Term: | Frontal bossing |
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Accession: | HP:0002007
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browse the term
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Definition: | Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. |
Comment: | This is not the same as prominent forehead. |
Synonyms: | exact_synonym: | Frontal protruberance; Skull bossing |
| alt_id: | HP:0000254; HP:0000333; HP:0001358; HP:0001359 |
| xref: | SNOMEDCT_US:90145001; UMLS:C0221354 |
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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IAGP |
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HPO |
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OMIM:617602 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACAN |
aggrecan |
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IAGP |
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HPO |
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OMIM:165800 |
NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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ACOX1 |
acyl-CoA oxidase 1 |
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IAGP |
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HPO |
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OMIM:264470 |
NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
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ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
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HPO |
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OMIM:607944 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ADK |
adenosine kinase |
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IAGP |
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HPO |
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OMIM:614300 |
NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963
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AGO2 |
argonaute RISC catalytic component 2 |
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IAGP |
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HPO |
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OMIM:619149 |
NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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ORPHA:963 ORPHA:99725 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP |
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HPO |
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OMIM:219150 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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ALDH6A1 |
aldehyde dehydrogenase 6 family member A1 |
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IAGP |
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HPO |
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OMIM:614105 |
NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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OMIM:608776 ORPHA:79328 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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ALPL |
alkaline phosphatase, biomineralization associated |
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IAGP |
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HPO |
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OMIM:241510 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ALX4 |
ALX homeobox 4 |
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IAGP |
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HPO |
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ORPHA:228390 ORPHA:35093 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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AMER1 |
APC membrane recruitment protein 1 |
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IAGP |
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HPO |
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OMIM:300373 ORPHA:2780 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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ANKRD11 |
ankyrin repeat domain containing 11 |
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IAGP |
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HPO |
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ORPHA:261250 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
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ANTXR1 |
ANTXR cell adhesion molecule 1 |
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IAGP |
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HPO |
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OMIM:230740 ORPHA:2067 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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AP1G1 |
adaptor related protein complex 1 subunit gamma 1 |
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IAGP |
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HPO |
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OMIM:619467 |
NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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OMIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ARID2 |
AT-rich interaction domain 2 |
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IAGP |
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HPO |
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OMIM:617808 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ATAD3A |
ATPase family AAA domain containing 3A |
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IAGP |
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HPO |
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OMIM:617183 |
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
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ATIC |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
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IAGP |
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HPO |
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OMIM:608688 |
NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773
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ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
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IAGP |
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HPO |
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OMIM:219200 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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AXIN1 |
axin 1 |
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IAGP |
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HPO |
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OMIM:620558 |
NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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OMIM:615349 ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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B3GAT3 |
beta-1,3-glucuronyltransferase 3 |
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IAGP |
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HPO |
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OMIM:245600 |
NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154
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B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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OMIM:261540 ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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B9D1 |
B9 domain containing 1 |
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IAGP |
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HPO |
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OMIM:617120 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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B9D2 |
B9 domain containing 2 |
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IAGP |
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HPO |
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OMIM:614175 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
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BAP1 |
BRCA1 associated protein 1 |
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IAGP |
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HPO |
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OMIM:619762 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BGN |
biglycan |
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IAGP |
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HPO |
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OMIM:300989 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
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IAGP |
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HPO |
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OMIM:619325 |
NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BMPR2 |
bone morphogenetic protein receptor type 2 |
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IAGP |
ClinVar Annotator: match by term: Frontal bossing |
ClinVar |
PMID:12358323 PMID:25741868 PMID:28492532 |
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NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:1340 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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BRIP1 |
BRCA1 interacting helicase 1 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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BRWD3 |
bromodomain and WD repeat domain containing 3 |
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IAGP |
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HPO |
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OMIM:300659 |
NCBI chr X:80,669,503...80,809,877
Ensembl chr X:80,669,503...80,809,877
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BUB1 |
BUB1 mitotic checkpoint serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:1052 |
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
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BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
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IAGP |
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HPO |
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ORPHA:1052 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
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BUB3 |
BUB3 mitotic checkpoint protein |
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IAGP |
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HPO |
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ORPHA:1052 |
NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467
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C12orf57 |
chromosome 12 open reading frame 57 |
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IAGP |
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HPO |
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OMIM:218340 |
NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
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CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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IAGP |
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HPO |
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OMIM:620029 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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CAMKMT |
calmodulin-lysine N-methyltransferase |
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IAGP |
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HPO |
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ORPHA:163693 |
NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592
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CASZ1 |
castor zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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OMIM:613563 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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CCDC8 |
coiled-coil domain containing 8 |
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IAGP |
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HPO |
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OMIM:614205 ORPHA:2616 |
NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
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CDC42BPB |
CDC42 binding protein kinase beta |
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IAGP |
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HPO |
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OMIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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CDH2 |
cadherin 2 |
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IAGP |
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HPO |
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OMIM:618929 |
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
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CDKN1C |
cyclin dependent kinase inhibitor 1C |
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IAGP |
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HPO |
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ORPHA:397590 ORPHA:85173 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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CEP57 |
centrosomal protein 57 |
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IAGP |
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HPO |
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OMIM:614114 ORPHA:1052 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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CHD1 |
chromodomain helicase DNA binding protein 1 |
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IAGP |
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HPO |
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OMIM:617682 ORPHA:529965 |
NCBI chr 5:98,853,985...98,929,007
Ensembl chr 5:98,853,985...98,929,007
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CHD3 |
chromodomain helicase DNA binding protein 3 |
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IAGP |
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HPO |
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OMIM:618205 |
NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
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CHD5 |
chromodomain helicase DNA binding protein 5 |
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IAGP |
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HPO |
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OMIM:619873 |
NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321
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CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
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IAGP |
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HPO |
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ORPHA:199318 |
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
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CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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OMIM:245600 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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CKAP2L |
cytoskeleton associated protein 2 like |
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IAGP |
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HPO |
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ORPHA:3255 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
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CLCN3 |
chloride voltage-gated channel 3 |
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IAGP |
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HPO |
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OMIM:619512 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:53 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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COG4 |
component of oligomeric golgi complex 4 |
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IAGP |
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HPO |
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ORPHA:85172 |
NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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OMIM:228520 ORPHA:440354 ORPHA:560 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
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HPO |
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OMIM:614524 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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OMIM:259420 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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OMIM:259420 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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OMIM:200610 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL9A2 |
collagen type IX alpha 2 chain |
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IAGP |
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HPO |
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OMIM:600204 |
NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
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COX4I1 |
cytochrome c oxidase subunit 4I1 |
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IAGP |
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HPO |
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OMIM:619060 |
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
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COX5A |
cytochrome c oxidase subunit 5A |
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IAGP |
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HPO |
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OMIM:619064 |
NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083
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CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CREBBP |
CREB binding protein |
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IAGP |
ClinVar Annotator: match by term: Frontal bossing |
ClinVar HPO |
PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392 |
OMIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CRIPT |
CXXC repeat containing interactor of PDZ3 domain |
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IAGP |
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HPO |
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OMIM:615789 |
NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176
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CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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IAGP |
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HPO |
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OMIM:614643 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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CSGALNACT1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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IAGP |
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HPO |
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OMIM:618870 |
NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
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CSPP1 |
centrosome and spindle pole associated protein 1 |
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IAGP |
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HPO |
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ORPHA:397715 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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OMIM:617915 ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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CTNS |
cystinosin, lysosomal cystine transporter |
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IAGP |
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HPO |
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OMIM:219800 |
NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
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CTSK |
cathepsin K |
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IAGP |
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HPO |
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OMIM:265800 ORPHA:763 |
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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CUL7 |
cullin 7 |
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IAGP |
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HPO |
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OMIM:273750 ORPHA:2616 |
NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
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CUX1 |
cut like homeobox 1 |
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IAGP |
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HPO |
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OMIM:618330 |
NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
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CWC27 |
CWC27 spliceosome associated cyclophilin |
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IAGP |
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HPO |
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OMIM:250410 ORPHA:166035 |
NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412
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CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
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IAGP |
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HPO |
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OMIM:264700 ORPHA:289157 |
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
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IAGP |
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HPO |
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OMIM:600081 ORPHA:289157 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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D2HGDH |
D-2-hydroxyglutarate dehydrogenase |
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IAGP |
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HPO |
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OMIM:600721 |
NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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OMIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DDX59 |
DEAD-box helicase 59 |
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IAGP |
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HPO |
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OMIM:174300 ORPHA:2919 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
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DDX6 |
DEAD-box helicase 6 |
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IAGP |
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HPO |
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OMIM:618653 |
NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
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DEAF1 |
DEAF1 transcription factor |
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IAGP |
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HPO |
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OMIM:615828 ORPHA:819 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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DENND5A |
DENN domain containing 5A |
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IAGP |
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HPO |
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OMIM:617281 |
NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959
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DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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IAGP |
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HPO |
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OMIM:620504 |
NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
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DHCR24 |
24-dehydrocholesterol reductase |
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IAGP |
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HPO |
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OMIM:602398 ORPHA:35107 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
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DICER1 |
dicer 1, ribonuclease III |
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IAGP |
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HPO |
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OMIM:618272 |
NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
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DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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DLX3 |
distal-less homeobox 3 |
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IAGP |
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HPO |
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OMIM:190320 ORPHA:3352 |
NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
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DLX5 |
distal-less homeobox 5 |
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IAGP |
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HPO |
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OMIM:220600 |
NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
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DPYD |
dihydropyrimidine dehydrogenase |
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IAGP |
ClinVar Annotator: match by term: Frontal bossing |
ClinVar |
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
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NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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DPYSL5 |
dihydropyrimidinase like 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
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DSE |
dermatan sulfate epimerase |
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IAGP |
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HPO |
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OMIM:615539 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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OMIM:180700 OMIM:616331 ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
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HPO |
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OMIM:616894 ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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DYNC2I2 |
dynein 2 intermediate chain 2 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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OMIM:302960 ORPHA:35173 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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OMIM:305100 ORPHA:181 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDA2R |
ectodysplasin A2 receptor |
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IAGP |
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HPO |
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ORPHA:181 |
NCBI chr X:66,595,637...66,639,269
Ensembl chr X:66,595,637...66,639,298
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EDAR |
ectodysplasin A receptor |
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IAGP |
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HPO |
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OMIM:224900 |
NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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OMIM:224900 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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EFNB1 |
ephrin B1 |
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IAGP |
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HPO |
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OMIM:304110 ORPHA:1520 |
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
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EIF5A |
eukaryotic translation initiation factor 5A |
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IAGP |
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HPO |
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OMIM:619376 |
NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
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EMC10 |
ER membrane protein complex subunit 10 |
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IAGP |
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HPO |
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OMIM:619264 |
NCBI chr19:50,476,507...50,490,871
Ensembl chr19:50,476,400...50,490,871
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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OMIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPB41 |
erythrocyte membrane protein band 4.1 |
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IAGP |
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HPO |
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ORPHA:288 |
NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046
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EPB41L1 |
erythrocyte membrane protein band 4.1 like 1 |
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IAGP |
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HPO |
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OMIM:614257 |
NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERF |
ETS2 repressor factor |
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IAGP |
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HPO |
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ORPHA:207 ORPHA:35093 |
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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OMIM:620663 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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ORPHA:508533 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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FAM149B1 |
family with sequence similarity 149 member B1 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
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FANCA |
FA complementation group A |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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FANCB |
FA complementation group B |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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FANCC |
FA complementation group C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FANCE |
FA complementation group E |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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FANCF |
FA complementation group F |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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G |
FANCG |
FA complementation group G |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
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FANCI |
FA complementation group I |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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FANCL |
FA complementation group L |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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FANCM |
FA complementation group M |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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G |
FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:2462 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FBN2 |
fibrillin 2 |
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IAGP |
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HPO |
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OMIM:121050 |
NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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OMIM:166250 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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OMIM:123500 OMIM:207410 ORPHA:1540 ORPHA:207 ORPHA:87 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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OMIM:100800 OMIM:146000 OMIM:187600 OMIM:187601 OMIM:616482 ORPHA:15 ORPHA:1860 ORPHA:93262 ORPHA:93274 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FH |
fumarate hydratase |
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IAGP |
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HPO |
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OMIM:606812 |
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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IAGP |
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HPO |
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ORPHA:2308 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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FLII |
FLII actin remodeling protein |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
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FLNA |
filamin A |
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IAGP |
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HPO |
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OMIM:304120 OMIM:311300 ORPHA:2484 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FLNB |
filamin B |
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IAGP |
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HPO |
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OMIM:108720 OMIM:108721 OMIM:150250 OMIM:272460 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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FMR1 |
fragile X messenger ribonucleoprotein 1 |
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IAGP |
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HPO |
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ORPHA:908 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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FUCA1 |
alpha-L-fucosidase 1 |
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IAGP |
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HPO |
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OMIM:230000 |
NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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OMIM:164745 ORPHA:3107 ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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GATAD2B |
GATA zinc finger domain containing 2B |
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IAGP |
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HPO |
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ORPHA:363686 |
NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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OMIM:257850 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GJA5 |
gap junction protein alpha 5 |
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IAGP |
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HPO |
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OMIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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G |
GJA8 |
gap junction protein alpha 8 |
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IAGP |
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HPO |
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OMIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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G |
GK |
glycerol kinase |
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IAGP |
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HPO |
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OMIM:307030 |
NCBI chr X:30,653,423...30,731,462
Ensembl chr X:30,653,359...30,731,462
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G |
GLB1 |
galactosidase beta 1 |
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IAGP |
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HPO |
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OMIM:230500 ORPHA:79255 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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OMIM:175700 ORPHA:380 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
GMNN |
geminin DNA replication inhibitor |
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IAGP |
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HPO |
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OMIM:616835 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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OMIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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IAGP |
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HPO |
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OMIM:269921 |
NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
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G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
ClinVar Annotator: match by term: Frontal bossing |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
OMIM:252940 |
NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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G |
GPC6 |
glypican 6 |
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IAGP |
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HPO |
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OMIM:258315 ORPHA:93329 |
NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
GRB10 |
growth factor receptor bound protein 10 |
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IAGP |
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HPO |
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ORPHA:96182 |
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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OMIM:617820 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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G |
GYPC |
glycophorin C (Gerbich blood group) |
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IAGP |
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HPO |
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ORPHA:288 |
NCBI chr 2:126,656,158...126,696,667
Ensembl chr 2:126,656,133...126,696,667
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G |
H19-ICR |
H19/IGF2 imprinting control region |
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IAGP |
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HPO |
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OMIM:180860 |
NCBI chr11:1,998,202...2,003,509
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G |
H3-3A |
H3.3 histone A |
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IAGP |
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HPO |
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OMIM:619720 |
NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
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G |
H3-3B |
H3.3 histone B |
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IAGP |
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HPO |
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OMIM:619721 |
NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893
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G |
HBA1 |
hemoglobin subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:98791 |
NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
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HBA2 |
hemoglobin subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:98791 |
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
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HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:231214 ORPHA:231226 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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HDAC4 |
histone deacetylase 4 |
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IAGP |
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HPO |
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ORPHA:1001 |
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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HDAC6 |
histone deacetylase 6 |
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IAGP |
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HPO |
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OMIM:300863 ORPHA:163966 |
NCBI chr X:48,801,398...48,824,982
Ensembl chr X:48,801,377...48,824,982
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HECTD4 |
HECT domain E3 ubiquitin protein ligase 4 |
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IAGP |
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HPO |
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OMIM:620250 |
NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
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HEPACAM |
hepatic and glial cell adhesion molecule |
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IAGP |
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HPO |
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ORPHA:210548 |
NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412
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HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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IAGP |
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HPO |
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OMIM:617011 |
NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
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HK1 |
hexokinase 1 |
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IAGP |
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HPO |
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OMIM:618547 |
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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HMGA2 |
high mobility group AT-hook 2 |
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IAGP |
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HPO |
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ORPHA:397590 ORPHA:94063 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
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HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
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IAGP |
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HPO |
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ORPHA:238769 |
NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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ORPHA:93387 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:2612 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
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IAGP |
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HPO |
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OMIM:261515 |
NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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IDUA |
alpha-L-iduronidase |
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IAGP |
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HPO |
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OMIM:607014 ORPHA:93473 |
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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OMIM:218330 ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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OMIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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OMIM:614099 ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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IFT56 |
intraflagellar transport 56 |
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IAGP |
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HPO |
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OMIM:619534 |
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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IFT80 |
intraflagellar transport 80 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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OMIM:180860 OMIM:616489 ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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OMIM:300291 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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IL11RA |
interleukin 11 receptor subunit alpha |
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IAGP |
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HPO |
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OMIM:614188 |
NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
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INPPL1 |
inositol polyphosphate phosphatase like 1 |
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IAGP |
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HPO |
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OMIM:258480 ORPHA:2746 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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INTS1 |
integrator complex subunit 1 |
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IAGP |
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HPO |
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OMIM:618571 |
NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389
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INTU |
inturned planar cell polarity protein |
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IAGP |
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HPO |
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OMIM:617925 |
NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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IPO8 |
importin 8 |
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IAGP |
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HPO |
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OMIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
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IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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ITCH |
itchy E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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OMIM:613385 ORPHA:228426 |
NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
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JAG1 |
jagged canonical Notch ligand 1 |
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IAGP |
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HPO |
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OMIM:118450 |
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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JARID2 |
jumonji and AT-rich interaction domain containing 2 |
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IAGP |
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HPO |
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OMIM:620098 |
NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042
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KAT6A |
lysine acetyltransferase 6A |
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IAGP |
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HPO |
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OMIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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KATNIP |
katanin interacting protein |
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IAGP |
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HPO |
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OMIM:616784 |
NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
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KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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KCNJ1 |
potassium inwardly rectifying channel subfamily J member 1 |
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IAGP |
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HPO |
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OMIM:241200 |
NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
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KCTD1 |
potassium channel tetramerization domain containing 1 |
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IAGP |
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HPO |
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OMIM:181270 |
NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
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KDM1A |
lysine demethylase 1A |
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IAGP |
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HPO |
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OMIM:616728 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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KIAA0586 |
KIAA0586 |
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IAGP |
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HPO |
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ORPHA:397715 |
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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OMIM:619476 OMIM:619479 ORPHA:2754 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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KIDINS220 |
kinase D interacting substrate 220 |
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IAGP |
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HPO |
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OMIM:617296 |
NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
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KIF7 |
kinesin family member 7 |
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IAGP |
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HPO |
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OMIM:200990 OMIM:607131 ORPHA:166024 ORPHA:2754 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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KLF1 |
KLF transcription factor 1 |
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IAGP |
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HPO |
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OMIM:613673 |
NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
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KMT2B |
lysine methyltransferase 2B |
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IAGP |
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HPO |
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OMIM:619934 |
NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
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KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
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KPTN |
kaptin, actin binding protein |
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IAGP |
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HPO |
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OMIM:615637 ORPHA:397612 |
NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:609942 ORPHA:1340 ORPHA:2612 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KYNU |
kynureninase |
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IAGP |
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HPO |
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OMIM:617661 |
NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833
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LARS1 |
leucyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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OMIM:615438 |
NCBI chr 5:146,113,034...146,182,650
Ensembl chr 5:146,110,566...146,182,696
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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OMIM:169400 OMIM:618019 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LEMD3 |
LEM domain containing 3 |
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IAGP |
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HPO |
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ORPHA:94063 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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LIFR |
LIF receptor subunit alpha |
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IAGP |
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HPO |
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OMIM:601559 |
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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LRP4 |
LDL receptor related protein 4 |
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IAGP |
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HPO |
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OMIM:614305 ORPHA:3258 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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ORPHA:2788 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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LUZP1 |
leucine zipper protein 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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LYN |
LYN proto-oncogene, Src family tyrosine kinase |
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IAGP |
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HPO |
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OMIM:620376 |
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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MAD2L2 |
mitotic arrest deficient 2 like 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
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MADD |
MAP kinase activating death domain |
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IAGP |
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HPO |
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OMIM:619005 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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OMIM:615547 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAN1B1 |
mannosidase alpha class 1B member 1 |
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IAGP |
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HPO |
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ORPHA:397941 |
NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189
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MAN2B1 |
mannosidase alpha class 2B member 1 |
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IAGP |
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HPO |
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OMIM:248500 |
NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742
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MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
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HPO |
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ORPHA:1340 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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MAP2K2 |
mitogen-activated protein kinase kinase 2 |
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IAGP |
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HPO |
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ORPHA:1340 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
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HPO |
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OMIM:156200 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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ORPHA:2273 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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OMIM:305450 OMIM:309520 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MED13L |
mediator complex subunit 13L |
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IAGP |
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HPO |
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OMIM:616789 |
NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
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MED27 |
mediator complex subunit 27 |
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IAGP |
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HPO |
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OMIM:619286 |
NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867
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MEG3 |
maternally expressed 3 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
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MEGF8 |
multiple EGF like domains 8 |
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IAGP |
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HPO |
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OMIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
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MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:99725 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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MID1 |
midline 1 |
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IAGP |
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HPO |
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OMIM:300000 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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MITF |
melanocyte inducing transcription factor |
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IAGP |
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HPO |
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OMIM:617306 |
NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
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MMP2 |
matrix metallopeptidase 2 |
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IAGP |
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HPO |
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OMIM:259600 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP23B |
matrix metallopeptidase 23B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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G |
MOCS1 |
molybdenum cofactor synthesis 1 |
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IAGP |
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HPO |
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OMIM:252150 |
NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551
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MOCS2 |
molybdenum cofactor synthesis 2 |
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IAGP |
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HPO |
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OMIM:252160 |
NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063
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MPDZ |
multiple PDZ domain crumbs cell polarity complex component |
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IAGP |
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HPO |
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OMIM:615219 |
NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692
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MSX2 |
msh homeobox 2 |
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IAGP |
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HPO |
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OMIM:604757 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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MTOR |
mechanistic target of rapamycin kinase |
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IAGP |
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HPO |
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OMIM:616638 ORPHA:457485 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MTX2 |
metaxin 2 |
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IAGP |
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HPO |
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OMIM:619127 |
NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
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NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
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HPO |
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ORPHA:276432 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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G |
NALCN |
sodium leak channel, non-selective |
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IAGP |
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HPO |
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ORPHA:371364 |
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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G |
NCAPG2 |
non-SMC condensin II complex subunit G2 |
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IAGP |
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HPO |
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OMIM:618460 |
NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,631,169...158,704,804
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NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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NEU1 |
neuraminidase 1 |
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IAGP |
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HPO |
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ORPHA:812 |
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
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G |
NFIA |
nuclear factor I A |
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IAGP |
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HPO |
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ORPHA:401986 |
NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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OMIM:602535 ORPHA:420179 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NFKBIA |
NFKB inhibitor alpha |
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IAGP |
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HPO |
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OMIM:612132 |
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
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HPO |
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OMIM:607115 ORPHA:1451 |
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NONO |
non-POU domain containing octamer binding |
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IAGP |
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HPO |
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OMIM:300967 ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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NPR2 |
natriuretic peptide receptor 2 |
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IAGP |
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HPO |
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OMIM:602875 ORPHA:40 |
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:2612 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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NSD1 |
nuclear receptor binding SET domain protein 1 |
severity |
IAGP |
associated with Sotos Syndrome;DNA:mutations:cds: |
HPO RGD |
PMID:15452385 |
OMIM:117550, RGD:11570546 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NTNG2 |
netrin G2 |
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IAGP |
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HPO |
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OMIM:618718 |
NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526
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NXN |
nucleoredoxin |
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IAGP |
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HPO |
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OMIM:618529 ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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OBSL1 |
obscurin like cytoskeletal adaptor 1 |
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IAGP |
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HPO |
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OMIM:612921 ORPHA:2616 |
NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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OMIM:300804 OMIM:311200 ORPHA:2750 ORPHA:2754 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OPHN1 |
oligophrenin 1 |
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IAGP |
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HPO |
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OMIM:300486 |
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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ORC1 |
origin recognition complex subunit 1 |
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IAGP |
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HPO |
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OMIM:224690 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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OSGEP |
O-sialoglycoprotein endopeptidase |
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IAGP |
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HPO |
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OMIM:617729 |
NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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OMIM:112240 ORPHA:2050 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:217385 |
NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615
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PAK1 |
p21 (RAC1) activated kinase 1 |
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IAGP |
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HPO |
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OMIM:618158 |
NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635
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PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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PAM16 |
presequence translocase associated motor 16 |
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IAGP |
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HPO |
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OMIM:613320 |
NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607
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PCGF2 |
polycomb group ring finger 2 |
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IAGP |
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HPO |
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OMIM:618371 |
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
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PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:439822 ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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PDE6D |
phosphodiesterase 6D |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
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PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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OMIM:601812 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PDHA1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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IAGP |
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HPO |
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OMIM:312170 |
NCBI chr X:19,343,927...19,361,718
Ensembl chr X:19,343,893...19,361,718
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PDPN |
podoplanin |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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OMIM:202370 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PEX7 |
peroxisomal biogenesis factor 7 |
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IAGP |
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HPO |
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OMIM:215100 |
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
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PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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OMIM:307800 ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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OMIM:280000 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
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IAGP |
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HPO |
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OMIM:614080 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:60040 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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OMIM:269880 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PIK3R2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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IAGP |
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HPO |
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OMIM:603387 |
NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
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G |
PLA2G6 |
phospholipase A2 group VI |
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IAGP |
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HPO |
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OMIM:256600 |
NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
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G |
PLAG1 |
PLAG1 zinc finger |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
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PLCH1 |
phospholipase C eta 1 |
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IAGP |
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HPO |
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OMIM:619895 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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ORPHA:3363 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
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HPO |
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OMIM:618336 ORPHA:85173 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
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G |
POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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OMIM:264090 ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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OMIM:201750 OMIM:207410 ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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OMIM:613038 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PPM1B |
protein phosphatase, Mg2+/Mn2+ dependent 1B |
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IAGP |
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HPO |
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ORPHA:163693 |
NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384
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G |
PPP1CB |
protein phosphatase 1 catalytic subunit beta |
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IAGP |
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HPO |
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OMIM:617506 |
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
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G |
PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
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IAGP |
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HPO |
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OMIM:618354 |
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073
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G |
PPP2R5D |
protein phosphatase 2 regulatory subunit B'delta |
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IAGP |
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HPO |
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ORPHA:457279 |
NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
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G |
PRDM16 |
PR/SET domain 16 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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G |
PREPL |
prolyl endopeptidase like |
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IAGP |
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HPO |
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ORPHA:163690 ORPHA:163693 |
NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
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PRIM1 |
DNA primase subunit 1 |
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IAGP |
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HPO |
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OMIM:620005 |
NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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PRKCZ |
protein kinase C zeta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PRKD1 |
protein kinase D1 |
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IAGP |
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HPO |
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OMIM:617364 |
NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898
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PRMT7 |
protein arginine methyltransferase 7 |
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IAGP |
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HPO |
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OMIM:617157 |
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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PTCH1 |
patched 1 |
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IAGP |
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HPO |
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OMIM:109400 OMIM:610828 ORPHA:377 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTCH2 |
patched 2 |
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IAGP |
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HPO |
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ORPHA:377 |
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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OMIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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OMIM:605309 ORPHA:109 ORPHA:210548 ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTHLH |
parathyroid hormone like hormone |
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IAGP |
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HPO |
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ORPHA:93387 |
NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
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PURA |
purine rich element binding protein A |
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IAGP |
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HPO |
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ORPHA:438216 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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PYCR1 |
pyrroline-5-carboxylate reductase 1 |
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IAGP |
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HPO |
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OMIM:612940 |
NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
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RAB39B |
RAB39B, member RAS oncogene family |
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IAGP |
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HPO |
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OMIM:311510 ORPHA:2379 |
NCBI chr X:155,258,235...155,264,491
Ensembl chr X:155,258,235...155,264,491
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RAD51 |
RAD51 recombinase |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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RAD51C |
RAD51 paralog C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
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G |
RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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G |
RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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OMIM:268400 ORPHA:1225 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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OMIM:616975 ORPHA:1606 ORPHA:494344 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RFWD3 |
ring finger and WD repeat domain 3 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
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G |
RFX7 |
regulatory factor X7 |
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IAGP |
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HPO |
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OMIM:620330 |
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
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G |
RNPC3 |
RNA binding region (RNP1, RRM) containing 3 |
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IAGP |
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HPO |
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OMIM:618160 |
NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239
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G |
RNU12 |
RNA, U12 small nuclear |
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IAGP |
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HPO |
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OMIM:603116 ORPHA:85199 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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OMIM:268310 ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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G |
RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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ORPHA:192 ORPHA:276630 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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G |
RSPRY1 |
ring finger and SPRY domain containing 1 |
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IAGP |
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HPO |
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OMIM:616723 ORPHA:457395 |
NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
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G |
RTL1 |
retrotransposon Gag like 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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G |
RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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OMIM:119600 ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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G |
SALL4 |
spalt like transcription factor 4 |
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IAGP |
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HPO |
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OMIM:147750 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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G |
SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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OMIM:612313 ORPHA:251028 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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OMIM:620351 OMIM:620369 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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G |
SCNM1 |
sodium channel modifier 1 |
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IAGP |
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HPO |
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OMIM:620107 |
NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
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G |
SEC23A |
SEC23 homolog A, COPII coat complex component |
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IAGP |
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HPO |
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OMIM:607812 ORPHA:50814 |
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
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SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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OMIM:616294 ORPHA:2050 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SETBP1 |
SET binding protein 1 |
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IAGP |
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HPO |
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OMIM:616078 ORPHA:798 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SIK3 |
SIK family kinase 3 |
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IAGP |
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HPO |
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OMIM:618162 |
NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437
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SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
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OMIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SIX2 |
SIX homeobox 2 |
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IAGP |
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HPO |
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ORPHA:488437 |
NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452
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SIX6 |
SIX homeobox 6 |
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IAGP |
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HPO |
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OMIM:206900 |
NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
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SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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OMIM:182212 ORPHA:1606 ORPHA:2462 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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SKIC3 |
SKI3 subunit of superkiller complex |
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IAGP |
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HPO |
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OMIM:222470 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:93298 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SLC34A3 |
solute carrier family 34 member 3 |
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IAGP |
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HPO |
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OMIM:241530 |
NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
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SLC39A13 |
solute carrier family 39 member 13 |
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IAGP |
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HPO |
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OMIM:612350 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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SLC3A1 |
solute carrier family 3 member 1 |
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IAGP |
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HPO |
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ORPHA:163690 ORPHA:163693 |
NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494
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SLX4 |
SLX4 structure-specific endonuclease subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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IAGP |
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HPO |
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OMIM:619293 |
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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SMARCD1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
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IAGP |
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HPO |
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OMIM:618779 |
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
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SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
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HPO |
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OMIM:610759 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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SMC5 |
structural maintenance of chromosomes 5 |
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IAGP |
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HPO |
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OMIM:620185 |
NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873
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SMG8 |
SMG8 nonsense mediated mRNA decay factor |
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IAGP |
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HPO |
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OMIM:619268 |
NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239
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SMOC1 |
SPARC related modular calcium binding 1 |
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IAGP |
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HPO |
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OMIM:206920 ORPHA:1106 |
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
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SNX10 |
sorting nexin 10 |
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IAGP |
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HPO |
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OMIM:615085 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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SNX14 |
sorting nexin 14 |
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IAGP |
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HPO |
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ORPHA:397709 |
NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
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SON |
SON DNA and RNA binding protein |
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IAGP |
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HPO |
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OMIM:617140 ORPHA:500150 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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SOST |
sclerostin |
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IAGP |
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HPO |
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OMIM:269500 ORPHA:1513 |
NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791
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SOX2 |
SRY-box transcription factor 2 |
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IAGP |
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HPO |
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OMIM:206900 |
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SOX5 |
SRY-box transcription factor 5 |
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IAGP |
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HPO |
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OMIM:616803 ORPHA:313892 |
NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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OMIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SP7 |
Sp7 transcription factor |
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IAGP |
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HPO |
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ORPHA:1513 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
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IAGP |
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HPO |
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OMIM:145420 |
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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OMIM:619312 ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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SPOP |
speckle type BTB/POZ protein |
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IAGP |
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HPO |
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OMIM:618829 |
NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
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SPRTN |
SprT-like N-terminal domain |
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IAGP |
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HPO |
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OMIM:616200 |
NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
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SPTA1 |
spectrin alpha, erythrocytic 1 |
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IAGP |
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HPO |
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ORPHA:288 |
NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715
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SPTB |
spectrin beta, erythrocytic |
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IAGP |
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HPO |
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ORPHA:288 |
NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907
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STAG2 |
STAG2 cohesin complex component |
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IAGP |
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HPO |
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OMIM:301022 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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OMIM:147060 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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OMIM:617757 OMIM:620343 ORPHA:377 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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SUPT16H |
SPT16 homolog, facilitates chromatin remodeling subunit |
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IAGP |
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HPO |
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OMIM:619480 |
NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
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ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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TBCD |
tubulin folding cofactor D |
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IAGP |
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HPO |
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OMIM:617193 |
NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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OMIM:241410 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBX15 |
T-box transcription factor 15 |
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IAGP |
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HPO |
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OMIM:260660 ORPHA:93333 |
NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
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TBX4 |
T-box transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:261279 |
NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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TCF20 |
transcription factor 20 |
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IAGP |
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HPO |
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OMIM:618430 |
NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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OMIM:259700 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TCTN3 |
tectonic family member 3 |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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ORPHA:1328 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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THUMPD1 |
THUMP domain containing 1 |
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IAGP |
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HPO |
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OMIM:619989 |
NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084
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TIMM50 |
translocase of inner mitochondrial membrane 50 |
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IAGP |
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HPO |
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OMIM:617698 |
NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
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TMEM216 |
transmembrane protein 216 |
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IAGP |
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HPO |
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OMIM:608091 ORPHA:2754 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
ClinVar Annotator: match by term: Frontal bossing |
ClinVar |
PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 PMID:34441032 More...
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NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
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IAGP |
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HPO |
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OMIM:619185 |
NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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OMIM:271510 ORPHA:93357 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
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IAGP |
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HPO |
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ORPHA:2754 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
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TRIM37 |
tripartite motif containing 37 |
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IAGP |
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HPO |
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OMIM:253250 |
NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
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TRIO |
trio Rho guanine nucleotide exchange factor |
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IAGP |
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HPO |
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OMIM:618825 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
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HPO |
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ORPHA:166272 ORPHA:93299 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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TRIP13 |
thyroid hormone receptor interactor 13 |
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IAGP |
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HPO |
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ORPHA:1052 |
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
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HPO |
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ORPHA:77258 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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TRPV6 |
transient receptor potential cation channel subfamily V member 6 |
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IAGP |
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HPO |
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OMIM:618188 |
NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
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TWIST1 |
twist family bHLH transcription factor 1 |
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IAGP |
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HPO |
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OMIM:123100 ORPHA:35093 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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UBE2T |
ubiquitin conjugating enzyme E2 T |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
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UBE4B |
ubiquitination factor E4B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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UGP2 |
UDP-glucose pyrophosphorylase 2 |
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IAGP |
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HPO |
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OMIM:618744 |
NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562
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UNC80 |
unc-80 homolog, NALCN channel complex subunit |
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IAGP |
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HPO |
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OMIM:616801 ORPHA:371364 |
NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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OMIM:604173 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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VDR |
vitamin D receptor |
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IAGP |
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HPO |
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OMIM:277440 ORPHA:93160 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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WASHC5 |
WASH complex subunit 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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OMIM:614378 ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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OMIM:613610 ORPHA:1515 ORPHA:93271 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WNT5A |
Wnt family member 5A |
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IAGP |
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HPO |
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OMIM:180700 ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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OMIM:616211 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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G |
XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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G |
YWHAE |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
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IAGP |
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HPO |
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ORPHA:217385 |
NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZNF148 |
zinc finger protein 148 |
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IAGP |
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HPO |
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OMIM:617260 |
NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325
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Term paths to the root
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