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: Dwarfism
Accession: DOID:9007661
browse the term
Definition: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Synonyms: exact_synonym: Nanism; short stature
narrow_synonym: DISPROPORTIONATE SHORT STATURE; SD2; Skeletal dysplasia 2
primary_id: MESH:D004392
alt_id: OMIA:001772
xref: HP:0004322
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Abcg4
ATP binding cassette subfamily G member 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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Acan
aggrecan
ISO IEP
ClinVar Annotator: match by term: Short stature protein:decreased expression:cartilage protein:altered localization:cartilage mRNA:decreased expression:costal cartilage DNA:frameshift mutation, missense mutation, splice-site mutation:exon:c.272delA, c.2026+1G>A, c.7064T>C (p.L2355P) (human) DNA:frameshift mutation:exon:c.5391delG (human)
ClinVar RGD
PMID:9192671 PMID:9988279 PMID:25736479 PMID:18678883 PMID:24762113 PMID:25741789 More...
RGD:1300269 , RGD:734826 , RGD:11570533 , RGD:11570531 , RGD:11570526 , RGD:11061419
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Acrv1
acrosomal vesicle protein 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
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Actb
actin, beta
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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Adamts15
ADAM metallopeptidase with thrombospondin type 1 motif, 15
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
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Adamts8
ADAM metallopeptidase with thrombospondin type 1 motif, 8
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
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Adgrb3
adhesion G protein-coupled receptor B3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 9:27,421,168...28,148,979
Ensembl chr 9:27,421,168...28,148,855
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Aff2
ALF transcription elongation factor 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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Alg12
ALG12, alpha-1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Disproportionate short stature
ClinVar
PMID:25741868
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Ammecr1
AMMECR nuclear protein 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:106,465,982...106,571,382
Ensembl chr X:106,466,699...106,571,487
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Angpt2
angiopoietin 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Aplp2
amyloid beta precursor like protein 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa4
apolipoprotein A4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoa5
apolipoprotein A5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Apoc3
apolipoprotein C3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Arcn1
archain 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Arhgap32
Rho GTPase activating protein 32
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
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Arhgef12
Rho guanine nucleotide exchange factor 12
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
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Atp5mg
ATP synthase membrane subunit G
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bace1
beta-secretase 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Barx2
BARX homeobox 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
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Bcl9l
BCL9 like
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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Brd4
bromodomain containing 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Bsx
brain specific homeobox
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,254,105...41,257,861
Ensembl chr 8:41,254,105...41,257,861
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Bud13
BUD13 homolog
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958
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C1qtnf5
C1q and TNF related 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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C2cd2l
C2CD2-like
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
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Cadm1
cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
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Cant1
calcium activated nucleotidase 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
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Ccdc15
coiled-coil domain containing 15
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
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Ccn2
cellular communication network factor 2
ISO
RGD
PMID:11237711
RGD:734846
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
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Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Cdon
cell adhesion associated, oncogene regulated
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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Cenatac
centrosomal AT-AC splicing factor
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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Cep164
centrosomal protein 164
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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Cep76
centrosomal protein 76
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504
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Chd1l
chromodomain helicase DNA binding protein 1-like
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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Chek1
checkpoint kinase 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
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Clasp1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:12409455 PMID:21474760 PMID:21990275 PMID:22581640 PMID:23794361 PMID:25741868 PMID:26419500 PMID:26522830 PMID:27040866 PMID:28492532 PMID:28669401 PMID:29263834 PMID:29391254 PMID:30214071 PMID:30368667 PMID:32581362 PMID:32595695 PMID:32628740 More...
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Clgn
calmegin
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr19:24,695,140...24,728,542
Ensembl chr19:24,696,875...24,728,758
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Clic4
chloride intracellular channel 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:147,453,702...147,513,455
Ensembl chr 5:147,453,712...147,513,452
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Clip1
CAP-GLY domain containing linker protein 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884
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Clmp
CXADR-like membrane protein
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838
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Col11a2
collagen type XI alpha 2 chain
ISO
Skeletal dysplasia 2, COL11A2-related
OMIA
PMID:23527306
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col2a1
collagen type II alpha 1 chain
ISO
DNA:deletion:cds:p.KT206,207N(mouse) ClinVar Annotator: match by term: Short stature
ClinVar RGD
PMID:25741868 PMID:18678883
RGD:11570531
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:8037207 PMID:9881948 PMID:12787275 PMID:16971478 PMID:22266148 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:28830826 PMID:32860008 PMID:35979658 More...
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Cpz
carboxypeptidase Z
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr14:75,223,692...75,246,946
Ensembl chr14:75,223,605...75,246,945
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Crtam
cytotoxic and regulatory T cell molecule
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,340,117...41,377,381
Ensembl chr 8:41,340,837...41,377,343
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Cul4b
cullin 4B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868
NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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Cul7
cullin 7
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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Cxcr5
C-X-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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Dcps
decapping enzyme, scavenger
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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Ddx25
DEAD-box helicase 25
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Dennd4b
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
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Dhx34
DExH-box helicase 34
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:31256877
NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113
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Dnah17
dynein, axonemal, heavy chain 17
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr10:103,244,144...103,364,953
Ensembl chr10:103,249,363...103,364,901
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30478443
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Donson
DNA replication fork stabilization factor DONSON
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Short stature
CTD ClinVar
PMID:25741868 PMID:28191891 PMID:28331220 PMID:28492532 PMID:31407851
NCBI chr11:30,919,834...30,933,150
Ensembl chr11:30,923,239...30,932,889
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Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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Drc12
dynein regulatory complex subunit 12 homolog
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
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Dscaml1
DS cell adhesion molecule-like 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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Dvl3
dishevelled segment polarity protein 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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Edem3
ER degradation enhancing alpha-mannosidase like protein 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523
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Ei24
EI24, autophagy associated transmembrane protein
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Esam
endothelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
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Ets1
ETS proto-oncogene 1, transcription factor
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
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Fam111a
FAM111 trypsin like peptidase A
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
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Fam118b
family with sequence similarity 118, member B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Fbrs
fibrosin
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 1:182,090,741...182,104,026
Ensembl chr 1:182,089,844...182,103,828
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Fez1
fasciculation and elongation protein zeta 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
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Fgf18
fibroblast growth factor 18
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar RGD
PMID:1908846 PMID:7670477 PMID:7773297 PMID:8589686 PMID:8858131 PMID:9452043 PMID:9672519 PMID:9677066 PMID:10073901 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10696568 PMID:10777366 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11754059 PMID:12707965 PMID:12833394 PMID:15772091 PMID:16841094 PMID:16912704 PMID:18198189 PMID:18642369 PMID:19088846 PMID:20301540 PMID:22045636 PMID:22903874 PMID:23149434 PMID:23165795 PMID:24411048 PMID:24715719 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26380986 PMID:26619011 PMID:28492532 PMID:29595812 PMID:25456072 More...
RGD:11568033
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Fkbp10
FKBP prolyl isomerase 10
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 More...
NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330
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Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 PMID:16538226 PMID:20979190 PMID:22465605 PMID:25741868 PMID:28492532 PMID:31942422 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
G
Flnb
filamin B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Foxr1
forkhead box R1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
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Foxred1
FAD-dependent oxidoreductase domain containing 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
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Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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Fzd2
frizzled class receptor 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:28492532
NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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G6pc1
glucose-6-phosphatase catalytic subunit 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:2172641 PMID:7573034 PMID:7623438 PMID:7744838 PMID:7814621 PMID:8182131 PMID:8211187 PMID:8734807 PMID:9332655 PMID:10612834 PMID:10834516 PMID:10874313 PMID:11310582 PMID:11739393 PMID:12093795 PMID:12373566 PMID:12713862 PMID:15316959 PMID:18008183 PMID:18449899 PMID:20301489 PMID:21599942 PMID:23312056 PMID:24033266 PMID:24082139 PMID:24385852 PMID:25308557 PMID:25333069 PMID:25741868 PMID:28397058 PMID:28492532 PMID:29750741 PMID:32313153 PMID:33224545 PMID:33763395 PMID:34093448 More...
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
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Gabre
gamma-aminobutyric acid type A receptor subunit epsilon
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:150,060,035...150,078,773
Ensembl chr X:150,060,040...150,078,693
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Gh1
growth hormone 1
ISO IAGP IEP
DNA:mutations:promoter:c.-223C>T( rs41295015), c.-185T>C(rs71651677)(human) mRNA,protein:decreased expression:pituitary gland, blood:
RGD
PMID:27252485 PMID:2752987 PMID:2152867 PMID:8670892 PMID:8670892
RGD:12904666 , RGD:1578505 , RGD:1578506 , RGD:12905039 , RGD:12905039
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gh1sdr
IAGP
RGD
PMID:2152867 PMID:2752987
RGD:1578506 , RGD:1578505
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Ghr
growth hormone receptor
treatment
ISO
protein:increased expression:CD20 positive lymphocyte: ClinVar Annotator: match by term: Short stature DNA:missense mutation:exon:p.V144I(human) DNA:deletion:exon:
ClinVar RGD
PMID:10984309 PMID:25741868 PMID:28492532 PMID:9373455 PMID:9814495 PMID:22026923 More...
RGD:11565837 , RGD:11566044 , RGD:11566042
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Ghrl
ghrelin and obestatin prepropeptide
ISO
protein:increased expression:serum:
RGD
PMID:20861603
RGD:12904881
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Ghsr
growth hormone secretagogue receptor
ISO
DNA:mutations: :
RGD
PMID:21084395 PMID:7968381
RGD:12904884 , RGD:12910126
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
G
Gramd1b
GRAM domain containing 1B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,654,492...40,893,869
Ensembl chr 8:40,659,182...40,893,925
G
Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Grik4
glutamate ionotropic receptor kainate type subunit 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
G
H2ap
H2A.P histone
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:12,907,962...12,908,516
G
H2ax
H2A.X variant histone
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
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Hapln1
hyaluronan and proteoglycan link protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9988279 PMID:9988279
RGD:734826
NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
G
Hepacam
hepatic and glial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
G
Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Disproportionate short stature
ClinVar
PMID:25741868
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
G
Hinfp
histone H4 transcription factor
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
G
Hkdc1
hexokinase domain containing 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867
G
Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Hook3
hook microtubule-tethering protein 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
G
Hspa8
heat shock protein family A (Hsp70) member 8
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
G
Hyls1
HYLS1, centriolar and ciliogenesis associated
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760
G
Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Ift46
intraflagellar transport 46
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
G
Ift81
intraflagellar transport 81
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:28492532
NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
G
Igf1
insulin-like growth factor 1
ISO IEP
DNA:nonsense mutation,haploinsufficiency :cds: protein:decreased expression:plasma (rat)
RGD
PMID:20668042 PMID:20102388
RGD:8548823 , RGD:12904931
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
associated with Anemia, Sickle Cell;
RGD
PMID:17396438
RGD:12743603
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Il10ra
interleukin 10 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
G
Itih6
inter-alpha-trypsin inhibitor heavy chain family member 6
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:19,753,322...19,790,381
Ensembl chr X:19,753,625...19,789,500
G
Jaml
junction adhesion molecule like
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
G
Jhy
junctional cadherin complex regulator
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,276,501...41,333,383
Ensembl chr 8:41,276,491...41,333,514
G
Kcnd1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
G
Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
G
Kcnj5
potassium inwardly-rectifying channel, subfamily J, member 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
G
Kirrel3
kirre like nephrin family adhesion molecule 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
G
Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
G
Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:28492532
NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
G
Lemd2
LEM domain nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:30905398
NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
G
Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 PMID:26332594 PMID:27498076 PMID:27529282 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29253866 PMID:29557732 PMID:29791652 PMID:30420677 PMID:30847666 PMID:31383942 PMID:31857427 PMID:32041611 PMID:32616434 PMID:32685188 PMID:33713793 PMID:33803191 PMID:35449878 More...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
G
LOC103689958
olfactory receptor 49-like
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079
G
Lonp1
lon peptidase 1, mitochondrial
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:28492532
NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
G
Lrp6
LDL receptor related protein 6
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31182298 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
G
Mapk1
mitogen activated protein kinase 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:32721402
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Mcam
melanoma cell adhesion molecule
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
G
Mcph1
microcephalin 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
G
Med24
mediator complex subunit 24
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr10:83,664,609...83,702,315
Ensembl chr10:83,664,609...83,690,123
G
Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 PMID:17296794 PMID:19889647 PMID:20418531 PMID:21285398 PMID:21508331 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31130284 PMID:31188717 PMID:31832804 PMID:32376792 PMID:33475540 PMID:33841295 PMID:34366782 PMID:35938991 More...
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
G
Mfrp
membrane frizzled-related protein
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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Mgp
matrix Gla protein
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:28492532 PMID:37923733
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
G
Mir100
microRNA 100
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
G
Mir125b1
microRNA 125b-1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
G
Mpzl2
myelin protein zero-like 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
G
Mpzl3
myelin protein zero-like 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
G
Msantd2
Myb/SANT DNA binding domain containing 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
G
Mta3
metastasis associated 1 family, member 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 6:10,867,028...10,987,221
Ensembl chr 6:10,867,011...10,986,883
G
Mtfmt
mitochondrial methionyl-tRNA formyltransferase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30087118 PMID:30911575 More...
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
G
Myh7b
myosin heavy chain 7B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
G
Myh8
myosin heavy chain 8
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
G
N4bp2l2
NEDD4 binding protein 2-like 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr12:137,342...200,292
Ensembl chr12:103,590...197,784
G
Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
G
Nfrkb
nuclear factor related to kappa B binding protein
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
G
Nherf4
NHERF family PDZ scaffold protein 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
G
Nlrx1
NLR family member X1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
G
Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:35741827
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
G
Nrgn
neurogranin
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
G
Nrxn3
neurexin 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 6:107,641,760...109,272,849
Ensembl chr 6:107,641,780...109,272,044
G
Nuf2
NUF2 component of NDC80 kinetochore complex
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:33721060
NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766
G
Nxpe2
neurexophilin and PC-esterase domain family, member 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:48,661,708...48,695,555
Ensembl chr 8:48,661,708...48,698,035
G
Nxpe4
neurexophilin and PC-esterase domain family member 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:48,502,697...48,744,101
Ensembl chr 8:48,722,440...48,744,100
G
Oaf
out at first homolog
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
G
Obscn
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
G
Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:19481195 PMID:25741868
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
G
Olr1271
olfactory receptor 1271
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900
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Or10g9
olfactory receptor family 10 subfamily G member 9
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371
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Or10g9b
olfactory receptor family 10 subfamily G member 9B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692
G
Or10s1
olfactory receptor family 10 subfamily S member 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068
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Or4d5
olfactory receptor family 4 subfamily D member 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809
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Or6x1
olfactory receptor family 6 subfamily X member 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586
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Or8a1b
olfactory receptor family 8 subfamily A member 1B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
G
Or8b12
olfactory receptor family 8 subfamily B member 12
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
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Or8b3
olfactory receptor family 8 subfamily B member 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
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Or8b4
olfactory receptor family 8 subfamily B member 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,720,158...37,721,087
G
Or8b8
olfactory receptor family 8 subfamily B member 8
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
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Or8d4
olfactory receptor family 8 subfamily D member 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932
G
Or8g17d
olfactory receptor family 8 subfamily G member 17D
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:39,180,564...39,181,499
Ensembl chr 8:39,180,079...39,184,720
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Or8g30
olfactory receptor family 8 subfamily G member 30
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924
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Orc1
origin recognition complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358633
NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
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Osbp
oxysterol binding protein
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506
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Pafah1b2
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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Panx3
pannexin 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
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Pate1
prostate and testis expressed 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:34,048,410...34,050,867
Ensembl chr 8:34,048,617...34,050,848
G
Pate2
prostate and testis expressed 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
G
Pate3
prostate and testis expressed 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
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Pate4
prostate and testis expressed 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:12145326
RGD:737721
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pcsk7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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Pdzrn3
PDZ domain containing RING finger 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 4:133,770,736...133,996,959
Ensembl chr 4:133,770,736...133,996,959
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Phf20
PHD finger protein 20
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 3:144,710,253...144,816,696
Ensembl chr 3:144,710,353...144,814,439
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Phldb1
pleckstrin homology-like domain, family B, member 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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Pik3c2a
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:31034465
NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472
G
Pknox2
PBX/knotted 1 homeobox 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
G
Plk4
polo-like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25344692
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
G
Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
G
Pogz
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
G
Polr2e
RNA polymerase II, I and III subunit E
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
G
Polr3gl
RNA polymerase III subunit GL
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:31089205
NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
G
Pou2f3
POU class 2 homeobox 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
G
Prdm10
PR/SET domain 10
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
G
Prkg2
protein kinase cGMP-dependent 2
IAGP
DNA:deletion:cds (rat)
RGD
PMID:15466490 PMID:19149413
RGD:150429792 , RGD:150429793
NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
G
Prmt7
protein arginine methyltransferase 7
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392
NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
G
Psmg2
proteasome assembly chaperone 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15985475 PMID:15987685 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17546245 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:19008228 PMID:19047918 PMID:19077116 PMID:19179468 PMID:19251646 PMID:19795160 PMID:19835954 PMID:20186801 PMID:20651068 PMID:21365683 PMID:21590266 PMID:22371576 PMID:22420426 PMID:22465605 PMID:22781091 PMID:23321623 PMID:23624134 PMID:24033266 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27069254 PMID:27276561 PMID:28492532 PMID:29493581 PMID:30325180 PMID:33726816 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Ptpru
protein tyrosine phosphatase, receptor type, U
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768
G
Pus3
pseudouridine synthase 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
G
Pygb
glycogen phosphorylase B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553
G
Rasa3
RAS p21 protein activator 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804
G
Recql
RecQ like helicase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:35025765
NCBI chr 4:175,308,337...175,332,965
Ensembl chr 4:175,304,117...175,332,945
G
Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17895320 PMID:17963006 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28873162 PMID:29656518 PMID:30660595 PMID:31510104 PMID:34629742 PMID:34881033 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
G
Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 PMID:28554332 PMID:29734338 More...
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
G
Rnf214
ring finger protein 214
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
G
Rnf26
ring finger protein 26
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:28492532
NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
G
Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25410734
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
G
Robo3
roundabout guidance receptor 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
G
Robo4
roundabout guidance receptor 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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Ror2
receptor tyrosine kinase-like orphan receptor 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123 PMID:33937263
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
G
Ros1
ROS proto-oncogene 1 , receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
G
Rps25
ribosomal protein s25
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
G
Rpusd4
RNA pseudouridine synthase D4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
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Runx1t1
RUNX1 partner transcriptional co-repressor 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
G
Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:19191333 PMID:25741868 PMID:28492532 PMID:32403337 PMID:33333461 PMID:34106991 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
G
Sbds
Sbds, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:32150944 PMID:32581362 More...
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
G
Sc5d
sterol-C5-desaturase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
G
Scn2b
sodium voltage-gated channel beta subunit 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
G
Scn3b
sodium voltage-gated channel beta subunit 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
G
Scn4b
sodium voltage-gated channel beta subunit 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
G
Scube3
signal peptide, CUB domain and EGF like domain containing 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:33308444
NCBI chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584
G
Siae
sialic acid acetylesterase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
G
Sidt2
SID1 transmembrane family, member 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
G
Sik3
SIK family kinase 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
G
Sin3a
SIN3 transcription regulator family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27399968
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
G
Slc37a2
solute carrier family 37 member 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
G
Slc37a4
solute carrier family 37 member 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
G
Slc38a3
solute carrier family 38, member 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
G
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
G
Smarca5
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr19:27,271,918...27,304,594
Ensembl chr19:27,271,148...27,304,594
G
Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
G
Snx19
sorting nexin 19
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
G
Sorl1
sortilin related receptor 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
G
Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Spa17
sperm autoantigenic protein 17
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639
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Srpra
SRP receptor subunit alpha
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
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Srpx
sushi-repeat-containing protein, X-linked
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
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St14
ST14 transmembrane serine protease matriptase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389
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Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 PMID:25042743 PMID:25741868 PMID:26604104 PMID:26743090 PMID:27379765 PMID:27577878 PMID:28492532 PMID:28597685 More...
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stt3a
STT3 oligosaccharyltransferase complex catalytic subunit A
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
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Sytl5
synaptotagmin-like 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
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Tagln
transgelin
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tapt1
transmembrane anterior posterior transformation 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868
NCBI chr14:66,873,467...66,919,737
Ensembl chr14:66,873,459...66,919,741
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Tbce
tubulin folding cofactor E
ISO
Kenny-Caffey syndrome, OMIM:244460
RGD
PMID:12389028
RGD:1599303
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Tbcel
tubulin folding cofactor E-like
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
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Tbrg1
transforming growth factor beta regulator 1
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
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Tecta
tectorin alpha
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Tg
thyroglobulin
treatment
ISO IAGP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24582622 PMID:16365524 PMID:10760744
RGD:150429798 , RGD:13605608
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
treatment
IAGP
RGD
PMID:10760744 PMID:16365524
RGD:13605608 , RGD:150429798
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Thy1
Thy-1 cell surface antigen
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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Tirap
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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Tlcd5
TLC domain containing 5
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
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Tmem218
transmembrane protein 218
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Tmem225
transmembrane protein 225
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041
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Tmem25
transmembrane protein 25
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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Tmem45b
transmembrane protein 45b
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
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Tmprss13
transmembrane serine protease 13
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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Tmprss4
transmembrane serine protease 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16489069 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tpo
thyroid peroxidase
ISO
ClinVar Annotator: match by term: Short stature
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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Traip
TRAF-interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26595769
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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Trappc11
trafficking protein particle complex subunit 11
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:28492532
NCBI chr16:44,733,169...44,779,324
Ensembl chr16:44,733,169...44,779,322
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Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Treh
trehalase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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Trim29
tripartite motif-containing 29
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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Trim37
tripartite motif-containing 37
ISO
Mulibrey Nanism, OMIM:253250
RGD
PMID:10888877
RGD:1599667
NCBI chr10:71,943,384...72,075,563
Ensembl chr10:71,943,375...72,075,558
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Tshr
thyroid stimulating hormone receptor
IMP
RGD
PMID:29507327
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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Tstd3
thiosulfate sulfurtransferase like domain containing 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:35,294,652...35,304,093
Ensembl chr 5:35,294,645...35,304,101
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Ttc36
tetratricopeptide repeat domain 36
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,112,737...45,116,345
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Ttn
titin
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Ubash3b
ubiquitin associated and SH3 domain containing, B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:41,385,419...41,532,248
Ensembl chr 8:41,388,341...41,532,201
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Ube4a
ubiquitination factor E4A
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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Ubr4
ubiquitin protein ligase E3 component n-recognin 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784
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Upk2
uroplakin 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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Ush2a
usherin
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22135276 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26629787 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 PMID:34906470 PMID:36011334 PMID:36909829 More...
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Usp2
ubiquitin specific peptidase 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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Usp24
ubiquitin specific peptidase 24
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:121,080,687...121,210,321
Ensembl chr 5:121,080,470...121,210,311
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Usp45
ubiquitin specific peptidase 45
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 5:35,318,621...35,392,090
Ensembl chr 5:35,318,635...35,389,420
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Usp51
ubiquitin specific peptidase 51
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:18,374,940...18,381,472
Ensembl chr X:18,376,930...18,379,888
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Vdr
vitamin D receptor
treatment
ISO
DNA:polymorphism:promoter:rs11568820(human) DNA:SNP:promoter: rs11568820(human)
RGD
PMID:24015038 PMID:26400282
RGD:13217415 , RGD:11353416
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vps11
VPS11 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
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Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:15141358 PMID:15154116 PMID:16648375 PMID:17990063 PMID:20461111 PMID:25525159 PMID:25741868 PMID:28492532 PMID:34353225 More...
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Vsig2
V-set and immunoglobulin domain containing 2
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
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Vwa5a
von Willebrand factor A domain containing 5A
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112
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Vwce
von Willebrand factor C and EGF domains
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 1:207,280,714...207,327,215
Ensembl chr 1:207,282,356...207,312,986
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Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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Wdr62
WD repeat domain 62
ISO
RGD
PMID:24875059
RGD:11541053
NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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Wnt4
Wnt family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17505543
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Wwox
WW domain-containing oxidoreductase
IAGP
DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 compared to wild type and heterozygotes
RGD
PMID:19500159 PMID:17803050 PMID:18676360
RGD:150429979 , RGD:150429978 , RGD:150429974
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Wwoxlde
WW domain-containing oxidoreductase; lde mutant
IAGP
compared to wild type and heterozygotes
RGD
PMID:19500159 PMID:18676360 PMID:17803050
RGD:150429979 , RGD:150429974 , RGD:150429978
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Zbed4
zinc finger, BED-type containing 4
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
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Zbtb44
zinc finger and BTB domain containing 44
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
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Zfc3h1
zinc finger, C3H1-type containing
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 7:51,008,251...51,064,666
Ensembl chr 7:51,007,984...51,064,661
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Zfhx3
zinc finger homeobox 3
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
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Zfp202
zinc finger protein 202
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118
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Zfp446
zinc finger protein 446
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr 1:73,594,953...73,612,685
Ensembl chr 1:73,601,759...73,612,685
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Zfp449
zinc finger protein 449
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
NCBI chr X:134,120,820...134,140,921
Ensembl chr X:134,122,636...134,140,924
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Zpr1
ZPR1 zinc finger
ISO
ClinVar Annotator: match by term: Short stature
ClinVar
PMID:32581362
NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
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Cul7
cullin 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome
CTD ClinVar
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21396581 PMID:21548126 PMID:23018678 PMID:23900270 PMID:24793695 PMID:24793696 PMID:25741868 PMID:28492532 PMID:28969986 PMID:31343991 PMID:31589614 PMID:34006472 More...
NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: 3-M syndrome
ClinVar
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aarskog syndrome
CTD ClinVar
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 PMID:14560308 PMID:15327482 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:17847065 PMID:20082460 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:27959697 PMID:28492532 PMID:29276006 More...
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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Tsr2
TSR2, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Aarskog syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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Asb2
ankyrin repeat and SOCS box-containing 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854
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Atxn3
ataxin 3
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
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Btbd7
BTB domain containing 7
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405
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Calm1
calmodulin 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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Catsperb
cation channel sperm associated auxiliary subunit beta
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,418,606...120,713,160
Ensembl chr 6:120,418,609...120,707,182
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Ccdc88c
coiled-coil domain containing 88C
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555
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Chga
chromogranin A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398
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Cox8c
cytochrome c oxidase subunit 8C
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
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Cpsf2
cleavage and polyadenylation specific factor 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,123,941...121,152,756
Ensembl chr 6:121,120,569...121,151,921
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Ddx24
DEAD-box helicase 24
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
G
Dglucy
D-glutamate cyclase
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,055,480...120,130,910
Ensembl chr 6:120,055,460...120,130,910
G
Fam181a
family with sequence similarity 181, member A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
G
Fbln5
fibulin 5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
G
Golga5
golgin A5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,612,389...121,640,552
Ensembl chr 6:121,612,529...121,640,413
G
Gon7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
G
Gpr68
G protein-coupled receptor 68
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
G
Ifi27
interferon, alpha-inducible protein 27
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294
G
Ifi27l2b
interferon, alpha-inducible protein 27 like 2B
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360
G
Itpk1
inositol-tetrakisphosphate 1-kinase
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,710,750...121,844,501
Ensembl chr 6:121,710,755...121,844,107
G
Kcnk13
potassium two pore domain channel subfamily K member 13
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,240,825...119,345,292
Ensembl chr 6:119,242,188...119,345,240
G
Lgmn
legumain
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480
G
Lyset
lysosomal enzyme trafficking factor
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,884,577...121,886,319
Ensembl chr 6:121,884,643...121,886,275
G
Moap1
modulator of apoptosis 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,882,565...121,884,500
Ensembl chr 6:121,882,366...121,898,643
G
Ndufb1
NADH:ubiquinone oxidoreductase subunit B1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,115,649...121,124,055
G
Nrde2
NRDE-2, necessary for RNA interference, domain containing
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,405,103...119,446,861
Ensembl chr 6:119,404,334...119,448,915
G
Otub2
OTU deubiquitinase, ubiquitin aldehyde binding 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
G
Ppp4r3a
protein phosphatase 4, regulatory subunit 3A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,302,508...120,365,907
Ensembl chr 6:120,302,511...120,365,891
G
Ppp4r4
protein phosphatase 4, regulatory subunit 4
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384
G
Prima1
proline rich membrane anchor 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
G
Psmc1
proteasome 26S subunit, ATPase 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,392,833...119,405,233
Ensembl chr 6:119,392,855...119,410,123
G
Rin3
Ras and Rab interactor 3
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,431,776...121,540,956
Ensembl chr 6:121,431,339...121,540,957
G
Rps6ka5
ribosomal protein S6 kinase A5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,828,823...120,006,190
Ensembl chr 6:119,828,846...120,006,224
G
Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Serpina10
serpin family A member 10
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
G
Serpina1f
serpin family A member 1F
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112
G
Serpina6
serpin family A member 6
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
G
Slc24a4
solute carrier family 24 member 4
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949
G
Tc2n
tandem C2 domains, nuclear
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,761,112...120,856,835
Ensembl chr 6:120,761,119...120,849,326
G
Tdp1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
G
Trip11
thyroid hormone receptor interactor 11
ISO ISS
ClinVar Annotator: match by term: Achondrogenesis, type IA OMIM:200600 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20089971 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29620724 PMID:29872333 PMID:30609409 PMID:30728324 PMID:31903676 PMID:33578785 PMID:34057271 More...
NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
G
Ttc7b
tetratricopeptide repeat domain 7B
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,587,389...119,799,167
Ensembl chr 6:119,587,390...119,799,330
G
Ubr7
ubiquitin protein ligase E3 component n-recognin 7
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
G
Unc79
unc-79 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591
G
Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
OMIM ClinVar CTD RGD
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:9536098 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:17576681 PMID:18708426 PMID:18925670 PMID:19344236 PMID:19763152 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20307669 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:22406018 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26077908 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:30462520 PMID:31880411 PMID:32295296 PMID:34064542 PMID:34094714 PMID:34958143 PMID:8528239 More...
RGD:11068488
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
G
Col2a1
collagen type II alpha 1 chain
ISO ISS
ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta OMIM:200610 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 PMID:8218237 PMID:8244341 PMID:8325895 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9101290 PMID:9536098 PMID:10612821 PMID:10797431 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15054848 PMID:15895462 PMID:16199547 PMID:16752401 PMID:16755660 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17726487 PMID:17994563 PMID:18272325 PMID:18276201 PMID:18553548 PMID:19344236 PMID:19764028 PMID:20179744 PMID:20301479 PMID:20513134 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26747767 PMID:27234559 PMID:27390512 PMID:28492532 PMID:28559085 PMID:29453956 PMID:29620724 PMID:30138938 PMID:30181686 PMID:30792901 PMID:31755234 PMID:32071555 PMID:32756486 PMID:33249554 PMID:34394176 PMID:34573377 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
G
Acan
aggrecan
ISS
OMIM:100800
MouseDO
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
G
Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Achondroplasia
ClinVar
PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 PMID:28492532 PMID:28855619 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fgfr3
fibroblast growth factor receptor 3
severity
ISO ISS
DNA:missense mutation:cds:p.G380R (human) ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome OMIM:100800 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.K650M(human)
ClinVar MouseDO CTD OMIM RGD
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7758520 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599370 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10587515 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10893668 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22529939 PMID:22622662 PMID:22628360 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26126848 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29620724 PMID:29681095 PMID:30138938 PMID:30160829 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36373817 PMID:36714562 PMID:8078586 PMID:10377013 More...
RGD:1598937 , RGD:11568054
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Nppc
natriuretic peptide C
ISS
OMIM:100800
MouseDO
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
G
Npr2
natriuretic peptide receptor 2
ISO ISS
DNA:missense mutation:cds:p.L885R (mouse) OMIM:100800
MouseDO RGD
PMID:15722353
RGD:1580771
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
G
Pthlh
parathyroid hormone-like hormone
ISS
OMIM:100800
MouseDO
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
G
Spred2
sprouty-related, EVH1 domain containing 2
ISS
OMIM:100800
MouseDO
NCBI chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Achondroplastic dwarfism
ClinVar
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17526800 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:22628360 PMID:23045425 PMID:23056398 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26220993 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26992226 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29620724 PMID:29681095 PMID:30138938 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Gdf5
growth differentiation factor 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia
ClinVar
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
G
Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
G
Gdf5
growth differentiation factor 5
ISO ISS
OMIM:200700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Grebe syndrome DNA:missense mutation:cds:c.1285T>C (p.C429R)(human) DNA:missense mutation:cds:c.527T>C(p.L176P)(human) DNA:insertion mutation:cds:1114insGAGT(human)
OMIM MouseDO CTD ClinVar RGD
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532 PMID:18979166 PMID:23812741 PMID:19038017 More...
RGD:12487346 , RGD:12437083 , RGD:12437075
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type
CTD ClinVar
PMID:29322508
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
G
Gdf5
growth differentiation factor 5
ISO ISS
OMIM:201250 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type
OMIM MouseDO CTD ClinVar
PMID:964999 PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 More...
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
G
Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
G
Aqp3
aquaporin 3 (Gill blood group)
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
G
Aqp7
aquaporin 7
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
G
Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
G
Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
G
Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
G
B4galt1
beta-1,4-galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
G
Bag1
BAG cochaperone 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
G
Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
G
Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
G
Ccin
calicin
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
G
Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
G
Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
G
Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
G
Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Chmp5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
G
Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
G
Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
G
Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
G
Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
G
Dcaf12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
G
Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
G
Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
G
Dnaja1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
G
Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
G
Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
G
Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
G
Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
G
Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fbxo10
F-box protein 10
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
G
Frmpd1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
G
Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
G
Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
G
Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
G
Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
G
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
G
Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
G
Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
G
Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
G
Kif24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
G
Melk
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
G
Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
G
Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
G
Ndufb6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
G
Nfx1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
G
Nol6
nucleolar protein 6
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
G
Npr2
natriuretic peptide receptor 2
ISO ISS
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type OMIM:602875 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:17576681 PMID:18945719 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24259409 PMID:24471569 PMID:25387261 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:26349192 PMID:26567084 PMID:26633542 PMID:26980729 PMID:27994189 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30602027 PMID:31960617 PMID:31990356 PMID:32506268 PMID:32694885 PMID:32720985 PMID:33205215 PMID:33288834 PMID:34006472 PMID:34008892 PMID:34162036 PMID:34217350 PMID:35455946 More...
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
G
Nudt2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
G
Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
G
Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
G
Pax5
paired box 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
G
Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
G
Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
G
Polr1e
RNA polymerase I subunit E
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
G
Prss3
serine protease 3
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
G
Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
G
Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
G
Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
G
Rnf38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
G
Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
G
Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
G
Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
G
Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
G
Smu1
SMU1, DNA replication regulator and spliceosomal factor
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
G
Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 PMID:22691581 PMID:25387261 PMID:25741868 PMID:26567084 PMID:26633542 PMID:28492532 PMID:30359775 PMID:30408610 PMID:31960617 PMID:32720985 More...
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
G
Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
G
Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
G
Spink4
serine peptidase inhibitor, Kazal type 4
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
G
Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
G
Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
G
Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
G
Tln1
talin 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
G
Tmem215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
G
Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
G
Tomm5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
G
Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
G
Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
G
Trmt10b
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
G
Ubap1
ubiquitin-associated protein 1
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
G
Ubap2
ubiquitin-associated protein 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
G
Ube2r2
ubiquitin-conjugating enzyme E2R 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
G
Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Zbtb5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
G
Zcchc7
zinc finger CCHC-type containing 7
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
ClinVar
PMID:28492532
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Prkg2
protein kinase cGMP-dependent 2
ISO
ClinVar Annotator: match by term: Acromesomelic dysplasia 4
OMIM ClinVar
PMID:25741868 PMID:33106379 PMID:34782440
NCBI chr14:10,559,882...10,668,479
Ensembl chr14:10,559,882...10,666,888
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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition
OMIM CTD ClinVar
PMID:21937992 PMID:22865833 PMID:25741868 PMID:26374271 PMID:26539891 PMID:26607181 PMID:28492532 PMID:30006060 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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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
ISO
ClinVar Annotator: match by term: AMED syndrome, digenic
OMIM ClinVar
PMID:25741868 PMID:33355142
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC
ClinVar
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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Spaar
small regulatory polypeptide of amino acid response
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,985,423...57,987,482
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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Spata31f3
SPATA31 subfamily F member 3
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164
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Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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Tln1
talin 1
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia
ClinVar
PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 1
ClinVar
PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 More...
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Pop1
POP1 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 2
OMIM ClinVar
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 PMID:30408610 More...
NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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Nepro
nucleolus and neural progenitor protein
ISO
ClinVar Annotator: match by term: Anauxetic dysplasia 3
OMIM ClinVar
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547
NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432
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Flnb
filamin B
ISO
ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:25741868 PMID:28492532 More...
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1
ClinVar
PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Dvl3
dishevelled segment polarity protein 3
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1
ClinVar
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530
NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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Fzd2
frizzled class receptor 2
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1
ClinVar
PMID:25741868 PMID:25759469 PMID:29276006 PMID:30455931
NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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Ror2
receptor tyrosine kinase-like orphan receptor 2
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Wnt5a
Wnt family member 5A
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1
OMIM ClinVar
PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29276006 PMID:30760477 More...
NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234
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Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2
ClinVar
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Dvl1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2
OMIM ClinVar
PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 PMID:25817014 PMID:25817016 PMID:26924530 PMID:28492532 PMID:29276006 More...
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Dvl3
dishevelled segment polarity protein 3
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2
ClinVar
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006
NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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Fzd2
frizzled class receptor 2
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2
ClinVar
PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 PMID:30455931
NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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Dvl3
dishevelled segment polarity protein 3
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition
OMIM ClinVar
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:28492532
NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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Fzd2
frizzled class receptor 2
ISO
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3
ClinVar
PMID:29276006
NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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Prickle1
prickle planar cell polarity protein 1
ISS
OMIM:268310
MouseDO
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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Ror2
receptor tyrosine kinase-like orphan receptor 2
ISO ISS
OMIM:268310 ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human) DNA:nonsense mutation:cds:p.W749X(mouse)
OMIM MouseDO ClinVar CTD RGD
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 PMID:16049033 PMID:17665217 PMID:18252861 PMID:18414213 PMID:18831060 PMID:19640924 PMID:25741868 PMID:26284319 PMID:28492532 PMID:24932600 PMID:14745966 PMID:18353862 More...
RGD:11537348 , RGD:11537347 , RGD:11535948
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Nxn
nucleoredoxin
ISO
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29276006
NCBI chr10:61,109,322...61,247,578
Ensembl chr10:61,110,020...61,248,251
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Kat6b
lysine acetyltransferase 6B
ISO
DNA:mutations:cds:multiple (human) 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 Direct Evidence: marker/mechanism
ClinVar CTD 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:28492532 PMID:28758091 PMID:30353918 PMID:32424177 PMID:22077973 More...
RGD:9588484
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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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
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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
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Flnb
filamin B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia
OMIM CTD ClinVar
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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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
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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:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
OMIM 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:18788921 PMID:23379327 PMID:23911641 More...
RGD:12914770 , RGD:11073166 , RGD:12914769 , RGD:12914768
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 k6
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
Rpl10l1
ribosomal protein L10 like 1
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
G
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
G
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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
OMIM CTD ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 More...
NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
DNA:point mutation: :c.3862C>T (human) ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II CTD Direct Evidence: marker/mechanism DNA:nonsense mutation
OMIM ClinVar CTD RGD
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10739753 PMID:10767341 PMID:11809892 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25026993 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25741868 PMID:25820262 PMID:26206375 PMID:27004399 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:35135151 PMID:36099812 PMID:20456449 PMID:10739753 More...
RGD:10401092 , RGD:10401101
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
DNA:missense mutations:p.R616W, p.D681N (human) ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 PMID:9101292 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621 PMID:10447254 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11585917 PMID:11709541 PMID:11710928 PMID:11734544 PMID:12116233 PMID:12820975 PMID:15494306 PMID:15534626 PMID:15982307 PMID:16054878 PMID:16135823 PMID:16199547 PMID:17576681 PMID:18470933 PMID:18510924 PMID:18510925 PMID:18578568 PMID:18637129 PMID:18709642 PMID:19085937 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23382212 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26556299 PMID:26577220 PMID:26884178 PMID:26957611 PMID:26993158 PMID:27004399 PMID:27396511 PMID:27504877 PMID:27607234 PMID:28492532 PMID:28749383 PMID:29141312 PMID:29169765 PMID:29478780 PMID:29607586 PMID:29754767 PMID:30919937 PMID:31282071 PMID:31803976 PMID:31937902 PMID:32047639 PMID:32830346 PMID:32974964 PMID:33095795 PMID:33199492 PMID:34308104 PMID:35477182 PMID:36033485 PMID:11443545 More...
RGD:1601070
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Klc3
kinesin light chain 3
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar
PMID:25741868
NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416
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Ercc5
ERCC excision repair 5, endonuclease
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3
OMIM CTD ClinVar
PMID:8818951 PMID:9096355 PMID:9536098 PMID:11443545 PMID:17466625 PMID:17576681 PMID:24700531 PMID:24728327 PMID:25741868 PMID:28492532 PMID:29641532 PMID:30306255 PMID:30838033 PMID:31130284 More...
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
OMIM CTD ClinVar
PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 PMID:33315086 More...
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Polr1g
RNA polymerase I subunit G
ISO
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar
PMID:25741868 PMID:28492532 PMID:33116287
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Cockayne syndrome
ClinVar
PMID:17273966 PMID:23623389
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse)
RGD
PMID:16904611
RGD:10401080
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
RGD
PMID:19114557
RGD:10401087
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Progeroid nanism
ClinVar
PMID:20221251 PMID:21612988 PMID:23623389 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:28492532 PMID:29325523 PMID:29892709 PMID:30165384 More...
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome
ClinVar RGD
PMID:2478446 PMID:8317483 PMID:9096355 PMID:11228268 PMID:25741868 PMID:30838033 PMID:15082767 More...
RGD:10401090
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO ISS
DNA:insertion: :c.1034_1035insT (human) ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human) DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)
MouseDO ClinVar CTD RGD
PMID:7264357 PMID:9443879 PMID:9777763 PMID:10739753 PMID:10767341 PMID:15486090 PMID:16199547 PMID:18414213 PMID:18628313 PMID:19894250 PMID:20122405 PMID:21143350 PMID:21228398 PMID:22466610 PMID:22466612 PMID:22483866 PMID:25326635 PMID:25440059 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26972010 PMID:27004399 PMID:27356891 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:29955172 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:34052969 PMID:18446857 PMID:25463447 PMID:23599700 More...
RGD:10401095 , RGD:11567232 , RGD:10401100
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO ISS
ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Y322X (human)
ClinVar MouseDO CTD RGD
PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 PMID:17576681 PMID:19309286 PMID:19329487 PMID:19894250 PMID:21108394 PMID:22466610 PMID:22466612 PMID:24033266 PMID:25333069 PMID:25741868 PMID:28492532 PMID:29572252 PMID:30182135 PMID:30200888 PMID:30871974 PMID:32404165 PMID:32453336 PMID:34461059 PMID:34758253 PMID:22824526 PMID:19894250 PMID:21108394 More...
RGD:7246919 , RGD:11064547 , RGD:10401108
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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Ghr
growth hormone receptor
ISO
RGD
PMID:17326724
RGD:10003139
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
ISO
RGD
PMID:17326724
RGD:10003139
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Ndufaf2
NADH:ubiquinone oxidoreductase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism
ClinVar
PMID:14661080 PMID:15744458 PMID:19329487 PMID:19894250 PMID:24033266 PMID:25333069 PMID:25741868 PMID:28492532 PMID:29572252 More...
NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
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Xpa
XPA, DNA damage recognition and repair factor
ISO
RGD
PMID:19114557
RGD:10401087
NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726
G
Ercc8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: ERCC8-related condition
ClinVar OMIM RGD
PMID:7664335 PMID:9338586 PMID:9536098 PMID:14661080 PMID:15744458 PMID:16199547 PMID:16865293 PMID:16949367 PMID:17576681 PMID:18180188 PMID:18414213 PMID:18695064 PMID:19309286 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21108394 PMID:21681106 PMID:21924235 PMID:22099533 PMID:22829088 PMID:24033266 PMID:25333069 PMID:25525159 PMID:25741868 PMID:26173784 PMID:26616585 PMID:27004399 PMID:27597947 PMID:28492532 PMID:29057985 PMID:29422660 PMID:29531219 PMID:29572252 PMID:29742419 PMID:30182135 PMID:30200888 PMID:30871974 PMID:31319225 PMID:32048102 PMID:32404165 PMID:32453336 PMID:32557569 PMID:33199595 PMID:34461059 PMID:34758253 PMID:16865293 More...
RGD:10401106
NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
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Ndufaf2
NADH:ubiquinone oxidoreductase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1
ClinVar
PMID:14661080 PMID:15744458 PMID:18180188 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21681106 PMID:21924235 PMID:22099533 PMID:24033266 PMID:25333069 PMID:25741868 PMID:27597947 PMID:28492532 PMID:29572252 More...
NCBI chr 2:39,535,680...39,647,378
Ensembl chr 2:39,535,689...39,647,316
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
IMP ISO
ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B
OMIM ClinVar RGD
PMID:887325 PMID:1339317 PMID:7063265 PMID:7264357 PMID:9150142 PMID:9443879 PMID:9536098 PMID:9777763 PMID:10196384 PMID:10767341 PMID:11809892 PMID:15486090 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18446857 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22466610 PMID:22483866 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25026993 PMID:25136123 PMID:25251875 PMID:25326635 PMID:25356239 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26749132 PMID:27004399 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:29955172 PMID:30111349 PMID:30842647 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:32860008 PMID:34052969 PMID:35135151 PMID:36099812 PMID:31644904 More...
RGD:126925983
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc6em1Cgen
ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen
IMP
RGD
PMID:31644904
RGD:126925983
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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
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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: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:32870266 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: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
G
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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Foxe1
forkhead box E1
ISS
MouseDO
NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
G
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
G
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
G
Iyd
iodotyrosine deiodinase
ISO
ClinVar Annotator: match by term: Congenital hypothyroidism
ClinVar
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
G
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
G
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:9171822
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:15769978 PMID:16199547 PMID:16403815 PMID:16720658 PMID:17532758 PMID:19837936 PMID:20410234 PMID:21128992 PMID:21372558 PMID:23164529 PMID:23457313 PMID:25741868 PMID:28492532 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
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
G
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 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:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:16060907 PMID:17062880 PMID:17705697 PMID:18727713 PMID:21186955 PMID:21642385 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30372544 PMID:32368696 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
G
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:10037069 PMID:10560953 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16060907 PMID:16756469 PMID:17062880 PMID:17524032 PMID:17526952 PMID:17705697 PMID:17953807 PMID:18379122 PMID:18727713 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 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:30083029 PMID:30240412 PMID:30372544 PMID:31356790 PMID:32368696 PMID:32469330 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
G
Cep128
centrosomal protein 128
ISO
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar
PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:16060907 PMID:17062880 PMID:17705697 PMID:18727713 PMID:21186955 PMID:21642385 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30372544 PMID:32368696 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
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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:10037069 PMID:10560953 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16060907 PMID:16756469 PMID:17062880 PMID:17524032 PMID:17526952 PMID:17705697 PMID:17953807 PMID:18379122 PMID:18727713 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 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:30083029 PMID:30240412 PMID:30372544 PMID:31356790 PMID:32368696 PMID:32469330 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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Tshb
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pituitary cretinism
OMIM CTD ClinVar
PMID:1971148 PMID:2792087 PMID:8636437 PMID:9589689 PMID:11297590 PMID:11549695 PMID:11788671 PMID:12364478 PMID:15292359 PMID:15297803 PMID:22606512 PMID:24423284 PMID:25741868 PMID:25950606 PMID:26416826 PMID:27362444 PMID:27387040 PMID:28492532 PMID:31166470 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
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884 More...
NCBI chr10:16,340,428...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: Hypothyroidism, congenital, nongoitrous, 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6
OMIM CTD ClinVar
PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 PMID:25670821 PMID:25741868 PMID:28492532 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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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD ClinVar OMIM
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:11809892 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:33904453 PMID:34005834 PMID:34052969 More...
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Cant1
calcium activated nucleotidase 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION OMIM:251450 | OMIM:615777
CTD ClinVar MouseDO
PMID:19853239 PMID:25741868
NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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Xylt1
xylosyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Abcc1
ATP binding cassette subfamily C member 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abcc6
ATP binding cassette subfamily C member 6
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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Cant1
calcium activated nucleotidase 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31587486 PMID:31988067 PMID:32907608 PMID:34270679 More...
NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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Cep20
centrosomal protein 20
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721
NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Nomo1
Nodal modulator 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721
NCBI chr 1:96,505,460...96,556,280
Ensembl chr 1:96,505,484...96,556,279
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Xylt1
xylosyltransferase 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28085539 PMID:28229453 PMID:28462984 PMID:28492532 PMID:30554721 PMID:31785789 More...
NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Xylt1
xylosyltransferase 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 2
OMIM ClinVar
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 PMID:30554721 More...
NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Manf
mesencephalic astrocyte-derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome
OMIM ClinVar
PMID:26077850 PMID:33500254
NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
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Slc26a2
solute carrier family 26 member 2
ISO ISS
OMIM:222600 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human)
OMIM MouseDO CTD ClinVar RGD
PMID:702237 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8702490 PMID:8723083 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10466420 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12220459 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26752647 PMID:27065010 PMID:27848944 PMID:28492532 PMID:28941661 PMID:29024831 PMID:30423444 PMID:30462520 PMID:31880411 PMID:34064542 PMID:10482955 PMID:15703192 More...
RGD:13208932 , RGD:13208867
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant
ClinVar
PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 PMID:20301524
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Dph1
diphthamide biosynthesis 1
ISO
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair
ClinVar
PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 PMID:28492532 PMID:29362492 PMID:29410513 PMID:29565416 PMID:30877278 PMID:32595695 PMID:32732226 More...
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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Dph2
diphthamide biosynthesis 2
ISO
ClinVar Annotator: match by term: diphthamide-deficiency syndrome
ClinVar
PMID:25741868 PMID:27421267 PMID:32576952
NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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Dph1
diphthamide biosynthesis 1
ISO
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25558065 PMID:25741868 PMID:30877278
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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Dph2
diphthamide biosynthesis 2
ISO
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
ClinVar OMIM
PMID:25741868 PMID:27421267 PMID:32576952
NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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Dym
dymeclin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
OMIM CTD ClinVar
PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 PMID:18996921 PMID:22090722 PMID:25741868 PMID:28492532 PMID:32886330 More...
NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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Grhl2
grainyhead-like transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome
OMIM CTD ClinVar
PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532
NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis
ClinVar
PMID:12110737 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
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
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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Col11a1
collagen type XI alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrochondrogenesis
CTD ClinVar
PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:28492532 PMID:32427345 PMID:32756486 More...
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col11a2
collagen type XI alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col11a1
collagen type XI alpha 1 chain
ISO
ClinVar Annotator: match by term: Fibrochondrogenesis 1
ClinVar OMIM
PMID:9536098 PMID:10486316 PMID:16199547 PMID:17236192 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:23922384 PMID:23967202 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:30245029 PMID:32427345 PMID:32756486 More...
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Fibrochondrogenesis 1
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Fibrochondrogenesis 2
OMIM ClinVar
PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:17576681 PMID:21204229 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:28692176 PMID:30311386 More...
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Du pan syndrome
ClinVar
PMID:228900 PMID:258150
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Gdf5
growth differentiation factor 5
ISO ISS
OMIM:228900 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acromesomelic dysplasia 2B DNA:missense mutation:cds:T1322C (p.L441P)(human)
OMIM MouseDO CTD ClinVar RGD
PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 PMID:25741868 PMID:28492532 PMID:12121354 More...
RGD:12437084
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome
ClinVar OMIM
PMID:36282599 PMID:36299998
NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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Gorab
golgin, RAB6-interacting
ISO
ClinVar Annotator: match by term: Geroderma osteodysplastica CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:631850 PMID:18997784 PMID:19681135 PMID:25741868 PMID:28492532 PMID:28807865 PMID:31829210 More...
NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
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Cavin1
caveolae associated protein 1
ISO
ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5a
signal transducer and activator of transcription 5A
ISO
ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
ClinVar
PMID:28492532
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Stat5b
signal transducer and activator of transcription 5B
ISO
ClinVar Annotator: match by term: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:13679528 PMID:15827093 PMID:16199547 PMID:16464942 PMID:16787985 PMID:17030597 PMID:17576681 PMID:20538865 PMID:24033266 PMID:24825865 PMID:24972766 PMID:25586472 PMID:25741868 PMID:26703237 PMID:27600764 PMID:28492532 PMID:29200404 PMID:29844444 PMID:34006472 More...
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Stat5b
signal transducer and activator of transcription 5B
ISO
ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29844444 PMID:31690038 PMID:31902742
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Stat5b
signal transducer and activator of transcription 5B
ISO
ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
susceptibility
ISO
ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 PMID:24289790 PMID:25741868 PMID:26378117 PMID:26820768 PMID:27105045 PMID:28492532 More...
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
ClinVar
PMID:28492532
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Fgfr3
fibroblast growth factor receptor 3
ISO ISS
ClinVar Annotator: match by term: Hypochondroplasia OMIM:146000 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
OMIM ClinVar MouseDO CTD RGD
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11314002 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18000903 PMID:18076102 PMID:18198189 PMID:18252861 PMID:18266238 PMID:18328977 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:22628360 PMID:22903874 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23726269 PMID:23972473 PMID:24411048 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26754866 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28181399 PMID:28230213 PMID:28492532 PMID:28763161 PMID:28777845 PMID:29595812 PMID:29620724 PMID:29681095 PMID:30138938 PMID:30355600 PMID:30681580 PMID:30692697 PMID:30753492 PMID:31048079 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33511985 PMID:33942288 PMID:36373817 PMID:36714562 PMID:18583390 More...
RGD:11568026
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Ghr
growth hormone receptor
ISO
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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 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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Pus7
pseudouridine synthase 7
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859
NCBI chr 4:11,360,169...11,401,139
Ensembl chr 4:11,360,188...11,401,172
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Iqsec1
IQ motif and Sec7 domain ArfGEF 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31607425
NCBI chr 4:123,168,719...123,488,300
Ensembl chr 4:123,168,719...123,488,172
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations
OMIM ClinVar
PMID:11477608 PMID:25741868 PMID:30481285
NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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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 PMID:33004838 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 IAGP
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 PMID:2752987 More...
RGD:12904703 , RGD:1578505
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gh1sdr
IAGP
RGD
PMID:2752987
RGD:1578505
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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
ISO IAGP
isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency DNA:deletion
ClinVar RGD
PMID:8528260 PMID:9845677
RGD:1601337 , RGD:1601338
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:11089535 PMID:3366187
RGD:730133 , RGD:12880373
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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1 DNA:deletion: :
OMIM CTD ClinVar 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: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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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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
OMIM CTD ClinVar
PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 PMID:10678654 PMID:10689634 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 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: Isolated growth hormone deficiency type IB
ClinVar OMIM
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:16135671 PMID:16199547 PMID:16284391 PMID:16355809 PMID:16522693 PMID:17356054 PMID:17911170 PMID:18297129 PMID:18785993 PMID:19622623 PMID:21044116 PMID:22489751 PMID:23052699 PMID:25153028 PMID:25541890 PMID:25741868 PMID:27114065 PMID:28492532 PMID:29412390 PMID:31231873 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 OMIM:173100 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 PMID:9175738 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 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:3486747 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:8332900 PMID:8332901 PMID:8380905 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:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11027452 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:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15358621 PMID:15661032 PMID:15821893 PMID:16159644 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16729790 PMID:16862044 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:21520333 PMID:21984432 PMID:22406018 PMID:22736418 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24307874 PMID:24383975 PMID:24477949 PMID:24586880 PMID:24658450 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 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:28236219 PMID:28359783 PMID:28418267 PMID:28492532 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:32067425 PMID:32441320 PMID:32455989 PMID:32499645 PMID:32552675 PMID:32581362 PMID:32888943 PMID:33154951 PMID:33224144 PMID:33377626 PMID:33815962 PMID:34029777 PMID:34182127 PMID:34262886 PMID:35382780 PMID:36029036 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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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
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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
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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
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Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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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
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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
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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
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Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 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: 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
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Gzf1
GDNF-inducible zinc finger protein 1
ISO
ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia
OMIM ClinVar
PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841
NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223
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Esco2
establishment of sister chromatid cohesion N-acetyltransferase 2
ISO
ClinVar Annotator: match by term: Juberg-Hayward syndrome
OMIM ClinVar
PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 PMID:32977150 More...
NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome
ClinVar
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29334594 PMID:30089473 PMID:30143558 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Fam111a
FAM111 trypsin like peptidase A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome
OMIM CTD ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 PMID:28492532 PMID:29073591 PMID:32996714 More...
NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30408610 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Gh1
growth hormone 1
ISO
DNA:point mutation:exon:p.D122G (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
CTD ClinVar 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:9276733 More...
RGD:1601313
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 ISS
DNA:deletion:exon,intron: DNA:nonsense, missense, deletion mutations:cds, splice junction: CTD Direct Evidence: marker/mechanism OMIM:262500 ClinVar Annotator: match by term: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome with elevated serum GH-binding protein | ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect
OMIM CTD MouseDO ClinVar RGD
PMID:1284474 PMID:1719554 PMID:1999489 PMID:2233903 PMID:2779634 PMID:2813379 PMID:7565946 PMID:8137822 PMID:8421103 PMID:8450064 PMID:8488849 PMID:8504296 PMID:8521189 PMID:8626815 PMID:8664975 PMID:9360502 PMID:9360529 PMID:9467570 PMID:9626125 PMID:9661611 PMID:9661642 PMID:9814495 PMID:9851797 PMID:10084588 PMID:10984309 PMID:11395710 PMID:11468686 PMID:11502828 PMID:11785980 PMID:11836282 PMID:12181638 PMID:12217488 PMID:12423626 PMID:12679461 PMID:12910492 PMID:15001620 PMID:15055350 PMID:15536163 PMID:16199547 PMID:16213173 PMID:16381017 PMID:17148568 PMID:17405847 PMID:17462934 PMID:17547682 PMID:19344888 PMID:19447840 PMID:19815155 PMID:20962506 PMID:21525302 PMID:21846964 PMID:21900382 PMID:24150201 PMID:24335149 PMID:24664892 PMID:25101218 PMID:25411237 PMID:25741868 PMID:26467025 PMID:27408750 PMID:28492532 PMID:28498917 PMID:28870985 PMID:31690835 PMID:36110220 PMID:9371826 PMID:25196842 PMID:9024232 More...
RGD:11565834 , RGD:11565835 , RGD:11567215
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
ISO
protein:decreased expression:serum:
RGD
PMID:21054577
RGD:8549489
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Mdm2
MDM2 proto-oncogene
ISO
ClinVar Annotator: match by term: Lessel-kubisch syndrome
ClinVar OMIM
PMID:28846075
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:21964829 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22791502 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24830047 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27530454 PMID:27751652 PMID:28166811 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:32381727 PMID:34008892 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Pcnt
pericentrin
ISO
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism
ClinVar
PMID:18414213 PMID:28492532
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Clasp1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1
ClinVar
PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:21990275 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26419500 PMID:26522830 PMID:26641461 PMID:27040866 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:30214071 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32595695 PMID:32628740 PMID:33059947 More...
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Pcnt
pericentrin
ISO ISS
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition OMIM:210720 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human) DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21270239 PMID:21567919 PMID:22821869 PMID:23033978 PMID:24033266 PMID:24928221 PMID:25326635 PMID:25363768 PMID:25741868 PMID:27124789 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30214071 PMID:30922925 PMID:32267100 PMID:32818659 PMID:35568357 PMID:18157127 PMID:19643772 PMID:18174396 PMID:21567919 More...
RGD:11537403 , RGD:11537402 , RGD:11537401 , RGD:11537400
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Trmt10a
tRNA methyltransferase 10A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1
OMIM CTD ClinVar
PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532
NCBI chr 2:226,669,445...226,684,166
Ensembl chr 2:226,669,832...226,684,151
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Ppp1r15b
protein phosphatase 1, regulatory subunit 15B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2
OMIM CTD ClinVar
PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532
NCBI chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737
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Rttn
rotatin
ISO
ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:22939636 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26608784 PMID:26846091 PMID:26940245 PMID:28492532 PMID:29883675 PMID:30121372 More...
NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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Smc5
structural maintenance of chromosomes 5
ISO
ClinVar Annotator: match by term: Atelis syndrome 2
OMIM ClinVar
PMID:36333305
NCBI chr 1:220,769,366...220,839,138
Ensembl chr 1:220,769,366...220,839,096
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Mir301a
microRNA 301a
ISO
ClinVar Annotator: match by term: Mulibrey nanism syndrome
ClinVar
PMID:21681106
NCBI chr10:71,925,336...71,925,435
Ensembl chr10:71,925,336...71,925,435
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Pnpla7
patatin-like phospholipase domain containing 7
ISO
ClinVar Annotator: match by term: Mulibrey nanism syndrome
ClinVar
NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
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Ppm1e
protein phosphatase, Mg2+/Mn2+ dependent, 1E
ISO
ClinVar Annotator: match by term: Mulibrey nanism syndrome
ClinVar
PMID:25741868
NCBI chr10:72,051,643...72,187,439
Ensembl chr10:72,055,208...72,187,282
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Prr11
proline rich 11
ISO
ClinVar Annotator: match by term: Mulibrey nanism syndrome
ClinVar
PMID:21681106
NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012
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Ska2
spindle and kinetochore associated complex subunit 2
ISO
ClinVar Annotator: match by term: Mulibrey nanism syndrome
ClinVar
PMID:21681106
NCBI chr10:71,921,474...71,939,461
Ensembl chr10:71,921,582...71,939,458
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Trim37
tripartite motif-containing 37
ISO ISS
ClinVar Annotator: match by term: Mulibrey nanism syndrome | ClinVar Annotator: match by term: Perheentupa syndrome OMIM:253250 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10888877 PMID:12754710 PMID:14757854 PMID:15108285 PMID:15885686 PMID:16199547 PMID:17100991 PMID:17551331 PMID:21681106 PMID:25741868 PMID:28492532 PMID:33042106 More...
NCBI chr10:71,943,384...72,075,563
Ensembl chr10:71,943,375...72,075,558
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Trpm3
transient receptor potential cation channel, subfamily M, member 3
ISO
ClinVar Annotator: match by term: Perheentupa syndrome
ClinVar
PMID:25741868 PMID:29539642 PMID:31278393 PMID:32343227 PMID:32439617 PMID:34438093 PMID:35146895 More...
NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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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
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Dph5
diphthamide biosynthesis 5
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
OMIM ClinVar
PMID:25741868 PMID:35482014
NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
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Slc30a7
solute carrier family 30 member 7
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
ClinVar
PMID:25741868 PMID:35482014
NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OMIM CTD ClinVar
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31135245 PMID:31780887 More...
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Col11a2
collagen type XI alpha 2 chain
ISO ISS
OMIM:215150 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive DNA:missense mutation:exon:p.G175R (human)
OMIM MouseDO CTD ClinVar RGD
PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:16637051 PMID:17576681 PMID:21204229 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:28692176 PMID:30311386 PMID:32747562 PMID:7859284 More...
RGD:12904710
NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
CTD ClinVar
PMID:16189708 PMID:25326635 PMID:25741868
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Parastremmatic dwarfism
OMIM CTD ClinVar
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:32381727 PMID:34008892 More...
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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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
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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
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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
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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
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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
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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
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Slc26a4
solute carrier family 26 member 4
ISO ISS
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 DNA:mutations:multiple (human)
OMIM ClinVar MouseDO CTD 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:18381613 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: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:29372807 PMID:29501320 PMID:29546359 PMID:29605365 PMID:29739340 PMID:29907799 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30113565 PMID:30139988 PMID:30154845 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30311386 PMID:30484383 PMID:30622556 PMID:30693673 PMID:30760291 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: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:34426522 PMID:34539567 PMID:34545167 PMID:34599368 PMID:34632506 PMID:34752165 PMID:34801268 PMID:35249537 PMID:35276235 PMID:35802133 PMID:35816303 PMID:35982127 PMID:36633841 PMID:15355436 PMID:14508505 PMID:11152663 More...
RGD:7421514 , RGD:7421510 , RGD:7411554
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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Prim1
DNA primase subunit 1
ISO
ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
ClinVar OMIM
PMID:33060134
NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526
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Comp
cartilage oligomeric matrix protein
ISO ISS
ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome OMIM:177170 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9880218 PMID:9887340 PMID:9921895 PMID:10405447 PMID:11565064 PMID:11746044 PMID:11746045 PMID:12483304 PMID:12768438 PMID:15756302 PMID:17394206 PMID:17570134 PMID:20936634 PMID:21922596 PMID:21965141 PMID:23956175 PMID:24595329 PMID:25741868 PMID:26377240 PMID:28044000 PMID:28492532 PMID:30138938 PMID:34709441 More...
NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 PMID:15964893 PMID:16199547 PMID:17250975 PMID:18504617 PMID:18716613 PMID:19291770 PMID:20113479 PMID:22885111 PMID:23238538 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25741868 PMID:25966250 PMID:27247962 PMID:28486640 PMID:28492532 PMID:29367366 PMID:29478780 PMID:29625052 PMID:31829210 PMID:32482547 PMID:33046774 PMID:33077847 PMID:33294214 More...
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Dnaaf4
dynein axonemal assembly factor 4
ISS
MouseDO
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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Dvl1
dishevelled segment polarity protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Dvl3
dishevelled segment polarity protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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Wnt5a
Wnt family member 5A
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans
OMIM ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Atr
ATR serine/threonine kinase
susceptibility
ISO
DNA:point mutation:2101A>G (human) ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 PMID:16199547 PMID:17010193 PMID:17576681 PMID:18414213 PMID:21228398 PMID:23111928 PMID:23144622 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26845104 PMID:28492532 PMID:29439820 PMID:30159786 PMID:30199583 PMID:30262796 PMID:30995915 PMID:32606146 PMID:33057211 PMID:34008015 PMID:12640452 PMID:19620979 More...
RGD:1599404 , RGD:10053614
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Seckel syndrome 1
ClinVar
PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Cep152
centrosomal protein 152
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21131973
NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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Pcnt
pericentrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18157127
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Pcnt
pericentrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18174396
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Rbbp8
RB binding protein 8, endonuclease
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2
OMIM CTD ClinVar
PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 PMID:27848944 PMID:28492532 More...
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Seckel syndrome 4 CTD Direct Evidence: marker/mechanism DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)
OMIM ClinVar CTD RGD
PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 PMID:20522431 PMID:23166506 More...
RGD:11541118 , RGD:11541114
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Rnf17
ring finger protein 17
ISO
ClinVar Annotator: match by term: Seckel syndrome 4
ClinVar
PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Adamtsl2
ADAMTS-like 2
ISO
ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type
ClinVar
PMID:18677313 PMID:20301776 PMID:24251637 PMID:25741868 PMID:30195254
NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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Cenpt
centromere protein T
ISO
ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies
OMIM ClinVar
PMID:25741868 PMID:29228025
NCBI chr19:33,734,684...33,741,159
Ensembl chr19:33,734,685...33,741,142
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Cript
CXXC repeat containing interactor of PDZ3 domain
ISO
ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies
OMIM ClinVar
PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:31101064
NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399
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Pigf
phosphatidylinositol glycan anchor biosynthesis, class F
ISO
ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies
ClinVar
PMID:27250922
NCBI chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675
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Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities
OMIM ClinVar
PMID:15146390 PMID:15572448 PMID:16384845 PMID:22691581 PMID:24001744 PMID:24471569 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26349192 PMID:27994189 PMID:28492532 PMID:30602027 PMID:31960617 PMID:31990356 PMID:34006472 More...
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities
ClinVar
PMID:16384845 PMID:22691581 PMID:25741868 PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Pappa2
pappalysin 2
ISO
ClinVar Annotator: match by term: Short stature, Dauber-Argente type
OMIM ClinVar
PMID:25741868 PMID:26902202 PMID:34272725
NCBI chr13:70,873,918...71,147,874
Ensembl chr13:70,876,794...71,147,779
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Tkt
transketolase
ISO
ClinVar Annotator: match by term: Transketolase deficiency
OMIM ClinVar
PMID:25741868 PMID:27259054 PMID:28492532
NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
ClinVar
PMID:25741868 PMID:28492532 PMID:29198724
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
OMIM ClinVar
PMID:21671386 PMID:25741868 PMID:28492532 PMID:29198724 PMID:35227291
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Scube3
signal peptide, CUB domain and EGF like domain containing 3
ISO
ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
OMIM ClinVar
PMID:25741868 PMID:33308444
NCBI chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584
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Exosc2
exosome component 2
ISO
ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
OMIM ClinVar
PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:26843489 PMID:28492532 PMID:31628467 PMID:34162742 More...
NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575
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Xrcc2
X-ray repair cross complementing 2
ISO
ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction
ClinVar
PMID:11118202 PMID:22232082 PMID:26046366 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 PMID:30306255 PMID:32832836 More...
NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
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Xrcc4
X-ray repair cross complementing 4
ISO
ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition
OMIM ClinVar
PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:25742519 PMID:25839420 PMID:25872942 PMID:26255102 PMID:26822949 PMID:28492532 More...
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Polr3gl
RNA polymerase III subunit GL
ISO
ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay
OMIM ClinVar
PMID:25741868 PMID:31089205 PMID:31695177
NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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Arcn1
archain 1
ISO
ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
OMIM ClinVar
PMID:25741868 PMID:27476655 PMID:28492532 PMID:31075182 PMID:33154040 PMID:35300924 More...
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency
ClinVar
PMID:25741868
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Foxp2
forkhead box P2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17033973
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
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H19
H19 imprinted maternally expressed transcript
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19066168
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19066168
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 1
ClinVar
PMID:24065356 PMID:24624461 PMID:28492532 PMID:31976094 PMID:33076988
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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Dlk1
delta like non-canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 1
ClinVar
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 1
ClinVar
PMID:28796236
NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784
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Igf2
insulin-like growth factor 2
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 1
ClinVar
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 1
ClinVar
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 1
ClinVar
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Plag1
PLAG1 zinc finger
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 1
ClinVar
PMID:28796236
NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647
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Igf2
insulin-like growth factor 2
ISO
ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3
OMIM ClinVar
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 PMID:30400067 More...
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3
ClinVar
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 PMID:30400067 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Plag1
PLAG1 zinc finger
ISO
ClinVar Annotator: match by term: PLAG1-related condition | ClinVar Annotator: match by term: Silver-russell syndrome 4
OMIM ClinVar
PMID:25741868 PMID:28796236
NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647
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Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Silver-Russell syndrome 5
OMIM ClinVar
PMID:25741868 PMID:25809938 PMID:28492532 PMID:28796236 PMID:29453418
NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784
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Hspg2
heparan sulfate proteoglycan 2
ISO ISS
ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan OMIM:224410 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:11279527 PMID:25741868 PMID:28492532
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Plec
plectin
ISO
ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin
ClinVar
PMID:25741868
NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467
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Csgalnact1
chondroitin sulfate N-acetylgalactosaminyltransferase 1
ISO
ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age
OMIM ClinVar
PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726
NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
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Dym
dymeclin
ISO ISS
ClinVar Annotator: match by term: Smith-McCort dysplasia CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD
PMID:25741868 PMID:28492532
NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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Rab33b
RAB33B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Smith-McCort dysplasia
ClinVar
NCBI chr 2:135,528,116...135,538,719
Ensembl chr 2:135,528,116...135,538,719
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Dym
dymeclin
ISO
ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1
ClinVar OMIM
PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 PMID:28492532 More...
NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903
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Rab33b
RAB33B, member RAS oncogene family
ISO ISS
OMIM:615222 ClinVar Annotator: match by term: Smith-McCort dysplasia 2
OMIM MouseDO ClinVar
PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 PMID:28492532 More...
NCBI chr 2:135,528,116...135,538,719
Ensembl chr 2:135,528,116...135,538,719
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OMIM CTD ClinVar
PMID:8434618 PMID:8818447 PMID:19110212 PMID:20223752 PMID:25741868 PMID:28492532 PMID:29904280 PMID:32381727 More...
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Pam16
presequence translocase associated motor 16
ISO
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type
OMIM ClinVar
PMID:24786642 PMID:27354339 PMID:28492532
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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H4c3
H4 clustered histone 3
ISO
ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1
OMIM ClinVar
PMID:15808514 PMID:19818714 PMID:25741868 PMID:28920961
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Fgfr3
fibroblast growth factor receptor 3
ISO ISS
ClinVar Annotator: match by term: Thanatophoric dwarfism OMIM:187600 | OMIM:187601 | OMIM:273680 DNA:missense mutation:exon:p.S365C (mouse) protein:increased expression:necleus,chondrocyte: CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 PMID:9677066 PMID:9790257 PMID:10053006 PMID:10471491 PMID:11055896 PMID:11241532 PMID:11429702 PMID:12009017 PMID:12624096 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:19088846 PMID:19381019 PMID:19855393 PMID:20301540 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:23972473 PMID:24075385 PMID:24863959 PMID:25157968 PMID:25614871 PMID:25741868 PMID:28492532 PMID:31994750 PMID:33942288 PMID:34930662 PMID:10073901 PMID:11181569 PMID:9302269 More...
RGD:2289863 , RGD:12910972 , RGD:11568030
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Hspg2
heparan sulfate proteoglycan 2
ISS
OMIM:187600 | OMIM:187601 | OMIM:273680
MouseDO
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8599935 PMID:8673103 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9790257 PMID:9843049 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11429702 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12009017 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19331127 PMID:19381019 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20542753 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:22869148 PMID:23056398 PMID:23200862 PMID:23972473 PMID:24075385 PMID:24419316 PMID:24476948 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28249712 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8599935 PMID:8673103 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11429702 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23972473 PMID:24075385 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Cul7
cullin 7
ISO
ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition
OMIM ClinVar
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21383554 PMID:21396581 PMID:22325252 PMID:23018678 PMID:23900270 PMID:24793695 PMID:24793696 PMID:25741868 PMID:27182040 PMID:28492532 PMID:28969986 PMID:30980518 PMID:31343991 PMID:31589614 PMID:34006472 More...
NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: 3M syndrome 1
ClinVar
PMID:30980518
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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Brat1
BRCA1-associated ATM activator 1
ISO
ClinVar Annotator: match by term: Three M syndrome 2
ClinVar
PMID:16199547 PMID:19481195 PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:33040300 More...
NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 PMID:20164589 PMID:25741868 PMID:25923536 PMID:26627873 PMID:27796265 PMID:27959697 PMID:28492532 PMID:28969986 PMID:30980518 PMID:33135300 PMID:33726816 PMID:33919104 PMID:36999085 More...
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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Ccdc8
coiled-coil domain containing 8
ISO
ClinVar Annotator: match by term: 3M syndrome 3
OMIM ClinVar
PMID:21737058 PMID:25741868 PMID:28492532 PMID:28675896
NCBI chr 1:77,679,521...77,682,849
Ensembl chr 1:77,679,218...77,683,090
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Slc5a5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 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:21565787 PMID:25525159 PMID:25741868 PMID:28492532 PMID:32805706 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:17468186 PMID:17547680 PMID:18029453 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:27373559 PMID:27525530 PMID:27617131 PMID:28444304 PMID:28492532 PMID:29546359 PMID:29790453 PMID:30022773 PMID:30240412 PMID:31287502 PMID:31430255 PMID:32078117 PMID:32088313 PMID:32319661 PMID:32424871 PMID:32425884 PMID:32765423 PMID:33179747 PMID:33368191 PMID:34248839 PMID:34276565 PMID:34426522 PMID:34539567 PMID:34780050 PMID:35002963 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: 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
susceptibility
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
CTD OMIM 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:20410234 PMID:20447071 PMID:20981092 PMID:21128992 PMID:21372558 PMID:21900383 PMID:21958696 PMID:23164529 PMID:23455760 PMID:23457309 PMID:23457313 PMID:23535966 PMID:23933148 PMID:24033266 PMID:25741868 PMID:26595189 PMID:26742565 PMID:26777470 PMID:26813946 PMID:27373559 PMID:27498126 PMID:27525530 PMID:28444304 PMID:28492532 PMID:29590070 PMID:29720101 PMID:30022773 PMID:31042289 PMID:31287502 PMID:31867598 PMID:31980526 PMID:34248839 PMID:34456971 PMID:34484748 PMID:34780050 PMID:36012511 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
ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:34564849 PMID:34780050 PMID:36071330 PMID:36703223 More...
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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B4galt7
beta-1,4-galactosyltransferase 7
ISO
ClinVar Annotator: match by term: Lethal skeletal dysplasia
ClinVar
PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392 More...
NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse)
OMIM ClinVar CTD RGD
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:14729840 PMID:15266623 PMID:17078022 PMID:17347327 PMID:17726487 PMID:18272325 PMID:18276201 PMID:19344236 PMID:21442341 PMID:22791362 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26443184 PMID:26467025 PMID:26633542 PMID:28492532 PMID:35052477 PMID:21538020 More...
RGD:11667102
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:190611 PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 PMID:7607663 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:8069310 PMID:8317503 PMID:8385067 PMID:8544190 PMID:8834249 PMID:8845843 PMID:9042399 PMID:9385374 PMID:9463322 PMID:9654211 PMID:9691142 PMID:9783703 PMID:10076878 PMID:10090487 PMID:10336779 PMID:10494088 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10874316 PMID:10980545 PMID:11137998 PMID:11258625 PMID:11431704 PMID:12095621 PMID:12112660 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12807981 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15207265 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16479075 PMID:16513807 PMID:16528606 PMID:16542390 PMID:16544997 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16944272 PMID:17160901 PMID:17295913 PMID:17311297 PMID:17426081 PMID:17726231 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:18800150 PMID:19076627 PMID:19120036 PMID:19935827 PMID:20301288 PMID:20601955 PMID:20602485 PMID:20844836 PMID:21354044 PMID:21520333 PMID:21532985 PMID:22034633 PMID:22108604 PMID:22155606 PMID:22190595 PMID:22703879 PMID:22925204 PMID:22962301 PMID:22965773 PMID:23010473 PMID:23047742 PMID:23460398 PMID:23637863 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23781326 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24413922 PMID:24463508 PMID:24654934 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24803665 PMID:24922668 PMID:25074460 PMID:25324867 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25525159 PMID:25533962 PMID:25541118 PMID:25741868 PMID:25810463 PMID:25877891 PMID:25925892 PMID:25966637 PMID:26000329 PMID:26056819 PMID:26088551 PMID:26155992 PMID:26178382 PMID:26467025 PMID:26489445 PMID:26509978 PMID:26510091 PMID:26580448 PMID:26706011 PMID:26740943 PMID:26758488 PMID:26962827 PMID:26969325 PMID:27069254 PMID:27074763 PMID:27322474 PMID:27498913 PMID:27793025 PMID:27838393 PMID:28135719 PMID:28422438 PMID:28492532 PMID:28518168 PMID:28706617 PMID:28825729 PMID:28873162 PMID:28976792 PMID:29089047 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29522274 PMID:29872168 PMID:29908077 PMID:29914388 PMID:29926981 PMID:30111351 PMID:30190611 PMID:30287823 PMID:30290804 PMID:30291346 PMID:30308447 PMID:30530636 PMID:30632835 PMID:30877234 PMID:31159747 PMID:31160754 PMID:31308404 PMID:31347283 PMID:31370276 PMID:31422574 PMID:31533797 PMID:31595648 PMID:31730495 PMID:31766501 PMID:31776437 PMID:31891871 PMID:32461654 PMID:32566746 PMID:33046013 PMID:33322618 PMID:33471991 PMID:33540839 PMID:33562071 PMID:34418705 PMID:35885913 PMID:36988593 PMID:125305868 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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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
OMIM:277590 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Weaver syndrome
OMIM MouseDO CTD ClinVar
PMID:4366187 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22177091 PMID:22190405 PMID:23680131 PMID:24214728 PMID:24728327 PMID:25741868 PMID:26380986 PMID:26694085 PMID:28492532 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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Adamts10
ADAM metallopeptidase with thrombospondin type 1 motif, 10
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 DNA:SNP:cd: p.G661R (mouse) ClinVar Annotator: match by term: Weill-Marchesani syndrome
CTD MouseDO ClinVar RGD
PMID:19836009 PMID:25741868 PMID:28492532 PMID:34424262
RGD:243065144
NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
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Adamts17
ADAM metallopeptidase with thrombospondin type 1 motif, 17
ISS
OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819
MouseDO
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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Bicd2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Recessive
ClinVar
PMID:21208200 PMID:25741868 PMID:27751653 PMID:28635954
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Fbn1
fibrillin 1
ISO ISS
DNA:deletion ClinVar Annotator: match by term: Weill-Marchesani syndrome OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8988160 PMID:9150726 PMID:9338588 PMID:9399842 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10679954 PMID:10694921 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12525539 PMID:12938084 PMID:14695540 PMID:15598221 PMID:16061422 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:18435798 PMID:19012347 PMID:19059503 PMID:19161152 PMID:19293843 PMID:19370756 PMID:19396033 PMID:19839986 PMID:20200614 PMID:20301510 PMID:21883168 PMID:21895641 PMID:22772377 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:24033266 PMID:24055113 PMID:24311428 PMID:24564502 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27274304 PMID:27582083 PMID:27906200 PMID:27959697 PMID:28254189 PMID:28492532 PMID:28550590 PMID:28650953 PMID:28655553 PMID:29168297 PMID:29357934 PMID:29543232 PMID:29907982 PMID:30796334 PMID:31008308 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31950671 PMID:32123317 PMID:32679894 PMID:32938213 PMID:35531120 PMID:12525539 More...
RGD:1601144
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Weill-Marchesani syndrome
CTD ClinVar
PMID:9536098 PMID:17576681 PMID:19656777 PMID:22924778 PMID:23218701 PMID:23378721 PMID:23401661 PMID:25741868 PMID:26425313 PMID:27293371 PMID:28492532 More...
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Tnf
tumor necrosis factor
ISO
protein:increased expression:serum:
RGD
PMID:15223607
RGD:9150949
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Adamts10
ADAM metallopeptidase with thrombospondin type 1 motif, 10
ISO
ClinVar Annotator: match by term: Weill-Marchesani syndrome 1
OMIM ClinVar
PMID:15368195 PMID:18567016 PMID:19836009 PMID:25741868 PMID:28492532
NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
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Bicd2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Weill-Marchesani syndrome 1
ClinVar
PMID:21208200 PMID:25741868 PMID:27751653 PMID:28635954
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Weill-Marchesani syndrome 1
ClinVar
PMID:22539340
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
OMIM ClinVar
PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 PMID:2796200 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12525539 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17618372 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:26017485 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27959697 PMID:28050602 PMID:28054583 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30513137 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31605817 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33030311 PMID:33100332 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34150014 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34818515 PMID:34957211 PMID:36973604 More...
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) (human) ClinVar Annotator: match by term: Weill-Marchesani syndrome 3
OMIM ClinVar RGD
PMID:22539340 PMID:23401661 PMID:25741868 PMID:28492532 PMID:22539340
RGD:243049250
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Adamts17
ADAM metallopeptidase with thrombospondin type 1 motif, 17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADAMTS17-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:19836009 PMID:22486325 PMID:24940034 PMID:25741868 PMID:28492532 PMID:31848748 PMID:32616716 More...
NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition DNA:deletion:cds:c.2189delA (human) DNA:nonsense mutation:cds:p.W447X (human) DNA:mutations:multiple (human) DNA:insertion:cds:c.2121_2122insG (human)
OMIM ClinVar RGD
PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:28492532 PMID:29276006 PMID:16353258 PMID:23211637 PMID:20082460 PMID:7954831 More...
RGD:11554031 , RGD:11554030 , RGD:11554029 , RGD:11554024
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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Tsr2
TSR2, ribosome maturation factor
ISO
ClinVar Annotator: match by term: FGD1-related condition
ClinVar
PMID:25741868
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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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
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISS
OMIM:610965
MouseDO
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: XFE progeroid syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8797827 PMID:9579555 PMID:15886521 PMID:17183314 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:31692161 PMID:32008151 PMID:32659497 PMID:32756499 More...
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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Wls
Wnt ligand secretion mediator
ISO ISS
ClinVar Annotator: match by term: Zaki syndrome OMIM:619648
ClinVar MouseDO OMIM
PMID:25741868 PMID:34587386
NCBI chr 2:248,931,885...249,047,248
Ensembl chr 2:248,931,903...249,048,298
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21155
disease of anatomical entity
18219
endocrine system disease
6738
Dwarfism
841
3-M syndrome +
4
AMED syndrome
2
Aarskog syndrome +
2
Abuse Dwarfism Syndrome
0
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
0
Alopecia Contractures Dwarfism Mental Retardation
0
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
0
Astley-Kendall Syndrome
0
Asymmetric Short Stature Syndrome
0
Atelosteogenesis Type 3
1
Bangstad Syndrome
0
Bird Headed Dwarfism Montreal Type
0
Boomerang dysplasia
1
Brachydactylous Dwarfism Mseleni Type
0
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
0
Brunoni Syndrome
0
Bullous Dystrophy, Hereditary Macular Type
0
Cantu Sanchez-Corona Fragoso Syndrome
0
Chondrodysplasia Calcificans Metaphysealis
0
Cockayne syndrome +
15
De Sanctis-Cacchione syndrome
1
Desbuquois dysplasia +
8
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
1
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
0
Dwarfism Stiff Joint Ocular Abnormalities
0
Dwarfism with Tall Vertebrae
0
Dwarfism, Levi Type
0
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
0
Dyggve-Melchior-Clausen disease +
2
Dyssegmental Dysplasia with Glaucoma
0
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
1
Familial Dwarfism with Muscle Spasms
0
Familial Synovial Chondromatosis with Dwarfism
0
GARG-MISHRA PROGEROID SYNDROME
1
Growth Hormone Insensitivity with Immune Dysregulation +
4
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
2
Hadziselimovic Syndrome
0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
1
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
0
JOINT LAXITY, SHORT STATURE, AND MYOPIA
1
Juberg Hayward Syndrome
10
Kenny-Caffey syndrome type 2
2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
0
Kniest dysplasia
1
Laplane Fontaine Lagardere Syndrome
0
Laron syndrome
2
Lessel-Kubisch Syndrome
1
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
0
Mesomelic Dwarfism Reinhardt Pfeiffer Type
0
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
0
Metatropic Dwarfism, Type II
0
Microcephalic Osteodysplastic Primordial Dwarfism +
2
Microcephalic Primordial Dwarfism Toriello Type
0
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
2
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
1
Mollica Pavone Antener Syndrome
0
Mosaic Variegated Aneuploidy Syndrome 6
1
Nievergelt Syndrome
0
Oculopalatocerebral Syndrome
0
Oliver-McFarlane syndrome
1
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
1
Proportionate Dwarfism with Hip Dislocation
0
Pseudodiastrophic Dysplasia
0
Robinow syndrome +
9
Rommen Mueller Sybert Syndrome
0
Ruvalcaba Syndrome
0
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
2
SHORT STATURE, DAUBER-ARGENTE TYPE
1
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
2
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
1
SHORT STATURE-MICROGNATHIA SYNDROME
1
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
1
Seckel Like Syndrome Type Buebel
0
Seckel Syndrome 3
0
Seckel syndrome 1
4
Seckel syndrome 2
2
Seckel syndrome 4
2
Short Limb Dwarfism Al Gazali Type
1
Short Stature and Facioauriculothoracic Malformations
0
Short Stature and Microcephaly with Genital Anomalies
1
Short Stature with Nonspecific Skeletal Abnormalities
2
Short Stature, Developmental Delay, and Congenital Heart Defects
1
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
2
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
0
Short Stature-Obesity Syndrome
0
Silver-Russell syndrome +
9
Silverman-Handmaker type dyssegmental dysplasia
2
Singh Chhaparwal Dhanda Syndrome
0
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
0
Tessadori-van Haaften Neurodevelopmental Syndrome 1
1
Thoraco Limb Dysplasia Rivera Type
0
Thoracomelic Dysplasia
0
Tryptophanuria with Dwarfism
0
Watson syndrome
1
Weill-Marchesani syndrome +
6
Zaki syndrome
1
achondroplasia +
56
acromesomelic dysplasia +
90
anauxetic dysplasia +
56
congenital hypothyroidism +
232
diastrophic dysplasia +
1
diphthamide deficiency syndrome +
4
fibrochondrogenesis +
2
geroderma osteodysplasticum
1
hypochondroplasia
1
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
1
intellectual developmental disorder with short stature and behavioral abnormalities
1
isolated growth hormone deficiency +
54
metatropic dysplasia
1
mulibrey nanism
7
otospondylomegaepiphyseal dysplasia, autosomal recessive
2
parastremmatic dwarfism
1
rapadilino syndrome
1
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
1
spondylometaepiphyseal dysplasia, short limb-hand type
1
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
1
Path 2
disease
21155
disease of anatomical entity
18219
Skin and Connective Tissue Diseases
7407
connective tissue disease
5735
bone disease
4245
bone development disease
2281
Dwarfism
841
3-M syndrome +
4
AMED syndrome
2
Aarskog syndrome +
2
Abuse Dwarfism Syndrome
0
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
0
Alopecia Contractures Dwarfism Mental Retardation
0
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
0
Astley-Kendall Syndrome
0
Asymmetric Short Stature Syndrome
0
Atelosteogenesis Type 3
1
Bangstad Syndrome
0
Bird Headed Dwarfism Montreal Type
0
Boomerang dysplasia
1
Brachydactylous Dwarfism Mseleni Type
0
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
0
Brunoni Syndrome
0
Bullous Dystrophy, Hereditary Macular Type
0
Cantu Sanchez-Corona Fragoso Syndrome
0
Chondrodysplasia Calcificans Metaphysealis
0
Cockayne syndrome +
15
De Sanctis-Cacchione syndrome
1
Desbuquois dysplasia +
8
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
1
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
0
Dwarfism Stiff Joint Ocular Abnormalities
0
Dwarfism with Tall Vertebrae
0
Dwarfism, Levi Type
0
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
0
Dyggve-Melchior-Clausen disease +
2
Dyssegmental Dysplasia with Glaucoma
0
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
1
Familial Dwarfism with Muscle Spasms
0
Familial Synovial Chondromatosis with Dwarfism
0
GARG-MISHRA PROGEROID SYNDROME
1
Growth Hormone Insensitivity with Immune Dysregulation +
4
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
2
Hadziselimovic Syndrome
0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
1
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
0
JOINT LAXITY, SHORT STATURE, AND MYOPIA
1
Juberg Hayward Syndrome
10
Kenny-Caffey syndrome type 2
2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
0
Kniest dysplasia
1
Laplane Fontaine Lagardere Syndrome
0
Laron syndrome
2
Lessel-Kubisch Syndrome
1
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
0
Mesomelic Dwarfism Reinhardt Pfeiffer Type
0
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
0
Metatropic Dwarfism, Type II
0
Microcephalic Osteodysplastic Primordial Dwarfism +
2
Microcephalic Primordial Dwarfism Toriello Type
0
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
2
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
1
Mollica Pavone Antener Syndrome
0
Mosaic Variegated Aneuploidy Syndrome 6
1
Nievergelt Syndrome
0
Oculopalatocerebral Syndrome
0
Oliver-McFarlane syndrome
1
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
1
Proportionate Dwarfism with Hip Dislocation
0
Pseudodiastrophic Dysplasia
0
Robinow syndrome +
9
Rommen Mueller Sybert Syndrome
0
Ruvalcaba Syndrome
0
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
2
SHORT STATURE, DAUBER-ARGENTE TYPE
1
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
2
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
1
SHORT STATURE-MICROGNATHIA SYNDROME
1
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
1
Seckel Like Syndrome Type Buebel
0
Seckel Syndrome 3
0
Seckel syndrome 1
4
Seckel syndrome 2
2
Seckel syndrome 4
2
Short Limb Dwarfism Al Gazali Type
1
Short Stature and Facioauriculothoracic Malformations
0
Short Stature and Microcephaly with Genital Anomalies
1
Short Stature with Nonspecific Skeletal Abnormalities
2
Short Stature, Developmental Delay, and Congenital Heart Defects
1
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
2
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
0
Short Stature-Obesity Syndrome
0
Silver-Russell syndrome +
9
Silverman-Handmaker type dyssegmental dysplasia
2
Singh Chhaparwal Dhanda Syndrome
0
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
0
Tessadori-van Haaften Neurodevelopmental Syndrome 1
1
Thoraco Limb Dysplasia Rivera Type
0
Thoracomelic Dysplasia
0
Tryptophanuria with Dwarfism
0
Watson syndrome
1
Weill-Marchesani syndrome +
6
Zaki syndrome
1
achondroplasia +
56
acromesomelic dysplasia +
90
anauxetic dysplasia +
56
congenital hypothyroidism +
232
diastrophic dysplasia +
1
diphthamide deficiency syndrome +
4
fibrochondrogenesis +
2
geroderma osteodysplasticum
1
hypochondroplasia
1
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
1
intellectual developmental disorder with short stature and behavioral abnormalities
1
isolated growth hormone deficiency +
54
metatropic dysplasia
1
mulibrey nanism
7
otospondylomegaepiphyseal dysplasia, autosomal recessive
2
parastremmatic dwarfism
1
rapadilino syndrome
1
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
1
spondylometaepiphyseal dysplasia, short limb-hand type
1
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
1