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: prolapse of female genital organ
Accession: DOID:1284
browse the term
Definition: A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. (DO)
Synonyms: xref: ICD9CM:618.8
For additional species annotation, visit the
Alliance of Genome Resources .
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PLS3
plastin 3
ISO
ClinVar Annotator: match by term: Hernia, anterior diaphragmatic
OMIM ClinVar
PMID:25741868 PMID:37751738
NCBI chr X:88,308,817...88,399,682
Ensembl chr X:88,308,888...88,398,810
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ALPK1
alpha kinase 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,135,110...32,270,732
Ensembl chr32:32,136,738...32,267,264
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ANK2
ankyrin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
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AP1AR
adaptor related protein complex 1 associated regulatory protein
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,083,077...32,123,857
Ensembl chr32:32,083,105...32,122,200
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FAM241A
family with sequence similarity 241 member A
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:31,990,486...32,034,616
Ensembl chr32:31,990,621...32,029,631
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FOXC1
forkhead box C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14630904
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HMGN2
high mobility group nucleosomal binding domain 2
ISO
OMIM:180500
MouseDO
NCBI chr 2:73,579,042...73,582,786
Ensembl chr 2:73,579,042...73,610,696
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LARP7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
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MIR302A
microRNA mir-302a
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,429,209...32,429,277
Ensembl chr32:32,429,209...32,429,277
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MIR302B
microRNA mir-302b
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574
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MIR302C
microRNA mir-302c
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,429,366...32,429,433
Ensembl chr32:32,429,366...32,429,433
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MIR302D
microRNA mir-302d
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101
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MIR367
microRNA mir-367
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972
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NEUROG2
neurogenin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,310,939...32,313,492
Ensembl chr32:32,312,097...32,312,915
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PAX6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14630904
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PITX2
paired like homeodomain 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM ClinVar
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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PRDM5
PR/SET domain 5
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:26489929
NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
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TIFA
TRAF interacting protein with forkhead associated domain
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,125,870...32,135,159
Ensembl chr32:32,126,634...32,127,191
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ZGRF1
zinc finger GRF-type containing 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441
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CASQ2
calsequestrin 2
ISO
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
ClinVar
PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532
NCBI chr17:53,233,966...53,299,093
Ensembl chr17:53,224,438...53,299,708
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CDX2
caudal type homeobox 2
ISO
ClinVar Annotator: match by term: Sirenomelia
ClinVar
PMID:25741868
NCBI chr25:11,701,134...11,707,883
Ensembl chr25:11,700,779...11,707,127
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PCSK5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145
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RYR1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Agenesis of sacrum
ClinVar
PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:16084090 PMID:16835904 PMID:16917943 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25558065 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 More...
NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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VANGL1
VANGL planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
ClinVar OMIM
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 PMID:24452931 PMID:24838524 PMID:25068569 PMID:25208524 PMID:25741868 PMID:26196381 PMID:28492532 More...
NCBI chr17:53,174,080...53,227,616
Ensembl chr17:53,174,127...53,220,765
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ZBTB16
zinc finger and BTB domain containing 16
ISO
RGD
PMID:27727328
RGD:40924666
NCBI chr 5:19,082,594...19,284,360
Ensembl chr 5:19,087,154...19,267,628
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ACE
angiotensin I converting enzyme
ISO
protein:increased activity:lung (rat)
RGD
PMID:9498404
RGD:12859277
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:22113494
RGD:6903875
NCBI chr X:88,703,551...88,708,451
Ensembl chr X:88,705,765...88,706,853
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ATP7A
ATPase copper transporting alpha
ISO
mRNA, protein:decreased expression:diaphragm (rat)
RGD
PMID:25319798
RGD:11341670
NCBI chr X:60,203,336...60,356,525
Ensembl chr X:60,203,270...60,352,869
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BAP1
BRCA1 associated protein 1
ISO
ClinVar Annotator: match by term: Unilateral agenesis of diaphragm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
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BMP4
bone morphogenetic protein 4
ISO
mRNA:decreased expression:heart:
RGD
PMID:18280291
RGD:9068407
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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CBL
Cbl proto-oncogene
ISO
mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium:
RGD
PMID:23143077
RGD:11038813
NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
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CCL2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30418988
NCBI chr 9:39,008,187...39,009,932
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CCN2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20939759 PMID:21258935
NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
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DES
desmin
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
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ELN
elastin
ISO
mRNA,protein:increased expression:lung:
RGD
PMID:12194112
RGD:9585688
NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
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EPO
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27880037
NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
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FBN1
fibrillin 1
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:23806086 PMID:24088041 PMID:25736269
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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FGFRL1
fibroblast growth factor receptor like 1
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:25741868 PMID:28492532 PMID:33443296
NCBI chr 3:91,499,088...91,508,982
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FOXC2
forkhead box C2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
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FOXF1
forkhead box F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27663689
NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
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FRAS1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
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FREM1
FRAS1 related extracellular matrix 1
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:28492532
NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
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FREM2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:25741868 PMID:28492532 PMID:30143558
NCBI chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456
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GATA4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187
CTD MouseDO
PMID:23426975
NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989
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GATA6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH
ClinVar
PMID:22158542 PMID:24385578 PMID:25741868
NCBI chr 7:65,932,114...65,962,574
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GLI3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
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HTR2A
5-hydroxytryptamine receptor 2A
ISO
mRNA, protein:increased expression:lung
RGD
PMID:24888825
RGD:401901089
NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037
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IGF1
insulin like growth factor 1
ISO
mRNA:decreased expression:heart (rat)
RGD
PMID:11409163
RGD:12904929
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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IGF1R
insulin like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620343 PMID:21433279
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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IGF2
insulin like growth factor 2
treatment
ISO
RGD
PMID:24352370
RGD:10402563
NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
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IGF2R
insulin like growth factor 2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20620343 PMID:21433279
NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
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IGFBP3
insulin like growth factor binding protein 3
ISO
RGD
PMID:19844724
RGD:10402761
NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
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IGFBP5
insulin like growth factor binding protein 5
ISO
RGD
PMID:19844724
RGD:10402761
NCBI chr37:23,575,265...23,596,970
Ensembl chr37:23,579,841...23,596,870
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INSR
insulin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21433279
NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
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KCNQ5
potassium voltage-gated channel subfamily Q member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28189443
NCBI chr12:34,872,514...35,364,794
Ensembl chr12:34,872,581...35,362,349
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KIF7
kinesin family member 7
ISO
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; OMIM:142340 | OMIM:222400 | OMIM:610187
RGD MouseDO
PMID:25921351
RGD:11553839
NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
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LCN2
lipocalin 2
ISO
protein:decreased expression:amniotic fluid mRNA:decreased expression:lung
RGD
PMID:27592368
RGD:126790533
NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
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LOC610540
pulmonary surfactant-associated protein A-like
treatment
ISO
RGD
PMID:11051153
RGD:151667435
NCBI chr 4:29,430,139...29,434,640
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LRP1
LDL receptor related protein 1
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
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LZTR1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:28492532 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 More...
NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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MN1
MN1 proto-oncogene, transcriptional regulator
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:25741868 PMID:31834374
NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031
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MYH7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 PMID:22260945 PMID:23549607 PMID:23690394 PMID:24033266 PMID:25125180 PMID:25524337 PMID:25611685 PMID:25741868 PMID:25935763 PMID:27247418 PMID:27532257 PMID:27600940 PMID:28067235 PMID:28492532 PMID:28606303 PMID:30105547 PMID:30745532 PMID:32013205 More...
NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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MYOD1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258934
NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
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MYRF
myelin regulatory factor
ISO
DNA:mutations:multiple:
RGD
PMID:30532227
RGD:200226345
NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
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NDST1
N-deacetylase and N-sulfotransferase 1
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr 4:58,580,231...58,639,750
Ensembl chr 4:58,532,148...58,640,191
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NOS3
nitric oxide synthase 3
ISO
protein:decreased expression:pulmonary artery (rat)
RGD
PMID:29216632
RGD:13504720
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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NR2F2
nuclear receptor subfamily 2 group F member 2
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr 3:44,135,143...44,148,836
Ensembl chr 3:44,136,463...44,148,524
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PAX3
paired box 3
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29407415 More...
NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
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PDGFRA
platelet derived growth factor receptor alpha
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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PGAP3
post-GPI attachment to proteins phospholipase 3
ISO
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
ClinVar
PMID:25741868 PMID:30345601
NCBI chr 9:22,793,854...22,806,321
Ensembl chr 9:22,793,792...22,806,321
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PIM1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25812446
NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933
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PLS3
plastin 3
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
PMID:25741868 PMID:37751738
NCBI chr X:88,308,817...88,399,682
Ensembl chr X:88,308,888...88,398,810
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RHOA
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25783350
NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
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ROBO4
roundabout guidance receptor 4
ISO
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
ClinVar
NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702
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SFTPB
surfactant protein B
treatment
ISO
RGD
PMID:11051153
RGD:151667435
NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229
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SLC6A4
solute carrier family 6 member 4
ISO
protein:increased expression:lung
RGD
PMID:24888825
RGD:401901089
NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
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SLIT2
slit guidance ligand 2
ISO
mRNA:increased expression:lung
RGD
PMID:19944214
RGD:243048459
NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955
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SLIT3
slit guidance ligand 3
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187 mRNA:increased expression:lung
MouseDO RGD
PMID:19944214
RGD:243048459
NCBI chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714
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SOD1
superoxide dismutase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:26534761
RGD:11035301
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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SOD2
superoxide dismutase 2
ISO
mRNA:decreased expression:lung
RGD
PMID:26534761
RGD:11035301
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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SOX7
SRY-box transcription factor 7
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr25:27,216,111...27,222,142
Ensembl chr25:27,215,528...27,220,227
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25812446
NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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TNF
tumor necrosis factor
ISO
RGD
PMID:10541330
RGD:12904053
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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VEGFA
vascular endothelial growth factor A
ISO
protein:decreased expression:lung:
RGD
PMID:15879288
RGD:7421593
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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WNT11
Wnt family member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25783350
NCBI chr21:22,442,496...22,463,040
Ensembl chr21:22,446,051...22,463,173
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WT1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187
CTD MouseDO
PMID:21072664
NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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ZC3H7B
zinc finger CCCH-type containing 7B
ISO
mRNA:decreased expression:lung
RGD
PMID:24488106
RGD:9588310
NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131
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ZFPM2
zinc finger protein, FOG family member 2
ISO
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO
NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
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AGT
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292651
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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AQP5
aquaporin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17245593 PMID:17270560
NCBI chr27:4,735,313...4,742,975
Ensembl chr27:4,735,538...4,737,650
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B9D2
B9 domain containing 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:lung
CTD RGD
PMID:10646786 PMID:19635314
RGD:4145129
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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BMP4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18280291
NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
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CFTR
CF transmembrane conductance regulator
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16473863
NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
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EDN1
endothelin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9473106 PMID:10693666
NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
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EDNRA
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9473106 PMID:10693666
NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463
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EDNRB
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10693666
NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
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ELN
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10359170
NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
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FGF18
fibroblast growth factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17303798
NCBI chr 4:40,714,891...40,748,892
Ensembl chr 4:40,715,060...40,748,518
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FGF2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10646786
NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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FOXA2
forkhead box A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16863852
NCBI chr24:1,010,370...1,013,791
Ensembl chr24:1,010,651...1,013,072
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GATA4
GATA binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18280291
NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989
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GATA6
GATA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18280291
NCBI chr 7:65,932,114...65,962,574
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GJA1
gap junction protein alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16292552 PMID:16720372
NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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HOXA5
homeobox A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18351244
NCBI chr14:40,315,409...40,319,001
Ensembl chr14:40,315,639...40,317,768
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HOXB3
homeobox B3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18351244
NCBI chr 9:24,810,299...24,837,434
Ensembl chr 9:24,809,739...24,836,058
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ICAM1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12759764 PMID:17245593
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IGF1
insulin like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10370016
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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IGF2
insulin like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10370016
NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500730
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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KCNA2
potassium voltage-gated channel subfamily A member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15088113
NCBI chr 6:41,405,453...41,415,727
Ensembl chr 6:41,407,070...41,408,823
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KCNB1
potassium voltage-gated channel subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15088113
NCBI chr24:36,016,800...36,118,873
Ensembl chr24:36,025,472...36,117,934
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KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15088113
NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
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LRP2
LDL receptor related protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632512
NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
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MYOD1
myogenic differentiation 1
ISO
mRNA:decreased expression:diaphragm
RGD
PMID:21258934
RGD:9686080
NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
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NKX2-1
NK2 homeobox 1
ISO
mRNA, protein:increased expression:lung CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10830305 PMID:16863852 PMID:17245593
RGD:1600158
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NOS3
nitric oxide synthase 3
ISO
mRNA, protein:decreased expression:lung CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7576705 PMID:8863223
RGD:5132862
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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NPPA
natriuretic peptide A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11584395
NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385
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NR2F2
nuclear receptor subfamily 2 group F member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr 3:44,135,143...44,148,836
Ensembl chr 3:44,136,463...44,148,524
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PAX3
paired box 3
ISO
mRNA:decreased expression:heart (rat)
RGD
PMID:15616818
RGD:1580942
NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
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RXRA
retinoid X receptor alpha
ISO
mRNA:increased expression:lung
RGD
PMID:17270546
RGD:1643107
NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119
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SFTPB
surfactant protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10830305 PMID:16863852
NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229
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SFTPC
surfactant protein C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10751355
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
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SLIT3
slit guidance ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714
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STRA6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr30:37,331,834...37,359,449
Ensembl chr30:37,331,832...37,353,529
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THRA
thyroid hormone receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11685700
NCBI chr 9:22,469,466...22,493,445
Ensembl chr 9:22,468,594...22,493,445
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THRB
thyroid hormone receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11685700
NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10541330
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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UCHL1
ubiquitin C-terminal hydrolase L1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18958481
NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350
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VCAM1
vascular cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12759764
NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
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WT1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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ZFPM2
zinc finger protein, FOG family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17436238
NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
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ZFPM2
zinc finger protein, FOG family member 2
ISO
ClinVar Annotator: match by term: Diaphragmatic hernia 3
OMIM ClinVar
PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25741868 PMID:28492532 More...
NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322
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ALDH1A2
aldehyde dehydrogenase 1 family member A2
ISO
ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects
OMIM ClinVar
PMID:33565183
NCBI chr30:23,074,432...23,170,374
Ensembl chr30:23,074,432...23,340,030
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LMBRD1
LMBR1 domain containing 1
ISO
ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar
PMID:19136951 PMID:25741868 PMID:28492532
NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578
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LRP2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
OMIM ClinVar
PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:23048173 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25682901 PMID:25741868 PMID:26118977 PMID:26284228 PMID:26350204 PMID:26529358 PMID:28492532 PMID:28539120 PMID:29992659 PMID:30167849 PMID:32238909 PMID:33103447 PMID:33461977 PMID:34979047 PMID:38177409 More...
NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
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CC2D2A
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:19777577 PMID:25741868 PMID:26862157 PMID:28492532 PMID:31680349
NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
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CEP290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele
ClinVar
PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 PMID:20683928 PMID:20690115 PMID:21866095 PMID:23847139 PMID:25525159 PMID:25741868 PMID:26092869 PMID:27894351 PMID:28492532 PMID:28497568 PMID:29398085 PMID:31680349 PMID:31734136 More...
NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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DNAI3
dynein axonemal intermediate chain 3
ISO
ClinVar Annotator: match by term: Occipital encephalocele
ClinVar
PMID:29285825
NCBI chr 6:62,832,281...62,914,239
Ensembl chr 6:62,844,626...62,914,196
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PIBF1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Cephalocele
ClinVar
PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318
NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308
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RPGRIP1L
RPGRIP1 like
ISO
associated with Meckel Syndrome, Type 5;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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SZT2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349
NCBI chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325
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ALDH18A1
aldehyde dehydrogenase 18 family member A1
ISO
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
RGD
PMID:26320891
RGD:13434923
NCBI chr28:9,101,578...9,148,063
Ensembl chr28:9,102,282...9,147,992
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EFEMP1
EGF containing fibulin extracellular matrix protein 1
ISO
RGD
PMID:17872905
RGD:10401789
NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
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GON7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:31481669
NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414
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LAGE3
L antigen family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr X:122,185,300...122,186,498
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OSGEP
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828
NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173
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TP53RK
TP53 regulating kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446
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TPRKB
TP53RK binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767
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WDR4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:30079490
NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788
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WDR73
WD repeat domain 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25466283
NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034
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ZNF592
zinc finger protein 592
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20531441
NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486
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ENG
endoglin
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
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WDR73
WD repeat domain 73
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition
OMIM ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:27001912 PMID:28492532 PMID:29127259 PMID:30315938 PMID:31130284 More...
NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034
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ZNF592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727
NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486
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C15H1orf122
chromosome 15 C1orf122 homolog
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
ClinVar
PMID:31481669
NCBI chr15:4,723,244...4,724,512
Ensembl chr15:4,723,616...4,724,386
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YRDC
yrdC N6-threonylcarbamoyltransferase domain containing
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
OMIM ClinVar
PMID:31481669 PMID:34545459
NCBI chr15:4,724,468...4,728,659
Ensembl chr15:4,723,716...4,728,000
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LAGE3
L antigen family member 3
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked
OMIM ClinVar
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828
NCBI chr X:122,185,300...122,186,498
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OSGEP
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
OMIM ClinVar
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 PMID:29127259 PMID:30141175 PMID:31564459 PMID:33333793 PMID:33532864 PMID:36856752 More...
NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173
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TP53RK
TP53 regulating kinase
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362
NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446
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TPRKB
TP53RK binding protein
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259
NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767
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WDR4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 6
OMIM ClinVar
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 PMID:30079490 More...
NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788
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NUP107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 7
OMIM ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 PMID:30179222 More...
NCBI chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197
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NUP133
nucleoporin 133
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8
OMIM ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554
NCBI chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033
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GON7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 9
OMIM ClinVar
PMID:25741868 PMID:31481669
NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414
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ADD1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:17051589
RGD:5148000
NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830
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IGF1R
insulin like growth factor 1 receptor
ISO
protein:increased expression:liver, intestine (rat)
RGD
PMID:23381816
RGD:12904922
NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
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KIT
KIT proto-oncogene, receptor tyrosine kinase
severity
ISO
protein:decreased expression:intestine:
RGD
PMID:15486901
RGD:12910745
NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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LRP1
LDL receptor related protein 1
ISO
OMIM:230750
MouseDO
NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:intestine (rat)
RGD
PMID:21960425
RGD:5508749
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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BARX1
BARX homeobox 1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:98,036,444...98,039,818
Ensembl chr 1:98,036,227...98,039,845
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FAM120A
family with sequence similarity 120 member A
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:98,264,680...98,336,761
Ensembl chr 1:98,265,855...98,353,296
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FBP1
fructose-bisphosphatase 1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224
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FBP2
fructose-bisphosphatase 2
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:72,136,072...72,168,487
Ensembl chr 1:72,136,106...72,184,795
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MFSD14B
major facilitator superfamily domain containing 14B
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:99,201,206...99,271,351
Ensembl chr 1:99,203,170...99,271,067
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MIRLET7D
microRNA let-7d
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:97,902,012...97,902,136
Ensembl chr 1:97,902,012...97,902,136
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MIRLET7F
microRNA let-7f
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:97,903,931...97,904,008
Ensembl chr 1:97,903,919...97,904,028
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PHF2
PHD finger protein 2
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:98,188,014...98,253,930
Ensembl chr 1:98,188,826...98,254,411
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PTPDC1
protein tyrosine phosphatase domain containing 1
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:97,942,905...98,002,025
Ensembl chr 1:97,944,325...98,002,074
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ZNF169
zinc finger protein 169
ISO
ClinVar Annotator: match by term: Hiatus hernia
ClinVar
NCBI chr 1:97,811,128...97,854,011
Ensembl chr 1:97,811,274...97,853,966
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ACTL6A
actin like 6A
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962
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COL5A1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868
NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
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ELN
elastin
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
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IRAK1
interleukin 1 receptor associated kinase 1
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:25741868
NCBI chr X:121,853,340...121,862,582
Ensembl chr X:121,819,432...121,862,576
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Inguinal hernia
ClinVar
PMID:10712197 PMID:23656349 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
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TGFBR2
transforming growth factor beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16885183
NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
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ADAMTS18
ADAM metallopeptidase with thrombospondin type 1 motif 18
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:21862674 PMID:23667181 PMID:28492532
NCBI chr 5:73,769,462...73,907,024
Ensembl chr 5:73,772,114...73,905,264
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COL18A1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17546652 PMID:17576681 PMID:17975799 PMID:19160445 PMID:19390655 PMID:20799329 PMID:20979194 PMID:21862674 PMID:21937992 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:30007336 PMID:31415705 PMID:32581362 PMID:32860008 PMID:34828430 More...
NCBI chr31:38,915,872...38,957,484
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PAK2
p21 (RAC1) activated kinase 2
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:9677068 PMID:14695535 PMID:33693784
NCBI chr33:29,774,645...29,863,661
Ensembl chr33:29,774,593...29,987,478
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SLC19A1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 PMID:17576681 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32860008 PMID:34828430 More...
NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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COL18A1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1
OMIM ClinVar
PMID:9536098 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17576681 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23040494 PMID:23667181 PMID:24507774 PMID:25024173 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:31415705 PMID:34828430 More...
NCBI chr31:38,915,872...38,957,484
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SLC19A1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1
ClinVar
PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:34828430 More...
NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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PAK2
p21 (RAC1) activated kinase 2
ISO
ClinVar Annotator: match by term: Knobloch syndrome 2
OMIM ClinVar
PMID:25741868
NCBI chr33:29,774,645...29,863,661
Ensembl chr33:29,774,593...29,987,478
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NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: Lateral meningocele syndrome | ClinVar Annotator: match by term: Lehman syndrome
OMIM ClinVar
PMID:3484396 PMID:8878478 PMID:9188658 PMID:9388399 PMID:11102981 PMID:11755616 PMID:11757773 PMID:12482954 PMID:12754354 PMID:15229130 PMID:15364702 PMID:15666314 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16580020 PMID:17122431 PMID:17390743 PMID:18948701 PMID:19006080 PMID:19174371 PMID:19359623 PMID:19542611 PMID:19576955 PMID:20071773 PMID:20935329 PMID:21337686 PMID:21737310 PMID:21940951 PMID:22006983 PMID:22153900 PMID:22218279 PMID:22373597 PMID:22795385 PMID:23584202 PMID:23696373 PMID:23844775 PMID:24033266 PMID:24086431 PMID:24425116 PMID:24886907 PMID:25260786 PMID:25344745 PMID:25394726 PMID:25412914 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25929831 PMID:25980907 PMID:26467025 PMID:26646783 PMID:26754023 PMID:26806700 PMID:27350778 PMID:27844030 PMID:27881154 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28710804 PMID:28991717 PMID:30311053 PMID:30956055 PMID:31418856 PMID:32172663 PMID:32277177 PMID:32555735 PMID:32581362 PMID:32765252 PMID:34335700 PMID:35754959 More...
NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
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B9D1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:40,854,110...40,866,828
Ensembl chr 5:40,854,127...40,866,824
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CC2D2A
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar
PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23351400 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:34194672 More...
NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
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CEP290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:36909829 More...
NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:28492532
NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059
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LOC119872052
U8 small nucleolar RNA
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1
ClinVar
PMID:25741868 PMID:27571260
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MKS1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35587316 More...
NCBI chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338
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NPHP3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805
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RLIG1
RNA 5'-phosphate and 3'-OH ligase 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
NCBI chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861
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RPGRIP1L
RPGRIP1 like
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 More...
NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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TCTN1
tectonic family member 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532
NCBI chr26:8,411,429...8,444,640
Ensembl chr26:8,407,105...8,437,027
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TCTN2
tectonic family member 2
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr26:5,954,302...5,979,853
Ensembl chr26:5,954,738...5,979,750
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TMEM107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr 5:32,991,000...32,993,319
Ensembl chr 5:32,991,021...32,993,248
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TMEM231
transmembrane protein 231
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25741914 PMID:25869670 PMID:28492532 More...
NCBI chr 5:75,246,043...75,266,705
Ensembl chr 5:75,246,043...75,265,021
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TMEM67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:34964473 More...
NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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KIF14
kinesin family member 14
ISO
ClinVar Annotator: match by term: Meckel syndrome 12
OMIM ClinVar
PMID:24128419 PMID:25741868 PMID:28492532
NCBI chr 7:2,548,407...2,602,371
Ensembl chr 7:2,548,258...2,601,581
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TMEM107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Meckel syndrome 13
OMIM ClinVar
PMID:25741868 PMID:25741914 PMID:26123494 PMID:26595381
NCBI chr 5:32,991,000...32,993,319
Ensembl chr 5:32,991,021...32,993,248
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TMEM216
transmembrane protein 216
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2
OMIM ClinVar
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 More...
NCBI chr18:54,988,893...55,018,601
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TMEM67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3
OMIM ClinVar
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22121117 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26546361 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29891882 PMID:29974258 PMID:30476936 PMID:31411728 PMID:32000717 PMID:34032358 PMID:34675960 More...
NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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CEP290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27894351 PMID:28041643 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31680349 PMID:31734136 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:35836572 PMID:36460718 PMID:37008293 More...
NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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RLIG1
RNA 5'-phosphate and 3'-OH ligase 1
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 More...
NCBI chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861
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TMEM218
transmembrane protein 218
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
PMID:25741868 PMID:33791682
NCBI chr 5:9,363,910...9,377,471
Ensembl chr 5:9,371,556...9,377,112
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RPGRIP1L
RPGRIP1 like
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 5
OMIM ClinVar
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 More...
NCBI chr 2:62,080,159...62,179,694
Ensembl chr 2:62,080,080...62,178,284
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CC2D2A
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 6
OMIM ClinVar
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22995991 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25741868 PMID:25741913 PMID:25741914 PMID:26003401 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29039169 PMID:29987673 PMID:30202406 PMID:31130284 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:34645488 More...
NCBI chr 3:64,731,165...64,867,743
Ensembl chr 3:64,731,171...64,867,547
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CEP290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709 More...
NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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TCTN2
tectonic family member 2
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar
PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 PMID:25741913 PMID:26729329 PMID:28492532 PMID:31428121 More...
NCBI chr26:5,954,302...5,979,853
Ensembl chr26:5,954,738...5,979,750
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ALX4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Cranium bifidum occultum
ClinVar
NCBI chr18:44,922,042...44,967,557
Ensembl chr18:44,922,150...44,967,550
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MSX2
msh homeobox 2
ISO
ClinVar Annotator: match by term: CRANIUM BIFIDUM, HEREDITARY | ClinVar Annotator: match by term: Cranium bifidum occultum | ClinVar Annotator: match by term: Enlarged parietal foramina | ClinVar Annotator: match by term: FORAMINA PARIETALIA PERMAGNA
ClinVar
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:10742103 PMID:10742104 PMID:10767351 PMID:14571277 PMID:16319823 PMID:18786927 PMID:20301307 PMID:22948472 PMID:23918290 PMID:23949913 PMID:24666290 PMID:25741868 PMID:27013732 PMID:27884935 PMID:28492532 More...
NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407
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MSX2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Parietal foramina 1
OMIM ClinVar
PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532
NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407
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ALX4
ALX homeobox 4
susceptibility
ISO
ClinVar Annotator: match by term: Parietal foramina 2
ClinVar OMIM
PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 PMID:25741868 PMID:28492532 More...
NCBI chr18:44,922,042...44,967,557
Ensembl chr18:44,922,150...44,967,550
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MSX2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
OMIM ClinVar
PMID:14571277
NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407
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MTOR
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome
OMIM ClinVar
PMID:21210909 PMID:23322780 PMID:23636326 PMID:24625776 PMID:24631838 PMID:25741868 PMID:25799227 PMID:25851998 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27279227 PMID:27482884 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28554332 PMID:28892148 PMID:29051493 PMID:29281825 PMID:31441589 PMID:31444548 PMID:32581362 PMID:33077954 PMID:34197453 More...
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Overgrowth syndrome
ClinVar
PMID:25741868
NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
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PIK3R2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Overgrowth syndrome
ClinVar
PMID:25741868
NCBI chr20:44,826,037...44,838,449
Ensembl chr20:44,826,339...44,836,558
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DLL3
delta like canonical Notch ligand 3
ISO
ClinVar Annotator: match by term: DLL3-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
OMIM ClinVar
PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 PMID:29459493 More...
NCBI chr 1:113,737,662...113,745,936
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MESP2
mesoderm posterior bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:52,757,581...52,759,987
Ensembl chr 3:52,756,836...52,760,004
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PLEKHG2
pleckstrin homology and RhoGEF domain containing G2
ISO
ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:113,800,620...113,811,478
Ensembl chr 1:113,800,305...113,810,683
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RIPPLY2
ripply transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Spondylothoracic Dysostosis
ClinVar
PMID:25343988 PMID:25741868 PMID:28492532
NCBI chr12:44,144,821...44,168,236
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ACTL6A
actin like 6A
ISO
ClinVar Annotator: match by term: Umbilical hernia
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22473653
NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399
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FGFR1
fibroblast growth factor receptor 1
ISO
RGD
PMID:21238647
RGD:11567270
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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FGFR2
fibroblast growth factor receptor 2
ISO
RGD
PMID:21238647
RGD:11567270
NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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PCSK5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145
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PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Umbilical hernia
ClinVar
PMID:25741868
NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562
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COL1A1
collagen type I alpha 1 chain
treatment
ISO
RGD
PMID:26578432
RGD:11041579
NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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COL3A1
collagen type III alpha 1 chain
treatment
ISO
RGD
PMID:26578432
RGD:11041579
NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765
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