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: Failure to Thrive
Accession: DOID:9001276
browse the term
Definition: A condition of substandard growth or diminished capacity to maintain normal function.
Synonyms: primary_id: MESH:D005183
G
Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28288113
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
G
Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
G
Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
G
Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:12787275 PMID:22266148 PMID:25741868 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
G
Ddx23
DEAD-box helicase 23
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:34050707
NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949
G
Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:24781755 PMID:25558065 PMID:25741868 PMID:25741916
NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
G
Epb41l4a
erythrocyte membrane protein band 4.1 like 4A
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25558065
NCBI chr18:25,405,461...25,615,392
Ensembl chr18:25,406,057...25,615,149
G
Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:28492532 PMID:33315086
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
G
Fig4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868
NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
G
Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32901917 PMID:32963807 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
G
Lipt1
lipoyltransferase 1
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:27247813 PMID:28492532
NCBI chr 9:40,107,938...40,118,268
Ensembl chr 9:40,098,615...40,113,565
G
Mcf2
MCF.2 cell line derived transforming sequence
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868
NCBI chr X:138,414,077...138,514,828
Ensembl chr X:138,409,256...138,514,446
G
Med25
mediator complex subunit 25
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
G
Mfn2
mitofusin 2
ISO
ClinVar Annotator: match by term: Failure to thrive
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
Mitd1
microtubule interacting and trafficking domain containing 1
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:27247813 PMID:28492532
NCBI chr 9:40,113,943...40,125,280
Ensembl chr 9:40,113,946...40,125,289
G
Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 PMID:15001945 PMID:15240615 PMID:15604238 PMID:15928039 PMID:15985475 PMID:16263833 PMID:16358218 PMID:17020470 PMID:19020799 PMID:19352411 PMID:21407260 PMID:21533187 PMID:22465605 PMID:22711529 PMID:24033266 PMID:24803665 PMID:24935154 PMID:25533962 PMID:25741868 PMID:26817465 PMID:28492532 PMID:29555671 PMID:29907801 PMID:31560489 PMID:32164556 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
G
Shh
sonic hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
G
Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
G
Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Failure to thrive
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
G
Tars2
threonyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868
NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
G
Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
G
Ttn
titin
ISO
ClinVar Annotator: match by term: Failure to thrive
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
G
Wnt2b
Wnt family member 2B
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:29909964
NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
G
Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:25741868 PMID:28492532 PMID:31926053
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
G
Zfp668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Failure to thrive
ClinVar
PMID:26633546 PMID:34313816
NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO ISS
DNA:mutations:cds:multiple(human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome DNA:mutation:cds:p.Q241R(mouse) CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12692057 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14678966 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16007634 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16772349 PMID:16804887 PMID:16825433 PMID:17366577 PMID:17374713 PMID:17437909 PMID:17483702 PMID:17488796 PMID:17496923 PMID:17551924 PMID:17603483 PMID:17703371 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18398503 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19416762 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19735675 PMID:19953625 PMID:20141835 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20523244 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21204800 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21871821 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22190897 PMID:22281684 PMID:22301711 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22698809 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22876591 PMID:22892241 PMID:22907230 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23312806 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23564332 PMID:23614898 PMID:23644139 PMID:23680146 PMID:23685455 PMID:23715574 PMID:23756559 PMID:23763990 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23875798 PMID:23907581 PMID:23918947 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24107445 PMID:24163374 PMID:24283439 PMID:24303953 PMID:24388723 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24458522 PMID:24508103 PMID:24512911 PMID:24524299 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24918823 PMID:24920063 PMID:25024077 PMID:25035421 PMID:25079330 PMID:25157968 PMID:25348715 PMID:25370471 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25741916 PMID:25754625 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26678033 PMID:26732095 PMID:26795593 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27478040 PMID:27521173 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28832562 PMID:28854169 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29453417 PMID:29493581 PMID:29522538 PMID:29533785 PMID:29752777 PMID:29907801 PMID:29925953 PMID:30094826 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30820351 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:31785789 PMID:31891627 PMID:32005694 PMID:32368696 PMID:32810930 PMID:32978145 PMID:33027564 PMID:33040082 PMID:33128510 PMID:33318624 PMID:33522658 PMID:33644862 PMID:33683002 PMID:34476331 PMID:34573299 PMID:35524774 PMID:16474404 PMID:25035421 PMID:21383153 More...
RGD:1600471 , RGD:11352608 , RGD:11567236
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17703371
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
G
Kras
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutations:CDS:p.G60R, p.D153V (human) ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 PMID:17703371 PMID:17704260 PMID:17875937 PMID:18958496 PMID:19020799 PMID:19396835 PMID:20186801 PMID:20949621 PMID:21686179 PMID:21784453 PMID:21797849 PMID:23059812 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25359213 PMID:25741868 PMID:26242988 PMID:27763634 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29517769 PMID:16474404 More...
RGD:1600471
NCBI chr 4:178,185,418...178,218,484
G
Map2k1
mitogen activated protein kinase kinase 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD ClinVar MouseDO
PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17703371 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:20354455 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29402968 PMID:29493581 PMID:29643386 PMID:29753091 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:32005694 PMID:32978145 PMID:33482860 More...
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Map2k2
mitogen activated protein kinase kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
CTD ClinVar
PMID:16439621 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19376813 PMID:20358587 PMID:23885229 PMID:24033266 PMID:24265153 PMID:25487361 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:33452774 More...
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CFC syndrome
CTD ClinVar
PMID:17703371 PMID:25741868 PMID:28492532
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar
PMID:28492532
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
G
Snapc5
small nuclear RNA activating complex, polypeptide 5
ISO
ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
ClinVar
NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
OMIM ClinVar
PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 PMID:5771505 PMID:11313766 PMID:12068308 PMID:15035987 PMID:16007634 PMID:16372351 PMID:16439621 PMID:16474404 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17314276 PMID:17366577 PMID:17437909 PMID:17483702 PMID:17496923 PMID:17551924 PMID:17555829 PMID:17603482 PMID:17603483 PMID:17703371 PMID:17704260 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18413255 PMID:18451217 PMID:18456719 PMID:18470943 PMID:18794803 PMID:18854871 PMID:18953432 PMID:19206169 PMID:19376813 PMID:19416762 PMID:19537845 PMID:19593635 PMID:20186801 PMID:20224900 PMID:20301365 PMID:20301557 PMID:20350999 PMID:20395089 PMID:20523244 PMID:20859831 PMID:21063443 PMID:21129611 PMID:21784453 PMID:21871821 PMID:22190897 PMID:22301711 PMID:22310681 PMID:22495831 PMID:22538770 PMID:22698809 PMID:22876591 PMID:22907230 PMID:23093928 PMID:23273605 PMID:23312806 PMID:23564332 PMID:23644139 PMID:23680146 PMID:23875798 PMID:23907581 PMID:23950000 PMID:23975261 PMID:24033266 PMID:24037001 PMID:24088041 PMID:24283439 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24524299 PMID:24719372 PMID:24728327 PMID:24775816 PMID:24800029 PMID:24803665 PMID:24920063 PMID:25035421 PMID:25155755 PMID:25157968 PMID:25337068 PMID:25463315 PMID:25533962 PMID:25741868 PMID:25741916 PMID:25754625 PMID:26242988 PMID:26361991 PMID:26472072 PMID:26582644 PMID:26619011 PMID:26633545 PMID:26732095 PMID:27146152 PMID:27276561 PMID:27322245 PMID:27329734 PMID:27391121 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28512244 PMID:28524057 PMID:28650561 PMID:28687512 PMID:28783719 PMID:28832562 PMID:28911804 PMID:28947956 PMID:28991257 PMID:29084544 PMID:29453417 PMID:29522538 PMID:29533785 PMID:29540830 PMID:29907801 PMID:30094826 PMID:30290804 PMID:30414707 PMID:30581057 PMID:30732632 PMID:30986545 PMID:31263281 PMID:31474318 PMID:31560489 PMID:32368696 PMID:33027564 PMID:33040082 PMID:33644862 PMID:33683002 PMID:34113008 PMID:34573299 PMID:35524774 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
ClinVar
PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 4:178,185,418...178,218,484
G
Map2k2
mitogen activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1
ClinVar
PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2
OMIM ClinVar
PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17409930 PMID:17551339 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:18628094 PMID:19396835 PMID:20652921 PMID:20949621 PMID:21062266 PMID:21797849 PMID:21871821 PMID:23059812 PMID:24033266 PMID:24703799 PMID:24803665 PMID:25326637 PMID:25741868 PMID:26037647 PMID:26242988 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29948256 PMID:30732632 More...
NCBI chr 4:178,185,418...178,218,484
G
Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder
OMIM ClinVar
PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18456719 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22588879 PMID:22848035 PMID:23093928 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:25741869 PMID:26343583 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:28495673 PMID:29402968 PMID:29493581 PMID:29753091 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:32005694 PMID:32978145 PMID:33128510 PMID:33482860 PMID:34006472 PMID:34308104 More...
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Map2k2
mitogen activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition DNA:missense mutation:CDS:p.P128Q (human)
OMIM ClinVar RGD
PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22558107 PMID:22753777 PMID:23885229 PMID:24033266 PMID:24265153 PMID:24719372 PMID:24803665 PMID:24896146 PMID:25326637 PMID:25487361 PMID:25741868 PMID:25802880 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29625052 PMID:29696744 PMID:29907801 PMID:30050098 PMID:30773290 PMID:32901917 PMID:20358587 More...
RGD:155791562
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
G
Fto
FTO, alpha-ketoglutarate dependent dioxygenase
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 CTD OMIM
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
G
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
G
Dpp9
dipeptidyl peptidase 9
ISO
ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome
OMIM ClinVar
PMID:36112693
NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all