Term: | Downslanted palpebral fissures |
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Accession: | HP:0000494
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browse the term
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Definition: | The palpebral fissure inclination is more than two standard deviations below the mean. |
Synonyms: | exact_synonym: | Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward-slanting palpebral fissures |
| alt_id: | HP:0007714; HP:0007908 |
| xref: | SNOMEDCT_US:246800008; UMLS:C0423110 |
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AARS1 |
alanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ABAT |
4-aminobutyrate aminotransferase |
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IAGP |
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HPO |
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OMIM:613163 |
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ABCA5 |
ATP binding cassette subfamily A member 5 |
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IAGP |
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HPO |
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OMIM:135400 |
NCBI chr17:69,244,311...69,327,133
Ensembl chr17:69,244,311...69,327,244
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ACSL4 |
acyl-CoA synthetase long chain family member 4 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:109,641,335...109,733,257
Ensembl chr X:109,624,244...109,733,403
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ACTB |
actin beta |
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IAGP |
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HPO |
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ORPHA:2995 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ACTG1 |
actin gamma 1 |
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IAGP |
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HPO |
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ORPHA:2995 |
NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
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ACTL6B |
actin like 6B |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
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ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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OMIM:225410 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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OMIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AFF4 |
ALF transcription elongation factor 4 |
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IAGP |
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HPO |
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ORPHA:444077 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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AFG2B |
AFG2 AAA ATPase homolog B |
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IAGP |
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HPO |
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OMIM:619616 |
NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415
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AGO1 |
argonaute RISC component 1 |
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IAGP |
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HPO |
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OMIM:620292 |
NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532
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AHDC1 |
AT-hook DNA binding motif containing 1 |
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IAGP |
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HPO |
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OMIM:615829 ORPHA:412069 |
NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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OMIM:176920 ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
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IAGP |
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HPO |
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OMIM:620025 |
NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
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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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ALG2 |
ALG2 alpha-1,3/1,6-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79326 |
NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
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AMMECR1 |
AMMECR nuclear protein 1 |
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IAGP |
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HPO |
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OMIM:300990 ORPHA:86818 |
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
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AMPD2 |
adenosine monophosphate deaminase 2 |
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IAGP |
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HPO |
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OMIM:615809 |
NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
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ANKRD11 |
ankyrin repeat domain containing 11 |
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IAGP |
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HPO |
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OMIM:148050 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
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AP3B2 |
adaptor related protein complex 3 subunit beta 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
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AP4E1 |
adaptor related protein complex 4 subunit epsilon 1 |
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IAGP |
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HPO |
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OMIM:613744 |
NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
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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:261584 ORPHA:3258 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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ARCN1 |
archain 1 |
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IAGP |
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HPO |
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OMIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
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ARHGEF2 |
Rho/Rac guanine nucleotide exchange factor 2 |
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IAGP |
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HPO |
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OMIM:617523 |
NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070
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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 ORPHA:251056 |
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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ARL6 |
ADP ribosylation factor like GTPase 6 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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ARV1 |
ARV1 homolog, fatty acid homeostasis modulator |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733
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ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ASPH |
aspartate beta-hydroxylase |
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IAGP |
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HPO |
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OMIM:601552 |
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
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ASXL3 |
ASXL transcriptional regulator 3 |
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IAGP |
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HPO |
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OMIM:615485 ORPHA:352577 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
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ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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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 OMIM:278250 ORPHA:2834 ORPHA:357074 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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OMIM:617403 ORPHA:357074 ORPHA:442835 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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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:3473 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
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IAGP |
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HPO |
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ORPHA:357074 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:198 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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ATR |
ATR serine/threonine kinase |
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IAGP |
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HPO |
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OMIM:210600 ORPHA:808 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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ATRIP |
ATR interacting protein |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
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AUTS2 |
activator of transcription and developmental regulator AUTS2 |
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IAGP |
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HPO |
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OMIM:615834 |
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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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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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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BBIP1 |
BBSome interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Downward slanting palpebral fissures |
ClinVar HPO |
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ORPHA:110 |
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
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BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BBS10 |
Bardet-Biedl syndrome 10 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
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BBS12 |
Bardet-Biedl syndrome 12 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
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BBS2 |
Bardet-Biedl syndrome 2 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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BBS4 |
Bardet-Biedl syndrome 4 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
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BBS5 |
Bardet-Biedl syndrome 5 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
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BBS7 |
Bardet-Biedl syndrome 7 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
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BBS9 |
Bardet-Biedl syndrome 9 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
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BCL11A |
BCL11 transcription factor A |
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IAGP |
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HPO |
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OMIM:617101 |
NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
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BCORL1 |
BCL6 corepressor like 1 |
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IAGP |
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HPO |
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OMIM:301029 |
NCBI chr X:129,980,313...130,058,071
Ensembl chr X:129,981,107...130,058,071
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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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BMP2 |
bone morphogenetic protein 2 |
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IAGP |
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HPO |
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OMIM:617877 ORPHA:261295 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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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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BPTF |
bromodomain PHD finger transcription factor |
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IAGP |
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HPO |
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ORPHA:529962 |
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Downward slanting palpebral fissures |
ClinVar HPO |
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
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OMIM:115150 OMIM:163950 OMIM:613706 OMIM:613707 ORPHA:1340 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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OMIM:620568 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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BRPF1 |
bromodomain and PHD finger containing 1 |
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IAGP |
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HPO |
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OMIM:617333 |
NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019
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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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CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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CACNA1B |
calcium voltage-gated channel subunit alpha1 B |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624
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CACNA2D1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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IAGP |
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HPO |
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OMIM:617798 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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CAMTA1 |
calmodulin binding transcription activator 1 |
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IAGP |
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HPO |
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OMIM:614756 |
NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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OMIM:300749 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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OMIM:613563 ORPHA:648 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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CCDC115 |
coiled-coil domain containing 115 |
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IAGP |
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HPO |
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OMIM:616828 |
NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699
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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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CDC42 |
cell division cycle 42 |
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IAGP |
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HPO |
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OMIM:616737 ORPHA:487796 |
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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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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CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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OMIM:211380 ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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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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CDK10 |
cyclin dependent kinase 10 |
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IAGP |
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HPO |
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OMIM:617694 |
NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354
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CDK19 |
cyclin dependent kinase 19 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958
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CELF2 |
CUGBP Elav-like family member 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675
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CENPE |
centromere protein E |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
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CENPJ |
centromere protein J |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889
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CENPT |
centromere protein T |
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IAGP |
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HPO |
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OMIM:618702 |
NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811
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CEP152 |
centrosomal protein 152 |
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IAGP |
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HPO |
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OMIM:613823 ORPHA:808 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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CEP19 |
centrosomal protein 19 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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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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CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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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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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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OMIM:214800 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CHD8 |
chromodomain helicase DNA binding protein 8 |
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IAGP |
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HPO |
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OMIM:615032 |
NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126
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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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CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
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HPO |
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OMIM:265000 ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
DNA:missense mutations, deletion:CDS:multiple DNA:frameshift mutations, missense mutations:CDS:multiple |
HPO RGD |
PMID:20004762 PMID:26373698 |
OMIM:601776 ORPHA:2953, RGD:155663488, RGD:11061906 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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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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CLCN4 |
chloride voltage-gated channel 4 |
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IAGP |
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HPO |
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OMIM:300114 |
NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660
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CLTC |
clathrin heavy chain |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956
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CNKSR2 |
connector enhancer of kinase suppressor of Ras 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr X:21,374,418...21,654,689
Ensembl chr X:21,372,801...21,654,695
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CNTNAP2 |
contactin associated protein 2 |
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IAGP |
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HPO |
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ORPHA:163681 |
NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
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COG1 |
component of oligomeric golgi complex 1 |
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IAGP |
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HPO |
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OMIM:611209 ORPHA:263508 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
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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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ORPHA:2021 |
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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ORPHA:2021 |
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 |
ClinVar Annotator: match by term: Downward slanting palpebral fissures |
ClinVar |
PMID:8364588 PMID:25741868 |
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NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL4A5 |
collagen type IV alpha 5 chain |
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IAGP |
ClinVar Annotator: match by term: Downslanted palpebral fissures |
ClinVar |
PMID:25741868 |
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NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545
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COL5A1 |
collagen type V alpha 1 chain |
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IAGP |
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HPO |
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OMIM:619329 |
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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COL9A3 |
collagen type IX alpha 3 chain |
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IAGP |
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HPO |
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OMIM:620022 |
NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
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COLEC10 |
collectin subfamily member 10 |
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IAGP |
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HPO |
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ORPHA:293843 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
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COLEC11 |
collectin subfamily member 11 |
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IAGP |
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HPO |
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OMIM:265050 ORPHA:293843 |
NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
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COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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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 |
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HPO |
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OMIM:180849 OMIM:618332 ORPHA:353277 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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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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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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CTNND2 |
catenin delta 2 |
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IAGP |
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HPO |
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ORPHA:281 |
NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
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CUL4B |
cullin 4B |
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IAGP |
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HPO |
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ORPHA:85293 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
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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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CYFIP2 |
cytoplasmic FMR1 interacting protein 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595
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DALRD3 |
DALR anticodon binding domain containing 3 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293
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DBR1 |
debranching RNA lariats 1 |
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IAGP |
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HPO |
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OMIM:620510 |
NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949
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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 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
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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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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
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DHDDS |
dehydrodolichyl diphosphate synthase subunit |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
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DHODH |
dihydroorotate dehydrogenase (quinone) |
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IAGP |
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HPO |
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OMIM:263750 ORPHA:246 |
NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
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DHX30 |
DExH-box helicase 30 |
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IAGP |
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HPO |
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OMIM:617804 |
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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OMIM:618663 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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DNA2 |
DNA replication helicase/nuclease 2 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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OMIM:617052 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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DNM1 |
dynamin 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
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DOCK3 |
dedicator of cytokinesis 3 |
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IAGP |
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HPO |
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OMIM:618292 |
NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198
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DOK7 |
docking protein 7 |
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IAGP |
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HPO |
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OMIM:618389 |
NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
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DPF2 |
double PHD fingers 2 |
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IAGP |
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HPO |
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OMIM:618027 |
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPH1 |
diphthamide biosynthesis 1 |
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IAGP |
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HPO |
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OMIM:616901 ORPHA:459061 |
NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898
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DPH2 |
diphthamide biosynthesis 2 |
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IAGP |
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HPO |
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ORPHA:459061 |
NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
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DPM1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
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IAGP |
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HPO |
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OMIM:608799 ORPHA:79322 |
NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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OMIM:620331 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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DPYD |
dihydropyrimidine dehydrogenase |
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IAGP |
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HPO |
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ORPHA:1675 |
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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OMIM:619435 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 ORPHA:2953 |
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 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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ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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IAGP |
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HPO |
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OMIM:614563 |
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
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DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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OMIM:617088 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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EBF3 |
EBF transcription factor 3 |
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IAGP |
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HPO |
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OMIM:617330 |
NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
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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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EDEM3 |
ER degradation enhancing alpha-mannosidase like protein 3 |
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IAGP |
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HPO |
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OMIM:619493 |
NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907
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EED |
embryonic ectoderm development |
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IAGP |
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HPO |
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OMIM:617561 ORPHA:3447 |
NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813
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EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
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IAGP |
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HPO |
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OMIM:616393 ORPHA:442835 |
NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
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EFEMP2 |
EGF containing fibulin extracellular matrix protein 2 |
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IAGP |
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HPO |
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OMIM:614437 ORPHA:90349 |
NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
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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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EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
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IAGP |
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HPO |
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OMIM:610536 |
NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
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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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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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OMIM:180849 OMIM:613684 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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OMIM:268300 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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OMIM:277590 ORPHA:3447 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FAM20C |
FAM20C golgi associated secretory pathway kinase |
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IAGP |
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HPO |
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OMIM:259775 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
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FBLN5 |
fibulin 5 |
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IAGP |
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HPO |
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ORPHA:90349 |
NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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OMIM:154700 OMIM:616914 ORPHA:2462 ORPHA:284979 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FBXL4 |
F-box and leucine rich repeat protein 4 |
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IAGP |
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HPO |
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OMIM:615471 |
NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006
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FBXO11 |
F-box protein 11 |
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IAGP |
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HPO |
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OMIM:618089 |
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
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FBXO28 |
F-box protein 28 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
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FBXO31 |
F-box protein 31 |
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IAGP |
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HPO |
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OMIM:615979 |
NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142
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FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
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IAGP |
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HPO |
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OMIM:305400 ORPHA:915 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
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FGF12 |
fibroblast growth factor 12 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
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FGF13 |
fibroblast growth factor 13 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr X:138,614,727...139,205,023
Ensembl chr X:138,614,727...139,222,777
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FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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OMIM:610706 ORPHA:90024 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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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:101600 OMIM:166250 ORPHA:2117 |
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 |
ClinVar Annotator: match by term: Downslanted palpebral fissures |
ClinVar HPO |
PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 PMID:23754559 PMID:25271085 PMID:25741868 PMID:27228464 PMID:27683237 PMID:28492532 More...
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OMIM:101200 OMIM:101600 OMIM:123790 OMIM:149730 ORPHA:1555 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:602849 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FHL1 |
four and a half LIM domains 1 |
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IAGP |
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HPO |
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OMIM:300280 |
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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FIBP |
FGF1 intracellular binding protein |
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IAGP |
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HPO |
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OMIM:617107 ORPHA:500095 |
NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
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FLCN |
folliculin |
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IAGP |
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HPO |
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OMIM:610883 |
NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
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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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FLNA |
filamin A |
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IAGP |
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HPO |
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OMIM:300048 OMIM:304120 OMIM:305620 OMIM:311300 ORPHA:1826 ORPHA:90650 ORPHA:90652 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FOXG1 |
forkhead box G1 |
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IAGP |
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HPO |
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ORPHA:261144 ORPHA:442835 |
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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FOXP1 |
forkhead box P1 |
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IAGP |
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HPO |
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OMIM:613670 ORPHA:391372 |
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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FREM1 |
FRAS1 related extracellular matrix 1 |
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IAGP |
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HPO |
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OMIM:614485 |
NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995
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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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FZR1 |
fizzy and cell division cycle 20 related 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334
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GABBR2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935
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GABRA2 |
gamma-aminobutyric acid type A receptor subunit alpha2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230
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GABRA5 |
gamma-aminobutyric acid type A receptor subunit alpha5 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
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GABRB2 |
gamma-aminobutyric acid type A receptor subunit beta2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044
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GABRG2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GAD1 |
glutamate decarboxylase 1 |
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IAGP |
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HPO |
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OMIM:619124 |
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
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GALNT2 |
polypeptide N-acetylgalactosaminyltransferase 2 |
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IAGP |
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HPO |
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OMIM:618885 |
NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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ORPHA:251071 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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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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GLE1 |
GLE1 RNA export mediator |
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IAGP |
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HPO |
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OMIM:611890 |
NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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OMIM:175700 ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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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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GORAB |
golgin, RAB6 interacting |
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IAGP |
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HPO |
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OMIM:231070 |
NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
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GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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GPC3 |
glypican 3 |
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IAGP |
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HPO |
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OMIM:312870 ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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GPC4 |
glypican 4 |
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IAGP |
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HPO |
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OMIM:312870 ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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GRIN2D |
glutamate ionotropic receptor NMDA type subunit 2D |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931
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GSC |
goosecoid homeobox |
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IAGP |
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HPO |
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OMIM:602471 |
NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113
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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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H4C5 |
H4 clustered histone 5 |
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IAGP |
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HPO |
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OMIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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H4C9 |
H4 clustered histone 9 |
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IAGP |
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HPO |
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OMIM:619951 |
NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678
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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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HCN1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
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HEATR3 |
HEAT repeat containing 3 |
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IAGP |
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HPO |
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OMIM:620072 |
NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
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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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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 ORPHA:457359 |
NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
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HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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HNRNPC |
heterogeneous nuclear ribonucleoprotein C |
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IAGP |
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HPO |
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OMIM:620688 |
NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
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HNRNPH1 |
heterogeneous nuclear ribonucleoprotein H1 |
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IAGP |
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HPO |
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OMIM:620083 |
NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
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HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
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IAGP |
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HPO |
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OMIM:616580 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:218040 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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HS6ST2 |
heparan sulfate 6-O-sulfotransferase 2 |
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IAGP |
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HPO |
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OMIM:301025 |
NCBI chr X:132,626,015...132,961,370
Ensembl chr X:132,626,015...132,961,395
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HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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IAGP |
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HPO |
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OMIM:309590 |
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IFT27 |
intraflagellar transport 27 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
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IFT74 |
intraflagellar transport 74 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
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IGBP1 |
immunoglobulin binding protein 1 |
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IAGP |
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HPO |
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OMIM:300472 ORPHA:52055 |
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
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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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IL6ST |
interleukin 6 cytokine family signal transducer |
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IAGP |
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HPO |
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OMIM:619750 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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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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JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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KAT5 |
lysine acetyltransferase 5 |
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IAGP |
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HPO |
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OMIM:619103 |
NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
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KAT6B |
lysine acetyltransferase 6B |
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IAGP |
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HPO |
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OMIM:606170 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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KCNA2 |
potassium voltage-gated channel subfamily A member 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474
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KCNB1 |
potassium voltage-gated channel subfamily B member 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297
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KCNE5 |
potassium voltage-gated channel subfamily E regulatory subunit 5 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172
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KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
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IAGP |
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HPO |
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ORPHA:3473 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
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IAGP |
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HPO |
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OMIM:618729 ORPHA:3473 |
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
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IAGP |
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HPO |
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ORPHA:3473 |
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
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KDM1A |
lysine demethylase 1A |
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IAGP |
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HPO |
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OMIM:616728 ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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KDM5B |
lysine demethylase 5B |
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IAGP |
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HPO |
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OMIM:618109 |
NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
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KIF11 |
kinesin family member 11 |
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IAGP |
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HPO |
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OMIM:152950 |
NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
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KIF15 |
kinesin family member 15 |
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IAGP |
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HPO |
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OMIM:619981 ORPHA:261323 |
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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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 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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KIFBP |
kinesin family binding protein |
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IAGP |
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HPO |
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OMIM:609460 |
NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
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KMT2A |
lysine methyltransferase 2A |
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IAGP |
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HPO |
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OMIM:605130 |
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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OMIM:620186 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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KMT2E |
lysine methyltransferase 2E (inactive) |
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IAGP |
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HPO |
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OMIM:618512 |
NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
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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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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:609942 ORPHA:1340 ORPHA:648 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KREMEN1 |
kringle containing transmembrane protein 1 |
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IAGP |
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HPO |
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OMIM:617392 |
NCBI chr22:29,073,035...29,168,333
Ensembl chr22:29,073,035...29,168,333
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G |
LDHD |
lactate dehydrogenase D |
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IAGP |
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HPO |
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OMIM:245450 |
NCBI chr16:75,111,864...75,116,780
Ensembl chr16:75,111,860...75,116,780
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G |
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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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:1662 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
LRP2 |
LDL receptor related protein 2 |
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IAGP |
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HPO |
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OMIM:222448 ORPHA:2143 |
NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
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G |
LRP4 |
LDL receptor related protein 4 |
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IAGP |
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HPO |
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OMIM:212780 ORPHA:3258 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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G |
LTBP1 |
latent transforming growth factor beta binding protein 1 |
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IAGP |
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HPO |
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OMIM:619451 ORPHA:90349 |
NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
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LZTFL1 |
leucine zipper transcription factor like 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
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LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human) |
HPO RGD |
PMID:31825158 |
OMIM:605275 OMIM:616564 ORPHA:648, RGD:151708718 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MAF |
MAF bZIP transcription factor |
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IAGP |
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HPO |
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OMIM:601088 ORPHA:1272 |
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
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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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OMIM:614202 ORPHA:397941 |
NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189
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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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OMIM:163950 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 ORPHA:638 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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OMIM:617137 ORPHA:1826 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MAPK1 |
mitogen-activated protein kinase 1 |
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IAGP |
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HPO |
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OMIM:619087 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPRE2 |
microtubule associated protein RP/EB family member 2 |
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IAGP |
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HPO |
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OMIM:616734 |
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
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MASP1 |
MBL associated serine protease 1 |
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IAGP |
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HPO |
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OMIM:257920 ORPHA:293843 |
NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
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G |
MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
ClinVar Annotator: match by term: Downslanted palpebral fissures |
ClinVar |
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27929079 PMID:28492532 PMID:32581362 PMID:34837432 More...
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NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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OMIM:300895 OMIM:305450 ORPHA:93932 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MED12L |
mediator complex subunit 12L |
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IAGP |
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HPO |
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OMIM:618872 |
NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
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MED25 |
mediator complex subunit 25 |
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IAGP |
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HPO |
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OMIM:616449 ORPHA:464738 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
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MGAT2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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IAGP |
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HPO |
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OMIM:212066 ORPHA:79329 |
NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
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MID1 |
midline 1 |
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IAGP |
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HPO |
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ORPHA:2745 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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MKKS |
MKKS centrosomal shuttling protein |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MN1 |
MN1 proto-oncogene, transcriptional regulator |
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IAGP |
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HPO |
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OMIM:618774 |
NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756
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G |
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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MRAS |
muscle RAS oncogene homolog |
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IAGP |
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HPO |
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OMIM:618499 ORPHA:648 |
NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
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MSL3 |
MSL complex subunit 3 |
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IAGP |
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HPO |
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OMIM:301032 |
NCBI chr X:11,758,159...11,775,772
Ensembl chr X:11,758,159...11,775,772
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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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MVK |
mevalonate kinase |
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IAGP |
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HPO |
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OMIM:610377 ORPHA:29 |
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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MYH3 |
myosin heavy chain 3 |
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IAGP |
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HPO |
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OMIM:178110 OMIM:618436 ORPHA:2053 ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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MYMK |
myomaker, myoblast fusion factor |
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IAGP |
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HPO |
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OMIM:254940 ORPHA:1358 |
NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
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MYMX |
myomixer, myoblast fusion factor |
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IAGP |
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HPO |
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ORPHA:1358 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
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MYOD1 |
myogenic differentiation 1 |
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IAGP |
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HPO |
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OMIM:618975 |
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
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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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OMIM:300855 ORPHA:276432 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NAA20 |
N-alpha-acetyltransferase 20, NatB catalytic subunit |
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IAGP |
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HPO |
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OMIM:619717 |
NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655
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NALCN |
sodium leak channel, non-selective |
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IAGP |
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HPO |
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OMIM:616266 ORPHA:2053 ORPHA:371364 ORPHA:562528 |
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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NECAP1 |
NECAP endocytosis associated 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881
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NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NEK9 |
NIMA related kinase 9 |
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IAGP |
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HPO |
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OMIM:617022 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
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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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G |
NEXMIF |
neurite extension and migration factor |
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IAGP |
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HPO |
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OMIM:300912 |
NCBI chr X:74,732,856...74,925,452
Ensembl chr X:74,732,856...74,925,472
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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OMIM:601321 ORPHA:638 ORPHA:97685 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NFIB |
nuclear factor I B |
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IAGP |
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HPO |
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OMIM:618286 |
NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983
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G |
NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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OMIM:614753 ORPHA:420179 ORPHA:447980 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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G |
NONO |
non-POU domain containing octamer binding |
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IAGP |
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HPO |
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ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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NOTCH2 |
notch receptor 2 |
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IAGP |
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HPO |
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OMIM:102500 ORPHA:955 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NOTCH3 |
notch receptor 3 |
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IAGP |
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HPO |
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OMIM:130720 ORPHA:2789 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NOVA2 |
NOVA alternative splicing regulator 2 |
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IAGP |
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HPO |
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OMIM:618859 |
NCBI chr19:45,933,734...45,973,865
Ensembl chr19:45,933,734...45,974,044
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NPHP1 |
nephrocystin 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:613224 ORPHA:648 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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OMIM:117550 ORPHA:3447 ORPHA:821 |
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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G |
NSRP1 |
nuclear speckle splicing regulatory protein 1 |
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IAGP |
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HPO |
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OMIM:620001 |
NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475
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G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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NUP85 |
nucleoporin 85 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
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NUS1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
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G |
NXN |
nucleoredoxin |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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ODC1 |
ornithine decarboxylase 1 |
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IAGP |
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HPO |
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OMIM:619075 ORPHA:544488 |
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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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 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OGDHL |
oxoglutarate dehydrogenase L |
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IAGP |
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HPO |
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OMIM:619701 |
NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379
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ORC6 |
origin recognition complex subunit 6 |
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IAGP |
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HPO |
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OMIM:613803 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
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G |
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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OTUD5 |
OTU deubiquitinase 5 |
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IAGP |
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HPO |
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OMIM:301056 |
NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386
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OTUD6B |
OTU deubiquitinase 6B |
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IAGP |
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HPO |
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OMIM:617452 ORPHA:505237 |
NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PACS1 |
phosphofurin acidic cluster sorting protein 1 |
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IAGP |
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HPO |
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OMIM:615009 ORPHA:329224 |
NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
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PACS2 |
phosphofurin acidic cluster sorting protein 2 |
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IAGP |
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HPO |
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OMIM:618067 ORPHA:442835 |
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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G |
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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G |
PARS2 |
prolyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523
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G |
PAX3 |
paired box 3 |
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IAGP |
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HPO |
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OMIM:122880 ORPHA:1529 ORPHA:896 |
NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
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G |
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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G |
PCNT |
pericentrin |
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IAGP |
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HPO |
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ORPHA:2637 ORPHA:808 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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OMIM:616592 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PEX3 |
peroxisomal biogenesis factor 3 |
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IAGP |
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HPO |
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OMIM:614882 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
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G |
PGM2L1 |
phosphoglucomutase 2 like 1 |
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IAGP |
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HPO |
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OMIM:620191 |
NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433
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G |
PHOX2B |
paired like homeobox 2B |
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IAGP |
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HPO |
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OMIM:209880 |
NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
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G |
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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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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OMIM:602501 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PITX1 |
paired like homeodomain 1 |
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IAGP |
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HPO |
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OMIM:119800 |
NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
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G |
PKDCC |
protein kinase domain containing, cytoplasmic |
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IAGP |
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HPO |
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OMIM:618821 |
NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
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G |
PLK4 |
polo like kinase 4 |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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OMIM:225400 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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G |
POGZ |
pogo transposable element derived with ZNF domain |
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IAGP |
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HPO |
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OMIM:616364 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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G |
POLR1A |
RNA polymerase I subunit A |
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IAGP |
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HPO |
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OMIM:616462 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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G |
POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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OMIM:618939 ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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G |
POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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OMIM:248390 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 |
|
OMIM:613717 ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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G |
POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
|
OMIM:264090 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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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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PPP1R15B |
protein phosphatase 1 regulatory subunit 15B |
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IAGP |
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HPO |
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OMIM:616817 ORPHA:391408 |
NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
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PPP2R1A |
protein phosphatase 2 scaffold subunit Aalpha |
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IAGP |
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HPO |
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OMIM:616362 |
NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
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PPP2R5D |
protein phosphatase 2 regulatory subunit B'delta |
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IAGP |
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HPO |
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OMIM:616355 ORPHA:457279 |
NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
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PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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IAGP |
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HPO |
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OMIM:300661 |
NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
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PRR12 |
proline rich 12 |
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IAGP |
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HPO |
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OMIM:619539 |
NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
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PRRX1 |
paired related homeobox 1 |
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IAGP |
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HPO |
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OMIM:202650 |
NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421
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PSMD12 |
proteasome 26S subunit, non-ATPase 12 |
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IAGP |
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HPO |
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ORPHA:529962 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
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PTCH1 |
patched 1 |
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IAGP |
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HPO |
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ORPHA:77301 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:2969 ORPHA:744 ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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OMIM:156250 OMIM:163950 ORPHA:648 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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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:314655 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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PUS7 |
pseudouridine synthase 7 |
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IAGP |
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HPO |
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OMIM:618342 |
NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271
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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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PYCR2 |
pyrroline-5-carboxylate reductase 2 |
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IAGP |
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HPO |
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OMIM:616420 ORPHA:481152 |
NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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OMIM:212720 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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OMIM:611553 OMIM:611554 ORPHA:648 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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ORPHA:1713 ORPHA:477817 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RAP1B |
RAP1B, member of RAS oncogene family |
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IAGP |
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HPO |
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OMIM:620654 |
NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901
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RAPSN |
receptor associated protein of the synapse |
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IAGP |
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HPO |
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OMIM:618388 |
NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
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RASA2 |
RAS p21 protein activator 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
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RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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RDH11 |
retinol dehydrogenase 11 |
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IAGP |
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HPO |
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ORPHA:436245 |
NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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OMIM:218600 |
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 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RIN2 |
Ras and Rab interactor 2 |
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IAGP |
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HPO |
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OMIM:613075 ORPHA:217335 |
NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
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RIT1 |
Ras like without CAAX 1 |
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IAGP |
ClinVar Annotator: match by term: Downslanted palpebral fissures |
ClinVar HPO |
PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 PMID:28554332 PMID:29734338 More...
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OMIM:615355 ORPHA:648 |
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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RLIM |
ring finger protein, LIM domain interacting |
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IAGP |
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HPO |
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OMIM:300978 |
NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624
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RNF135 |
ring finger protein 135 |
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IAGP |
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HPO |
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ORPHA:137634 |
NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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OMIM:616651 ORPHA:2636 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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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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RPS19 |
ribosomal protein S19 |
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IAGP |
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HPO |
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OMIM:105650 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
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RPS28 |
ribosomal protein S28 |
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IAGP |
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HPO |
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OMIM:606164 |
NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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OMIM:303600 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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RRAGC |
Ras related GTP binding C |
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IAGP |
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HPO |
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OMIM:620609 |
NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772
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RRAS |
RAS related |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
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RRAS2 |
RAS related 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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RREB1 |
ras responsive element binding protein 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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RYR1 |
ryanodine receptor 1 |
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IAGP |
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HPO |
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OMIM:619542 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SATB1 |
SATB homeobox 1 |
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IAGP |
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HPO |
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OMIM:619229 |
NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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OMIM:612313 ORPHA:251019 ORPHA:251028 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SC5D |
sterol-C5-desaturase |
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IAGP |
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HPO |
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ORPHA:46059 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
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SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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SCLT1 |
sodium channel and clathrin linker 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
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SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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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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SCN8A |
sodium voltage-gated channel alpha subunit 8 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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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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SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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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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SEMA5A |
semaphorin 5A |
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IAGP |
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HPO |
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ORPHA:281 |
NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
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SET |
SET nuclear proto-oncogene |
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IAGP |
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HPO |
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OMIM:618106 |
NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
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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 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SETD1A |
SET domain containing 1A, histone lysine methyltransferase |
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IAGP |
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HPO |
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OMIM:619056 |
NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664
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SETD1B |
SET domain containing 1B, histone lysine methyltransferase |
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IAGP |
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HPO |
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OMIM:619000 |
NCBI chr12:121,790,155...121,832,656
Ensembl chr12:121,804,009...121,832,656
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SETD2 |
SET domain containing 2, histone lysine methyltransferase |
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IAGP |
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HPO |
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OMIM:616831 OMIM:620155 OMIM:620157 ORPHA:821 |
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SETD5 |
SET domain containing 5 |
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IAGP |
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HPO |
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OMIM:615761 ORPHA:404440 |
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
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SF3B4 |
splicing factor 3b subunit 4 |
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IAGP |
DNA:mutations, haploinsufficiency:exon:multiple (human) |
HPO RGD |
PMID:22541558 |
OMIM:154400 ORPHA:245, RGD:11062353 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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SH3PXD2B |
SH3 and PX domains 2B |
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IAGP |
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HPO |
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OMIM:249420 ORPHA:137834 |
NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
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IAGP |
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HPO |
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OMIM:607721 |
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
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SIAH1 |
siah E3 ubiquitin protein ligase 1 |
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IAGP |
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HPO |
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OMIM:619314 |
NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402
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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 ORPHA:94065 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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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: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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SLC13A5 |
solute carrier family 13 member 5 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
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SLC19A3 |
solute carrier family 19 member 3 |
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IAGP |
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HPO |
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ORPHA:263410 |
NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028
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SLC1A2 |
solute carrier family 1 member 2 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
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SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
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HPO |
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OMIM:612289 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
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OMIM:602782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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SLC2A10 |
solute carrier family 2 member 10 |
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IAGP |
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HPO |
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OMIM:208050 |
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
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SLC38A3 |
solute carrier family 38 member 3 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
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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 ORPHA:157965 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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SLC45A1 |
solute carrier family 45 member 1 |
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IAGP |
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HPO |
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OMIM:617532 |
NCBI chr 1:8,318,114...8,344,165
Ensembl chr 1:8,318,114...8,344,167
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SLC9A7 |
solute carrier family 9 member A7 |
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IAGP |
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HPO |
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OMIM:301024 |
NCBI chr X:46,599,251...46,759,118
Ensembl chr X:46,599,251...46,759,118
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G |
SLF2 |
SMC5-SMC6 complex localization factor 2 |
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IAGP |
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HPO |
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OMIM:620184 |
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
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SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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OMIM:619656 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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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:601358 ORPHA:3051 |
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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OMIM:300590 OMIM:301044 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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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 |
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
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G |
SMPD4 |
sphingomyelin phosphodiesterase 4 |
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IAGP |
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HPO |
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OMIM:618622 |
NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750
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SNAP29 |
synaptosome associated protein 29 |
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IAGP |
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HPO |
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OMIM:609528 ORPHA:66631 |
NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
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IAGP |
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HPO |
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OMIM:117650 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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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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SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
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OMIM:610733 ORPHA:648 |
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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SOS2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
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IAGP |
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HPO |
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OMIM:616559 ORPHA:648 |
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
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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 |
NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
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SPART |
spartin |
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IAGP |
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HPO |
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ORPHA:101000 |
NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
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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 ORPHA:1519 |
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 |
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:618828 |
NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
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SPRED1 |
sprouty related EVH1 domain containing 1 |
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IAGP |
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HPO |
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OMIM:611431 |
NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
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SPRED2 |
sprouty related EVH1 domain containing 2 |
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IAGP |
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HPO |
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OMIM:619745 ORPHA:648 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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STAC3 |
SH3 and cysteine rich domain 3 |
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IAGP |
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HPO |
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OMIM:255995 ORPHA:168572 |
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
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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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SUZ12 |
SUZ12 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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OMIM:618786 ORPHA:3447 |
NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
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SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
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IAGP |
ClinVar Annotator: match by term: Downslanted palpebral fissures |
ClinVar HPO |
PMID:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:28492532 PMID:30440138 PMID:30541864 More...
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ORPHA:442835 |
NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
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SYNGAP1-AS1 |
SYNGAP1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Downslanted palpebral fissures |
ClinVar |
PMID:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:28492532 PMID:30440138 PMID:30541864 More...
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NCBI chr 6:33,437,363...33,454,405
Ensembl chr 6:33,437,363...33,454,453
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SYNJ1 |
synaptojanin 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
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SZT2 |
SZT2 subunit of KICSTOR complex |
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IAGP |
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HPO |
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OMIM:615476 ORPHA:442835 |
NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247
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TAF1 |
TATA-box binding protein associated factor 1 |
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IAGP |
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HPO |
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OMIM:300966 ORPHA:480907 |
NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374
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TAF4 |
TATA-box binding protein associated factor 4 |
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IAGP |
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HPO |
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OMIM:620450 |
NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881
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TASP1 |
taspase 1 |
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IAGP |
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HPO |
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OMIM:618950 |
NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932
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TBR1 |
T-box brain transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:1617 |
NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870
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TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:1727 ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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OMIM:154500 ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TFAP2B |
transcription factor AP-2 beta |
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IAGP |
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HPO |
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ORPHA:46627 |
NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
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TFE3 |
transcription factor binding to IGHM enhancer 3 |
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IAGP |
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HPO |
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OMIM:301066 |
NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410
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TGFB2 |
transforming growth factor beta 2 |
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IAGP |
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HPO |
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OMIM:614816 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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TGFB3 |
transforming growth factor beta 3 |
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IAGP |
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HPO |
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OMIM:615582 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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TGFBR1 |
transforming growth factor beta receptor 1 |
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IAGP |
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HPO |
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OMIM:609192 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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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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TMCO1 |
transmembrane and coiled-coil domains 1 |
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IAGP |
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HPO |
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ORPHA:1394 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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TMEM147 |
transmembrane protein 147 |
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IAGP |
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HPO |
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OMIM:620075 |
NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526
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TMEM237 |
transmembrane protein 237 |
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IAGP |
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HPO |
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OMIM:614424 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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TNNI2 |
troponin I2, fast skeletal type |
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IAGP |
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HPO |
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OMIM:601680 |
NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
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TNRC6B |
trinucleotide repeat containing adaptor 6B |
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IAGP |
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HPO |
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OMIM:619243 |
NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808
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TRAIP |
TRAF interacting protein |
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IAGP |
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HPO |
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ORPHA:808 |
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
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TRAK1 |
trafficking kinesin protein 1 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890
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TRIM32 |
tripartite motif containing 32 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
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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:617061 OMIM:618825 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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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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TRMT10A |
tRNA methyltransferase 10A |
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IAGP |
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HPO |
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ORPHA:391408 |
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
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IAGP |
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HPO |
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OMIM:618180 |
NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572
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TSR2 |
TSR2 ribosome maturation factor |
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IAGP |
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HPO |
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OMIM:300946 |
NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032
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TTC8 |
tetratricopeptide repeat domain 8 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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TUBB3 |
tubulin beta 3 class III |
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IAGP |
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HPO |
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ORPHA:300570 |
NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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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:180750 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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TWIST2 |
twist family bHLH transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:1807 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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UBA5 |
ubiquitin like modifier activating enzyme 5 |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794
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UBE3A |
ubiquitin protein ligase E3A |
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IAGP |
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HPO |
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ORPHA:238446 |
NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051
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UBR7 |
ubiquitin protein ligase E3 component n-recognin 7 |
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IAGP |
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HPO |
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OMIM:619189 |
NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215
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UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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UMPS |
uridine monophosphate synthetase |
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IAGP |
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HPO |
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ORPHA:30 |
NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273
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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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USP9X |
ubiquitin specific peptidase 9 X-linked |
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IAGP |
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HPO |
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ORPHA:480880 |
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
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VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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OMIM:216550 ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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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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OMIM:619135 ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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WAC |
WW domain containing adaptor with coiled-coil |
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IAGP |
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HPO |
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ORPHA:284169 |
NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112
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WASHC5 |
WASH complex subunit 5 |
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IAGP |
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HPO |
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OMIM:220210 ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WDPCP |
WD repeat containing planar cell polarity effector |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
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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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ORPHA:442835 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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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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YWHAG |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma |
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IAGP |
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HPO |
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ORPHA:442835 |
NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991
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YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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OMIM:617557 ORPHA:506358 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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ZBTB20 |
zinc finger and BTB domain containing 20 |
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IAGP |
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HPO |
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OMIM:259050 ORPHA:3042 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
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ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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OMIM:235730 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZIC1 |
Zic family member 1 |
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IAGP |
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HPO |
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OMIM:618736 |
NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
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ZMIZ1 |
zinc finger MIZ-type containing 1 |
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IAGP |
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HPO |
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OMIM:618659 |
NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:1662 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ZMYM2 |
zinc finger MYM-type containing 2 |
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IAGP |
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HPO |
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OMIM:619522 |
NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
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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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ZNF462 |
zinc finger protein 462 |
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IAGP |
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HPO |
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OMIM:618619 ORPHA:502430 |
NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
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ZSWIM6 |
zinc finger SWIM-type containing 6 |
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IAGP |
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HPO |
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OMIM:603671 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
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Term paths to the root
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