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ONTOLOGY REPORT - ANNOTATIONS


Term:Facies
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Accession:DOID:9001487 term browser browse the term
Definition:The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Synonyms:primary_id: MESH:D019066;   RDO:0000297
For additional species annotation, visit the Alliance of Genome Resources.


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Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS like 2 JBrowse link NW_004936669 3,363,991 3,397,099 RGD:9068941
G Aff4 AF4/FMR2 family member 4 JBrowse link NW_004936647 2,242,476 2,342,409 RGD:9068941
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link NW_004936497 5,290,068 5,321,656 RGD:9068941
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link NW_004936880 546,250 608,061 RGD:9068941
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link NW_004936493 6,963,406 7,013,256 RGD:9068941
G Fmr1 FMRP translational regulator 1 JBrowse link NW_004936513 1,290,038 1,327,850 RGD:9068941
G Jag1 jagged canonical Notch ligand 1 JBrowse link NW_004936485 8,857,688 8,894,270 RGD:9068941
G Msl3 MSL complex subunit 3 JBrowse link NW_004936470 1,572,037 1,587,002 RGD:9068941
G Tbce tubulin folding cofactor E JBrowse link NW_004936484 17,048,187 17,097,414 RGD:9068941
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip12 thyroid hormone receptor interactor 12 JBrowse link NW_004936525 6,539,234 6,690,457 RGD:7240710
RGD:9068941
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY-box transcription factor 11 JBrowse link NW_004937107 203,120 207,185 RGD:7240710
RGD:9068941
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link NW_004936533 5,952,529 5,980,889 RGD:9068941
G Pitx2 paired like homeodomain 2 JBrowse link NW_004936563 1,713,294 1,732,431 RGD:7240710
RGD:9068941
G Prdm5 PR/SET domain 5 JBrowse link NW_004936662 388,279 524,803 RGD:9068941
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin beta JBrowse link NW_004936765 667,107 670,627 RGD:9068941
G Actg1 actin gamma 1 JBrowse link NW_004936594 5,170,711 5,173,251 RGD:9068941
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin beta JBrowse link NW_004936765 667,107 670,627 RGD:7240710
RGD:9068941
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin gamma 1 JBrowse link NW_004936594 5,170,711 5,173,251 RGD:7240710
RGD:9068941
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link NW_004936694 1,144,122 1,147,345 RGD:7240710
RGD:9068941
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link NW_004936521 4,267,619 4,305,481 RGD:9068941
G Kat6b lysine acetyltransferase 6B JBrowse link NW_004936521 4,309,699 4,497,755 RGD:7240710
RGD:9068941
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link NW_004936473 8,268,326 8,413,955 RGD:7240710
RGD:9068941
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link NW_004936469 1,523,667 1,525,830 RGD:7240710
RGD:9068941
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp2 ADNP homeobox 2 JBrowse link NW_004936616 124,590 145,944 RGD:9068941
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link NW_004936616 604,132 846,645 RGD:9068941
G Ctdp1 CTD phosphatase subunit 1 JBrowse link NW_004936616 369,306 407,083 RGD:9068941
G Galr1 galanin receptor 1 JBrowse link NW_004936616 2,007,339 2,020,737 RGD:9068941
G Hsbp1l1 heat shock factor binding protein 1 like 1 JBrowse link NW_004936616 244,940 249,941 RGD:9068941
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link NW_004936616 294,466 338,332 RGD:9068941
G Mbp myelin basic protein JBrowse link NW_004936616 2,082,154 2,159,028 RGD:9068941
G Nfatc1 nuclear factor of activated T cells 1 JBrowse link NW_004936616 484,062 584,950 RGD:9068941
G Pard6g par-6 family cell polarity regulator gamma JBrowse link NW_004936616 50,504 115,679 RGD:9068941
G Rbfa ribosome binding factor A JBrowse link NW_004936616 185,616 201,405 RGD:9068941
G Sall3 spalt like transcription factor 3 JBrowse link NW_004936616 903,220 922,635 RGD:9068941
G Slc66a2 solute carrier family 66 member 2 JBrowse link NW_004936616 265,609 292,430 RGD:9068941
G Txnl4a thioredoxin like 4A JBrowse link NW_004936616 220,255 232,042 RGD:7240710
RGD:9068941
G Znf236 zinc finger protein 236 JBrowse link NW_004936616 2,163,000 2,251,306 RGD:9068941
G Znf516 zinc finger protein 516 JBrowse link NW_004936616 2,451,952 2,553,843 RGD:9068941
C syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link NW_004936834 432,538 522,118 RGD:7240710
RGD:9068941
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link NW_004936592 4,728,371 4,833,830 RGD:9068941
G Hras HRas proto-oncogene, GTPase JBrowse link NW_004936888 375,372 378,125 RGD:9068941
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004936548 2,078,568 2,113,877 RGD:9068941
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link NW_004936471 26,589,251 26,628,302 RGD:9068941
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link NW_004936588 2,338,127 2,377,090 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004936668 2,602,261 2,687,903 RGD:9068941
G Snapc5 small nuclear RNA activating complex polypeptide 5 JBrowse link NW_004936471 26,629,765 26,634,640 RGD:9068941
G Tipin TIMELESS interacting protein JBrowse link NW_004936471 26,516,511 26,531,403 RGD:9068941
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link NW_004936592 4,728,371 4,833,830 RGD:7240710
RGD:9068941
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004936548 2,078,568 2,113,877 RGD:9068941
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link NW_004936588 2,338,127 2,377,090 RGD:9068941
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004936548 2,078,568 2,113,877 RGD:7240710
RGD:9068941
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link NW_004936471 26,589,251 26,628,302 RGD:7240710
RGD:9068941
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link NW_004936588 2,338,127 2,377,090 RGD:7240710
RGD:9068941
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1 RNA polymerase III transcription initiation factor subunit JBrowse link NW_004936621 265,834 329,255 RGD:7240710
RGD:9068941
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link NW_004936694 153,958 161,635 RGD:7240710
RGD:9068941
CHOPS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aff4 AF4/FMR2 family member 4 JBrowse link NW_004936647 2,242,476 2,342,409 RGD:7240710
RGD:9068941
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link NW_004936538 2,741,308 2,757,042 RGD:9068941
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm1a lysine demethylase 1A JBrowse link NW_004936474 8,262,913 8,319,089 RGD:7240710
RGD:9068941
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link NW_004936474 11,148,857 11,197,312 RGD:9068941
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004936489 8,811,094 9,202,423 RGD:9068941
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link NW_004936503 2,835,512 3,001,365 RGD:9068941
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link NW_004936659 1,152,846 1,246,718 RGD:9068941
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link NW_004936619 1,276,239 1,308,945 RGD:9068941
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link NW_004936474 11,148,857 11,197,312 RGD:9068941
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004936489 8,811,094 9,202,423 RGD:7240710
RGD:9068941
G Dpf2 double PHD fingers 2 JBrowse link NW_004936599 4,063,030 4,078,159 RGD:9068941
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link NW_004936503 2,835,512 3,001,365 RGD:9068941
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link NW_004936659 1,152,846 1,246,718 RGD:9068941
Coffin-Siris Syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 JBrowse link NW_004936512 7,747,066 7,759,943 RGD:7240710
RGD:9068941
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link NW_004936474 11,148,857 11,197,312 RGD:7240710
RGD:9068941
Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link NW_004936619 1,276,239 1,308,945 RGD:7240710
RGD:9068941
Coffin-Siris syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link NW_004936659 1,152,846 1,246,718 RGD:7240710
RGD:9068941
Coffin-Siris Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link NW_004936490 15,638,546 15,659,372 RGD:7240710
RGD:9068941
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link NW_004936512 4,020,303 4,199,390 RGD:7240710
RGD:9068941
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 double PHD fingers 2 JBrowse link NW_004936599 4,063,030 4,078,159 RGD:7240710
RGD:9068941
Coffin-Siris Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 JBrowse link NW_004936646 571,745 594,365 RGD:7240710
RGD:9068941
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin like cytokine factor 1 JBrowse link NW_004936599 2,372,889 2,376,316 RGD:9068941
G Crlf1 cytokine receptor like factor 1 JBrowse link NW_004936596 2,693,881 2,702,443 RGD:9068941
G Klhl7 kelch like family member 7 JBrowse link NW_004936478 279,580 337,655 RGD:9068941
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crlf1 cytokine receptor like factor 1 JBrowse link NW_004936596 2,693,881 2,702,443 RGD:7240710
RGD:9068941
G Klhl7 kelch like family member 7 JBrowse link NW_004936478 279,580 337,655 RGD:9068941
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin like cytokine factor 1 JBrowse link NW_004936599 2,372,889 2,376,316 RGD:7240710
RGD:9068941
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch like family member 7 JBrowse link NW_004936478 279,580 337,655 RGD:7240710
RGD:9068941
Combined Pituitary Hormone Deficiency, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link NW_004936481 8,747,203 8,897,617 RGD:9068941
G Hesx1 HESX homeobox 1 JBrowse link NW_004936473 7,545,982 7,572,222 RGD:9068941
G Lhx3 LIM homeobox 3 JBrowse link NW_004936669 1,561,433 1,573,074 RGD:9068941
G Lhx4 LIM homeobox 4 JBrowse link NW_004936481 8,908,157 8,950,093 RGD:9068941
G Pou1f1 POU class 1 homeobox 1 JBrowse link NW_004936610 2,262,715 2,279,098 RGD:7240710
RGD:9068941
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk13 cyclin dependent kinase 13 JBrowse link NW_004936478 15,296,055 15,387,749 RGD:7240710
RGD:9068941
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link NW_004936730 466,912 680,823 RGD:9068941
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004936476 25,663,563 25,692,315 RGD:9068941
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link NW_004936730 466,912 680,823 RGD:7240710
RGD:9068941
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004936476 25,663,563 25,692,315 RGD:9068941
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004936476 25,663,563 25,692,315 RGD:7240710
RGD:9068941
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2 like JBrowse link NW_004936783 1,175,044 1,194,407 RGD:7240710
RGD:9068941
geleophysic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS like 2 JBrowse link NW_004936669 3,363,991 3,397,099 RGD:9068941
G Fbn1 fibrillin 1 JBrowse link NW_004936471 10,747,030 10,969,223 RGD:9068941
geleophysic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS like 2 JBrowse link NW_004936669 3,363,991 3,397,099 RGD:7240710
RGD:9068941
geleophysic dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link NW_004936471 10,747,030 10,969,223 RGD:7240710
RGD:9068941
geleophysic dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link NW_004936599 3,902,903 3,918,471 RGD:7240710
RGD:9068941
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Znf148 zinc finger protein 148 JBrowse link NW_004936725 6,968 89,762 RGD:7240710
RGD:9068941
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma JBrowse link NW_004936494 9,247,600 9,283,019 RGD:7240710
RGD:9068941
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine methyltransferase 2A JBrowse link NW_004936542 3,480,071 3,566,823 RGD:7240710
RGD:9068941
G Smc1a structural maintenance of chromosomes 1A JBrowse link NW_004936751 332,351 388,756 RGD:9068941
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link NW_004936497 12,242,869 12,278,012 RGD:7240710
RGD:9068941
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fto FTO alpha-ketoglutarate dependent dioxygenase JBrowse link NW_004936475 6,321,725 6,689,410 RGD:7240710
RGD:9068941
G Rpgrip1l RPGRIP1 like JBrowse link NW_004936475 6,219,187 6,321,612 RGD:9068941
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dstyk dual serine/threonine and tyrosine protein kinase JBrowse link NW_004936557 7,191,377 7,243,489 RGD:7240710
RGD:9068941
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link NW_004936472 9,502,054 9,789,714 RGD:7240710
RGD:9068941
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link NW_004936845 268,357 454,557 RGD:7240710
RGD:9068941
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbck TBC1 domain containing kinase JBrowse link NW_004936814 837,394 1,052,220 RGD:7240710
RGD:9068941
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem94 transmembrane protein 94 JBrowse link NW_004936594 695,180 729,723 RGD:7240710
RGD:9068941
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo11 F-box protein 11 JBrowse link NW_004936508 4,622,695 4,708,694 RGD:7240710
RGD:9068941
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing 1 JBrowse link NW_004936602 3,419,873 3,436,119 RGD:7240710
RGD:9068941
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud6b OTU deubiquitinase 6B JBrowse link NW_004936544 4,688,332 4,705,304 RGD:7240710
RGD:9068941
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnk cyclin K JBrowse link NW_004936604 3,283,996 3,316,516 RGD:7240710
RGD:9068941
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx6 DEAD-box helicase 6 JBrowse link NW_004936542 3,748,599 3,781,405 RGD:7240710
RGD:9068941
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnot2 CCR4-NOT transcription complex subunit 2 JBrowse link NW_004936545 7,938,934 8,040,409 RGD:7240710
RGD:9068941
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnot3 CCR4-NOT transcription complex subunit 3 JBrowse link NW_004936994 256,022 271,235 RGD:7240710
RGD:9068941
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11b BAF chromatin remodeling complex subunit BCL11B JBrowse link NW_004936604 3,023,781 3,110,104 RGD:7240710
RGD:9068941
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link NW_004936482 17,727,418 17,744,780 RGD:7240710
RGD:9068941
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube3b ubiquitin protein ligase E3B JBrowse link NW_004936769 1,197,596 1,248,173 RGD:7240710
RGD:9068941
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link NW_004936641 569,002 661,935 RGD:7240710
RGD:9068941
G Kat6b lysine acetyltransferase 6B JBrowse link NW_004936521 4,309,699 4,497,755 RGD:9068941
G Trappc2l trafficking protein particle complex 2 like JBrowse link NW_004936641 887,034 889,435 RGD:9068941
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium inwardly rectifying channel subfamily J member 6 JBrowse link NW_004936500 5,002,668 5,164,511 RGD:7240710
RGD:9068941
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3gat3 beta-1,3-glucuronyltransferase 3 JBrowse link NW_004936581 636,648 642,138 RGD:7240710
RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004936597 1,890,737 1,900,702 RGD:9068941
G Chst3 carbohydrate sulfotransferase 3 JBrowse link NW_004936521 6,864,456 6,900,122 RGD:9068941
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004936476 25,663,563 25,692,315 RGD:9068941
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link NW_004936483 15,430,735 15,450,872 RGD:7240710
RGD:9068941
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erc1 ELKS/RAB6-interacting/CAST family member 1 JBrowse link NW_004936606 1,201,420 1,713,894 RGD:9068941
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link NW_004936471 24,142,227 24,330,966 RGD:7240710
RGD:9068941
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link NW_004936735 1,252,414 1,338,318 RGD:7240710
RGD:9068941
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amfr autocrine motility factor receptor JBrowse link NW_004936475 8,692,969 8,727,252 RGD:9068941
G Apob apolipoprotein B JBrowse link NW_004936493 10,509,118 10,549,144 RGD:9068941
G Arid1a AT-rich interaction domain 1A JBrowse link NW_004936474 11,148,857 11,197,312 RGD:9068941
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004936489 8,811,094 9,202,423 RGD:9068941
G Asxl3 ASXL transcriptional regulator 3 JBrowse link NW_004936517 11,064,986 11,074,992 RGD:9068941
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link NW_004936627 1,555,151 1,584,370 RGD:9068941
G Atxn2l ataxin 2 like JBrowse link NW_004936501 11,865,796 11,875,215 RGD:9068941
G B3glct beta 3-glucosyltransferase JBrowse link NW_004936472 25,909,994 25,991,800 RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004936597 1,890,737 1,900,702 RGD:9068941
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link NW_004936491 6,021,340 6,118,103 RGD:9068941
G Begain brain enriched guanylate kinase associated JBrowse link NW_004936604 4,162,728 4,195,540 RGD:9068941
G Cdh5 cadherin 5 JBrowse link NW_004936475 16,738,772 16,775,000 RGD:9068941
G Cdhr2 cadherin related family member 2 JBrowse link NW_004936597 831,895 855,925 RGD:9068941
G Cdk13 cyclin dependent kinase 13 JBrowse link NW_004936478 15,296,055 15,387,749 RGD:9068941
G Cers2 ceramide synthase 2 JBrowse link NW_004936580 1,192,843 1,201,863 RGD:9068941
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link NW_004936595 1,131,198 1,154,615 RGD:9068941
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link NW_004936880 546,250 608,061 RGD:9068941
G Cic capicua transcriptional repressor JBrowse link NW_004936706 216,394 243,361 RGD:9068941
G Cit citron rho-interacting serine/threonine kinase JBrowse link NW_004936668 991,043 1,146,578 RGD:9068941
G Cldn11 claudin 11 JBrowse link NW_004936593 2,072,368 2,087,820 RGD:9068941
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link NW_004936490 16,834,570 16,841,734 RGD:9068941
G Col6a3 collagen type VI alpha 3 chain JBrowse link NW_004936525 905,419 983,486 RGD:9068941
G Crebbp CREB binding protein JBrowse link NW_004936694 552,447 663,237 RGD:9068941
G Dbn1 drebrin 1 JBrowse link NW_004936597 1,735,589 1,751,628 RGD:9068941
G Ddx3x DEAD-box helicase 3 X-linked JBrowse link NW_004936502 7,770,896 7,820,555 RGD:9068941
G Ddx41 DEAD-box helicase 41 JBrowse link NW_004936597 1,787,830 1,793,352 RGD:9068941
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link NW_004936528 6,428,824 6,477,007 RGD:9068941
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link NW_004936595 487,918 513,843 RGD:9068941
G Dok3 docking protein 3 JBrowse link NW_004936597 1,781,129 1,785,998 RGD:9068941
G Dscaml1 DS cell adhesion molecule like 1 JBrowse link NW_004936542 2,619,910 2,939,578 RGD:9068941
G Dsp desmoplakin JBrowse link NW_004936534 5,029,008 5,076,467 RGD:9068941
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link NW_004936669 321,580 450,061 RGD:9068941
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B JBrowse link NW_004936597 898,012 900,677 RGD:9068941
G Emilin3 elastin microfibril interfacer 3 JBrowse link NW_004936561 403,480 431,082 RGD:9068941
G F12 coagulation factor XII JBrowse link NW_004936597 1,687,511 1,694,782 RGD:9068941
G Faf2 Fas associated factor family member 2 JBrowse link NW_004936597 710,168 772,455 RGD:9068941
G Fam193b family with sequence similarity 193 member B JBrowse link NW_004936597 1,795,669 1,827,090 RGD:9068941
G Fam83h family with sequence similarity 83 member H JBrowse link NW_004936470 8,413,055 8,418,360 RGD:9068941
G Fbn2 fibrillin 2 JBrowse link NW_004936504 1,535,629 1,757,386 RGD:9068941
G Fbxo11 F-box protein 11 JBrowse link NW_004936508 4,622,695 4,708,694 RGD:9068941
G Fgfr4 fibroblast growth factor receptor 4 JBrowse link NW_004936597 1,388,394 1,397,731 RGD:9068941
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link NW_004936596 2,728,089 2,735,718 RGD:9068941
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link NW_004936515 1,806,721 1,859,227 RGD:9068941
G Glt8d2 glycosyltransferase 8 domain containing 2 JBrowse link NW_004936492 10,435,746 10,476,400 RGD:9068941
G Gprin1 G protein regulated inducer of neurite outgrowth 1 JBrowse link NW_004936597 857,585 869,164 RGD:9068941
G Grk6 G protein-coupled receptor kinase 6 JBrowse link NW_004936597 1,706,671 1,722,370 RGD:9068941
G Hdlbp high density lipoprotein binding protein JBrowse link NW_004936745 555,020 608,572 RGD:9068941
G Hk3 hexokinase 3 JBrowse link NW_004936597 1,122,648 1,143,342 RGD:9068941
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link NW_004936514 4,827,156 4,902,271 RGD:9068941
G Lman2 lectin, mannose binding 2 JBrowse link NW_004936597 1,619,380 1,638,469 RGD:9068941
G Med13l mediator complex subunit 13L JBrowse link NW_004936558 5,998,760 6,288,666 RGD:9068941
G Mettl11b methyltransferase like 11B JBrowse link NW_004936481 16,582,352 16,598,385 RGD:9068941
G Mtrex Mtr4 exosome RNA helicase JBrowse link NW_004936480 12,357,637 12,458,728 RGD:9068941
G Mxd3 MAX dimerization protein 3 JBrowse link NW_004936597 1,584,047 1,588,930 RGD:9068941
G Neu3 neuraminidase 3 JBrowse link NW_004936498 3,897,511 3,915,013 RGD:9068941
G Nf2 neurofibromin 2 JBrowse link NW_004936657 3,536,212 3,622,999 RGD:9068941
G Nfib nuclear factor I B JBrowse link NW_004936539 7,763,036 8,185,001 RGD:9068941
G Nfix nuclear factor I X JBrowse link NW_004936659 2,065,410 2,136,898 RGD:9068941
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link NW_004936597 1,426,318 1,577,193 RGD:9068941
G Nup205 nucleoporin 205 JBrowse link NW_004936592 363,723 431,966 RGD:9068941
G Pah phenylalanine hydroxylase JBrowse link NW_004936492 11,342,566 11,412,323 RGD:9068941
G Pdlim7 PDZ and LIM domain 7 JBrowse link NW_004936597 1,759,676 1,773,335 RGD:9068941
G Pfn3 profilin 3 JBrowse link NW_004936597 1,685,538 1,686,668 RGD:9068941
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link NW_004936498 13,785,638 13,885,931 RGD:9068941
G Pkd1l2 polycystin 1 like 2 JBrowse link NW_004936475 28,765,416 28,846,310 RGD:9068941
G Pnpla6 patatin like phospholipase domain containing 6 JBrowse link NW_004936588 4,608,856 4,632,198 RGD:9068941
G Prelid1 PRELI domain containing 1 JBrowse link NW_004936597 1,580,849 1,584,445 RGD:9068941
G Prr7 proline rich 7, synaptic JBrowse link NW_004936597 1,726,143 1,735,295 RGD:9068941
G Rab24 RAB24, member RAS oncogene family JBrowse link NW_004936597 1,578,529 1,580,787 RGD:9068941
G Ralgapb Ral GTPase activating protein non-catalytic beta subunit JBrowse link NW_004936561 2,806,195 2,908,909 RGD:9068941
G Ranbp10 RAN binding protein 10 JBrowse link NW_004936475 18,117,532 18,185,531 RGD:9068941
G Rgs14 regulator of G protein signaling 14 JBrowse link NW_004936597 1,650,480 1,658,823 RGD:9068941
G Rnf44 ring finger protein 44 JBrowse link NW_004936597 786,256 802,469 RGD:9068941
G Satb1 SATB homeobox 1 JBrowse link NW_004936473 10,906,059 11,001,007 RGD:9068941
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link NW_004936469 13,872,701 14,019,170 RGD:9068941
G Sidt1 SID1 transmembrane family member 1 JBrowse link NW_004936536 1,074,987 1,156,318 RGD:9068941
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004936597 1,667,700 1,684,533 RGD:9068941
G Slc6a1 solute carrier family 6 member 1 JBrowse link NW_004936602 2,359,151 2,397,346 RGD:9068941
G Sncb synuclein beta JBrowse link NW_004936597 878,270 888,346 RGD:9068941
G Spag9 sperm associated antigen 9 JBrowse link NW_004936490 10,663,155 10,796,658 RGD:9068941
G Stk11 serine/threonine kinase 11 JBrowse link NW_004936588 579,816 601,033 RGD:9068941
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link NW_004936476 25,446,524 25,474,793 RGD:9068941
G Taf1 TATA-box binding protein associated factor 1 JBrowse link NW_004936762 189,710 271,759 RGD:9068941
G Tapbpl TAP binding protein like JBrowse link NW_004936709 1,304,843 1,313,191 RGD:9068941
G Tbr1 T-box brain transcription factor 1 JBrowse link NW_004936469 17,481,049 17,489,535 RGD:9068941
G Tpcn2 two pore segment channel 2 JBrowse link NW_004936599 1,301,937 1,343,046 RGD:9068941
G Tspan17 tetraspanin 17 JBrowse link NW_004936597 901,729 913,847 RGD:9068941
G Uimc1 ubiquitin interaction motif containing 1 JBrowse link NW_004936597 1,143,835 1,260,339 RGD:9068941
G Unc5a unc-5 netrin receptor A JBrowse link NW_004936597 1,060,496 1,122,832 RGD:9068941
G Wscd2 WSC domain containing 2 JBrowse link NW_004936769 187,183 272,241 RGD:9068941
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link NW_004936526 6,706,035 6,714,011 RGD:9068941
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link NW_004936536 1,776,065 2,546,286 RGD:9068941
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link NW_004936514 10,987,728 11,027,450 RGD:9068941
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link NW_004936469 32,240,730 32,372,413 RGD:9068941
G Znf346 zinc finger protein 346 JBrowse link NW_004936597 1,311,007 1,363,731 RGD:9068941
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med13l mediator complex subunit 13L JBrowse link NW_004936558 5,998,760 6,288,666 RGD:7240710
RGD:9068941
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl3 F-box and leucine rich repeat protein 3 JBrowse link NW_004936511 4,259,066 4,280,501 RGD:7240710
RGD:9068941
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 RUNX family transcription factor 2 JBrowse link NW_004936476 14,695,965 14,818,246 RGD:7240710
RGD:9068941
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link NW_004936476 14,857,428 15,336,145 RGD:9068941
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link NW_004936601 2,163,316 2,213,674 RGD:7240710
RGD:9068941
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase like domain containing 1 JBrowse link NW_004936469 32,514,679 32,791,418 RGD:9068941
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link NW_004936469 32,240,730 32,372,413 RGD:7240710
RGD:9068941
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spop speckle type BTB/POZ protein JBrowse link NW_004936490 11,894,449 11,969,730 RGD:7240710
RGD:9068941
Nabais Sa-de Vries Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spop speckle type BTB/POZ protein JBrowse link NW_004936490 11,894,449 11,969,730 RGD:7240710
RGD:9068941
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ints1 integrator complex subunit 1 JBrowse link NW_004936754 1,597,574 1,626,578 RGD:7240710
RGD:9068941
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm6b lysine demethylase 6B JBrowse link NW_004936595 1,077,318 1,099,082 RGD:7240710
RGD:9068941
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmiz1 zinc finger MIZ-type containing 1 JBrowse link NW_004936521 444,599 664,533 RGD:7240710
RGD:9068941
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rac3 Rac family small GTPase 3 JBrowse link NW_004936594 5,527,788 5,530,694 RGD:7240710
RGD:9068941
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004936489 8,811,094 9,202,423 RGD:9068941
G Cdkl5 cyclin dependent kinase like 5 JBrowse link NW_004936844 101,815 271,254 RGD:9068941
G Rs1 retinoschisin 1 JBrowse link NW_004936844 284,938 314,524 RGD:9068941
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link NW_004936503 2,835,512 3,001,365 RGD:7240710
RGD:9068941
Oculoskeletodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha JBrowse link NW_004936528 1,845,372 1,964,908 RGD:7240710
RGD:9068941
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl2 BCL2 apoptosis regulator JBrowse link NW_004936497 2,209,136 2,373,580 RGD:9068941
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link NW_004936472 15,136,656 16,177,597 RGD:7240710
RGD:9068941
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link NW_004936541 965,135 967,018 RGD:7240710
RGD:9068941
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubgcp2 tubulin gamma complex associated protein 2 JBrowse link NW_004936486 19,404,651 19,423,601 RGD:7240710
RGD:9068941
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas associated transcription factor 1a JBrowse link NW_004936520 4,978,896 4,980,648 RGD:7240710
RGD:9068941
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 TBL1X receptor 1 JBrowse link NW_004936566 5,721,541 5,861,838 RGD:7240710
RGD:9068941
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx54 DEAD-box helicase 54 JBrowse link NW_004936668 3,062,868 3,074,769 RGD:9068941
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link NW_004936648 395,526 546,705 RGD:9068941
G Kat6b lysine acetyltransferase 6B JBrowse link NW_004936521 4,309,699 4,497,755 RGD:9068941
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link NW_004936540 4,074,543 4,178,859 RGD:7240710
RGD:9068941
G Cenpj centromere protein J JBrowse link NW_004936720 2,149,296 2,201,599 RGD:9068941
G Cep152 centrosomal protein 152 JBrowse link NW_004936471 11,052,994 11,133,385 RGD:9068941
G Pcnt pericentrin JBrowse link NW_004936778 149,844 248,905 RGD:9068941
Severe Growth Restriction with Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf2 insulin like growth factor 2 JBrowse link NW_004936816 972,902 981,232 RGD:7240710
RGD:9068941
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link NW_004936508 5,650,057 5,658,966 RGD:7240710
RGD:9068941
G Pigf phosphatidylinositol glycan anchor biosynthesis class F JBrowse link NW_004936508 5,659,059 5,695,441 RGD:9068941
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc2 exosome component 2 JBrowse link NW_004936487 17,675,401 17,686,224 RGD:7240710
RGD:9068941
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poc1a POC1 centriolar protein A JBrowse link NW_004936529 3,423,588 3,495,698 RGD:7240710
RGD:9068941
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link NW_004936595 1,131,198 1,154,615 RGD:7240710
RGD:9068941
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX chromatin remodeler JBrowse link NW_004936683 2,496,307 2,718,539 RGD:9068941
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link NW_004936751 478,978 622,818 RGD:7240710
RGD:9068941
trichohepatoenteric syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nelfe negative elongation factor complex member E JBrowse link NW_004936727 1,589,942 1,596,009 RGD:9068941
G Skiv2l Ski2 like RNA helicase JBrowse link NW_004936727 1,579,208 1,590,215 RGD:9068941
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link NW_004936523 7,786,629 7,885,220 RGD:9068941
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link NW_004936592 5,454,860 5,531,285 RGD:9068941
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link NW_004936523 7,786,629 7,885,220 RGD:7240710
RGD:9068941
trichohepatoenteric syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link NW_004936727 1,579,208 1,590,215 RGD:7240710
RGD:9068941
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link NW_004936470 30,475,779 30,666,546 RGD:7240710
RGD:9068941
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcgf2 polycomb group ring finger 2 JBrowse link NW_004936490 14,139,125 14,150,377 RGD:7240710
RGD:9068941
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link NW_004936636 774,705 1,402,009 RGD:9068941
G Lrig2 leucine rich repeats and immunoglobulin like domains 2 JBrowse link NW_004936690 1,591,741 1,642,183 RGD:9068941
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link NW_004936636 774,705 1,402,009 RGD:7240710
RGD:9068941
Urofacial Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrig2 leucine rich repeats and immunoglobulin like domains 2 JBrowse link NW_004936690 1,591,741 1,642,183 RGD:7240710
RGD:9068941
Uruguay Faciocardiomusculoskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link NW_004936513 11,025,753 11,064,312 RGD:9068941
RGD:7240710
Verheij Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Puf60 poly(U) binding splicing factor 60 JBrowse link NW_004936470 8,336,852 8,348,335 RGD:7240710
RGD:9068941
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qrich1 glutamine rich 1 JBrowse link NW_004936529 753,842 802,405 RGD:7240710
RGD:9068941

Term paths to the root
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Term Annotations click to browse term
  disease 11793
    Pathological Conditions, Signs and Symptoms 6912
      Pathologic Processes 4655
        Disease Attributes 496
          Facies 237
            Al Gazali Aziz Salem Syndrome 0
            Al Gazali Hirschsprung Syndrome 0
            Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
            Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 0
            Axenfeld-Rieger syndrome type 1 3
            Ayme-Gripp syndrome 0
            Baraitser-Winter syndrome + 2
            Beaulieu-Boycott-Innes Syndrome 1
            Beemer Ertbruggen Syndrome 0
            Boomerang dysplasia 1
            Bowen Syndrome 0
            Brachycephaly, Trichomegaly, and Developmental Delay 1
            Brachytelephalangy Characteristic Facies Kallmann 0
            Brunoni Syndrome 0
            Burn-Mckeown Syndrome 15
            C syndrome 1
            CHOPS Syndrome 1
            Cerebellofaciodental Syndrome 1
            Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 0
            Chondrodysplasia, Megarbane-Dagher-Melki Type 1
            Chromosome Xq28 Duplication Syndrome 0
            Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 0
            Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
            Coffin-Siris syndrome + 11
            Combined Pituitary Hormone Deficiency, 1 5
            Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 0
            Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
            Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0
            Congenital Micromelic Dysplasia with Dislocation of Radius + 1
            Cortical Blindness, Retardation, and Postaxial Polydactyly 0
            Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
            Cree Mental Retardation Syndrome 0
            Crumpled Helices and Small Mouth 0
            Cubitus Valgus with Mental Retardation and Unusual Facies 0
            Cyprus Facial Neuromusculoskeletal Syndrome 0
            Davis Lafer Syndrome 0
            De Hauwere syndrome 0
            Deafness-Craniofacial Syndrome 0
            Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
            Der Kaloustian Mcintosh Silver Syndrome 0
            Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
            Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
            Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 0
            Dubowitz syndrome 0
            Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
            Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
            Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
            Ectrodactyly Cardiopathy Dysmorphism 0
            Edinburgh Malformation Syndrome 0
            FACES Syndrome 0
            Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0
            Faciocardiomelic Syndrome 0
            Feingold Trainer Syndrome 0
            Filippi Syndrome 1
            Fryns Macrocephaly 0
            Fryns Syndrome 0
            GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
            Giacheti Syndrome 0
            Gingival Fibromatosis with Distinctive Facies 0
            Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
            Granddad Syndrome 0
            Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
            Growth Mental Deficiency Syndrome of Myhre 1
            Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
            Hadziselimovic Syndrome 0
            Haspeslagh Fryns Muelenaere Syndrome 0
            Holoprosencephaly 10 0
            Hypotonia, Seizures, and Precocious Puberty 0
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies + 3
            Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
            Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
            Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
            Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
            Iris Dysplasia Hypertelorism Deafness 0
            Irons Bhan Syndrome 0
            KBG syndrome 3
            Kahrizi syndrome 1
            Kaufman oculocerebrofacial syndrome 1
            Keppen-Lubinsky Syndrome 1
            Kozlowski Rafinski Klicharska Syndrome 0
            Kozlowski-Krajewska Syndrome 0
            Larsen-Like Syndromes + 4
            Leri Pleonosteosis 0
            Lichtenstein Syndrome 0
            Lymphedema, Cardiac Septal Defects, And Characteristic Facies 0
            MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 2
            Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
            Malocclusion and Short Stature 0
            Marfanoid Mental Retardation Syndrome, Autosomal 95
            McDonough Syndrome 0
            McPherson Clemens Syndrome 0
            Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
            Mental Retardation, Buenos Aires Type 0
            Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
            Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
            Microcephaly Cervical Spine Fusion Anomalies 0
            Microcephaly Deafness Syndrome 0
            Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
            Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
            Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 0
            Mowat-Wilson syndrome 2
            Multiple Pterygium Syndrome, X-Linked 0
            NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; 1
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES 1
            NF1 Microduplication Syndrome 0
            Nabais Sa-de Vries Syndrome, Type 1 1
            Nabais Sa-de Vries Syndrome, Type 2 1
            Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 1
            Nicolaides Baraitser Syndrome 4
            Night Blindness Skeletal Anomalies Unusual Facies 0
            Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
            Oculoskeletodental Syndrome 1
            Omodysplasia 2 1
            Oroacral Syndrome, Verloes-Koulischer Type 0
            Osteolysis Syndrome, Recessive 0
            Otoonychoperoneal Syndrome 0
            PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 1
            Palant Cleft Palate Syndrome 0
            Partington Anderson Syndrome 0
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
            Pfeiffer Palm Teller Syndrome 0
            Pierpont syndrome 1
            Pierre Robin Sequence with Facial and Digital Anomalies 0
            Progeroid Facial Appearance with Hand Anomalies 0
            Radioulnar Synostosis Retinal Pigment Abnormalities 0
            Ramos Arroyo Clark Syndrome 0
            Renal Dysplasia - Limb Defects Syndrome 0
            Renal and Mullerian Duct Hypoplasia + 4
            Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
            Roifman-Chitayat Syndrome 0
            Rudiger Syndrome 0
            Ruvalcaba Syndrome 0
            SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
            SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 1
            Schrander-Stumpel Theunissen Hulsmans Syndrome 0
            Seckel Syndrome 3 0
            Seckel syndrome 1 4
            Severe Growth Restriction with Distinctive Facies 1
            Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
            Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
            Shprintzen Omphalocele Syndrome 0
            Snijders Blok-Campeau Syndrome 1
            Spinocerebellar Ataxia with Dysmorphism 0
            Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
            Thakker Donnai Syndrome 0
            Thomas Jewett Raines Syndrome 0
            Thrombocytopenia Robin Sequence 0
            Turnpenny-Fry Syndrome 1
            Uruguay Faciocardiomusculoskeletal Syndrome 1
            VERVERI-BRADY SYNDROME 1
            Verheij Syndrome 1
            White Forelock with Malformations 0
            Winter Harding Hyde Syndrome 0
            Zechi-Ceide Syndrome 0
            autosomal dominant mental retardation 49 1
            blepharophimosis-intellectual disability syndrome, SBBYS type 2
            cardiofaciocutaneous syndrome + 8
            chromosome 17q11.2 deletion syndrome, 1.4Mb 1
            chromosome 5p13 duplication syndrome 0
            cold-induced sweating syndrome + 3
            distal 10q deletion syndrome 0
            fibrochondrogenesis + 2
            geleophysic dysplasia + 3
            hereditary spastic paraplegia 23 1
            macrocephaly-autism syndrome 1
            metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
            microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
            neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
            syndromic X-linked intellectual disability Turner type 2
            trichohepatoenteric syndrome + 4
            trichorhinophalangeal syndrome type III 1
            urofacial syndrome + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.