
retinol saturase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19139408
NCBI chr 4:104,653,306...104,662,069
Ensembl chr 4:104,653,155...104,668,310
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Abhd1
abhydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,422,526...25,427,514
Ensembl chr 6:25,422,526...25,427,514
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Adcy3
adenylate cyclase 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
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Adgrf3
adhesion G protein-coupled receptor F3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,133,176...26,144,601
Ensembl chr 6:26,133,192...26,144,601
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Agbl5
AGBL carboxypeptidase 5
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738
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Asxl2
ASXL transcriptional regulator 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477
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Atraid
all-trans retinoic acid-induced differentiation factor
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,315,236...25,319,821
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Babam2
BRISC and BRCA1 A complex member 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,369,021...24,788,416
Ensembl chr 6:24,369,022...24,833,951
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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Ccdc121
coiled-coil domain containing 121
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,970,845...24,973,451
Ensembl chr 6:24,970,833...24,973,478
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Cenpa
centromere protein A
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,700,142...25,711,767
Ensembl chr 6:25,700,142...25,711,675
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Cenpo
centromere protein O
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,203,642...27,218,394
Ensembl chr 6:27,188,537...27,218,314
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Cgref1
cell growth regulator with EF hand domain 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852
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Cib4
calcium and integrin binding family member 4
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,842,605...25,903,509
Ensembl chr 6:25,842,622...25,917,206
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Cimip2c
ciliary microtubule inner protein 2C
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,905,294...25,923,615
Ensembl chr 6:25,905,294...25,923,615
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Dnajc27
DnaJ heat shock protein family (Hsp40) member C27
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,068,713...27,098,449
Ensembl chr 6:27,068,686...27,098,449
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Dnajc5g
DnaJ heat shock protein family (Hsp40) member C5 gamma
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,260,087...25,264,251
Ensembl chr 6:25,260,088...25,264,152
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome | ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome
OMIM ClinVar
PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898540 PMID:24606448 PMID:24614070 PMID:24622842 PMID:24656771 PMID:24728327 PMID:25363760 PMID:25650308 PMID:25741868 PMID:26619011 PMID:26689913 PMID:26822784 PMID:26866722 PMID:26876596 PMID:26912663 PMID:27317772 PMID:27701732 PMID:27771989 PMID:27991732 PMID:28252636 PMID:28432085 PMID:28475857 PMID:28492532 PMID:28941052 PMID:29900417 PMID:30185810 PMID:30478443 PMID:30544257 PMID:30705090 PMID:31582562 PMID:31620784 PMID:31640986 PMID:31685998 PMID:31861499 PMID:31961069 PMID:32123902 PMID:32385248 PMID:32435502 PMID:32581362 PMID:32860008 PMID:33238114 PMID:34092059 PMID:34315901 PMID:34788385 PMID:35556126 PMID:36528185 PMID:37872275 More...
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dpysl5
dihydropyrimidinase-like 5
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
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Drc1
dynein regulatory complex subunit 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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Dtnb
dystrobrevin, beta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:26,566,418...26,763,467
Ensembl chr 6:26,566,925...26,766,335
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Efr3b
EFR3 homolog B
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:26,947,436...27,021,113
Ensembl chr 6:26,948,540...27,020,933
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Eif2b4
eukaryotic translation initiation factor 2B subunit delta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829
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Emilin1
elastin microfibril interfacer 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698
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Fndc4
fibronectin type III domain containing 4
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Garem2
GRB2 associated regulator of MAPK1 subtype 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
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Gckr
glucokinase regulator
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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Gpn1
GPN-loop GTPase 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,947,350...24,965,025
Ensembl chr 6:24,947,325...24,965,031
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Gtf3c2
general transcription factor IIIC subunit 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,196,439...25,221,338
Ensembl chr 6:25,197,268...25,220,490
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Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
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Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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Ift172
intraflagellar transport 172
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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Itsn2
intersectin 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Khk
ketohexokinase
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717
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Kif3c
kinesin family member 3C
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
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Krtcap3
keratinocyte associated protein 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
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Mapre3
microtubule-associated protein, RP/EB family, member 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881
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Mpv17
mitochondrial inner membrane protein MPV17
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Mrpl33
mitochondrial ribosomal protein L33
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,825,800...24,833,994
Ensembl chr 6:24,825,827...24,833,834
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Ncoa1
nuclear receptor coactivator 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664
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Nrbp1
nuclear receptor binding protein 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,122,635...25,133,209
Ensembl chr 6:25,122,635...25,133,182
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Ost4
oligosaccharyltransferase complex subunit 4, non-catalytic
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,471,254...25,472,478
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Otof
otoferlin
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
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Plb1
phospholipase B1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,087,051...24,227,167
Ensembl chr 6:24,089,214...24,210,117
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Pomc
proopiomelanocortin
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Ppm1g
protein phosphatase, Mg2+/Mn2+ dependent, 1G
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,153,556...25,173,763
Ensembl chr 6:25,153,556...25,173,761
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Ppp1cb
protein phosphatase 1 catalytic subunit beta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824
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Preb
prolactin regulatory element binding
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,418,805...25,422,594
Ensembl chr 6:25,418,776...25,422,590
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Prr30
proline rich 30
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,415,069...25,417,582
Ensembl chr 6:25,414,868...25,417,585
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Ptrhd1
peptidyl-tRNA hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805
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Rab10
RAB10, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,267,081...26,319,739
Ensembl chr 6:26,266,859...26,320,193
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Rbks
ribokinase
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290
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Selenoi
selenoprotein I
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314
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Slc30a3
solute carrier family 30 member 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720
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Slc35f6
solute carrier family 35, member F6
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,725,822...25,737,720
Ensembl chr 6:25,725,819...25,737,730
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Slc4a1ap
solute carrier family 4 member 1 adaptor protein
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,905,941...24,933,651
Ensembl chr 6:24,905,941...24,933,815
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Slc5a6
solute carrier family 5 member 6
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712
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Snx17
sorting nexin 17
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030
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Spata31h1
SPATA31 subfamily H member 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,023,718...25,040,928
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Supt7l
SPT7 like, STAGA complex subunit gamma
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,933,941...24,944,656
Ensembl chr 6:24,933,923...24,944,654
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Tcf23
transcription factor 23
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,397,889...25,406,639
Ensembl chr 6:25,397,937...25,405,880
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Tmem214
transmembrane protein 214
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444
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Trim54
tripartite motif-containing 54
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511
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Ucn
urocortin
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
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Zfp512
zinc finger protein 512
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,976,903...25,007,913
Ensembl chr 6:24,976,906...25,007,819
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Zfp513
zinc finger protein 513
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439
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Rnf125
ring finger protein 125
ISO
ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome
OMIM ClinVar
PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401
NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983
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Fibp
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
OMIM ClinVar
PMID:25741868 PMID:26660953 PMID:27183861
NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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Slc5a5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 PMID:9657379 PMID:9709973 PMID:9745458 PMID:9814502 PMID:10487695 PMID:10902780 PMID:10907989 PMID:18339708 PMID:21054210 PMID:21565787 PMID:25525159 PMID:25741868 PMID:28492532 PMID:30240412 PMID:32805706 PMID:33692749 More...
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Tpo
thyroid peroxidase
ISO
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 PMID:9814507 PMID:10084596 PMID:10468986 PMID:11061528 PMID:11238503 PMID:11874711 PMID:11916616 PMID:12213873 PMID:12843174 PMID:12938097 PMID:14751036 PMID:15055360 PMID:15279913 PMID:15745925 PMID:16684826 PMID:17381485 PMID:17468186 PMID:17547680 PMID:18029453 PMID:19243353 PMID:21490078 PMID:21900383 PMID:22919382 PMID:23236987 PMID:23329183 PMID:23512414 PMID:24482635 PMID:24790296 PMID:25241611 PMID:25564141 PMID:25741868 PMID:26565538 PMID:27060741 PMID:27135621 PMID:27173810 PMID:27373559 PMID:27525530 PMID:27617131 PMID:28444304 PMID:28492532 PMID:29546359 PMID:29790453 PMID:30022773 PMID:30240412 PMID:30662777 PMID:31287502 PMID:31430255 PMID:32078117 PMID:32088313 PMID:32319661 PMID:32424871 PMID:32425884 PMID:32459320 PMID:32765423 PMID:33029631 PMID:33179747 PMID:33368191 PMID:34200080 PMID:34220711 PMID:34248839 PMID:34276565 PMID:34426522 PMID:34539567 PMID:34780050 PMID:35002963 PMID:35507000 PMID:36474027 More...
NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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Sla
src-like adaptor
ISO
ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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Tg
thyroglobulin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
OMIM CTD ClinVar
PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 PMID:9588493 PMID:10199792 PMID:10403171 PMID:10404833 PMID:11484898 PMID:12915634 PMID:14657345 PMID:14764776 PMID:15579800 PMID:15611820 PMID:15769978 PMID:16187910 PMID:16187918 PMID:16199547 PMID:16403815 PMID:16477365 PMID:16720658 PMID:17033963 PMID:17244789 PMID:19339519 PMID:19438905 PMID:19837936 PMID:20089614 PMID:20410234 PMID:20447071 PMID:20981092 PMID:21128992 PMID:21372558 PMID:21900383 PMID:21958696 PMID:22784463 PMID:23035660 PMID:23164529 PMID:23455760 PMID:23457309 PMID:23457313 PMID:23535966 PMID:23933148 PMID:24033266 PMID:25741868 PMID:26385851 PMID:26595189 PMID:26742565 PMID:26777470 PMID:26813946 PMID:27305979 PMID:27373559 PMID:27498126 PMID:27525530 PMID:28444304 PMID:28492532 PMID:28620499 PMID:29275168 PMID:29590070 PMID:29720101 PMID:30022773 PMID:30240412 PMID:30350900 PMID:31042289 PMID:31287502 PMID:31867598 PMID:31980526 PMID:33692749 PMID:34248839 PMID:34456971 PMID:34484748 PMID:34780050 PMID:36012511 PMID:36474027 PMID:36913313 More...
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Iyd
iodotyrosine deiodinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
OMIM CTD ClinVar
PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 PMID:28492532 PMID:36633921 More...
NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319
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Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 PMID:30110704 PMID:31044655 PMID:31980526 PMID:32252219 PMID:32425884 PMID:32860008 PMID:33651715 PMID:33692749 More...
NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
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Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 PMID:16608528 PMID:17121535 PMID:17374849 PMID:17576681 PMID:18765513 PMID:19789206 PMID:20187165 PMID:20972728 PMID:21565790 PMID:21704604 PMID:21900383 PMID:22336364 PMID:23457309 PMID:24033266 PMID:24127536 PMID:24423310 PMID:24735383 PMID:25248169 PMID:25616291 PMID:25741868 PMID:25928756 PMID:26301257 PMID:26334177 PMID:26349762 PMID:26506010 PMID:26565538 PMID:26709262 PMID:26742565 PMID:26990548 PMID:27108200 PMID:27166716 PMID:27349010 PMID:27498126 PMID:27525530 PMID:27557340 PMID:27821020 PMID:28414800 PMID:28444304 PMID:28492532 PMID:28541007 PMID:28648510 PMID:28666341 PMID:28683258 PMID:29092890 PMID:29435108 PMID:29546359 PMID:29650690 PMID:30022773 PMID:30084132 PMID:30154845 PMID:30240412 PMID:30487145 PMID:30512158 PMID:30894704 PMID:31030636 PMID:31044655 PMID:31287502 PMID:32319661 PMID:32425884 PMID:32459320 PMID:32469330 PMID:32765423 PMID:32803677 PMID:33310921 PMID:33490161 PMID:33631011 PMID:33651715 PMID:34200080 PMID:34248839 PMID:34276565 PMID:34456971 PMID:34539567 PMID:34564849 PMID:34780050 PMID:36071330 PMID:36703223 PMID:37390946 More...
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Cntnap2
contactin associated protein 2
ISO
ClinVar Annotator: match by term: Weaver syndrome
ClinVar
PMID:28492532
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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Cul1
cullin 1
ISO
ClinVar Annotator: match by term: Weaver syndrome
ClinVar
PMID:28492532
NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO ISS
ClinVar Annotator: match by term: Weaver syndrome OMIM:277590 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 PMID:22190405 PMID:23239504 PMID:24214728 PMID:24728327 PMID:25741868 PMID:25954003 PMID:26380986 PMID:26694085 PMID:27618451 PMID:28490743 PMID:28492532 PMID:29620724 PMID:29802153 PMID:30613354 PMID:31785789 PMID:32243864 More...
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Weaver syndrome
CTD ClinVar
PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Weaver syndrome
ClinVar
PMID:25741868 PMID:30019515
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Sox3
SRY-box transcription factor 3
ISO
DNA:duplication:cds:c.712_744dup (human)
RGD
PMID:12428212
RGD:11535974
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all