Term: | Infantile onset |
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Accession: | HP:0003593
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browse the term
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Definition: | Onset of signs or symptoms of disease between 28 days to one year of life. |
Comment: | Onset of signs or symptoms of disease within the first 12 months of life. |
Synonyms: | exact_synonym: | Onset in first year of life; Onset in infancy |
| alt_id: | HP:0003576; HP:0003579; HP:0003591; HP:0003594; HP:0003599; HP:0003600; HP:0003629; HP:0003631; HP:0003667; HP:0003672; HP:0010573 |
| xref: | UMLS:C1848924 |
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AARS1 |
alanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:616339 MIM:619691 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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AARS2 |
alanyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:614096 |
NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347
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AASS |
aminoadipate-semialdehyde synthase |
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IAGP |
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HPO |
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MIM:238700 |
NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308
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ABCB11 |
ATP binding cassette subfamily B member 11 |
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IAGP |
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HPO |
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MIM:601847 |
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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MIM:602347 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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ABCB7 |
ATP binding cassette subfamily B member 7 |
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IAGP |
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HPO |
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MIM:301310 |
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:614473 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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MIM:619719 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ABCD3 |
ATP binding cassette subfamily D member 3 |
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IAGP |
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HPO |
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MIM:616278 |
NCBI chr 1:94,385,131...94,518,663
Ensembl chr 1:94,418,389...94,518,666
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ABHD16A |
abhydrolase domain containing 16A, phospholipase |
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IAGP |
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HPO |
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MIM:619735 |
NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
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ACADS |
acyl-CoA dehydrogenase short chain |
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IAGP |
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HPO |
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MIM:201470 |
NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
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ACADSB |
acyl-CoA dehydrogenase short/branched chain |
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IAGP |
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HPO |
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MIM:610006 |
NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290
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ACADVL |
acyl-CoA dehydrogenase very long chain |
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IAGP |
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HPO |
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MIM:201475 |
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
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ACER3 |
alkaline ceramidase 3 |
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IAGP |
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HPO |
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MIM:617762 |
NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797
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ACO2 |
aconitase 2 |
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IAGP |
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HPO |
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MIM:614559 |
NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273
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ACOX1 |
acyl-CoA oxidase 1 |
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IAGP |
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HPO |
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MIM:264470 |
NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
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ACOX2 |
acyl-CoA oxidase 2 |
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IAGP |
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HPO |
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MIM:617308 |
NCBI chr 3:58,505,136...58,537,190
Ensembl chr 3:58,505,136...58,537,283
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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MIM:616852 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ACTB |
actin beta |
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IAGP |
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HPO |
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MIM:620475 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ACTL6B |
actin like 6B |
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IAGP |
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HPO |
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MIM:618470 |
NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
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ADA |
adenosine deaminase |
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IAGP |
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HPO |
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MIM:102700 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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MIM:182410 MIM:615688 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ADAM22 |
ADAM metallopeptidase domain 22 |
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IAGP |
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HPO |
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MIM:617933 |
NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889
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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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MIM:225410 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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ADAR |
adenosine deaminase RNA specific |
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IAGP |
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HPO |
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MIM:127400 MIM:615010 |
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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MIM:615286 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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ADCY3 |
adenylate cyclase 3 |
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IAGP |
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HPO |
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MIM:617885 |
NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237
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ADCY5 |
adenylate cyclase 5 |
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IAGP |
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HPO |
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MIM:606703 MIM:619651 |
NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
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ADD3 |
adducin 3 |
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IAGP |
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HPO |
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MIM:617008 |
NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565
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ADGRG1 |
adhesion G protein-coupled receptor G1 |
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IAGP |
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HPO |
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MIM:615752 |
NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580
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ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP |
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HPO |
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MIM:604352 |
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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ADK |
adenosine kinase |
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IAGP |
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HPO |
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MIM:614300 |
NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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MIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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ADSL |
adenylosuccinate lyase |
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IAGP |
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HPO |
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MIM:103050 |
NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
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AEBP1 |
AE binding protein 1 |
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IAGP |
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HPO |
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MIM:618000 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
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AFG2A |
AFG2 AAA ATPase homolog A |
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IAGP |
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HPO |
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MIM:616577 |
NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433
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AFG2B |
AFG2 AAA ATPase homolog B |
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IAGP |
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HPO |
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MIM:619616 |
NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415
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AFG3L2 |
AFG3 like matrix AAA peptidase subunit 2 |
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IAGP |
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HPO |
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MIM:614487 |
NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
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AGK |
acylglycerol kinase |
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IAGP |
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HPO |
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MIM:212350 |
NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244
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AGO1 |
argonaute RISC component 1 |
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IAGP |
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HPO |
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MIM:620292 |
NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532
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AGO2 |
argonaute RISC catalytic component 2 |
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IAGP |
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HPO |
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MIM:619149 |
NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633
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AGR2 |
anterior gradient 2, protein disulphide isomerase family member |
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IAGP |
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HPO |
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MIM:620233 |
NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433
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AGTPBP1 |
ATP/GTP binding carboxypeptidase 1 |
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IAGP |
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HPO |
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MIM:618276 |
NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
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AGXT |
alanine--glyoxylate aminotransferase |
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IAGP |
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HPO |
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MIM:259900 |
NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
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AHCY |
adenosylhomocysteinase |
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IAGP |
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HPO |
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MIM:613752 |
NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
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AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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IAGP |
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HPO |
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MIM:300816 |
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
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AIMP1 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 1 |
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IAGP |
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HPO |
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MIM:260600 |
NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456
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AIMP2 |
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 |
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IAGP |
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HPO |
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MIM:618006 |
NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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MIM:176920 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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AKT2 |
AKT serine/threonine kinase 2 |
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IAGP |
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HPO |
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MIM:240900 |
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP |
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HPO |
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MIM:219150 MIM:616586 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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ALDH5A1 |
aldehyde dehydrogenase 5 family member A1 |
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IAGP |
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HPO |
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MIM:271980 |
NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207
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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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MIM:614105 |
NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
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ALDOA |
aldolase, fructose-bisphosphate A |
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IAGP |
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HPO |
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MIM:611881 |
NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
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ALG11 |
ALG11 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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MIM:613661 |
NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
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ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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MIM:607143 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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ALG13 |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
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IAGP |
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HPO |
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MIM:300884 |
NCBI chr X:111,681,170...111,760,649
Ensembl chr X:111,665,811...111,760,649
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ALG14 |
ALG14 UDP-N-acetylglucosaminyltransferase subunit |
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IAGP |
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HPO |
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MIM:619031 |
NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
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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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MIM:607906 MIM:616228 |
NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
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ALG8 |
ALG8 alpha-1,3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:608104 |
NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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MIM:608776 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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ALPK3 |
alpha kinase 3 |
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IAGP |
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HPO |
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MIM:618052 |
NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479
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ALS2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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IAGP |
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HPO |
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MIM:607225 |
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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AMBN |
ameloblastin |
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IAGP |
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HPO |
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MIM:616270 |
NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288
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AMFR |
autocrine motility factor receptor |
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IAGP |
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HPO |
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MIM:620379 |
NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545
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AMMECR1 |
AMMECR nuclear protein 1 |
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IAGP |
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HPO |
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MIM:300990 |
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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MIM:615809 |
NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
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AMTN |
amelotin |
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IAGP |
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HPO |
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MIM:617607 |
NCBI chr 4:70,518,569...70,532,743
Ensembl chr 4:70,518,569...70,532,743
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ANAPC7 |
anaphase promoting complex subunit 7 |
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IAGP |
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HPO |
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MIM:619699 |
NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730
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ANGPT2 |
angiopoietin 2 |
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IAGP |
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HPO |
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MIM:619369 |
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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ANK1 |
ankyrin 1 |
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IAGP |
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HPO |
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MIM:182900 |
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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IAGP |
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HPO |
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MIM:123000 |
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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ANKS6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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IAGP |
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HPO |
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MIM:615382 |
NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965
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ANOS1 |
anosmin 1 |
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IAGP |
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HPO |
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MIM:308700 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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ANTXR1 |
ANTXR cell adhesion molecule 1 |
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IAGP |
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HPO |
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MIM:602089 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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ANTXR2 |
ANTXR cell adhesion molecule 2 |
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IAGP |
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HPO |
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MIM:228600 |
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
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AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
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IAGP |
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HPO |
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MIM:304340 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
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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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MIM:617276 |
NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
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AP5Z1 |
adaptor related protein complex 5 subunit zeta 1 |
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IAGP |
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HPO |
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MIM:613647 |
NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
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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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MIM:617169 MIM:618677 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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APOB |
apolipoprotein B |
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IAGP |
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HPO |
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MIM:615558 |
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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AQP4 |
aquaporin 4 |
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IAGP |
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HPO |
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MIM:620448 |
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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ARFGEF1 |
ARF guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
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MIM:619964 |
NCBI chr 8:67,173,511...67,343,781
Ensembl chr 8:67,173,511...67,343,781
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ARFGEF2 |
ARF guanine nucleotide exchange factor 2 |
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IAGP |
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HPO |
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MIM:608097 |
NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693
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ARHGEF9 |
Cdc42 guanine nucleotide exchange factor 9 |
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IAGP |
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HPO |
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MIM:300607 |
NCBI chr X:63,634,967...63,785,214
Ensembl chr X:63,634,967...63,809,274
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ARID2 |
AT-rich interaction domain 2 |
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IAGP |
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HPO |
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MIM:617808 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ARPC1B |
actin related protein 2/3 complex subunit 1B |
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IAGP |
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HPO |
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MIM:617718 |
NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
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ARPC4 |
actin related protein 2/3 complex subunit 4 |
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IAGP |
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HPO |
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MIM:620141 |
NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101
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ARPC5 |
actin related protein 2/3 complex subunit 5 |
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IAGP |
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HPO |
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MIM:620565 |
NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783
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ARSB |
arylsulfatase B |
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IAGP |
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HPO |
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MIM:253200 |
NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
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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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MIM:617020 |
NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733
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ASH1L |
ASH1 like histone lysine methyltransferase |
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IAGP |
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HPO |
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MIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
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ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
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IAGP |
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HPO |
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MIM:615574 |
NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
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ASPA |
aspartoacylase |
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IAGP |
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HPO |
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MIM:271900 |
NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405
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ASS1 |
argininosuccinate synthase 1 |
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IAGP |
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HPO |
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MIM:215700 |
NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
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ATAD3A |
ATPase family AAA domain containing 3A |
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IAGP |
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HPO |
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MIM:617183 |
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
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ATCAY |
ATCAY kinesin light chain interacting caytaxin |
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IAGP |
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HPO |
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MIM:601238 |
NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082
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ATG5 |
autophagy related 5 |
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IAGP |
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HPO |
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MIM:617584 |
NCBI chr 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791
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ATG7 |
autophagy related 7 |
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IAGP |
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HPO |
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MIM:619422 |
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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ATP13A3 |
ATPase 13A3 |
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IAGP |
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HPO |
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MIM:265400 |
NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
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ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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IAGP |
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HPO |
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MIM:618314 |
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
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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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MIM:619605 |
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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MIM:601338 MIM:619606 |
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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ATP2B1 |
ATPase plasma membrane Ca2+ transporting 1 |
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IAGP |
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HPO |
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MIM:619910 |
NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
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ATP2B3 |
ATPase plasma membrane Ca2+ transporting 3 |
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IAGP |
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HPO |
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MIM:302500 |
NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
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ATP5F1A |
ATP synthase F1 subunit alpha |
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IAGP |
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HPO |
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MIM:620358 |
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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ATP5F1B |
ATP synthase F1 subunit beta |
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IAGP |
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HPO |
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MIM:620085 |
NCBI chr12:56,638,175...56,645,984
Ensembl chr12:56,638,175...56,645,984
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G |
ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
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IAGP |
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HPO |
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MIM:300972 |
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
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IAGP |
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HPO |
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MIM:300423 MIM:301045 |
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP6V0A1 |
ATPase H+ transporting V0 subunit a1 |
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IAGP |
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HPO |
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MIM:619970 MIM:619971 |
NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582
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ATP6V0A4 |
ATPase H+ transporting V0 subunit a4 |
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IAGP |
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HPO |
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MIM:602722 |
NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
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ATP6V0C |
ATPase H+ transporting V0 subunit c |
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IAGP |
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HPO |
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MIM:620465 |
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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MIM:618012 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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MIM:616455 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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MIM:309400 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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G |
ATP8B1 |
ATPase phospholipid transporting 8B1 |
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IAGP |
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HPO |
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MIM:211600 |
NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
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ATP9A |
ATPase phospholipid transporting 9A (putative) |
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IAGP |
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HPO |
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MIM:620242 |
NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390
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G |
ATR |
ATR serine/threonine kinase |
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IAGP |
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HPO |
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MIM:614564 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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G |
AUH |
AU RNA binding methylglutaconyl-CoA hydratase |
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IAGP |
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HPO |
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MIM:250950 |
NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918
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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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MIM:615834 |
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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AVPR2 |
arginine vasopressin receptor 2 |
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IAGP |
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HPO |
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MIM:300539 |
NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166
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G |
AXIN1 |
axin 1 |
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IAGP |
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HPO |
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MIM:620558 |
NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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IAGP |
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HPO |
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MIM:615181 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
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G |
B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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MIM:615349 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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G |
B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltransferase 1 |
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IAGP |
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HPO |
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MIM:609195 |
NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
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G |
B9D1 |
B9 domain containing 1 |
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IAGP |
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HPO |
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MIM:617120 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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G |
BAAT |
bile acid-CoA:amino acid N-acyltransferase |
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IAGP |
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HPO |
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MIM:619232 |
NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400
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G |
BCAP31 |
B cell receptor associated protein 31 |
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IAGP |
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HPO |
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MIM:300475 |
NCBI chr X:153,700,492...153,724,387
Ensembl chr X:153,700,492...153,724,565
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G |
BCAS3 |
BCAS3 microtubule associated cell migration factor |
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IAGP |
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HPO |
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MIM:619641 |
NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838
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G |
BCKDHB |
branched chain keto acid dehydrogenase E1 subunit beta |
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IAGP |
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HPO |
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MIM:620698 |
NCBI chr 6:80,106,610...80,466,676
Ensembl chr 6:80,106,647...80,346,270
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G |
BCKDK |
branched chain keto acid dehydrogenase kinase |
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IAGP |
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HPO |
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MIM:614923 |
NCBI chr16:31,108,386...31,117,640
Ensembl chr16:31,106,107...31,112,791
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G |
BCL10 |
BCL10 immune signaling adaptor |
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IAGP |
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HPO |
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MIM:616098 |
NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
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G |
BCL11B |
BCL11 transcription factor B |
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IAGP |
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HPO |
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MIM:618092 |
NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
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G |
BCORL1 |
BCL6 corepressor like 1 |
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IAGP |
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HPO |
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MIM:301029 |
NCBI chr X:129,980,313...130,058,071
Ensembl chr X:129,981,107...130,058,071
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G |
BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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IAGP |
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HPO |
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MIM:262000 |
NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
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G |
BICD2 |
BICD cargo adaptor 2 |
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IAGP |
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HPO |
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MIM:615290 |
NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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G |
BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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MIM:210900 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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G |
BLNK |
B cell linker |
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IAGP |
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HPO |
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MIM:613502 |
NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
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G |
BOLA3 |
bolA family member 3 |
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IAGP |
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HPO |
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MIM:614299 |
NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912
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G |
BRAT1 |
BRCA1 associated ATM activator 1 |
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IAGP |
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HPO |
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MIM:614498 MIM:618056 |
NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694
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G |
BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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MIM:620568 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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G |
BRF1 |
BRF1 general transcription factor IIIB subunit |
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IAGP |
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HPO |
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MIM:616202 |
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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G |
BRWD3 |
bromodomain and WD repeat domain containing 3 |
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IAGP |
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HPO |
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MIM:300659 |
NCBI chr X:80,669,503...80,809,877
Ensembl chr X:80,669,503...80,809,877
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G |
BTD |
biotinidase |
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IAGP |
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HPO |
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MIM:253260 |
NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311
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G |
BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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MIM:300755 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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G |
C12orf57 |
chromosome 12 open reading frame 57 |
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IAGP |
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HPO |
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MIM:218340 |
NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
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G |
C1GALT1C1 |
C1GALT1 specific chaperone 1 |
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IAGP |
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HPO |
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MIM:301110 |
NCBI chr X:120,625,674...120,630,054
Ensembl chr X:120,625,674...120,630,054
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G |
C2orf69 |
chromosome 2 open reading frame 69 |
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IAGP |
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HPO |
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MIM:619423 |
NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935
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G |
C3 |
complement C3 |
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IAGP |
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HPO |
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MIM:612925 MIM:613779 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
C4B |
complement C4B (Chido/Rodgers blood group) |
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IAGP |
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HPO |
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MIM:614379 |
NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
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G |
CA12 |
carbonic anhydrase 12 |
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IAGP |
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HPO |
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MIM:143860 |
NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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IAGP |
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HPO |
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MIM:617106 |
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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G |
CACNA1B |
calcium voltage-gated channel subunit alpha1 B |
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IAGP |
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HPO |
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MIM:618497 |
NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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IAGP |
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HPO |
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MIM:620029 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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G |
CACNA1G |
calcium voltage-gated channel subunit alpha1 G |
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IAGP |
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HPO |
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MIM:618087 |
NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474
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G |
CACNA1H |
calcium voltage-gated channel subunit alpha1 H |
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IAGP |
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HPO |
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MIM:617027 |
NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169
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G |
CACNA1I |
calcium voltage-gated channel subunit alpha1 I |
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IAGP |
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HPO |
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MIM:620114 |
NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735
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G |
CACNA1S |
calcium voltage-gated channel subunit alpha1 S |
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IAGP |
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HPO |
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MIM:170400 MIM:620246 |
NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
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G |
CACNA2D1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
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IAGP |
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HPO |
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MIM:620149 |
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
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G |
CACNA2D2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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IAGP |
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HPO |
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MIM:618501 |
NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244
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G |
CAD |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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IAGP |
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HPO |
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MIM:616457 |
NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
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G |
CADM3 |
cell adhesion molecule 3 |
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IAGP |
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HPO |
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MIM:619519 |
NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313
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G |
CALM1 |
calmodulin 1 |
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IAGP |
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HPO |
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MIM:616247 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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G |
CALR |
calreticulin |
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IAGP |
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HPO |
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MIM:254450 |
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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IAGP |
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HPO |
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MIM:617798 MIM:618095 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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G |
CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
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IAGP |
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HPO |
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MIM:617799 |
NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
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G |
CAMK2G |
calcium/calmodulin dependent protein kinase II gamma |
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IAGP |
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HPO |
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MIM:618522 |
NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591
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G |
CAMLG |
calcium modulating ligand |
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IAGP |
|
HPO |
|
MIM:620201 |
NCBI chr 5:134,738,548...134,752,157
Ensembl chr 5:134,738,495...134,752,157
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G |
CAMSAP1 |
calmodulin regulated spectrin associated protein 1 |
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IAGP |
|
HPO |
|
MIM:620316 |
NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546
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G |
CAMTA1 |
calmodulin binding transcription activator 1 |
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IAGP |
|
HPO |
|
MIM:614756 |
NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
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G |
CAPNS1 |
calpain small subunit 1 |
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IAGP |
|
HPO |
|
MIM:620777 |
NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353
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G |
CAPRIN1 |
cell cycle associated protein 1 |
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IAGP |
|
HPO |
|
MIM:620782 |
NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610
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G |
CARD11 |
caspase recruitment domain family member 11 |
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IAGP |
|
HPO |
|
MIM:615206 |
NCBI chr 7:2,906,142...3,043,867
Ensembl chr 7:2,906,142...3,044,228
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G |
CARD14 |
caspase recruitment domain family member 14 |
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IAGP |
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HPO |
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MIM:173200 |
NCBI chr17:80,170,030...80,209,331
Ensembl chr17:80,169,992...80,216,073
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CARMIL2 |
capping protein regulator and myosin 1 linker 2 |
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IAGP |
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HPO |
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MIM:618131 |
NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
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CARS2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616672 |
NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603
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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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MIM:300908 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CAST |
calpastatin |
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IAGP |
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HPO |
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MIM:616295 |
NCBI chr 5:95,961,429...96,774,683
Ensembl chr 5:96,247,756...96,779,595 Ensembl chr 5:96,247,756...96,779,595
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CAV1 |
caveolin 1 |
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IAGP |
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HPO |
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MIM:612526 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CAVIN1 |
caveolae associated protein 1 |
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IAGP |
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HPO |
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MIM:613327 |
NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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MIM:613563 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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CBLB |
Cbl proto-oncogene B |
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IAGP |
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HPO |
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MIM:620430 |
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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CCDC115 |
coiled-coil domain containing 115 |
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IAGP |
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HPO |
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MIM:616828 |
NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699
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CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
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MIM:613807 |
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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CCDC65 |
coiled-coil domain containing 65 |
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IAGP |
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HPO |
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MIM:615504 |
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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CD19 |
CD19 molecule |
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IAGP |
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HPO |
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MIM:613493 |
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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CD247 |
CD247 molecule |
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IAGP |
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HPO |
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MIM:610163 |
NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640
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CD320 |
CD320 molecule |
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IAGP |
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HPO |
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MIM:613646 |
NCBI chr19:8,302,127...8,308,358
Ensembl chr19:8,302,127...8,308,358
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CD3D |
CD3 delta subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615617 |
NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
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CD3E |
CD3 epsilon subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615615 |
NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
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CD3G |
CD3 gamma subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615607 |
NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
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CD40LG |
CD40 ligand |
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IAGP |
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HPO |
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MIM:308230 |
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CD55 |
CD55 molecule (Cromer blood group) |
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IAGP |
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HPO |
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MIM:226300 |
NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
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CD59 |
CD59 molecule (CD59 blood group) |
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IAGP |
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HPO |
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MIM:612300 |
NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479
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CD79A |
CD79a molecule |
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IAGP |
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HPO |
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MIM:613501 |
NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
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CD79B |
CD79b molecule |
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IAGP |
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HPO |
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MIM:612692 |
NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
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CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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MIM:601553 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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MIM:300672 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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CEBPE |
CCAAT enhancer binding protein epsilon |
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IAGP |
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HPO |
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MIM:245480 |
NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
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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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MIM:619561 |
NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675
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CEP104 |
centrosomal protein 104 |
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IAGP |
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HPO |
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MIM:616781 MIM:619988 |
NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396
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CERS1 |
ceramide synthase 1 |
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IAGP |
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HPO |
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MIM:616230 |
NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
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CFAP410 |
cilia and flagella associated protein 410 |
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IAGP |
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HPO |
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MIM:602271 |
NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
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CFI |
complement factor I |
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IAGP |
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HPO |
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MIM:610984 |
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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CFTR |
CF transmembrane conductance regulator |
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IAGP |
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HPO |
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MIM:219700 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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CHAMP1 |
chromosome alignment maintaining phosphoprotein 1 |
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IAGP |
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HPO |
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MIM:616579 |
NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
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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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MIM:617682 |
NCBI chr 5:98,853,985...98,929,007
Ensembl chr 5:98,853,985...98,929,007
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CHD2 |
chromodomain helicase DNA binding protein 2 |
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IAGP |
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HPO |
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MIM:615369 |
NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996
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CHD3 |
chromodomain helicase DNA binding protein 3 |
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IAGP |
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HPO |
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MIM:618205 |
NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
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G |
CHD5 |
chromodomain helicase DNA binding protein 5 |
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IAGP |
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HPO |
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MIM:619873 |
NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321
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G |
CHD8 |
chromodomain helicase DNA binding protein 8 |
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IAGP |
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HPO |
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MIM:615032 |
NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126
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G |
CHKA |
choline kinase alpha |
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IAGP |
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HPO |
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MIM:620023 |
NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444
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CHKB |
choline kinase beta |
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IAGP |
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HPO |
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MIM:602541 |
NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,959...50,601,455
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CHMP1A |
charged multivesicular body protein 1A |
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IAGP |
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HPO |
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MIM:614961 |
NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738
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CHRNA1 |
cholinergic receptor nicotinic alpha 1 subunit |
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IAGP |
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HPO |
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MIM:601462 MIM:608930 |
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
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CHRND |
cholinergic receptor nicotinic delta subunit |
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IAGP |
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HPO |
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MIM:616321 MIM:616322 |
NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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CHRNE |
cholinergic receptor nicotinic epsilon subunit |
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IAGP |
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HPO |
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MIM:608931 MIM:616324 |
NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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G |
CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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MIM:143095 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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G |
CIC |
capicua transcriptional repressor |
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IAGP |
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HPO |
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MIM:617600 |
NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797
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G |
CLCN3 |
chloride voltage-gated channel 3 |
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IAGP |
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HPO |
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MIM:619517 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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G |
CLCN4 |
chloride voltage-gated channel 4 |
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IAGP |
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HPO |
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MIM:300114 |
NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660
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G |
CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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MIM:611490 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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G |
CLCNKB |
chloride voltage-gated channel Kb |
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IAGP |
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HPO |
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MIM:607364 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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CLDN11 |
claudin 11 |
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IAGP |
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HPO |
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MIM:619328 |
NCBI chr 3:170,418,868...170,434,691
Ensembl chr 3:170,418,868...170,454,733
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CLDN16 |
claudin 16 |
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IAGP |
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HPO |
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MIM:248250 |
NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
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G |
CLDN19 |
claudin 19 |
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IAGP |
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HPO |
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MIM:248190 |
NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
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CLMP |
CXADR like membrane protein |
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IAGP |
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HPO |
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MIM:615237 |
NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,291
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G |
CLP1 |
cleavage factor polyribonucleotide kinase subunit 1 |
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IAGP |
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HPO |
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MIM:615803 |
NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
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G |
CLPB |
ClpB family mitochondrial disaggregase |
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IAGP |
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HPO |
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MIM:616271 MIM:619813 MIM:619835 |
NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
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G |
CLPX |
caseinolytic mitochondrial matrix peptidase chaperone subunit X |
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IAGP |
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HPO |
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MIM:618015 |
NCBI chr15:65,148,219...65,185,342
Ensembl chr15:65,148,219...65,185,342
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G |
CLTC |
clathrin heavy chain |
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IAGP |
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HPO |
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MIM:617854 |
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956
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G |
CLXN |
calaxin |
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IAGP |
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HPO |
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MIM:620642 |
NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311
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G |
CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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IAGP |
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HPO |
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MIM:616418 |
NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
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G |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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IAGP |
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HPO |
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MIM:217080 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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G |
CNOT3 |
CCR4-NOT transcription complex subunit 3 |
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IAGP |
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HPO |
|
MIM:618672 |
NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681
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G |
CNPY3 |
canopy FGF signaling regulator 3 |
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IAGP |
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HPO |
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MIM:617929 |
NCBI chr 6:42,928,002...42,939,294
Ensembl chr 6:42,929,480...42,939,294
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G |
CNTN1 |
contactin 1 |
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IAGP |
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HPO |
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MIM:612540 |
NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
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G |
CNTNAP2 |
contactin associated protein 2 |
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IAGP |
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HPO |
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MIM:610042 |
NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
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G |
COG2 |
component of oligomeric golgi complex 2 |
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IAGP |
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HPO |
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MIM:617395 |
NCBI chr 1:230,642,481...230,693,982
Ensembl chr 1:230,642,481...230,693,982
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G |
COG3 |
component of oligomeric golgi complex 3 |
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IAGP |
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HPO |
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MIM:620546 |
NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701
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G |
COG4 |
component of oligomeric golgi complex 4 |
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IAGP |
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HPO |
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MIM:613489 |
NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
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G |
COG8 |
component of oligomeric golgi complex 8 |
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IAGP |
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HPO |
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MIM:611182 |
NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583
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G |
COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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MIM:604841 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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G |
COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
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HPO |
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MIM:616470 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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G |
COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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MIM:166200 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
COL27A1 |
collagen type XXVII alpha 1 chain |
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IAGP |
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HPO |
|
MIM:615155 |
NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
|
HPO |
|
MIM:175780 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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G |
COL6A1 |
collagen type VI alpha 1 chain |
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IAGP |
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HPO |
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MIM:254090 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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G |
COL6A2 |
collagen type VI alpha 2 chain |
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IAGP |
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HPO |
|
MIM:620725 MIM:620727 |
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
|
MIM:226600 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
COLGALT1 |
collagen beta(1-O)galactosyltransferase 1 |
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IAGP |
|
HPO |
|
MIM:618360 |
NCBI chr19:17,555,649...17,583,157
Ensembl chr19:17,555,649...17,583,162
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G |
COLQ |
collagen like tail subunit of asymmetric acetylcholinesterase |
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IAGP |
|
HPO |
|
MIM:603034 |
NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
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G |
COPB1 |
COPI coat complex subunit beta 1 |
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IAGP |
|
HPO |
|
MIM:619255 |
NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
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G |
COPB2 |
COPI coat complex subunit beta 2 |
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IAGP |
|
HPO |
|
MIM:619884 |
NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736
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G |
COQ2 |
coenzyme Q2, polyprenyltransferase |
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IAGP |
|
HPO |
|
MIM:607426 |
NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
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G |
COQ6 |
coenzyme Q6, monooxygenase |
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IAGP |
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HPO |
|
MIM:614650 |
NCBI chr14:73,949,918...73,963,670
Ensembl chr14:73,949,926...73,963,670
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G |
COQ8A |
coenzyme Q8A |
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IAGP |
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HPO |
|
MIM:612016 |
NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544
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G |
COQ8B |
coenzyme Q8B |
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IAGP |
|
HPO |
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MIM:615573 |
NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
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G |
CORO1A |
coronin 1A |
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IAGP |
|
HPO |
|
MIM:615401 |
NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
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G |
COX10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
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IAGP |
|
HPO |
|
MIM:619046 |
NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736
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G |
COX11 |
cytochrome c oxidase copper chaperone COX11 |
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IAGP |
|
HPO |
|
MIM:620275 |
NCBI chr17:54,951,902...54,968,785
Ensembl chr17:54,951,902...54,968,703
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G |
COX15 |
cytochrome c oxidase assembly homolog COX15 |
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IAGP |
|
HPO |
|
MIM:615119 |
NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127
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COX4I2 |
cytochrome c oxidase subunit 4I2 |
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IAGP |
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HPO |
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MIM:612714 |
NCBI chr20:31,637,912...31,645,006
Ensembl chr20:31,637,912...31,645,006
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COX5A |
cytochrome c oxidase subunit 5A |
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IAGP |
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HPO |
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MIM:619064 |
NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083
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COX6A2 |
cytochrome c oxidase subunit 6A2 |
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IAGP |
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HPO |
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MIM:619062 |
NCBI chr16:31,427,731...31,428,360
Ensembl chr16:31,427,731...31,428,360
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CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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IAGP |
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HPO |
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MIM:614615 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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MIM:617976 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CPSF3 |
cleavage and polyadenylation specific factor 3 |
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IAGP |
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HPO |
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MIM:619876 |
NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101
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CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
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HPO |
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MIM:600649 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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CRB1 |
crumbs cell polarity complex component 1 |
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IAGP |
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HPO |
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MIM:613835 |
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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CRB2 |
crumbs cell polarity complex component 2 |
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IAGP |
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HPO |
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MIM:616220 |
NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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CRBN |
cereblon |
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IAGP |
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HPO |
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MIM:607417 |
NCBI chr 3:3,149,633...3,179,717
Ensembl chr 3:3,144,628...3,179,727
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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MIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CRELD1 |
cysteine rich with EGF like domains 1 |
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IAGP |
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HPO |
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MIM:620771 |
NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
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CRLS1 |
cardiolipin synthase 1 |
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IAGP |
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HPO |
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MIM:620167 |
NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053
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CRX |
cone-rod homeobox |
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IAGP |
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HPO |
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MIM:613829 |
NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
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CRYAB |
crystallin alpha B |
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IAGP |
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HPO |
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MIM:613869 |
NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
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CSF3R |
colony stimulating factor 3 receptor |
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IAGP |
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HPO |
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MIM:617014 |
NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278
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CSNK2A1 |
casein kinase 2 alpha 1 |
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IAGP |
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HPO |
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MIM:617062 |
NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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MIM:617915 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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MIM:612199 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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CTDP1 |
CTD phosphatase subunit 1 |
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IAGP |
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HPO |
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MIM:604168 |
NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503
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CTNNA2 |
catenin alpha 2 |
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IAGP |
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HPO |
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MIM:618174 |
NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861
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CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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MIM:615075 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CTNS |
cystinosin, lysosomal cystine transporter |
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IAGP |
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HPO |
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MIM:219800 |
NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
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CUL3 |
cullin 3 |
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IAGP |
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HPO |
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MIM:619239 |
NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
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CUX1 |
cut like homeobox 1 |
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IAGP |
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HPO |
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MIM:618330 |
NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
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CUX2 |
cut like homeobox 2 |
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IAGP |
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HPO |
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MIM:618141 |
NCBI chr12:111,034,165...111,350,554
Ensembl chr12:111,034,165...111,350,554
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CWF19L1 |
CWF19 like cell cycle control factor 1 |
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IAGP |
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HPO |
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MIM:616127 |
NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680
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CXCR4 |
C-X-C motif chemokine receptor 4 |
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IAGP |
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HPO |
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MIM:193670 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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CYB561 |
cytochrome b561 |
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IAGP |
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HPO |
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MIM:618182 |
NCBI chr17:63,432,304...63,446,639
Ensembl chr17:63,432,304...63,446,354
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CYBB |
cytochrome b-245 beta chain |
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IAGP |
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HPO |
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MIM:300645 |
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYC1 |
cytochrome c1 |
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IAGP |
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HPO |
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MIM:615453 |
NCBI chr 8:144,095,076...144,097,525
Ensembl chr 8:144,095,039...144,097,525
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CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
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IAGP |
DNA:missense mutation:cds:p.A388T |
HPO RGD |
PMID:16490498 |
MIM:231300, RGD:7800719 |
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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CYP24A1 |
cytochrome P450 family 24 subfamily A member 1 |
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IAGP |
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HPO |
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MIM:143880 |
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
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CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
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IAGP |
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HPO |
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MIM:264700 |
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
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IAGP |
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HPO |
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MIM:600081 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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CYP2U1 |
cytochrome P450 family 2 subfamily U member 1 |
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IAGP |
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HPO |
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MIM:615030 |
NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
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D2HGDH |
D-2-hydroxyglutarate dehydrogenase |
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IAGP |
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HPO |
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MIM:600721 |
NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816
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DAG1 |
dystroglycan 1 |
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IAGP |
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HPO |
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MIM:616538 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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DARS1 |
aspartyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:615281 |
NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100
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DAW1 |
dynein assembly factor with WD repeats 1 |
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IAGP |
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HPO |
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MIM:620570 |
NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344
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DBR1 |
debranching RNA lariats 1 |
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IAGP |
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HPO |
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MIM:619441 |
NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949
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DCC |
DCC netrin 1 receptor |
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IAGP |
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HPO |
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MIM:157600 MIM:617542 |
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DCDC2 |
doublecortin domain containing 2 |
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IAGP |
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HPO |
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MIM:616217 MIM:617394 |
NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
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DCLRE1B |
DNA cross-link repair 1B |
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IAGP |
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HPO |
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MIM:620133 |
NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086
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DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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MIM:602450 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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DCX |
doublecortin |
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IAGP |
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HPO |
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MIM:300067 |
NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429
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DDB1 |
damage specific DNA binding protein 1 |
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IAGP |
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HPO |
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MIM:619426 |
NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596
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DDC |
dopa decarboxylase |
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IAGP |
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HPO |
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MIM:608643 |
NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405
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DDHD1 |
DDHD domain containing 1 |
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IAGP |
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HPO |
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MIM:609340 |
NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323
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DDOST |
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit |
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IAGP |
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HPO |
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MIM:614507 |
NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544
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DDX3X |
DEAD-box helicase 3 X-linked |
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IAGP |
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HPO |
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MIM:300958 |
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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DEAF1 |
DEAF1 transcription factor |
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IAGP |
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HPO |
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MIM:615828 MIM:617171 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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DEF6 |
DEF6 guanine nucleotide exchange factor |
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IAGP |
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HPO |
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MIM:619573 |
NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
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DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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IAGP |
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HPO |
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MIM:620504 |
NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
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DGKE |
diacylglycerol kinase epsilon |
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IAGP |
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HPO |
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MIM:615008 |
NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567
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DGUOK |
deoxyguanosine kinase |
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IAGP |
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HPO |
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MIM:251880 |
NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961
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DHPS |
deoxyhypusine synthase |
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IAGP |
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HPO |
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MIM:618480 |
NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880
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DHX30 |
DExH-box helicase 30 |
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IAGP |
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HPO |
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MIM:617804 |
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
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DIAPH1 |
diaphanous related formin 1 |
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IAGP |
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HPO |
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MIM:616632 |
NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
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DIP2B |
disco interacting protein 2 homolog B |
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IAGP |
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HPO |
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MIM:136630 |
NCBI chr12:50,504,985...50,748,657
Ensembl chr12:50,504,985...50,748,657
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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MIM:301108 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DLAT |
dihydrolipoamide S-acetyltransferase |
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IAGP |
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HPO |
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MIM:245348 |
NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404
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DLD |
dihydrolipoamide dehydrogenase |
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IAGP |
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HPO |
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MIM:246900 |
NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
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DLG4 |
discs large MAGUK scaffold protein 4 |
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IAGP |
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HPO |
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MIM:618793 |
NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,836
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DNAAF4 |
dynein axonemal assembly factor 4 |
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IAGP |
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HPO |
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MIM:615482 |
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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DNAAF5 |
dynein axonemal assembly factor 5 |
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IAGP |
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HPO |
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MIM:614874 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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DNAH5 |
dynein axonemal heavy chain 5 |
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IAGP |
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HPO |
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MIM:608644 |
NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
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DNM1 |
dynamin 1 |
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IAGP |
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HPO |
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MIM:616346 MIM:620352 |
NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
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DNM2 |
dynamin 2 |
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IAGP |
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HPO |
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MIM:160150 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
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DOCK11 |
dedicator of cytokinesis 11 |
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IAGP |
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HPO |
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MIM:301109 |
NCBI chr X:118,495,815...118,686,147
Ensembl chr X:118,495,815...118,686,163
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DOCK2 |
dedicator of cytokinesis 2 |
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IAGP |
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HPO |
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MIM:616433 |
NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
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DOCK3 |
dedicator of cytokinesis 3 |
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IAGP |
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HPO |
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MIM:618292 |
NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198
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DOCK7 |
dedicator of cytokinesis 7 |
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IAGP |
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HPO |
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MIM:615859 |
NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
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DOCK8 |
dedicator of cytokinesis 8 |
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IAGP |
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HPO |
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MIM:243700 |
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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DOLK |
dolichol kinase |
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IAGP |
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HPO |
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MIM:610768 |
NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603
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DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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IAGP |
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HPO |
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MIM:608093 MIM:614750 |
NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
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DPF2 |
double PHD fingers 2 |
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IAGP |
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HPO |
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MIM:618027 |
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPH2 |
diphthamide biosynthesis 2 |
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IAGP |
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HPO |
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MIM:620062 |
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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MIM:608799 |
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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MIM: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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MIM:274270 |
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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DRC1 |
dynein regulatory complex subunit 1 |
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IAGP |
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HPO |
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MIM:615294 |
NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
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DSC3 |
desmocollin 3 |
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IAGP |
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HPO |
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MIM:613102 |
NCBI chr18:30,989,365...31,042,742
Ensembl chr18:30,989,365...31,042,815
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DSPP |
dentin sialophosphoprotein |
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IAGP |
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HPO |
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MIM:125420 |
NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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DST |
dystonin |
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IAGP |
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HPO |
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MIM:615425 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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DTYMK |
deoxythymidylate kinase |
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IAGP |
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HPO |
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MIM:619847 |
NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944
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DUT |
deoxyuridine triphosphatase |
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IAGP |
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HPO |
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MIM:620044 |
NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373
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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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MIM:614563 |
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
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G |
DYNC1I2 |
dynein cytoplasmic 1 intermediate chain 2 |
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IAGP |
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HPO |
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MIM:618492 |
NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158
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DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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MIM:614104 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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DZIP1L |
DAZ interacting zinc finger protein 1 like |
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IAGP |
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HPO |
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MIM:617610 |
NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
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EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:614924 |
NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
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EBF3 |
EBF transcription factor 3 |
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IAGP |
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HPO |
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MIM:617330 |
NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
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ECM1 |
extracellular matrix protein 1 |
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IAGP |
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HPO |
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MIM:247100 |
NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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MIM:305100 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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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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MIM:619493 |
NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907
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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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MIM:616409 |
NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
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EFEMP1 |
EGF containing fibulin extracellular matrix protein 1 |
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IAGP |
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HPO |
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MIM:620780 |
NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
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EFL1 |
elongation factor like GTPase 1 |
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IAGP |
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HPO |
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MIM:617941 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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EGR2 |
early growth response 2 |
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IAGP |
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HPO |
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MIM:145900 |
NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167
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G |
EHHADH |
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
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IAGP |
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HPO |
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MIM:615605 |
NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990
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G |
EIF2AK1 |
eukaryotic translation initiation factor 2 alpha kinase 1 |
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IAGP |
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HPO |
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MIM:618878 |
NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175
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G |
EIF2AK2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
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IAGP |
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HPO |
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MIM:618877 |
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
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G |
EIF2AK3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
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IAGP |
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HPO |
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MIM:226980 |
NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518
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G |
EIF2B5 |
eukaryotic translation initiation factor 2B subunit epsilon |
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IAGP |
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HPO |
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MIM:620315 |
NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127
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G |
EIF3F |
eukaryotic translation initiation factor 3 subunit F |
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IAGP |
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HPO |
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MIM:618295 |
NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862
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G |
EIF4A2 |
eukaryotic translation initiation factor 4A2 |
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IAGP |
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HPO |
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MIM:620455 |
NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
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G |
ELAC2 |
elaC ribonuclease Z 2 |
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IAGP |
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HPO |
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MIM:615440 |
NCBI chr17:12,991,612...13,018,027
Ensembl chr17:12,991,612...13,018,065
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ELANE |
elastase, neutrophil expressed |
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IAGP |
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HPO |
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MIM:202700 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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ELF4 |
E74 like ETS transcription factor 4 |
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IAGP |
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HPO |
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MIM:301074 |
NCBI chr X:130,063,955...130,111,927
Ensembl chr X:130,063,955...130,110,716
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G |
ELOVL1 |
ELOVL fatty acid elongase 1 |
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IAGP |
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HPO |
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MIM:618527 |
NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074
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ELP2 |
elongator acetyltransferase complex subunit 2 |
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IAGP |
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HPO |
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MIM:617270 |
NCBI chr18:36,129,899...36,180,557
Ensembl chr18:36,129,444...36,180,557
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:615522 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:180849 MIM:613684 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
EPCAM |
epithelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:613217 |
NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
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IAGP |
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HPO |
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MIM:242840 |
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
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HPO |
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MIM:618196 |
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
EPO |
erythropoietin |
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IAGP |
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HPO |
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MIM:617911 |
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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G |
EPRS1 |
glutamyl-prolyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:617951 |
NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530
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G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:619465 |
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
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HPO |
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MIM:610758 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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MIM:601675 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
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HPO |
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MIM:278780 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:133540 MIM:600630 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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MIM:216400 MIM:614621 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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G |
ERF |
ETS2 repressor factor |
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IAGP |
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HPO |
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MIM:600775 |
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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G |
ERLIN2 |
ER lipid raft associated 2 |
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IAGP |
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HPO |
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MIM:611225 |
NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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G |
ERMARD |
ER membrane associated RNA degradation |
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IAGP |
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HPO |
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MIM:615544 |
NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600
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G |
ETHE1 |
ETHE1 persulfide dioxygenase |
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IAGP |
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HPO |
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MIM:602473 |
NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
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G |
EXOC2 |
exocyst complex component 2 |
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IAGP |
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HPO |
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MIM:619306 |
NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
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EXOC7 |
exocyst complex component 7 |
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IAGP |
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HPO |
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MIM:619072 |
NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576
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G |
EXOSC2 |
exosome component 2 |
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IAGP |
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HPO |
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MIM:617763 |
NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
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G |
EXOSC5 |
exosome component 5 |
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IAGP |
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HPO |
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MIM:619576 |
NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362
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G |
EXOSC8 |
exosome component 8 |
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IAGP |
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HPO |
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MIM:616081 |
NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881
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G |
EXT2 |
exostosin glycosyltransferase 2 |
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IAGP |
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HPO |
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MIM:133701 MIM:616682 |
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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G |
EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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MIM:617425 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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G |
FANCB |
FA complementation group B |
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IAGP |
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HPO |
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MIM:300514 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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G |
FANCL |
FA complementation group L |
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IAGP |
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HPO |
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MIM:614083 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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G |
FAR1 |
fatty acyl-CoA reductase 1 |
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IAGP |
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HPO |
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MIM:619338 |
NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346
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G |
FARSB |
phenylalanyl-tRNA synthetase subunit beta |
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IAGP |
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HPO |
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MIM:613658 |
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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G |
FBP2 |
fructose-bisphosphatase 2 |
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IAGP |
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HPO |
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MIM:619864 |
NCBI chr 9:94,558,720...94,593,824
Ensembl chr 9:94,558,720...94,593,824
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G |
FBXL3 |
F-box and leucine rich repeat protein 3 |
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IAGP |
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HPO |
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MIM:606220 |
NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195
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G |
FCGR2A |
Fc gamma receptor IIa |
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IAGP |
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HPO |
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MIM:219700 |
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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G |
FCGR3A |
Fc gamma receptor IIIa |
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IAGP |
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HPO |
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MIM:615707 |
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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G |
FCHO1 |
FCH and mu domain containing endocytic adaptor 1 |
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IAGP |
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HPO |
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MIM:619164 |
NCBI chr19:17,747,744...17,788,561
Ensembl chr19:17,747,718...17,788,568
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G |
FERMT3 |
FERM domain containing kindlin 3 |
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IAGP |
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HPO |
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MIM:612840 |
NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896
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G |
FGA |
fibrinogen alpha chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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G |
FGB |
fibrinogen beta chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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G |
FGF12 |
fibroblast growth factor 12 |
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IAGP |
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HPO |
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MIM:617166 |
NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
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G |
FGF13 |
fibroblast growth factor 13 |
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IAGP |
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HPO |
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MIM:301058 |
NCBI chr X:138,614,727...139,205,023
Ensembl chr X:138,614,727...139,222,777
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:166250 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FGG |
fibrinogen gamma chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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G |
FHL1 |
four and a half LIM domains 1 |
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IAGP |
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HPO |
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MIM:300280 |
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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MIM:612691 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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G |
FKBP10 |
FKBP prolyl isomerase 10 |
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IAGP |
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HPO |
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MIM:610968 |
NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
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G |
FKTN |
fukutin |
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IAGP |
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HPO |
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MIM:253800 MIM:611588 MIM:613152 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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G |
FLAD1 |
flavin adenine dinucleotide synthetase 1 |
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IAGP |
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HPO |
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MIM:255100 |
NCBI chr 1:154,983,344...154,993,111
Ensembl chr 1:154,983,338...154,993,111
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G |
FLII |
FLII actin remodeling protein |
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IAGP |
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HPO |
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MIM:620635 |
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
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G |
FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:300048 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
FLT4 |
fms related receptor tyrosine kinase 4 |
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IAGP |
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HPO |
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MIM:602089 |
NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
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G |
FMN2 |
formin 2 |
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IAGP |
|
HPO |
|
MIM:616193 |
NCBI chr 1:240,091,883...240,475,187
Ensembl chr 1:240,014,348...240,475,187
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G |
FNIP1 |
folliculin interacting protein 1 |
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IAGP |
|
HPO |
|
MIM:619705 |
NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017
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G |
FOCAD |
focadhesin |
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IAGP |
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HPO |
|
MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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G |
FOXC1 |
forkhead box C1 |
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IAGP |
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HPO |
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MIM:601631 |
NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
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G |
FOXG1 |
forkhead box G1 |
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IAGP |
|
HPO |
|
MIM:613454 |
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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G |
FOXP1 |
forkhead box P1 |
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IAGP |
|
HPO |
|
MIM:613670 |
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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G |
FOXP3 |
forkhead box P3 |
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IAGP |
|
HPO |
|
MIM:304790 |
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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G |
FRMD5 |
FERM domain containing 5 |
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IAGP |
|
HPO |
|
MIM:620094 |
NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271
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G |
FRMD7 |
FERM domain containing 7 |
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IAGP |
|
HPO |
|
MIM:310700 |
NCBI chr X:132,076,990...132,128,020
Ensembl chr X:132,076,990...132,128,020
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G |
FRMPD4 |
FERM and PDZ domain containing 4 |
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IAGP |
|
HPO |
|
MIM:300983 |
NCBI chr X:11,822,439...12,724,523
Ensembl chr X:11,822,423...12,724,523
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G |
FRRS1L |
ferric chelate reductase 1 like |
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IAGP |
|
HPO |
|
MIM:616981 |
NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249
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G |
FTH1 |
ferritin heavy chain 1 |
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IAGP |
|
HPO |
|
MIM:620669 |
NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
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G |
FTSJ1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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IAGP |
|
HPO |
|
MIM:309549 |
NCBI chr X:48,476,021...48,486,364
Ensembl chr X:48,476,021...48,486,364
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G |
FUCA1 |
alpha-L-fucosidase 1 |
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IAGP |
|
HPO |
|
MIM:230000 |
NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
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G |
FYB1 |
FYN binding protein 1 |
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IAGP |
|
HPO |
|
MIM:273900 |
NCBI chr 5:39,105,252...39,274,528
Ensembl chr 5:39,105,252...39,274,528
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G |
FYCO1 |
FYVE and coiled-coil domain autophagy adaptor 1 |
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IAGP |
|
HPO |
|
MIM:610019 |
NCBI chr 3:45,917,903...45,995,824
Ensembl chr 3:45,917,903...45,995,824
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G |
FZD4 |
frizzled class receptor 4 |
|
IAGP |
|
HPO |
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MIM:133780 |
NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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G |
FZR1 |
fizzy and cell division cycle 20 related 1 |
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IAGP |
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HPO |
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MIM:620145 |
NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334
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G |
G6PC1 |
glucose-6-phosphatase catalytic subunit 1 |
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IAGP |
|
HPO |
|
MIM:232200 |
NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
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G |
G6PD |
glucose-6-phosphate dehydrogenase |
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IAGP |
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HPO |
|
MIM:300908 |
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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G |
GABBR1 |
gamma-aminobutyric acid type B receptor subunit 1 |
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IAGP |
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HPO |
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MIM:620502 |
NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976
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G |
GABBR2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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IAGP |
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HPO |
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MIM:617903 MIM:617904 |
NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935
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G |
GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
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IAGP |
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HPO |
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MIM:615744 |
NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
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G |
GABRB1 |
gamma-aminobutyric acid type A receptor subunit beta1 |
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IAGP |
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HPO |
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MIM:617153 |
NCBI chr 4:46,993,647...47,426,447
Ensembl chr 4:46,993,723...47,426,447
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G |
GABRB3 |
gamma-aminobutyric acid type A receptor subunit beta3 |
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IAGP |
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HPO |
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MIM:617113 |
NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539
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G |
GABRG2 |
gamma-aminobutyric acid type A receptor subunit gamma2 |
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IAGP |
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HPO |
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MIM:618396 |
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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G |
GAD1 |
glutamate decarboxylase 1 |
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IAGP |
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HPO |
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MIM:619124 |
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
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G |
GALC |
galactosylceramidase |
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IAGP |
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HPO |
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MIM:245200 |
NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665
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G |
GALNS |
galactosamine (N-acetyl)-6-sulfatase |
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IAGP |
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HPO |
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MIM:253000 |
NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
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G |
GAMT |
guanidinoacetate N-methyltransferase |
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IAGP |
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HPO |
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MIM:612736 |
NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
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G |
GAN |
gigaxonin |
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IAGP |
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HPO |
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MIM:256850 |
NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,884
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G |
GARS1 |
glycyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619042 |
NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
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G |
GATA1 |
GATA binding protein 1 |
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IAGP |
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HPO |
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MIM:300367 MIM:300835 |
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
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G |
GATAD2B |
GATA zinc finger domain containing 2B |
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IAGP |
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HPO |
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MIM:615074 |
NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360
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G |
GATM |
glycine amidinotransferase |
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IAGP |
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HPO |
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MIM:612718 |
NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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MIM:230900 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GCDH |
glutaryl-CoA dehydrogenase |
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IAGP |
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HPO |
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MIM:231670 |
NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
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G |
GCH1 |
GTP cyclohydrolase 1 |
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IAGP |
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HPO |
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MIM:233910 |
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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G |
GCSH |
glycine cleavage system protein H |
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IAGP |
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HPO |
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MIM:620423 |
NCBI chr16:81,081,945...81,096,395
Ensembl chr16:81,081,945...81,096,395
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G |
GDAP1 |
ganglioside induced differentiation associated protein 1 |
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IAGP |
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HPO |
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MIM:214400 MIM:607831 MIM:608340 |
NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
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G |
GEMIN4 |
gem nuclear organelle associated protein 4 |
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IAGP |
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HPO |
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MIM:617913 |
NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999
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G |
GEMIN5 |
gem nuclear organelle associated protein 5 |
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IAGP |
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HPO |
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MIM:619333 |
NCBI chr 5:154,887,411...154,938,211
Ensembl chr 5:154,887,411...154,938,211
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G |
GET4 |
guided entry of tail-anchored proteins factor 4 |
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IAGP |
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HPO |
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MIM:620200 |
NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436
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G |
GFAP |
glial fibrillary acidic protein |
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IAGP |
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HPO |
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MIM:203450 |
NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
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G |
GFI1B |
growth factor independent 1B transcriptional repressor |
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IAGP |
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HPO |
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MIM:187900 |
NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687
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G |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
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IAGP |
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HPO |
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MIM:608931 |
NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
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G |
GGCX |
gamma-glutamyl carboxylase |
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IAGP |
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HPO |
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MIM:277450 |
NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
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G |
GGT1 |
gamma-glutamyltransferase 1 |
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IAGP |
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HPO |
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MIM:231950 |
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
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G |
GH1 |
growth hormone 1 |
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IAGP |
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HPO |
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MIM:262400 |
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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MIM:617525 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GJB2 |
gap junction protein beta 2 |
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IAGP |
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HPO |
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MIM:602540 |
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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G |
GJB3 |
gap junction protein beta 3 |
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IAGP |
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HPO |
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MIM:133200 |
NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
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G |
GJC2 |
gap junction protein gamma 2 |
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IAGP |
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HPO |
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MIM:608804 MIM:613480 |
NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
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G |
GLB1 |
galactosidase beta 1 |
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IAGP |
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HPO |
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MIM:230500 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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G |
GLRA1 |
glycine receptor alpha 1 |
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IAGP |
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HPO |
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MIM:149400 |
NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851
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G |
GLS |
glutaminase |
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IAGP |
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HPO |
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MIM:618339 |
NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
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G |
GLUD1 |
glutamate dehydrogenase 1 |
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IAGP |
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HPO |
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MIM:606762 |
NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
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G |
GLYCTK |
glycerate kinase |
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IAGP |
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HPO |
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MIM:220120 |
NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257
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G |
GM2A |
ganglioside GM2 activator |
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IAGP |
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HPO |
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MIM:272750 |
NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440
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G |
GMPPA |
GDP-mannose pyrophosphorylase A |
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IAGP |
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HPO |
|
MIM:615510 |
NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
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G |
GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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MIM:615350 MIM:615351 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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G |
GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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MIM:615473 MIM:617493 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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MIM:103580 MIM:166350 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GNB1 |
G protein subunit beta 1 |
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IAGP |
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HPO |
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MIM:616973 |
NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
GNB5 |
G protein subunit beta 5 |
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IAGP |
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HPO |
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MIM:617173 MIM:617182 |
NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392
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G |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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IAGP |
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HPO |
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MIM:269921 |
NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
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G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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MIM:252500 MIM:252600 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
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HPO |
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MIM:252940 |
NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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G |
GOLGA2 |
golgin A2 |
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IAGP |
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HPO |
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MIM:620240 |
NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026
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G |
GON7 |
GON7 subunit of KEOPS complex |
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IAGP |
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HPO |
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MIM:619603 |
NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065
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G |
GOSR2 |
golgi SNAP receptor complex member 2 |
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IAGP |
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HPO |
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MIM:620166 |
NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524
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G |
GP6 |
glycoprotein VI platelet |
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IAGP |
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HPO |
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MIM:614201 |
NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264
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G |
GPAA1 |
glycosylphosphatidylinositol anchor attachment 1 |
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IAGP |
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HPO |
|
MIM:617810 |
NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149
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G |
GPD1 |
glycerol-3-phosphate dehydrogenase 1 |
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IAGP |
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HPO |
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MIM:614480 |
NCBI chr12:50,104,008...50,111,313
Ensembl chr12:50,103,982...50,111,313
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G |
GPHN |
gephyrin |
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IAGP |
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HPO |
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MIM:149400 |
NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803
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G |
GPR101 |
G protein-coupled receptor 101 |
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IAGP |
|
HPO |
|
MIM:300942 |
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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G |
GPR143 |
G protein-coupled receptor 143 |
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IAGP |
|
HPO |
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MIM:300814 |
NCBI chr X:9,725,346...9,778,602
Ensembl chr X:9,725,346...9,786,297
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G |
GPRC5B |
G protein-coupled receptor class C group 5 member B |
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IAGP |
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HPO |
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MIM:620447 |
NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167
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G |
GPT2 |
glutamic--pyruvic transaminase 2 |
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IAGP |
|
HPO |
|
MIM:616281 |
NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
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G |
GRHL2 |
grainyhead like transcription factor 2 |
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IAGP |
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HPO |
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MIM:616029 |
NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726
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G |
GRHPR |
glyoxylate and hydroxypyruvate reductase |
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IAGP |
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HPO |
|
MIM:260000 |
NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990
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G |
GRIA1 |
glutamate ionotropic receptor AMPA type subunit 1 |
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IAGP |
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HPO |
|
MIM:619927 MIM:619931 |
NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
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G |
GRIA3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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IAGP |
|
HPO |
|
MIM:300699 |
NCBI chr X:123,184,278...123,490,915
Ensembl chr X:123,184,153...123,490,915
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G |
GRIA4 |
glutamate ionotropic receptor AMPA type subunit 4 |
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IAGP |
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HPO |
|
MIM:617864 |
NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090
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G |
GRID2 |
glutamate ionotropic receptor delta type subunit 2 |
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IAGP |
|
HPO |
|
MIM:616204 |
NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157
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G |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
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IAGP |
|
HPO |
|
MIM:611092 |
NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
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G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
|
MIM:614254 MIM:617820 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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G |
GRIN2B |
glutamate ionotropic receptor NMDA type subunit 2B |
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IAGP |
|
HPO |
|
MIM:616139 |
NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
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G |
GRIN2D |
glutamate ionotropic receptor NMDA type subunit 2D |
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IAGP |
|
HPO |
|
MIM:617162 |
NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931
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G |
GRM1 |
glutamate metabotropic receptor 1 |
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IAGP |
|
HPO |
|
MIM:614831 |
NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
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G |
GTPBP2 |
GTP binding protein 2 |
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IAGP |
|
HPO |
|
MIM:617988 |
NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264
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G |
GTPBP3 |
GTP binding protein 3, mitochondrial |
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IAGP |
|
HPO |
|
MIM:616198 |
NCBI chr19:17,334,982...17,342,731
Ensembl chr19:17,334,920...17,342,731
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G |
GUCY1A1 |
guanylate cyclase 1 soluble subunit alpha 1 |
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IAGP |
|
HPO |
|
MIM:615750 |
NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059
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G |
GUCY2C |
guanylate cyclase 2C |
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IAGP |
|
HPO |
|
MIM:614616 |
NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599
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G |
GUCY2D |
guanylate cyclase 2D, retinal |
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IAGP |
|
HPO |
|
MIM:204000 |
NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
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G |
GUSB |
glucuronidase beta |
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IAGP |
|
HPO |
|
MIM:253220 |
NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
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G |
H3-3B |
H3.3 histone B |
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IAGP |
|
HPO |
|
MIM:619721 |
NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893
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G |
H4C5 |
H4 clustered histone 5 |
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IAGP |
|
HPO |
|
MIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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G |
H4C9 |
H4 clustered histone 9 |
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IAGP |
|
HPO |
|
MIM:619951 |
NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640
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G |
HADHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
|
IAGP |
|
HPO |
|
MIM:609015 |
NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672
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G |
HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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IAGP |
|
HPO |
|
MIM:620300 |
NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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G |
HAX1 |
HCLS1 associated protein X-1 |
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IAGP |
|
HPO |
|
MIM:610738 |
NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875
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G |
HCFC1 |
host cell factor C1 |
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IAGP |
|
HPO |
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MIM:309541 |
NCBI chr X:153,947,557...153,971,818
Ensembl chr X:153,947,557...153,971,818
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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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MIM:615871 |
NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
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HCN2 |
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 |
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IAGP |
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HPO |
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MIM:602477 |
NCBI chr19:589,881...617,159
Ensembl chr19:589,881...617,159
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HCN4 |
hyperpolarization activated cyclic nucleotide gated potassium channel 4 |
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IAGP |
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HPO |
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MIM:619521 |
NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
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HCRT |
hypocretin neuropeptide precursor |
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IAGP |
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HPO |
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MIM:161400 |
NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452
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HDAC4 |
histone deacetylase 4 |
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IAGP |
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HPO |
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MIM:619797 |
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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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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MIM:620250 |
NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
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HEPACAM |
hepatic and glial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:604004 MIM:613925 MIM:613926 |
NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412
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HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
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IAGP |
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HPO |
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MIM:615516 |
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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HEXA |
hexosaminidase subunit alpha |
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IAGP |
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HPO |
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MIM:272800 |
NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420
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HEXB |
hexosaminidase subunit beta |
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IAGP |
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HPO |
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MIM:268800 |
NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
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HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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MIM:203500 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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HIBCH |
3-hydroxyisobutyryl-CoA hydrolase |
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IAGP |
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HPO |
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MIM:250620 |
NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193
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HID1 |
HID1 domain containing |
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IAGP |
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HPO |
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MIM:619983 |
NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
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HIKESHI |
heat shock protein nuclear import factor hikeshi |
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IAGP |
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HPO |
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MIM:616881 |
NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943
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HIVEP2 |
HIVEP zinc finger 2 |
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IAGP |
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HPO |
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MIM:616977 |
NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698
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HMGCR |
3-hydroxy-3-methylglutaryl-CoA reductase |
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IAGP |
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HPO |
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MIM:620375 |
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
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HMGCS2 |
3-hydroxy-3-methylglutaryl-CoA synthase 2 |
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IAGP |
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HPO |
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MIM:605911 |
NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
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HNF1A |
HNF1 homeobox A |
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IAGP |
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HPO |
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MIM:600496 |
NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
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HNMT |
histamine N-methyltransferase |
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IAGP |
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HPO |
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MIM:616739 |
NCBI chr 2:137,964,473...138,016,364
Ensembl chr 2:137,964,020...138,016,364
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HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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IAGP |
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HPO |
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MIM:620460 |
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
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HNRNPC |
heterogeneous nuclear ribonucleoprotein C |
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IAGP |
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HPO |
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MIM:620688 |
NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
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HNRNPH2 |
heterogeneous nuclear ribonucleoprotein H2 |
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IAGP |
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HPO |
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MIM:300986 |
NCBI chr X:101,408,222...101,414,133
Ensembl chr X:101,408,222...101,414,133
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HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
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IAGP |
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HPO |
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MIM:617391 |
NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
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HPD |
4-hydroxyphenylpyruvate dioxygenase |
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IAGP |
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HPO |
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MIM:140350 MIM:276710 |
NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596
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HPDL |
4-hydroxyphenylpyruvate dioxygenase like |
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IAGP |
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HPO |
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MIM:619026 |
NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
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HPRT1 |
hypoxanthine phosphoribosyltransferase 1 |
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IAGP |
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HPO |
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MIM:300322 |
NCBI chr X:134,460,165...134,500,668
Ensembl chr X:134,460,165...134,520,513
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HPS5 |
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 |
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IAGP |
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HPO |
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MIM:614074 |
NCBI chr11:18,278,670...18,322,174
Ensembl chr11:18,278,668...18,322,198
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HPS6 |
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 |
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IAGP |
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HPO |
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MIM:614075 |
NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036
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HSD17B10 |
hydroxysteroid 17-beta dehydrogenase 10 |
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IAGP |
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HPO |
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MIM:300438 |
NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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MIM:255800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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HTT |
huntingtin |
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IAGP |
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HPO |
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MIM:617435 |
NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
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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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MIM:309590 |
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
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HYDIN |
HYDIN axonemal central pair apparatus protein |
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IAGP |
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HPO |
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MIM:608647 |
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616007 |
NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
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IDH3A |
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
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IAGP |
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HPO |
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MIM:619007 |
NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945
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IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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MIM:309900 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:182250 MIM:615846 MIM:619773 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IFITM5 |
interferon induced transmembrane protein 5 |
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IAGP |
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HPO |
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MIM:610967 |
NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
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IFNAR1 |
interferon alpha and beta receptor subunit 1 |
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IAGP |
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HPO |
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MIM:619935 |
NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
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IFNG |
interferon gamma |
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IAGP |
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HPO |
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MIM:613254 MIM:618963 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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MIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IFT56 |
intraflagellar transport 56 |
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IAGP |
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HPO |
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MIM:619534 |
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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IGHM |
immunoglobulin heavy constant mu |
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IAGP |
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HPO |
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MIM:601495 |
NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
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IGLL1 |
immunoglobulin lambda like polypeptide 1 |
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IAGP |
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HPO |
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MIM:613500 |
NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
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IKBKB |
inhibitor of nuclear factor kappa B kinase subunit beta |
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IAGP |
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HPO |
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MIM:615592 |
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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MIM:300636 MIM:301081 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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IL10RB |
interleukin 10 receptor subunit beta |
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IAGP |
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HPO |
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MIM:612567 |
NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420
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IL12B |
interleukin 12B |
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IAGP |
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HPO |
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MIM:614890 |
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL17RC |
interleukin 17 receptor C |
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IAGP |
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HPO |
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MIM:616445 |
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
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IL21 |
interleukin 21 |
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IAGP |
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HPO |
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MIM:615767 |
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL2RB |
interleukin 2 receptor subunit beta |
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IAGP |
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HPO |
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MIM:618495 |
NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
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IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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MIM:300400 MIM:312863 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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IL36RN |
interleukin 36 receptor antagonist |
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IAGP |
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HPO |
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MIM:614204 |
NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
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IL37 |
interleukin 37 |
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IAGP |
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HPO |
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MIM:619398 |
NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882
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IL6R |
interleukin 6 receptor |
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IAGP |
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HPO |
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MIM:618944 |
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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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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MIM:619750 MIM:619752 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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IL7R |
interleukin 7 receptor |
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IAGP |
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HPO |
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MIM:608971 |
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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ILDR1 |
immunoglobulin like domain containing receptor 1 |
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IAGP |
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HPO |
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MIM:609646 |
NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247
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IMPDH1 |
inosine monophosphate dehydrogenase 1 |
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IAGP |
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HPO |
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MIM:180105 |
NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986
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INPP5E |
inositol polyphosphate-5-phosphatase E |
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IAGP |
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HPO |
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MIM:610156 |
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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INPP5K |
inositol polyphosphate-5-phosphatase K |
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IAGP |
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HPO |
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MIM:617404 |
NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742
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INTS11 |
integrator complex subunit 11 |
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IAGP |
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HPO |
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MIM:620428 |
NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687
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IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
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IAGP |
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HPO |
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MIM:309530 |
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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IRAK4 |
interleukin 1 receptor associated kinase 4 |
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IAGP |
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HPO |
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MIM:607676 |
NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
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IREB2 |
iron responsive element binding protein 2 |
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IAGP |
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HPO |
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MIM:618451 |
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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IRF1 |
interferon regulatory factor 1 |
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IAGP |
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HPO |
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MIM:620668 |
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
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IRF2BPL |
interferon regulatory factor 2 binding protein like |
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IAGP |
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HPO |
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MIM:618088 |
NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708
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IRF8 |
interferon regulatory factor 8 |
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IAGP |
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HPO |
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MIM:226990 |
NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606
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ISCA1 |
iron-sulfur cluster assembly 1 |
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IAGP |
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HPO |
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MIM:617613 |
NCBI chr 9:86,264,546...86,282,538
Ensembl chr 9:86,264,546...86,283,102
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G |
ISCA2 |
iron-sulfur cluster assembly 2 |
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IAGP |
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HPO |
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MIM:616370 |
NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106
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G |
ISG15 |
ISG15 ubiquitin like modifier |
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IAGP |
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HPO |
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MIM:616126 |
NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
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ITGA3 |
integrin subunit alpha 3 |
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IAGP |
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HPO |
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MIM:614748 |
NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
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G |
ITGA7 |
integrin subunit alpha 7 |
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IAGP |
|
HPO |
|
MIM:613204 |
NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
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G |
ITPA |
inosine triphosphatase |
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IAGP |
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HPO |
|
MIM:616647 |
NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
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G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
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IAGP |
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HPO |
|
MIM:117360 MIM:206700 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
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G |
JAG1 |
jagged canonical Notch ligand 1 |
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IAGP |
|
HPO |
|
MIM:118450 |
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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G |
JAG2 |
jagged canonical Notch ligand 2 |
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IAGP |
|
HPO |
|
MIM:619566 |
NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
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G |
JAGN1 |
jagunal homolog 1 |
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IAGP |
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HPO |
|
MIM:616022 |
NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349
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G |
JAK2 |
Janus kinase 2 |
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IAGP |
|
HPO |
|
MIM:254450 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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G |
JAK3 |
Janus kinase 3 |
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IAGP |
|
HPO |
|
MIM:600802 |
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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G |
JPH1 |
junctophilin 1 |
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IAGP |
|
HPO |
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MIM:607831 |
NCBI chr 8:74,234,700...74,321,540
Ensembl chr 8:74,234,700...74,321,540
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G |
KARS1 |
lysyl-tRNA synthetase 1 |
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IAGP |
|
HPO |
|
MIM:613916 |
NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
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G |
KAT6B |
lysine acetyltransferase 6B |
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IAGP |
|
HPO |
|
MIM:603736 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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G |
KCNA2 |
potassium voltage-gated channel subfamily A member 2 |
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IAGP |
|
HPO |
|
MIM:616366 |
NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474
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G |
KCNB1 |
potassium voltage-gated channel subfamily B member 1 |
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IAGP |
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HPO |
|
MIM:616056 |
NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297
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G |
KCNC2 |
potassium voltage-gated channel subfamily C member 2 |
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IAGP |
|
HPO |
|
MIM:619913 |
NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839
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G |
KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
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IAGP |
|
HPO |
|
MIM:611816 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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KCNH5 |
potassium voltage-gated channel subfamily H member 5 |
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IAGP |
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HPO |
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MIM:620537 |
NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037
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KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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IAGP |
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HPO |
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MIM:612780 |
NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
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KCNJ11 |
potassium inwardly rectifying channel subfamily J member 11 |
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IAGP |
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HPO |
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MIM:610582 MIM:616329 |
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
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KCNJ13 |
potassium inwardly rectifying channel subfamily J member 13 |
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IAGP |
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HPO |
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MIM:614186 |
NCBI chr 2:232,765,802...232,776,565
Ensembl chr 2:232,765,802...232,776,565
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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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MIM:609446 MIM:617643 MIM:618729 |
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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KCNN2 |
potassium calcium-activated channel subfamily N member 2 |
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IAGP |
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HPO |
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MIM:619725 |
NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500
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KCNN4 |
potassium calcium-activated channel subfamily N member 4 |
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IAGP |
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HPO |
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MIM:616689 |
NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
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KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
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IAGP |
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HPO |
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MIM:613720 |
NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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KCNQ5 |
potassium voltage-gated channel subfamily Q member 5 |
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IAGP |
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HPO |
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MIM:617601 |
NCBI chr 6:72,622,064...73,198,853
Ensembl chr 6:72,621,792...73,198,853
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KCNT1 |
potassium sodium-activated channel subfamily T member 1 |
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IAGP |
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HPO |
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MIM:614959 |
NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
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KCNT2 |
potassium sodium-activated channel subfamily T member 2 |
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IAGP |
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HPO |
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MIM:617771 |
NCBI chr 1:196,225,779...196,608,440
Ensembl chr 1:196,225,779...196,609,225
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KCTD7 |
potassium channel tetramerization domain containing 7 |
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IAGP |
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HPO |
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MIM:611726 |
NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067
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KDELR2 |
KDEL endoplasmic reticulum protein retention receptor 2 |
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IAGP |
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HPO |
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MIM:619131 |
NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190
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KDM4B |
lysine demethylase 4B |
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IAGP |
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HPO |
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MIM:619320 |
NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,611
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KDM5B |
lysine demethylase 5B |
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IAGP |
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HPO |
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MIM:618109 |
NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KDM6B |
lysine demethylase 6B |
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IAGP |
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HPO |
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MIM:618505 |
NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
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KDR |
kinase insert domain receptor |
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IAGP |
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HPO |
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MIM:602089 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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KIDINS220 |
kinase D interacting substrate 220 |
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IAGP |
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HPO |
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MIM:617296 |
NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
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KIF12 |
kinesin family member 12 |
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IAGP |
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HPO |
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MIM:619662 |
NCBI chr 9:114,091,638...114,099,292
Ensembl chr 9:114,086,126...114,099,292
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KIF1A |
kinesin family member 1A |
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IAGP |
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HPO |
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MIM:201300 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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KIF5A |
kinesin family member 5A |
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IAGP |
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HPO |
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MIM:604187 |
NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
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KITLG |
KIT ligand |
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IAGP |
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HPO |
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MIM:145250 |
NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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KLC2 |
kinesin light chain 2 |
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IAGP |
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HPO |
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MIM:609541 |
NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860
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KLHL7 |
kelch like family member 7 |
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IAGP |
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HPO |
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MIM:617055 |
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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KLK4 |
kallikrein related peptidase 4 |
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IAGP |
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HPO |
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MIM:204700 |
NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 |
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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MIM:618512 |
NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
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KMT5B |
lysine methyltransferase 5B |
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IAGP |
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HPO |
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MIM:617788 |
NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852
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KPNA3 |
karyopherin subunit alpha 3 |
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IAGP |
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HPO |
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MIM:620106 |
NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682
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KRT10 |
keratin 10 |
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IAGP |
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HPO |
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MIM:146600 |
NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
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KRT14 |
keratin 14 |
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IAGP |
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HPO |
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MIM:131900 MIM:601001 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT5 |
keratin 5 |
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IAGP |
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HPO |
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MIM:131960 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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KRT81 |
keratin 81 |
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IAGP |
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HPO |
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MIM:158000 |
NCBI chr12:52,285,913...52,291,534
Ensembl chr12:52,285,913...52,291,534
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KRT83 |
keratin 83 |
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IAGP |
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HPO |
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MIM:158000 MIM:617756 |
NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398
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KRT86 |
keratin 86 |
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IAGP |
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HPO |
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MIM:158000 |
NCBI chr12:52,274,645...52,309,163
Ensembl chr12:52,249,300...52,309,163
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L2HGDH |
L-2-hydroxyglutarate dehydrogenase |
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IAGP |
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HPO |
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MIM:236792 |
NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
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LAGE3 |
L antigen family member 3 |
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IAGP |
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HPO |
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MIM:301006 |
NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281
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LAMB2 |
laminin subunit beta 2 |
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IAGP |
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HPO |
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MIM:614199 |
NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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MIM:608840 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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LAT |
linker for activation of T cells |
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IAGP |
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HPO |
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MIM:617514 |
NCBI chr16:28,984,803...28,990,784
Ensembl chr16:28,984,826...28,990,784
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LCA5 |
lebercilin LCA5 |
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IAGP |
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HPO |
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MIM:604537 |
NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
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LCK |
LCK proto-oncogene, Src family tyrosine kinase |
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IAGP |
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HPO |
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MIM:615758 |
NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
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LEPR |
leptin receptor |
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IAGP |
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HPO |
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MIM:614963 |
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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MIM:620089 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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LGI3 |
leucine rich repeat LGI family member 3 |
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IAGP |
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HPO |
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MIM:620007 |
NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084
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LIG1 |
DNA ligase 1 |
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IAGP |
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HPO |
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MIM:619774 |
NCBI chr19:48,115,445...48,170,344
Ensembl chr19:48,115,445...48,170,603
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LINGO1 |
leucine rich repeat and Ig domain containing 1 |
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IAGP |
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HPO |
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MIM:618103 |
NCBI chr15:77,613,027...77,820,900
Ensembl chr15:77,613,027...77,820,900
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G |
LINS1 |
lines homolog 1 |
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IAGP |
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HPO |
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MIM:614340 |
NCBI chr15:100,566,924...100,602,184
Ensembl chr15:100,559,369...100,603,230
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LIPA |
lipase A, lysosomal acid type |
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IAGP |
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HPO |
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MIM:278000 MIM:620151 |
NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
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LIPT1 |
lipoyltransferase 1 |
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IAGP |
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HPO |
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MIM:616299 |
NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157
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LMAN2L |
lectin, mannose binding 2 like |
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IAGP |
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HPO |
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MIM:616887 MIM:617863 |
NCBI chr 2:96,705,929...96,740,064
Ensembl chr 2:96,705,929...96,740,064
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LMBRD1 |
LMBR1 domain containing 1 |
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IAGP |
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HPO |
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MIM:277380 |
NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
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LMBRD2 |
LMBR1 domain containing 2 |
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IAGP |
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HPO |
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MIM:619694 |
NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:613205 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LMNB1 |
lamin B1 |
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IAGP |
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HPO |
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MIM:619179 |
NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
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LOC111365204 |
CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 |
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IAGP |
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HPO |
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MIM:136550 |
NCBI chr 6:99,592,885...99,593,339
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LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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MIM:600373 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRIG2 |
leucine rich repeats and immunoglobulin like domains 2 |
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IAGP |
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HPO |
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MIM:615112 |
NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260
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LRP1 |
LDL receptor related protein 1 |
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IAGP |
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HPO |
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MIM:604093 MIM:620690 |
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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MIM:133780 MIM:259770 MIM:601813 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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LRPPRC |
leucine rich pentatricopeptide repeat containing |
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IAGP |
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HPO |
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MIM:220111 |
NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
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LRRK1 |
leucine rich repeat kinase 1 |
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IAGP |
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HPO |
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MIM:615198 |
NCBI chr15:100,919,357...101,078,257
Ensembl chr15:100,919,327...101,078,257
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LTBP1 |
latent transforming growth factor beta binding protein 1 |
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IAGP |
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HPO |
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MIM:619451 |
NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
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G |
LTV1 |
LTV1 ribosome biogenesis factor |
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IAGP |
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HPO |
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MIM:620199 |
NCBI chr 6:143,843,338...143,863,812
Ensembl chr 6:143,843,338...143,863,812
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LYRM7 |
LYR motif containing 7 |
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IAGP |
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HPO |
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MIM:615838 |
NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428
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LYSET |
lysosomal enzyme trafficking factor |
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IAGP |
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HPO |
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MIM:619345 |
NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463
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LYST |
lysosomal trafficking regulator |
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IAGP |
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HPO |
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MIM:214500 |
NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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MIM:605275 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MACF1 |
microtubule actin crosslinking factor 1 |
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IAGP |
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HPO |
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MIM:618325 |
NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
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MAFB |
MAF bZIP transcription factor B |
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IAGP |
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HPO |
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MIM:166300 |
NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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MIM:615547 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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G |
MAGI2 |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
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IAGP |
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HPO |
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MIM:617609 |
NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667
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G |
MALT1 |
MALT1 paracaspase |
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IAGP |
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HPO |
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MIM:615468 |
NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477
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MANBA |
mannosidase beta |
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IAGP |
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HPO |
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MIM:248510 |
NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994
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G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
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IAGP |
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HPO |
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MIM:615280 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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G |
MAP3K14 |
mitogen-activated protein kinase kinase kinase 14 |
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IAGP |
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HPO |
|
MIM:620449 |
NCBI chr17:45,263,119...45,317,020
Ensembl chr17:45,263,119...45,317,029
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G |
MAPK8IP3 |
mitogen-activated protein kinase 8 interacting protein 3 |
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IAGP |
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HPO |
|
MIM:618443 |
NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
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G |
MARS1 |
methionyl-tRNA synthetase 1 |
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IAGP |
|
HPO |
|
MIM:615486 MIM:619692 MIM:620323 |
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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MAST1 |
microtubule associated serine/threonine kinase 1 |
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IAGP |
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HPO |
|
MIM:618273 |
NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952
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G |
MAST3 |
microtubule associated serine/threonine kinase 3 |
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IAGP |
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HPO |
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MIM:620115 |
NCBI chr19:18,097,778...18,151,687
Ensembl chr19:18,097,778...18,151,692
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MATN3 |
matrilin 3 |
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IAGP |
|
HPO |
|
MIM:608728 |
NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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G |
MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
|
HPO |
|
MIM:156200 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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G |
MBOAT7 |
membrane bound O-acyltransferase domain containing 7 |
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IAGP |
|
HPO |
|
MIM:617188 |
NCBI chr19:54,173,415...54,189,580
Ensembl chr19:54,173,412...54,189,882
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G |
MBTPS1 |
membrane bound transcription factor peptidase, site 1 |
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IAGP |
|
HPO |
|
MIM:618392 |
NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942
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G |
MCCC1 |
methylcrotonyl-CoA carboxylase subunit 1 |
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IAGP |
|
HPO |
|
MIM:210200 |
NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075
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G |
MCCC2 |
methylcrotonyl-CoA carboxylase subunit 2 |
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IAGP |
|
HPO |
|
MIM:210210 |
NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706
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G |
MCEE |
methylmalonyl-CoA epimerase |
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IAGP |
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HPO |
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MIM:251120 |
NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239
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MCM5 |
minichromosome maintenance complex component 5 |
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IAGP |
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HPO |
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MIM:617564 |
NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,134...35,425,431
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MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
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HPO |
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MIM:252650 |
NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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MCTS1 |
MCTS1 re-initiation and release factor |
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IAGP |
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HPO |
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MIM:301115 |
NCBI chr X:120,604,101...120,621,159
Ensembl chr X:120,594,010...120,621,159
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MDH2 |
malate dehydrogenase 2 |
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IAGP |
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HPO |
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MIM:617339 |
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
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HPO |
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MIM:300055 |
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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MIM:309520 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MED13L |
mediator complex subunit 13L |
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IAGP |
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HPO |
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MIM:616789 |
NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
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MED17 |
mediator complex subunit 17 |
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IAGP |
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HPO |
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MIM:613668 |
NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963
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MED23 |
mediator complex subunit 23 |
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IAGP |
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HPO |
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MIM:614249 |
NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242
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MED25 |
mediator complex subunit 25 |
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IAGP |
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HPO |
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MIM:616449 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
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MEF2C |
myocyte enhancer factor 2C |
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IAGP |
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HPO |
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MIM:613443 |
NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257
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MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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MIM:249100 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MEGF10 |
multiple EGF like domains 10 |
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IAGP |
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HPO |
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MIM:620249 |
NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
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METTL23 |
methyltransferase 23, arginine |
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IAGP |
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HPO |
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MIM:615942 |
NCBI chr17:76,726,041...76,733,881
Ensembl chr17:76,726,830...76,733,936
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MFF |
mitochondrial fission factor |
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IAGP |
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HPO |
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MIM:617086 |
NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
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MFN2 |
mitofusin 2 |
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IAGP |
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HPO |
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MIM:601152 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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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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MIM:212066 |
NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
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MIA3 |
MIA SH3 domain ER export factor 3 |
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IAGP |
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HPO |
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MIM:619269 |
NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007
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MICOS13 |
mitochondrial contact site and cristae organizing system subunit 13 |
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IAGP |
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HPO |
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MIM:618329 |
NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516
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MID2 |
midline 2 |
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IAGP |
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HPO |
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MIM:300928 |
NCBI chr X:107,825,735...107,931,637
Ensembl chr X:107,825,755...107,931,637
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MIPEP |
mitochondrial intermediate peptidase |
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IAGP |
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HPO |
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MIM:617228 |
NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400
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MLC1 |
modulator of VRAC current 1 |
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IAGP |
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HPO |
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MIM:604004 |
NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426
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MLIP |
muscular LMNA interacting protein |
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IAGP |
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HPO |
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MIM:620138 |
NCBI chr 6:54,018,970...54,266,280
Ensembl chr 6:53,929,982...54,266,280
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MMAA |
metabolism of cobalamin associated A |
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IAGP |
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HPO |
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MIM:251100 |
NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033
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MMAB |
metabolism of cobalamin associated B |
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IAGP |
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HPO |
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MIM:251110 |
NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580
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MMACHC |
metabolism of cobalamin associated C |
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IAGP |
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HPO |
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MIM:277400 |
NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
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MMADHC |
metabolism of cobalamin associated D |
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IAGP |
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HPO |
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MIM:277410 |
NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778
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MMP1 |
matrix metallopeptidase 1 |
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IAGP |
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HPO |
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MIM:226600 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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MIM:250400 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP14 |
matrix metallopeptidase 14 |
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IAGP |
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HPO |
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MIM:277950 |
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2 |
matrix metallopeptidase 2 |
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IAGP |
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HPO |
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MIM:259600 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9 |
matrix metallopeptidase 9 |
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IAGP |
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HPO |
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MIM:613073 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MMUT |
methylmalonyl-CoA mutase |
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IAGP |
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HPO |
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MIM:251000 |
NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
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MPDU1 |
mannose-P-dolichol utilization defect 1 |
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IAGP |
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HPO |
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MIM:609180 |
NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
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MPI |
mannose phosphate isomerase |
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IAGP |
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HPO |
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MIM:602579 |
NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219
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MPL |
MPL proto-oncogene, thrombopoietin receptor |
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IAGP |
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HPO |
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MIM:254450 |
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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MPV17 |
mitochondrial inner membrane protein MPV17 |
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IAGP |
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HPO |
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MIM:256810 |
NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
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MPZ |
myelin protein zero |
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IAGP |
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HPO |
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MIM:145900 MIM:618184 |
NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968
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MRPL3 |
mitochondrial ribosomal protein L3 |
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IAGP |
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HPO |
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MIM:614582 |
NCBI chr 3:131,462,212...131,502,971
Ensembl chr 3:131,462,212...131,502,983
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MRPL39 |
mitochondrial ribosomal protein L39 |
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IAGP |
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HPO |
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MIM:620646 |
NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517
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MRPL44 |
mitochondrial ribosomal protein L44 |
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IAGP |
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HPO |
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MIM:615395 |
NCBI chr 2:223,950,854...223,967,714
Ensembl chr 2:223,957,463...223,967,714
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MRPS2 |
mitochondrial ribosomal protein S2 |
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IAGP |
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HPO |
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MIM:617950 |
NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673
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MRPS25 |
mitochondrial ribosomal protein S25 |
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IAGP |
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HPO |
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MIM:619025 |
NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339
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MRPS34 |
mitochondrial ribosomal protein S34 |
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IAGP |
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HPO |
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MIM:617664 |
NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150
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MRPS7 |
mitochondrial ribosomal protein S7 |
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IAGP |
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HPO |
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MIM:617872 |
NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376
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MSX2 |
msh homeobox 2 |
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IAGP |
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HPO |
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MIM:604757 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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MT-TN |
mitochondrially encoded tRNA-Asn (AAU/C) |
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IAGP |
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HPO |
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MIM:220110 |
NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729
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MT-TS1 |
mitochondrially encoded tRNA-Ser (UCN) 1 |
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IAGP |
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HPO |
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MIM:220110 |
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TT |
mitochondrially encoded tRNA-Thr (ACN) |
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IAGP |
ClinVar Annotator: match by term: Onset in infancy |
ClinVar |
PMID:1379415 PMID:1645537 PMID:8511015 PMID:22638997 PMID:25741868 PMID:29760464 PMID:30236074 More...
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NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
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MTFMT |
mitochondrial methionyl-tRNA formyltransferase |
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IAGP |
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HPO |
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MIM:618248 |
NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
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MTHFD1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
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IAGP |
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HPO |
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MIM:617780 |
NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
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MTHFS |
methenyltetrahydrofolate synthetase |
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IAGP |
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HPO |
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MIM:618367 |
NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
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MTMR14 |
myotubularin related protein 14 |
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IAGP |
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HPO |
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MIM:160150 |
NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393
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MTO1 |
mitochondrial tRNA translation optimization 1 |
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IAGP |
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HPO |
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MIM:614702 |
NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236
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MTOR |
mechanistic target of rapamycin kinase |
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IAGP |
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HPO |
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MIM:607341 MIM:616638 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MTPAP |
mitochondrial poly(A) polymerase |
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IAGP |
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HPO |
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MIM:613672 |
NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448
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MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
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IAGP |
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HPO |
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MIM:250940 |
NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
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MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
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IAGP |
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HPO |
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MIM:236270 |
NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
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MTSS2 |
MTSS I-BAR domain containing 2 |
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IAGP |
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HPO |
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MIM:620086 |
NCBI chr16:70,661,204...70,686,053
Ensembl chr16:70,661,204...70,686,053
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MTX2 |
metaxin 2 |
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IAGP |
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HPO |
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MIM:619127 |
NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
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MUSK |
muscle associated receptor tyrosine kinase |
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IAGP |
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HPO |
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MIM:616325 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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MVK |
mevalonate kinase |
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IAGP |
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HPO |
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MIM:260920 MIM:610377 |
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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MIM:193700 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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MYH7 |
myosin heavy chain 7 |
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IAGP |
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HPO |
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MIM:160500 MIM:613426 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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MYMK |
myomaker, myoblast fusion factor |
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IAGP |
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HPO |
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MIM:254940 |
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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MIM:619941 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,236
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MYO5A |
myosin VA |
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IAGP |
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HPO |
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MIM:214450 |
NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
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MYO5B |
myosin VB |
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IAGP |
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HPO |
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MIM:619868 |
NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164
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MYO7A |
myosin VIIA |
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IAGP |
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HPO |
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MIM:276900 |
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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MYT1L |
myelin transcription factor 1 like |
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IAGP |
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HPO |
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MIM:616521 |
NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664
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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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MIM:619717 |
NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655
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NACC1 |
nucleus accumbens associated 1 |
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IAGP |
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HPO |
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MIM:617393 |
NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147
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NADK2 |
NAD kinase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616034 |
NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279
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NAGA |
alpha-N-acetylgalactosaminidase |
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IAGP |
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HPO |
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MIM:609241 |
NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
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NAPB |
NSF attachment protein beta |
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IAGP |
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HPO |
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MIM:620033 |
NCBI chr20:23,374,522...23,421,488
Ensembl chr20:23,374,519...23,421,519
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NARS1 |
asparaginyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619091 |
NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213
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NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616239 |
NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194
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NAXD |
NAD(P)HX dehydratase |
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IAGP |
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HPO |
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MIM:618321 |
NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996
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NAXE |
NAD(P)HX epimerase |
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IAGP |
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HPO |
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MIM:617186 |
NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,756...156,609,507
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NBAS |
NBAS subunit of NRZ tethering complex |
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IAGP |
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HPO |
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MIM:616483 |
NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340
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NBEA |
neurobeachin |
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IAGP |
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HPO |
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MIM:619157 |
NCBI chr13:34,942,270...35,672,736
Ensembl chr13:34,942,270...35,673,022
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NCAPD3 |
non-SMC condensin II complex subunit D3 |
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IAGP |
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HPO |
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MIM:617984 |
NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504
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NCDN |
neurochondrin |
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IAGP |
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HPO |
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MIM:619373 |
NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274
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NCF2 |
neutrophil cytosolic factor 2 |
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IAGP |
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HPO |
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MIM:233710 |
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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NCKAP1L |
NCK associated protein 1 like |
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IAGP |
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HPO |
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MIM:618982 |
NCBI chr12:54,497,752...54,548,243
Ensembl chr12:54,497,752...54,548,243
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NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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MIM:305390 MIM:310600 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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NDST1 |
N-deacetylase and N-sulfotransferase 1 |
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IAGP |
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HPO |
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MIM:616116 |
NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211
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NDUFA1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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IAGP |
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HPO |
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MIM:301020 |
NCBI chr X:119,871,832...119,876,662
Ensembl chr X:119,871,832...119,876,662
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NDUFA10 |
NADH:ubiquinone oxidoreductase subunit A10 |
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IAGP |
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HPO |
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MIM:618243 |
NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743
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NDUFA12 |
NADH:ubiquinone oxidoreductase subunit A12 |
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IAGP |
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HPO |
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MIM:618244 |
NCBI chr12:94,971,333...95,003,697
Ensembl chr12:94,895,297...95,003,748
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NDUFA13 |
NADH:ubiquinone oxidoreductase subunit A13 |
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IAGP |
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HPO |
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MIM:618249 |
NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054
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NDUFA2 |
NADH:ubiquinone oxidoreductase subunit A2 |
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IAGP |
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HPO |
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MIM:618235 |
NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771
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NDUFA6 |
NADH:ubiquinone oxidoreductase subunit A6 |
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IAGP |
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HPO |
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MIM:618253 |
NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884
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NDUFA8 |
NADH:ubiquinone oxidoreductase subunit A8 |
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IAGP |
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HPO |
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MIM:619272 |
NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779
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NDUFAF1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
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IAGP |
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HPO |
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MIM:618234 |
NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403
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NDUFAF3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
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IAGP |
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HPO |
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MIM:618240 |
NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495
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NDUFAF6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
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IAGP |
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HPO |
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MIM:618239 |
NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
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NDUFAF8 |
NADH:ubiquinone oxidoreductase complex assembly factor 8 |
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IAGP |
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HPO |
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MIM:618776 |
NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310
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NDUFB8 |
NADH:ubiquinone oxidoreductase subunit B8 |
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IAGP |
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HPO |
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MIM:618252 |
NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,668...100,530,000
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NDUFB9 |
NADH:ubiquinone oxidoreductase subunit B9 |
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IAGP |
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HPO |
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MIM:618245 |
NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648
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NDUFC2 |
NADH:ubiquinone oxidoreductase subunit C2 |
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IAGP |
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HPO |
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MIM:619170 |
NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862
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NDUFS1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
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IAGP |
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HPO |
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MIM:618226 |
NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
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NDUFS2 |
NADH:ubiquinone oxidoreductase core subunit S2 |
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IAGP |
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HPO |
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MIM:618228 |
NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723
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NDUFS4 |
NADH:ubiquinone oxidoreductase subunit S4 |
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IAGP |
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HPO |
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MIM:252010 |
NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
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NDUFV1 |
NADH:ubiquinone oxidoreductase core subunit V1 |
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IAGP |
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HPO |
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MIM:618225 |
NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554
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NDUFV2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
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IAGP |
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HPO |
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MIM:618229 |
NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345
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NEB |
nebulin |
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IAGP |
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HPO |
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MIM:256030 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
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NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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MIM:617201 |
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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NEFL |
neurofilament light chain |
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IAGP |
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HPO |
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MIM:607734 |
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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NEK10 |
NIMA related kinase 10 |
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IAGP |
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HPO |
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MIM:618781 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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NEMF |
nuclear export mediator factor |
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IAGP |
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HPO |
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MIM:619099 |
NCBI chr14:49,782,083...49,852,788
Ensembl chr14:49,782,083...49,852,821
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NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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MIM:618374 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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NEXMIF |
neurite extension and migration factor |
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IAGP |
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HPO |
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MIM: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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MIM:162200 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NFE2L2 |
NFE2 like bZIP transcription factor 2 |
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IAGP |
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HPO |
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MIM:617744 |
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NFIA |
nuclear factor I A |
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IAGP |
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HPO |
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MIM:613735 |
NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
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NFKBIA |
NFKB inhibitor alpha |
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IAGP |
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HPO |
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MIM:612132 |
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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NFU1 |
NFU1 iron-sulfur cluster scaffold |
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IAGP |
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HPO |
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MIM:605711 |
NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628
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NGF |
nerve growth factor |
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IAGP |
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HPO |
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MIM:608654 |
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NGLY1 |
N-glycanase 1 |
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IAGP |
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HPO |
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MIM:615273 |
NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039
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G |
NKX2-1 |
NK2 homeobox 1 |
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IAGP |
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HPO |
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MIM:118700 |
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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G |
NKX6-2 |
NK6 homeobox 2 |
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IAGP |
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HPO |
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MIM:617560 |
NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147
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NLRC4 |
NLR family CARD domain containing 4 |
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IAGP |
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HPO |
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MIM:616115 |
NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
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NLRP1 |
NLR family pyrin domain containing 1 |
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IAGP |
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HPO |
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MIM:617388 |
NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
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NLRP12 |
NLR family pyrin domain containing 12 |
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IAGP |
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HPO |
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MIM:611762 |
NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,792,139...53,824,403
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NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
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HPO |
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MIM:120100 MIM:191900 MIM:607115 |
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
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IAGP |
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HPO |
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MIM:608553 MIM:619260 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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NOS1AP |
nitric oxide synthase 1 adaptor protein |
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IAGP |
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HPO |
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MIM:619155 |
NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
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G |
NOTCH2NLC |
notch 2 N-terminal like C |
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IAGP |
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HPO |
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MIM:619473 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
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NPHP3 |
nephrocystin 3 |
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IAGP |
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HPO |
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MIM:208540 MIM:604387 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
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IAGP |
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HPO |
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MIM:300200 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
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IAGP |
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HPO |
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MIM:617049 |
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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NR4A2 |
nuclear receptor subfamily 4 group A member 2 |
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IAGP |
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HPO |
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MIM:619911 |
NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
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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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MIM:619695 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NSRP1 |
nuclear speckle splicing regulatory protein 1 |
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IAGP |
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HPO |
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MIM:620001 |
NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475
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NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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MIM:611091 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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G |
NSUN3 |
NOP2/Sun RNA methyltransferase 3 |
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IAGP |
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HPO |
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MIM:619012 |
NCBI chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832
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NSUN6 |
NOP2/Sun RNA methyltransferase 6 |
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IAGP |
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HPO |
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MIM:620779 |
NCBI chr10:18,545,561...18,659,327
Ensembl chr10:18,545,561...18,659,285
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G |
NT5C2 |
5'-nucleotidase, cytosolic II |
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IAGP |
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HPO |
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MIM:613162 |
NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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IAGP |
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HPO |
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MIM:256800 |
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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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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MIM:613886 |
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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NUP62 |
nucleoporin 62 |
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IAGP |
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HPO |
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MIM:271930 |
NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764
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OAS1 |
2'-5'-oligoadenylate synthetase 1 |
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IAGP |
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HPO |
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MIM:618042 |
NCBI chr12:112,906,962...112,933,219
Ensembl chr12:112,905,856...112,933,219
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OCLN |
occludin |
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IAGP |
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HPO |
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MIM:251290 |
NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
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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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MIM:300209 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OGDH |
oxoglutarate dehydrogenase |
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IAGP |
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HPO |
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MIM:203740 |
NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,572...44,709,066
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OGDHL |
oxoglutarate dehydrogenase L |
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IAGP |
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HPO |
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MIM:619701 |
NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IAGP |
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HPO |
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MIM:210000 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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OPHN1 |
oligophrenin 1 |
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IAGP |
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HPO |
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MIM:300486 |
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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OSTM1 |
osteoclastogenesis associated transmembrane protein 1 |
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IAGP |
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HPO |
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MIM:259720 |
NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854
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OTC |
ornithine transcarbamylase |
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IAGP |
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HPO |
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MIM:311250 |
NCBI chr X:38,327,684...38,422,928
Ensembl chr X:38,327,598...38,422,908
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G |
OTULIN |
OTU deubiquitinase with linear linkage specificity |
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IAGP |
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HPO |
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MIM:617099 |
NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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MIM:112240 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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G |
P4HTM |
prolyl 4-hydroxylase, transmembrane |
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IAGP |
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HPO |
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MIM:618493 |
NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
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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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MIM:618067 |
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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G |
PAK1 |
p21 (RAC1) activated kinase 1 |
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IAGP |
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HPO |
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MIM:618158 |
NCBI chr11:77,322,017...77,530,009
Ensembl chr11:77,322,017...77,474,635
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G |
PANK2 |
pantothenate kinase 2 |
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IAGP |
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HPO |
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MIM:234200 |
NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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MIM:616353 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PC |
pyruvate carboxylase |
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IAGP |
|
HPO |
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MIM:266150 |
NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386
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G |
PCDH12 |
protocadherin 12 |
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IAGP |
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HPO |
|
MIM:251280 |
NCBI chr 5:141,943,581...141,958,202
Ensembl chr 5:141,943,581...141,969,741
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PCDH19 |
protocadherin 19 |
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IAGP |
|
HPO |
|
MIM:300088 |
NCBI chr X:100,291,644...100,410,273
Ensembl chr X:100,291,644...100,410,273
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G |
PCDHGC4 |
protocadherin gamma subfamily C, 4 |
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IAGP |
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HPO |
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MIM:619880 |
NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975
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G |
PCK1 |
phosphoenolpyruvate carboxykinase 1 |
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IAGP |
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HPO |
|
MIM:261680 |
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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G |
PCLO |
piccolo presynaptic cytomatrix protein |
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IAGP |
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HPO |
|
MIM:608027 |
NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930
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G |
PCNA |
proliferating cell nuclear antigen |
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IAGP |
|
HPO |
|
MIM:615919 |
NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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G |
PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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MIM:608940 MIM:620680 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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G |
PDE10A |
phosphodiesterase 10A |
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IAGP |
|
HPO |
|
MIM:616921 |
NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117
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G |
PDE2A |
phosphodiesterase 2A |
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IAGP |
|
HPO |
|
MIM:619150 |
NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
|
MIM:228550 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PDHA1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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IAGP |
|
HPO |
|
MIM:312170 |
NCBI chr X:19,343,927...19,361,718
Ensembl chr X:19,343,893...19,361,718
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G |
PDZD7 |
PDZ domain containing 7 |
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IAGP |
|
HPO |
|
MIM:618003 |
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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G |
PDZD8 |
PDZ domain containing 8 |
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IAGP |
|
HPO |
|
MIM:620021 |
NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440
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G |
PERP |
p53 apoptosis effector related to PMP22 |
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IAGP |
|
HPO |
|
MIM:619208 |
NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
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G |
PET100 |
PET100 cytochrome c oxidase chaperone |
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IAGP |
|
HPO |
|
MIM:619055 |
NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
IAGP |
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HPO |
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MIM:214100 MIM:234580 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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G |
PEX12 |
peroxisomal biogenesis factor 12 |
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IAGP |
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HPO |
|
MIM:266510 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
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G |
PEX14 |
peroxisomal biogenesis factor 14 |
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IAGP |
|
HPO |
|
MIM:614887 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
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G |
PEX16 |
peroxisomal biogenesis factor 16 |
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IAGP |
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HPO |
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MIM:614877 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
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G |
PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
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HPO |
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MIM:614867 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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G |
PGAP1 |
post-GPI attachment to proteins inositol deacylase 1 |
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IAGP |
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HPO |
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MIM:615802 |
NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
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G |
PGAP2 |
post-GPI attachment to proteins 2 |
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IAGP |
|
HPO |
|
MIM:614207 |
NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
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G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
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IAGP |
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HPO |
|
MIM:615716 |
NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
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G |
PGM2L1 |
phosphoglucomutase 2 like 1 |
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IAGP |
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HPO |
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MIM:620191 |
NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433
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G |
PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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MIM:307800 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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G |
PHIP |
pleckstrin homology domain interacting protein |
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IAGP |
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HPO |
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MIM:617991 |
NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287
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G |
PHKA2 |
phosphorylase kinase regulatory subunit alpha 2 |
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IAGP |
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HPO |
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MIM:306000 |
NCBI chr X:18,892,298...18,984,114
Ensembl chr X:18,892,298...18,984,114
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G |
PHKB |
phosphorylase kinase regulatory subunit beta |
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IAGP |
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HPO |
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MIM:261750 |
NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523
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G |
PHKG2 |
phosphorylase kinase catalytic subunit gamma 2 |
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IAGP |
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HPO |
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MIM:613027 |
NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176
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G |
PHOX2B |
paired like homeobox 2B |
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IAGP |
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HPO |
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MIM:209880 |
NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
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G |
PI4K2A |
phosphatidylinositol 4-kinase type 2 alpha |
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IAGP |
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HPO |
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MIM:620732 |
NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434
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G |
PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
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HPO |
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MIM:619621 MIM:619708 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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G |
PIDD1 |
p53-induced death domain protein 1 |
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IAGP |
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HPO |
|
MIM:619827 |
NCBI chr11:799,184...809,501
Ensembl chr11:799,179...809,753
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G |
PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
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IAGP |
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HPO |
|
MIM:300868 MIM:301072 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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G |
PIGC |
phosphatidylinositol glycan anchor biosynthesis class C |
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IAGP |
|
HPO |
|
MIM:617816 |
NCBI chr 1:172,441,457...172,444,069
Ensembl chr 1:172,370,189...172,444,086
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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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MIM:616917 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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G |
PIGK |
phosphatidylinositol glycan anchor biosynthesis class K |
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IAGP |
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HPO |
|
MIM:618879 |
NCBI chr 1:77,088,989...77,219,430
Ensembl chr 1:77,088,989...77,219,430
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G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
|
MIM:280000 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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G |
PIGM |
phosphatidylinositol glycan anchor biosynthesis class M |
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IAGP |
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HPO |
|
MIM:610293 |
NCBI chr 1:160,024,953...160,031,990
Ensembl chr 1:160,024,953...160,031,990
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G |
PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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MIM:617599 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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G |
PIGS |
phosphatidylinositol glycan anchor biosynthesis class S |
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IAGP |
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HPO |
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MIM:618143 |
NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
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G |
PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
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IAGP |
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HPO |
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MIM:615398 |
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
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G |
PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
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IAGP |
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HPO |
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MIM:616025 |
NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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IAGP |
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HPO |
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MIM:619281 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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MIM:615214 MIM:616005 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PINK1 |
PTEN induced kinase 1 |
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IAGP |
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HPO |
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MIM:605909 |
NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
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G |
PITRM1 |
pitrilysin metallopeptidase 1 |
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IAGP |
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HPO |
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MIM:619405 |
NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841
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G |
PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
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HPO |
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MIM:263200 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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G |
PLAA |
phospholipase A2 activating protein |
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IAGP |
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HPO |
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MIM:617527 |
NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
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G |
PLAAT3 |
phospholipase A and acyltransferase 3 |
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IAGP |
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HPO |
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MIM:620683 |
NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883
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G |
PLCB1 |
phospholipase C beta 1 |
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IAGP |
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HPO |
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MIM:613722 |
NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
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G |
PLCE1 |
phospholipase C epsilon 1 |
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IAGP |
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HPO |
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MIM:610725 |
NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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G |
PLCG2 |
phospholipase C gamma 2 |
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IAGP |
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HPO |
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MIM:614468 MIM:614878 |
NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
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G |
PLEKHG2 |
pleckstrin homology and RhoGEF domain containing G2 |
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IAGP |
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HPO |
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MIM:616763 |
NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415
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G |
PLG |
plasminogen |
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IAGP |
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HPO |
|
MIM:217090 |
NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097
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G |
PLP1 |
proteolipid protein 1 |
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IAGP |
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HPO |
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MIM:312080 MIM:312920 |
NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619
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G |
PLPBP |
pyridoxal phosphate binding protein |
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IAGP |
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HPO |
|
MIM:617290 |
NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768
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G |
PLS1 |
plastin 1 |
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IAGP |
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HPO |
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MIM:618787 |
NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664
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G |
PLXND1 |
plexin D1 |
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IAGP |
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HPO |
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MIM:620294 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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G |
PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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MIM:212065 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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G |
PMP22 |
peripheral myelin protein 22 |
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IAGP |
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HPO |
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MIM:145900 |
NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
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G |
PMPCA |
peptidase, mitochondrial processing subunit alpha |
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IAGP |
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HPO |
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MIM:213200 |
NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992
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G |
PMPCB |
peptidase, mitochondrial processing subunit beta |
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IAGP |
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HPO |
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MIM:617954 |
NCBI chr 7:103,297,435...103,347,542
Ensembl chr 7:103,297,407...103,331,818
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G |
PNKD |
PNKD metallo-beta-lactamase domain containing |
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IAGP |
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HPO |
|
MIM:118800 |
NCBI chr 2:218,270,519...218,346,793
Ensembl chr 2:218,269,651...218,346,793
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G |
PNP |
purine nucleoside phosphorylase |
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IAGP |
|
HPO |
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MIM:613179 |
NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094
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G |
PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
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IAGP |
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HPO |
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MIM:614932 |
NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863
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G |
POC1B |
POC1 centriolar protein B |
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IAGP |
|
HPO |
|
MIM:615973 |
NCBI chr12:89,401,467...89,526,047
Ensembl chr12:89,419,718...89,526,047
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G |
POGZ |
pogo transposable element derived with ZNF domain |
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IAGP |
|
HPO |
|
MIM:616364 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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G |
POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
|
HPO |
|
MIM:618336 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
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HPO |
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MIM:203700 MIM:613662 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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G |
POLG2 |
DNA polymerase gamma 2, accessory subunit |
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IAGP |
|
HPO |
|
MIM:618528 |
NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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G |
POLH |
DNA polymerase eta |
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IAGP |
|
HPO |
|
MIM:278750 |
NCBI chr 6:43,576,185...43,620,523
Ensembl chr 6:43,576,185...43,620,523
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G |
POLR1A |
RNA polymerase I subunit A |
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IAGP |
|
HPO |
|
MIM:616462 MIM:620675 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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G |
POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
|
MIM:616494 |
NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
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G |
POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
|
MIM:607694 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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G |
POLR3B |
RNA polymerase III subunit B |
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IAGP |
|
HPO |
|
MIM:607694 MIM:619742 |
NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
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G |
POLR3K |
RNA polymerase III subunit K |
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IAGP |
|
HPO |
|
MIM:619310 |
NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608
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G |
POLRMT |
RNA polymerase mitochondrial |
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IAGP |
|
HPO |
|
MIM:619743 |
NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
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G |
POMC |
proopiomelanocortin |
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IAGP |
|
HPO |
|
MIM:609734 |
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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IAGP |
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HPO |
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MIM:618135 |
NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
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G |
POMK |
protein O-mannose kinase |
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IAGP |
|
HPO |
|
MIM:616094 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
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G |
POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
|
HPO |
|
MIM:613155 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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G |
POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
|
HPO |
|
MIM:613158 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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G |
POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
|
HPO |
|
MIM:613038 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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G |
PPA2 |
inorganic pyrophosphatase 2 |
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IAGP |
|
HPO |
|
MIM:617222 |
NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067
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G |
PPCS |
phosphopantothenoylcysteine synthetase |
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IAGP |
|
HPO |
|
MIM:618189 |
NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385
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G |
PPIB |
peptidylprolyl isomerase B |
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IAGP |
|
HPO |
|
MIM:259440 |
NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
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G |
PPP1R13L |
protein phosphatase 1 regulatory subunit 13 like |
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IAGP |
|
HPO |
|
MIM:620519 |
NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349
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G |
PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
|
IAGP |
|
HPO |
|
MIM:618354 |
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,193,978...134,226,073
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G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
|
IAGP |
|
HPO |
|
MIM:617711 |
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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G |
PRDM12 |
PR/SET domain 12 |
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IAGP |
|
HPO |
|
MIM:616488 |
NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986
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G |
PRDM13 |
PR/SET domain 13 |
|
IAGP |
|
HPO |
|
MIM:619761 |
NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578
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G |
PRDX1 |
peroxiredoxin 1 |
|
IAGP |
|
HPO |
|
MIM:277400 |
NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
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G |
PRF1 |
perforin 1 |
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IAGP |
|
HPO |
|
MIM:603553 |
NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
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G |
PRKACG |
protein kinase cAMP-activated catalytic subunit gamma |
|
IAGP |
|
HPO |
|
MIM:616176 |
NCBI chr 9:69,012,504...69,014,113
Ensembl chr 9:69,012,504...69,014,113
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G |
PRKAR1B |
protein kinase cAMP-dependent type I regulatory subunit beta |
|
IAGP |
|
HPO |
|
MIM:619680 |
NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650
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G |
PRKDC |
protein kinase, DNA-activated, catalytic subunit |
|
IAGP |
|
HPO |
|
MIM:615966 |
NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
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G |
PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
|
HPO |
|
MIM:619638 |
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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G |
PROC |
protein C, inactivator of coagulation factors Va and VIIIa |
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IAGP |
|
HPO |
|
MIM:612304 |
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
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G |
PRRT2 |
proline rich transmembrane protein 2 |
|
IAGP |
|
HPO |
|
MIM:605751 |
NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892
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G |
PRX |
periaxin |
|
IAGP |
|
HPO |
|
MIM:145900 |
NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793
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G |
PSAP |
prosaposin |
|
IAGP |
|
HPO |
|
MIM:611722 |
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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G |
PSMB8 |
proteasome 20S subunit beta 8 |
|
IAGP |
|
HPO |
|
MIM:256040 |
NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
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G |
PSMC1 |
proteasome 26S subunit, ATPase 1 |
|
IAGP |
|
HPO |
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MIM:620071 |
NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429
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PSMG2 |
proteasome assembly chaperone 2 |
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IAGP |
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HPO |
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MIM:619183 |
NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945
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PSPH |
phosphoserine phosphatase |
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IAGP |
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HPO |
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MIM:614023 |
NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604
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PTCHD1 |
patched domain containing 1 |
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IAGP |
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HPO |
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MIM:300830 |
NCBI chr X:23,334,396...23,404,374
Ensembl chr X:23,334,849...23,404,374
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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MIM:605309 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTF1A |
pancreas associated transcription factor 1a |
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IAGP |
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HPO |
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MIM:615935 |
NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245
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PTH |
parathyroid hormone |
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IAGP |
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HPO |
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MIM:146200 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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PTPRC |
protein tyrosine phosphatase receptor type C |
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IAGP |
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HPO |
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MIM:619924 |
NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,759,342
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PTPRQ |
protein tyrosine phosphatase receptor type Q |
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IAGP |
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HPO |
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MIM:613391 |
NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273
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PTRH2 |
peptidyl-tRNA hydrolase 2 |
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IAGP |
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HPO |
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MIM:616263 |
NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
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PTS |
6-pyruvoyltetrahydropterin synthase |
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IAGP |
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HPO |
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MIM:261640 |
NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955
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PUM1 |
pumilio RNA binding family member 1 |
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IAGP |
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HPO |
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MIM:620719 |
NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991
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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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MIM:616158 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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PUS1 |
pseudouridine synthase 1 |
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IAGP |
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HPO |
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MIM:600462 |
NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896
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PUS3 |
pseudouridine synthase 3 |
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IAGP |
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HPO |
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MIM:617051 |
NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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PUS7 |
pseudouridine synthase 7 |
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IAGP |
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HPO |
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MIM:618342 |
NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271
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PYROXD1 |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
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IAGP |
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HPO |
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MIM:617258 |
NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250
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QARS1 |
glutaminyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:615760 |
NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
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QDPR |
quinoid dihydropteridine reductase |
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IAGP |
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HPO |
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MIM:261630 |
NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206
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RAB11B |
RAB11B, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:617807 |
NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
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RAB27A |
RAB27A, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:607624 |
NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113
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RAC1 |
Rac family small GTPase 1 |
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IAGP |
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HPO |
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MIM:617751 |
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RAD51 |
RAD51 recombinase |
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IAGP |
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HPO |
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MIM:614508 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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MIM:233650 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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MIM:233650 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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RANBP2 |
RAN binding protein 2 |
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IAGP |
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HPO |
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MIM:608033 |
NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
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RAP1GDS1 |
Rap1 GTPase-GDP dissociation stimulator 1 |
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IAGP |
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HPO |
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MIM:620655 |
NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858
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RARS1 |
arginyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:616140 |
NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301
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RBCK1 |
RANBP2-type and C3HC4-type zinc finger containing 1 |
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IAGP |
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HPO |
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MIM:615895 |
NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139
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RDX |
radixin |
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IAGP |
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HPO |
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MIM:611022 |
NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712
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RECQL |
RecQ like helicase |
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IAGP |
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HPO |
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MIM:620370 |
NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669
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RELB |
RELB proto-oncogene, NF-kB subunit |
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IAGP |
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HPO |
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MIM:617585 |
NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192
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REPS1 |
RALBP1 associated Eps domain containing 1 |
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IAGP |
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HPO |
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MIM:617916 |
NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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MIM:616975 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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REST |
RE1 silencing transcription factor |
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IAGP |
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HPO |
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MIM:616806 |
NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808
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RETREG1 |
reticulophagy regulator 1 |
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IAGP |
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HPO |
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MIM:201300 |
NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
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RFT1 |
RFT1 homolog |
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IAGP |
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HPO |
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MIM:612015 |
NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453
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RFX7 |
regulatory factor X7 |
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IAGP |
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HPO |
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MIM:620330 |
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
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RHOBTB2 |
Rho related BTB domain containing 2 |
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IAGP |
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HPO |
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MIM:618004 |
NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509
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RIN2 |
Ras and Rab interactor 2 |
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IAGP |
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HPO |
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MIM:613075 |
NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
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RINT1 |
RAD50 interactor 1 |
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IAGP |
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HPO |
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MIM:618641 |
NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677
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RIPK1 |
receptor interacting serine/threonine kinase 1 |
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IAGP |
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HPO |
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MIM:618108 |
NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
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RLBP1 |
retinaldehyde binding protein 1 |
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IAGP |
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HPO |
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MIM:607476 |
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
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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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MIM:300978 |
NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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MIM:250250 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RNASEH2A |
ribonuclease H2 subunit A |
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IAGP |
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HPO |
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MIM:610333 |
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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RNASET2 |
ribonuclease T2 |
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IAGP |
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HPO |
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MIM:612951 |
NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191
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RNF31 |
ring finger protein 31 |
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IAGP |
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HPO |
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MIM:620632 |
NCBI chr14:24,146,875...24,160,655
Ensembl chr14:24,146,683...24,160,660
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RNH1 |
ribonuclease/angiogenin inhibitor 1 |
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IAGP |
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HPO |
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MIM:620461 |
NCBI chr11:494,515...507,242
Ensembl chr11:494,512...507,300
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RNPC3 |
RNA binding region (RNP1, RRM) containing 3 |
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IAGP |
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HPO |
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MIM:618160 |
NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239
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RNU12 |
RNA, U12 small nuclear |
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IAGP |
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HPO |
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MIM:620208 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:210710 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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ROBO3 |
roundabout guidance receptor 3 |
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IAGP |
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HPO |
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MIM:607313 |
NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471
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ROR1 |
receptor tyrosine kinase like orphan receptor 1 |
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IAGP |
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HPO |
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MIM:617654 |
NCBI chr 1:63,774,017...64,181,498
Ensembl chr 1:63,774,017...64,181,498
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RORB |
RAR related orphan receptor B |
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IAGP |
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HPO |
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MIM:618357 |
NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
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RORC |
RAR related orphan receptor C |
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IAGP |
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HPO |
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MIM:616622 |
NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845
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RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
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HPO |
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MIM:204100 |
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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RPGRIP1L |
RPGRIP1 like |
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IAGP |
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HPO |
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MIM:619113 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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RPL21 |
ribosomal protein L21 |
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IAGP |
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HPO |
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MIM:615885 |
NCBI chr13:27,251,558...27,256,568
Ensembl chr13:27,251,362...27,259,609
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RPL35A |
ribosomal protein L35a |
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IAGP |
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HPO |
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MIM:612528 |
NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
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RPL3L |
ribosomal protein L3 like |
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IAGP |
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HPO |
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MIM:619371 |
NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606
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RPS10 |
ribosomal protein S10 |
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IAGP |
|
HPO |
|
MIM:613308 |
NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
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RPS19 |
ribosomal protein S19 |
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IAGP |
|
HPO |
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MIM:105650 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
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RPS26 |
ribosomal protein S26 |
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IAGP |
|
HPO |
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MIM:613309 |
NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
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RPS29 |
ribosomal protein S29 |
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IAGP |
|
HPO |
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MIM:615909 |
NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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MIM:303600 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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RPSA |
ribosomal protein SA |
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IAGP |
|
HPO |
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MIM:271400 |
NCBI chr 3:39,406,720...39,412,542
Ensembl chr 3:39,406,716...39,426,255
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RRAGC |
Ras related GTP binding C |
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IAGP |
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HPO |
|
MIM:620609 |
NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772
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RRAGD |
Ras related GTP binding D |
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IAGP |
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HPO |
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MIM:620152 |
NCBI chr 6:89,364,616...89,412,273
Ensembl chr 6:89,364,616...89,412,273
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G |
RSPRY1 |
ring finger and SPRY domain containing 1 |
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IAGP |
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HPO |
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MIM:616723 |
NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469
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G |
RSRC1 |
arginine and serine rich coiled-coil 1 |
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IAGP |
|
HPO |
|
MIM:618402 |
NCBI chr 3:158,110,089...158,545,730
Ensembl chr 3:158,105,855...158,545,730
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RUBCN |
rubicon autophagy regulator |
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IAGP |
|
HPO |
|
MIM:615705 |
NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727
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RUSC2 |
RUN and SH3 domain containing 2 |
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IAGP |
|
HPO |
|
MIM:617773 |
NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898
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G |
RYR1 |
ryanodine receptor 1 |
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IAGP |
|
HPO |
|
MIM:117000 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G |
S1PR2 |
sphingosine-1-phosphate receptor 2 |
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IAGP |
|
HPO |
|
MIM:610419 |
NCBI chr19:10,221,433...10,231,331
Ensembl chr19:10,221,433...10,231,331
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G |
SACS |
sacsin molecular chaperone |
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IAGP |
|
HPO |
|
MIM:270550 |
NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
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G |
SAMD9 |
sterile alpha motif domain containing 9 |
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IAGP |
|
HPO |
|
MIM:610455 MIM:617053 |
NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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IAGP |
|
HPO |
|
MIM:612952 MIM:614415 |
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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G |
SAR1B |
secretion associated Ras related GTPase 1B |
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IAGP |
|
HPO |
|
MIM:246700 |
NCBI chr 5:134,601,149...134,632,828
Ensembl chr 5:134,601,149...134,649,271
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G |
SARS1 |
seryl-tRNA synthetase 1 |
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IAGP |
|
HPO |
|
MIM:617709 |
NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
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G |
SARS2 |
seryl-tRNA synthetase 2, mitochondrial |
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IAGP |
|
HPO |
|
MIM:613845 |
NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763
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G |
SASH1 |
SAM and SH3 domain containing 1 |
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IAGP |
|
HPO |
|
MIM:127500 MIM:618373 |
NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
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G |
SATB2 |
SATB homeobox 2 |
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IAGP |
|
HPO |
|
MIM:612313 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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G |
SCAF4 |
SR-related CTD associated factor 4 |
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IAGP |
|
HPO |
|
MIM:620511 |
NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118
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G |
SCN11A |
sodium voltage-gated channel alpha subunit 11 |
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IAGP |
|
HPO |
|
MIM:615552 |
NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157
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G |
SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
|
HPO |
|
MIM:607208 MIM:619317 |
NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
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G |
SCN1B |
sodium voltage-gated channel beta subunit 1 |
|
IAGP |
|
HPO |
|
MIM:617350 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
|
IAGP |
|
HPO |
|
MIM:607745 MIM:613721 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
SCN3A |
sodium voltage-gated channel alpha subunit 3 |
|
IAGP |
|
HPO |
|
MIM:617938 |
NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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MIM:168300 MIM:170400 MIM:170500 MIM:614198 |
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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MIM:614558 MIM:617080 |
NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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IAGP |
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HPO |
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MIM:201300 |
NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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SCO2 |
synthesis of cytochrome C oxidase 2 |
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IAGP |
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HPO |
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MIM:604377 |
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
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SCYL1 |
SCY1 like pseudokinase 1 |
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IAGP |
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HPO |
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MIM:616719 |
NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
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HPO |
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MIM:252011 MIM:613642 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHAF1 |
succinate dehydrogenase complex assembly factor 1 |
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IAGP |
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HPO |
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MIM:619166 |
NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312
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SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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HPO |
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MIM:619224 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHD |
succinate dehydrogenase complex subunit D |
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IAGP |
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HPO |
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MIM:619167 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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SEC23B |
SEC23 homolog B, COPII coat complex component |
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IAGP |
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HPO |
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MIM:224100 |
NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
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SEC61A1 |
SEC61 translocon subunit alpha 1 |
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IAGP |
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HPO |
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MIM:617056 MIM:620670 MIM:620674 |
NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705
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SELENBP1 |
selenium binding protein 1 |
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IAGP |
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HPO |
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MIM:618148 |
NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707
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SELENON |
selenoprotein N |
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IAGP |
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HPO |
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MIM:602771 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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SEMA7A |
semaphorin 7A (JohnMiltonHagen blood group) |
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IAGP |
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HPO |
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MIM:619874 |
NCBI chr15:74,409,289...74,433,958
Ensembl chr15:74,409,289...74,433,958
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SEPSECS |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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IAGP |
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HPO |
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MIM:613811 |
NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
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SERPINB7 |
serpin family B member 7 |
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IAGP |
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HPO |
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MIM:615598 |
NCBI chr18:63,753,057...63,805,370
Ensembl chr18:63,752,935...63,805,376
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SERPINB8 |
serpin family B member 8 |
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IAGP |
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HPO |
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MIM:617115 |
NCBI chr18:63,970,081...64,019,779
Ensembl chr18:63,970,029...64,019,779
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SERPINF1 |
serpin family F member 1 |
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IAGP |
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HPO |
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MIM:613982 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SET |
SET nuclear proto-oncogene |
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IAGP |
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HPO |
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MIM: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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MIM: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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MIM:619056 |
NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664
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SETD5 |
SET domain containing 5 |
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IAGP |
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HPO |
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MIM:615761 |
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
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SGCD |
sarcoglycan delta |
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IAGP |
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HPO |
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MIM:606685 |
NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
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SGPL1 |
sphingosine-1-phosphate lyase 1 |
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IAGP |
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HPO |
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MIM:617575 |
NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,958,701
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SH2B3 |
SH2B adaptor protein 3 |
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IAGP |
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HPO |
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MIM:254450 |
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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SH3KBP1 |
SH3 domain containing kinase binding protein 1 |
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IAGP |
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HPO |
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MIM:300310 |
NCBI chr X:19,533,977...19,887,600
Ensembl chr X:19,533,977...19,887,600
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SH3TC2 |
SH3 domain and tetratricopeptide repeats 2 |
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IAGP |
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HPO |
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MIM:601596 |
NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
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SHQ1 |
SHQ1, H/ACA ribonucleoprotein assembly factor |
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IAGP |
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HPO |
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MIM:619921 MIM:619922 |
NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914
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SI |
sucrase-isomaltase |
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IAGP |
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HPO |
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MIM:222900 |
NCBI chr 3:164,978,898...165,090,232
Ensembl chr 3:164,978,898...165,078,496
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SIL1 |
SIL1 nucleotide exchange factor |
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IAGP |
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HPO |
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MIM:248800 |
NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
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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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MIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SKIC2 |
SKI2 subunit of superkiller complex |
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IAGP |
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HPO |
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MIM:614602 |
NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
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SLC11A2 |
solute carrier family 11 member 2 |
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IAGP |
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HPO |
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MIM:206100 |
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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SLC12A5 |
solute carrier family 12 member 5 |
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IAGP |
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HPO |
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MIM:616645 |
NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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SLC12A6 |
solute carrier family 12 member 6 |
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IAGP |
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HPO |
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MIM:620068 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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SLC16A1 |
solute carrier family 16 member 1 |
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IAGP |
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HPO |
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MIM:616095 |
NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,593
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SLC18A2 |
solute carrier family 18 member A2 |
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IAGP |
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HPO |
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MIM:618049 |
NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430
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SLC18A3 |
solute carrier family 18 member A3 |
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IAGP |
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HPO |
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MIM:617239 |
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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SLC19A1 |
solute carrier family 19 member 1 |
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IAGP |
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HPO |
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MIM:620603 |
NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
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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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MIM:617105 |
NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
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SLC1A3 |
solute carrier family 1 member 3 |
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IAGP |
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HPO |
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MIM:612656 |
NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
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SLC1A4 |
solute carrier family 1 member 4 |
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IAGP |
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HPO |
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MIM:616657 |
NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
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SLC25A1 |
solute carrier family 25 member 1 |
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IAGP |
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HPO |
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MIM:618197 |
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
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SLC25A12 |
solute carrier family 25 member 12 |
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IAGP |
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HPO |
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MIM:612949 |
NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
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SLC25A15 |
solute carrier family 25 member 15 |
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IAGP |
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HPO |
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MIM:238970 |
NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
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SLC25A26 |
solute carrier family 25 member 26 |
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IAGP |
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HPO |
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MIM:616794 |
NCBI chr 3:66,133,610...66,378,927
Ensembl chr 3:66,133,610...66,388,116
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SLC25A36 |
solute carrier family 25 member 36 |
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IAGP |
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HPO |
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MIM:620211 |
NCBI chr 3:140,941,836...140,980,995
Ensembl chr 3:140,941,830...140,980,995
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SLC25A38 |
solute carrier family 25 member 38 |
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IAGP |
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HPO |
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MIM:205950 |
NCBI chr 3:39,383,370...39,397,351
Ensembl chr 3:39,383,370...39,397,351
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SLC25A42 |
solute carrier family 25 member 42 |
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IAGP |
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HPO |
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MIM:618416 |
NCBI chr19:19,063,994...19,113,030
Ensembl chr19:19,063,994...19,113,030
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SLC26A3 |
solute carrier family 26 member 3 |
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IAGP |
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HPO |
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MIM:214700 |
NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225
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SLC2A1 |
solute carrier family 2 member 1 |
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IAGP |
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HPO |
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MIM:606777 MIM:608885 MIM:612126 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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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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MIM:208050 |
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
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SLC2A2 |
solute carrier family 2 member 2 |
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IAGP |
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HPO |
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MIM:227810 |
NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
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SLC30A9 |
solute carrier family 30 member 9 |
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IAGP |
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HPO |
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MIM:617595 |
NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461
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SLC31A1 |
solute carrier family 31 member 1 |
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IAGP |
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HPO |
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MIM:620306 |
NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
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SLC32A1 |
solute carrier family 32 member 1 |
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IAGP |
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HPO |
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MIM:620774 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
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SLC33A1 |
solute carrier family 33 member 1 |
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IAGP |
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HPO |
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MIM:614482 |
NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
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SLC34A3 |
solute carrier family 34 member 3 |
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IAGP |
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HPO |
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MIM:241530 |
NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
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SLC35A1 |
solute carrier family 35 member A1 |
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IAGP |
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HPO |
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MIM:603585 |
NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336
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SLC35B2 |
solute carrier family 35 member B2 |
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IAGP |
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HPO |
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MIM:620269 |
NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890
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SLC35C1 |
solute carrier family 35 member C1 |
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IAGP |
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HPO |
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MIM:266265 |
NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016
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SLC37A4 |
solute carrier family 37 member 4 |
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IAGP |
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HPO |
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MIM:232220 MIM:619525 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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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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MIM:619881 |
NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
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SLC38A8 |
solute carrier family 38 member 8 |
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IAGP |
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HPO |
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MIM:609218 |
NCBI chr16:84,009,667...84,043,372
Ensembl chr16:84,009,667...84,042,795
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SLC39A14 |
solute carrier family 39 member 14 |
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IAGP |
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HPO |
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MIM:617013 |
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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SLC39A4 |
solute carrier family 39 member 4 |
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IAGP |
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HPO |
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MIM:201100 |
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
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SLC39A7 |
solute carrier family 39 member 7 |
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IAGP |
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HPO |
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MIM:619693 |
NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439
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SLC41A1 |
solute carrier family 41 member 1 |
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IAGP |
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HPO |
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MIM:619468 |
NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748
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SLC46A1 |
solute carrier family 46 member 1 |
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IAGP |
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HPO |
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MIM:229050 |
NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
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SLC51A |
solute carrier family 51 member A |
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IAGP |
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HPO |
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MIM:619484 |
NCBI chr 3:196,216,534...196,233,427
Ensembl chr 3:196,211,487...196,243,178
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SLC52A3 |
solute carrier family 52 member 3 |
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IAGP |
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HPO |
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MIM:211530 |
NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
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SLC5A6 |
solute carrier family 5 member 6 |
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IAGP |
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HPO |
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MIM:618973 |
NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958
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SLC5A7 |
solute carrier family 5 member 7 |
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IAGP |
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HPO |
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MIM:617143 |
NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
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SLC6A17 |
solute carrier family 6 member 17 |
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IAGP |
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HPO |
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MIM:616269 |
NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
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SLC6A3 |
solute carrier family 6 member 3 |
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IAGP |
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HPO |
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MIM:613135 |
NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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SLC6A6 |
solute carrier family 6 member 6 |
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IAGP |
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HPO |
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MIM:145350 |
NCBI chr 3:14,402,576...14,489,349
Ensembl chr 3:14,402,576...14,489,349
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SLC6A8 |
solute carrier family 6 member 8 |
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IAGP |
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HPO |
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MIM:300352 |
NCBI chr X:153,687,926...153,696,593
Ensembl chr X:153,687,926...153,696,588
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SLC7A7 |
solute carrier family 7 member 7 |
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IAGP |
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HPO |
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MIM:222700 |
NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
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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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MIM:301024 |
NCBI chr X:46,599,251...46,759,118
Ensembl chr X:46,599,251...46,759,118
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SLF2 |
SMC5-SMC6 complex localization factor 2 |
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IAGP |
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HPO |
|
MIM:620184 |
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
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SLITRK2 |
SLIT and NTRK like family member 2 |
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IAGP |
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HPO |
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MIM:301107 |
NCBI chr X:145,817,829...145,829,856
Ensembl chr X:145,817,829...145,829,856
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SLITRK6 |
SLIT and NTRK like family member 6 |
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IAGP |
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HPO |
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MIM:221200 |
NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683
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SLURP1 |
secreted LY6/PLAUR domain containing 1 |
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IAGP |
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HPO |
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MIM:248300 |
NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406
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SMARCA4 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
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IAGP |
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HPO |
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MIM:613325 |
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMARCC2 |
SWI/SNF related BAF chromatin remodeling complex subunit C2 |
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IAGP |
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HPO |
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MIM:618362 |
NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
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SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
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HPO |
|
MIM:610759 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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G |
SMG9 |
SMG9 nonsense mediated mRNA decay factor |
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IAGP |
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HPO |
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MIM:619995 |
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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SMN1 |
survival of motor neuron 1, telomeric |
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IAGP |
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HPO |
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MIM:253300 |
NCBI chr 5:70,924,941...70,966,375
Ensembl chr 5:70,925,030...70,953,942 Ensembl chr 5:70,925,030...70,953,942
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SMPD1 |
sphingomyelin phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:257200 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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SNAP29 |
synaptosome associated protein 29 |
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IAGP |
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HPO |
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MIM:609528 |
NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
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SNAPC4 |
small nuclear RNA activating complex polypeptide 4 |
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IAGP |
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HPO |
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MIM:620515 |
NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176
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SNORD118 |
small nucleolar RNA, C/D box 118 |
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IAGP |
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HPO |
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MIM:614561 |
NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
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SNX10 |
sorting nexin 10 |
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IAGP |
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HPO |
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MIM:615085 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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SNX14 |
sorting nexin 14 |
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IAGP |
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HPO |
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MIM:616354 |
NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
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SOBP |
sine oculis binding protein homolog |
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IAGP |
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HPO |
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MIM:613671 |
NCBI chr 6:107,490,117...107,661,306
Ensembl chr 6:107,490,106...107,661,306
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SOD1 |
superoxide dismutase 1 |
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IAGP |
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HPO |
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MIM:618598 |
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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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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MIM:617140 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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SOST |
sclerostin |
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IAGP |
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HPO |
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MIM:122860 |
NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791
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SOX18 |
SRY-box transcription factor 18 |
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IAGP |
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HPO |
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MIM:137940 MIM:607823 |
NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
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SOX6 |
SRY-box transcription factor 6 |
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IAGP |
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HPO |
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MIM:618971 |
NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
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SP7 |
Sp7 transcription factor |
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IAGP |
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HPO |
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MIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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SPARC |
secreted protein acidic and cysteine rich |
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IAGP |
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HPO |
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MIM:616507 |
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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SPATA7 |
spermatogenesis associated 7 |
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IAGP |
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HPO |
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MIM:604232 |
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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SPEG |
striated muscle enriched protein kinase |
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IAGP |
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HPO |
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MIM:615959 |
NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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SPR |
sepiapterin reductase |
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IAGP |
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HPO |
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MIM:612716 |
NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158
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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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MIM:619745 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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IAGP |
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HPO |
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MIM:613477 MIM:620540 |
NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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SPTBN2 |
spectrin beta, non-erythrocytic 2 |
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IAGP |
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HPO |
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MIM:600224 MIM:615386 |
NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,496...66,744,670
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SPTSSA |
serine palmitoyltransferase small subunit A |
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IAGP |
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HPO |
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MIM:620416 MIM:620417 |
NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240
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SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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MIM:136140 MIM:619595 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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SRD5A3 |
steroid 5 alpha-reductase 3 |
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IAGP |
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HPO |
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MIM:612379 MIM:612713 |
NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
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SRP68 |
signal recognition particle 68 |
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IAGP |
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HPO |
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MIM:620534 |
NCBI chr17:76,038,785...76,072,517
Ensembl chr17:76,038,775...76,072,517
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SRRM2 |
serine/arginine repetitive matrix 2 |
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IAGP |
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HPO |
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MIM:620439 |
NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538
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ST3GAL3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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IAGP |
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HPO |
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MIM:615006 |
NCBI chr 1:43,707,536...43,931,159
Ensembl chr 1:43,705,824...43,931,165
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ST3GAL5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
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IAGP |
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HPO |
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MIM:609056 |
NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
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STAG1 |
STAG1 cohesin complex component |
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IAGP |
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HPO |
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MIM:617635 |
NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403
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STAT2 |
signal transducer and activator of transcription 2 |
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IAGP |
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HPO |
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MIM:616636 |
NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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MIM:147060 MIM:615952 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STAT6 |
signal transducer and activator of transcription 6 |
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IAGP |
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HPO |
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MIM:620532 |
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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STEAP3 |
STEAP3 metalloreductase |
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IAGP |
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HPO |
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MIM:615234 |
NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
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STING1 |
stimulator of interferon response cGAMP interactor 1 |
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IAGP |
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HPO |
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MIM:615934 |
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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STK4 |
serine/threonine kinase 4 |
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IAGP |
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HPO |
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MIM:614868 |
NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,084,214
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STS |
steroid sulfatase |
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IAGP |
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HPO |
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MIM:308100 |
NCBI chr X:7,147,290...7,354,641
Ensembl chr X:7,147,237...7,804,358
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STT3A |
STT3 oligosaccharyltransferase complex catalytic subunit A |
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IAGP |
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HPO |
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MIM:615596 MIM:619714 |
NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215
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STX11 |
syntaxin 11 |
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IAGP |
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HPO |
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MIM:603552 |
NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939
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STX1B |
syntaxin 1B |
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IAGP |
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HPO |
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MIM:616172 |
NCBI chr16:30,989,256...31,010,638
Ensembl chr16:30,989,256...31,010,638
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STXBP1 |
syntaxin binding protein 1 |
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IAGP |
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HPO |
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MIM:612164 |
NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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STXBP2 |
syntaxin binding protein 2 |
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IAGP |
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HPO |
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MIM:613101 |
NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873
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SUCLA2 |
succinate-CoA ligase ADP-forming subunit beta |
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IAGP |
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HPO |
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MIM:612073 |
NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
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SUCLG1 |
succinate-CoA ligase GDP/ADP-forming subunit alpha |
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IAGP |
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HPO |
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MIM:245400 |
NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
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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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MIM:619480 |
NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
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SURF1 |
SURF1 cytochrome c oxidase assembly factor |
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IAGP |
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HPO |
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MIM:220110 |
NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
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SV2A |
synaptic vesicle glycoprotein 2A |
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IAGP |
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HPO |
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MIM:620772 |
NCBI chr 1:149,903,318...149,917,844
Ensembl chr 1:149,903,318...149,917,844
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SVIL |
supervillin |
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IAGP |
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HPO |
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MIM:619040 |
NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
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SYK |
spleen associated tyrosine kinase |
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IAGP |
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HPO |
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MIM:619381 |
NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
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SYNE4 |
spectrin repeat containing nuclear envelope family member 4 |
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IAGP |
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HPO |
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MIM:615540 |
NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813
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SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
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IAGP |
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HPO |
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MIM:612621 |
NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
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SYNJ1 |
synaptojanin 1 |
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IAGP |
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HPO |
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MIM:617389 |
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
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SYT1 |
synaptotagmin 1 |
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IAGP |
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HPO |
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MIM:618218 |
NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
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SZT2 |
SZT2 subunit of KICSTOR complex |
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IAGP |
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HPO |
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MIM:615476 |
NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247
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TAF13 |
TATA-box binding protein associated factor 13 |
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IAGP |
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HPO |
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MIM:617432 |
NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012
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TAF2 |
TATA-box binding protein associated factor 2 |
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IAGP |
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HPO |
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MIM:615599 |
NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863
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TAF8 |
TATA-box binding protein associated factor 8 |
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IAGP |
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HPO |
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MIM:619972 |
NCBI chr 6:42,050,524...42,087,462
Ensembl chr 6:42,050,513...42,087,461
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TAFAZZIN |
tafazzin, phospholipid-lysophospholipid transacylase |
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IAGP |
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HPO |
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MIM:302060 |
NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726
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TANGO2 |
transport and golgi organization 2 homolog |
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IAGP |
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HPO |
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MIM:616878 |
NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
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TARS2 |
threonyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:615918 |
NCBI chr 1:150,487,419...150,507,602
Ensembl chr 1:150,487,414...150,507,602
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TBC1D23 |
TBC1 domain family member 23 |
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IAGP |
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HPO |
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MIM:617695 |
NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
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MIM:605021 MIM:608105 MIM:615338 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671
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TBC1D7 |
TBC1 domain family member 7 |
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IAGP |
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HPO |
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MIM:248000 |
NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583
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TBC1D8B |
TBC1 domain family member 8B |
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IAGP |
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HPO |
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MIM:301028 |
NCBI chr X:106,802,673...106,876,150
Ensembl chr X:106,802,673...106,876,150
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TBCD |
tubulin folding cofactor D |
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IAGP |
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HPO |
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MIM:617193 |
NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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MIM:617207 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBK1 |
TANK binding kinase 1 |
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IAGP |
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HPO |
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MIM:617900 |
NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
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TBL1X |
transducin beta like 1 X-linked |
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IAGP |
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HPO |
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MIM:301033 |
NCBI chr X:9,463,295...9,719,740
Ensembl chr X:9,463,320...9,741,037
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TBL1XR1 |
TBL1X/Y related 1 |
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IAGP |
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HPO |
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MIM:616944 |
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
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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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MIM:606053 |
NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870
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TBX19 |
T-box transcription factor 19 |
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IAGP |
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HPO |
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MIM:201400 |
NCBI chr 1:168,280,877...168,314,426
Ensembl chr 1:168,280,877...168,314,426
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TBX21 |
T-box transcription factor 21 |
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IAGP |
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HPO |
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MIM:619630 |
NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122
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TBXA2R |
thromboxane A2 receptor |
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IAGP |
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HPO |
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MIM:614009 |
NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
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TCEAL1 |
transcription elongation factor A like 1 |
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IAGP |
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HPO |
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MIM:301094 |
NCBI chr X:103,628,716...103,630,953
Ensembl chr X:103,628,704...103,630,953
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TCF20 |
transcription factor 20 |
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IAGP |
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HPO |
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MIM:618430 |
NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616
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TCF3 |
transcription factor 3 |
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IAGP |
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HPO |
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MIM:616941 MIM:619824 |
NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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MIM:259700 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCN2 |
transcobalamin 2 |
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IAGP |
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HPO |
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MIM:275350 |
NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
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TCTN2 |
tectonic family member 2 |
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IAGP |
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HPO |
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MIM:616654 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
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TECR |
trans-2,3-enoyl-CoA reductase |
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IAGP |
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HPO |
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MIM:614020 |
NCBI chr19:14,527,726...14,565,980
Ensembl chr19:14,517,085...14,565,980
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TEFM |
transcription elongation factor, mitochondrial |
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IAGP |
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HPO |
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MIM:620451 |
NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238
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TELO2 |
telomere maintenance 2 |
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IAGP |
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HPO |
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MIM:616954 |
NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
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TET2 |
tet methylcytosine dioxygenase 2 |
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IAGP |
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HPO |
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MIM:619126 |
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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MIM:219700 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFBI |
transforming growth factor beta induced |
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IAGP |
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HPO |
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MIM:608470 |
NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818
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TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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MIM:610168 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TGM3 |
transglutaminase 3 |
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IAGP |
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HPO |
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MIM:617251 |
NCBI chr20:2,296,001...2,341,079
Ensembl chr20:2,296,001...2,341,079
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TH |
tyrosine hydroxylase |
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IAGP |
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HPO |
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MIM:605407 |
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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THOC6 |
THO complex subunit 6 |
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IAGP |
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HPO |
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MIM:613680 |
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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THPO |
thrombopoietin |
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IAGP |
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HPO |
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MIM:620481 |
NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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THUMPD1 |
THUMP domain containing 1 |
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IAGP |
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HPO |
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MIM:619989 |
NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084
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TIAM1 |
TIAM Rac1 associated GEF 1 |
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IAGP |
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HPO |
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MIM:619908 |
NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977
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TIMM50 |
translocase of inner mitochondrial membrane 50 |
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IAGP |
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HPO |
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MIM:617698 |
NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
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TIMMDC1 |
translocase of inner mitochondrial membrane domain containing 1 |
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IAGP |
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HPO |
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MIM:618251 |
NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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MIM:268130 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TJP2 |
tight junction protein 2 |
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IAGP |
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HPO |
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MIM:615878 |
NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
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TK2 |
thymidine kinase 2 |
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IAGP |
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HPO |
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MIM:609560 |
NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
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TLK2 |
tousled like kinase 2 |
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IAGP |
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HPO |
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MIM:618050 |
NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481
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TLR8 |
toll like receptor 8 |
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IAGP |
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HPO |
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MIM:301078 |
NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169
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TMEM106B |
transmembrane protein 106B |
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IAGP |
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HPO |
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MIM:617964 |
NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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TMEM163 |
transmembrane protein 163 |
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IAGP |
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HPO |
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MIM:620243 |
NCBI chr 2:134,455,759...134,719,000
Ensembl chr 2:134,455,759...134,719,000
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TMEM199 |
transmembrane protein 199 |
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IAGP |
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HPO |
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MIM:616829 |
NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683
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TMEM38B |
transmembrane protein 38B |
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IAGP |
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HPO |
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MIM:615066 |
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
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TMEM63C |
transmembrane protein 63C |
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IAGP |
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HPO |
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MIM:619966 |
NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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MIM:216360 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TMTC3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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IAGP |
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HPO |
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MIM:617255 |
NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887
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TMX2 |
thioredoxin related transmembrane protein 2 |
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IAGP |
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HPO |
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MIM:618730 |
NCBI chr11:57,712,593...57,740,973
Ensembl chr11:57,712,580...57,742,987
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TNFAIP3 |
TNF alpha induced protein 3 |
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IAGP |
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HPO |
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MIM:616744 |
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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MIM:612301 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
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HPO |
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MIM:239000 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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TNFSF11 |
TNF superfamily member 11 |
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IAGP |
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HPO |
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MIM:259710 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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TNIK |
TRAF2 and NCK interacting kinase |
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IAGP |
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HPO |
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MIM:617028 |
NCBI chr 3:171,058,414...171,460,408
Ensembl chr 3:171,058,414...171,460,408
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TNNT1 |
troponin T1, slow skeletal type |
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IAGP |
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HPO |
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MIM:620386 MIM:620389 |
NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206
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TNNT2 |
troponin T2, cardiac type |
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IAGP |
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HPO |
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MIM:601494 |
NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
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TNPO2 |
transportin 2 |
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IAGP |
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HPO |
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MIM:619556 |
NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011
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TNR |
tenascin R |
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IAGP |
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HPO |
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MIM:619653 |
NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595
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TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
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IAGP |
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HPO |
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MIM:619185 |
NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
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TOM1 |
target of myb1 membrane trafficking protein |
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IAGP |
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HPO |
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MIM:619510 |
NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
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TOMM7 |
translocase of outer mitochondrial membrane 7 |
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IAGP |
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HPO |
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MIM:620601 |
NCBI chr 7:22,812,974...22,822,849
Ensembl chr 7:22,812,628...22,822,849
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TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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MIM:618165 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TP53RK |
TP53 regulating kinase |
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IAGP |
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HPO |
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MIM:617730 |
NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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MIM:604292 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TPK1 |
thiamin pyrophosphokinase 1 |
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IAGP |
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HPO |
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MIM:614458 |
NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395
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TPM2 |
tropomyosin 2 |
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IAGP |
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HPO |
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MIM:609285 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TPO |
thyroid peroxidase |
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IAGP |
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HPO |
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MIM:274500 |
NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711
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TPP2 |
tripeptidyl peptidase 2 |
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IAGP |
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HPO |
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MIM:619220 |
NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958
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TPR |
translocated promoter region, nuclear basket protein |
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IAGP |
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HPO |
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MIM:620393 |
NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693
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TRAC |
T cell receptor alpha constant |
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IAGP |
|
HPO |
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MIM:615387 |
NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156
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TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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MIM:618164 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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TRAPPC12 |
trafficking protein particle complex subunit 12 |
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IAGP |
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HPO |
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MIM:617669 |
NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
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TRAPPC2L |
trafficking protein particle complex subunit 2L |
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IAGP |
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HPO |
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MIM:618331 |
NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686
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TRAPPC6B |
trafficking protein particle complex subunit 6B |
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IAGP |
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HPO |
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MIM:617862 |
NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532
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TRAPPC9 |
trafficking protein particle complex subunit 9 |
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IAGP |
|
HPO |
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MIM:613192 |
NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579
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TRDN |
triadin |
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IAGP |
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HPO |
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MIM:615441 |
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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MIM:610448 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TRIM2 |
tripartite motif containing 2 |
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IAGP |
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HPO |
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MIM:615490 |
NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319
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TRIM37 |
tripartite motif containing 37 |
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IAGP |
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HPO |
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MIM:253250 |
NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
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TRIO |
trio Rho guanine nucleotide exchange factor |
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IAGP |
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HPO |
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MIM:617061 MIM:618825 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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TRIOBP |
TRIO and F-actin binding protein |
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IAGP |
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HPO |
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MIM:609823 |
NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556
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TRIP13 |
thyroid hormone receptor interactor 13 |
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IAGP |
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HPO |
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MIM:617598 |
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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TRIT1 |
tRNA isopentenyltransferase 1 |
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IAGP |
|
HPO |
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MIM:617873 |
NCBI chr 1:39,838,110...39,883,511
Ensembl chr 1:39,838,110...39,883,511
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TRMT1 |
tRNA methyltransferase 1 |
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IAGP |
|
HPO |
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MIM:618302 |
NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567
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TRMU |
tRNA mitochondrial 2-thiouridylase |
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IAGP |
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HPO |
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MIM:613070 |
NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
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TRNT1 |
tRNA nucleotidyl transferase 1 |
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IAGP |
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HPO |
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MIM:616084 |
NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435
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TRPA1 |
transient receptor potential cation channel subfamily A member 1 |
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IAGP |
|
HPO |
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MIM:615040 |
NCBI chr 8:72,021,250...72,090,010
Ensembl chr 8:72,019,917...72,075,584
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TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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IAGP |
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HPO |
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MIM:618531 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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TRPM6 |
transient receptor potential cation channel subfamily M member 6 |
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IAGP |
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HPO |
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MIM:602014 |
NCBI chr 9:74,722,495...74,887,921
Ensembl chr 9:74,722,495...74,888,094
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TRPV3 |
transient receptor potential cation channel subfamily V member 3 |
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IAGP |
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HPO |
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MIM:614594 |
NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:168400 MIM:184252 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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TSC1 |
TSC complex subunit 1 |
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IAGP |
|
HPO |
|
MIM:607341 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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IAGP |
|
HPO |
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MIM:607341 MIM:613254 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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TSEN15 |
tRNA splicing endonuclease subunit 15 |
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IAGP |
|
HPO |
|
MIM:617026 |
NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978
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TSHB |
thyroid stimulating hormone subunit beta |
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IAGP |
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HPO |
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MIM:275100 |
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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TSPYL1 |
TSPY like 1 |
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IAGP |
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HPO |
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MIM:608800 |
NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
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TTI1 |
TELO2 interacting protein 1 |
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IAGP |
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HPO |
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MIM:620445 |
NCBI chr20:37,983,021...38,033,456
Ensembl chr20:37,983,007...38,033,461
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TTI2 |
TELO2 interacting protein 2 |
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IAGP |
|
HPO |
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MIM:615541 |
NCBI chr 8:33,498,722...33,513,135
Ensembl chr 8:33,473,386...33,513,185
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G |
TTN |
titin |
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IAGP |
|
HPO |
|
MIM:611705 |
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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TUBB2A |
tubulin beta 2A class IIa |
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IAGP |
|
HPO |
|
MIM:615763 |
NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544
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TUBB4A |
tubulin beta 4A class IVa |
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IAGP |
|
HPO |
|
MIM:612438 |
NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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TUBB6 |
tubulin beta 6 class V |
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IAGP |
|
HPO |
|
MIM:617732 |
NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320
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TUBGCP2 |
tubulin gamma complex component 2 |
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IAGP |
|
HPO |
|
MIM:618737 |
NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823
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TUFM |
Tu translation elongation factor, mitochondrial |
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IAGP |
|
HPO |
|
MIM:610678 |
NCBI chr16:28,842,411...28,846,348
Ensembl chr16:28,842,411...28,846,348
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G |
TUFT1 |
tuftelin 1 |
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IAGP |
|
HPO |
|
MIM:620415 |
NCBI chr 1:151,540,309...151,583,583
Ensembl chr 1:151,540,305...151,583,583
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TULP1 |
TUB like protein 1 |
|
IAGP |
|
HPO |
|
MIM:613843 |
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
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TULP3 |
TUB like protein 3 |
|
IAGP |
|
HPO |
|
MIM:619902 |
NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138
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G |
TWIST1 |
twist family bHLH transcription factor 1 |
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IAGP |
|
HPO |
|
MIM:123100 MIM:180750 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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G |
TWNK |
twinkle mtDNA helicase |
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IAGP |
|
HPO |
|
MIM:271245 |
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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G |
TXN2 |
thioredoxin 2 |
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IAGP |
|
HPO |
|
MIM:616811 |
NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640
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G |
TYMS |
thymidylate synthetase |
|
IAGP |
|
HPO |
|
MIM:620040 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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G |
U2AF2 |
U2 small nuclear RNA auxiliary factor 2 |
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IAGP |
|
HPO |
|
MIM:620535 |
NCBI chr19:55,655,035...55,674,716
Ensembl chr19:55,654,146...55,674,716
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G |
UBA5 |
ubiquitin like modifier activating enzyme 5 |
|
IAGP |
|
HPO |
|
MIM:617132 |
NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794
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G |
UBE2A |
ubiquitin conjugating enzyme E2 A |
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IAGP |
|
HPO |
|
MIM:300860 |
NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083
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UBE3C |
ubiquitin protein ligase E3C |
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IAGP |
|
HPO |
|
MIM:620270 |
NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370
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G |
UBTF |
upstream binding transcription factor |
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IAGP |
|
HPO |
|
MIM:617672 |
NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626
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G |
UFC1 |
ubiquitin-fold modifier conjugating enzyme 1 |
|
IAGP |
|
HPO |
|
MIM:618076 |
NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856
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G |
UFSP2 |
UFM1 specific peptidase 2 |
|
IAGP |
|
HPO |
|
MIM:617974 MIM:620028 |
NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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G |
UNC13D |
unc-13 homolog D |
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IAGP |
|
HPO |
|
MIM:608898 |
NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785
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G |
UNC45B |
unc-45 myosin chaperone B |
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IAGP |
|
HPO |
|
MIM:619178 |
NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345
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UPB1 |
beta-ureidopropionase 1 |
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IAGP |
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HPO |
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MIM:613161 |
NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
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UQCRB |
ubiquinol-cytochrome c reductase binding protein |
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IAGP |
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HPO |
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MIM:615158 |
NCBI chr 8:96,222,947...96,235,545
Ensembl chr 8:96,222,947...96,235,546
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UQCRQ |
ubiquinol-cytochrome c reductase complex III subunit VII |
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IAGP |
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HPO |
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MIM:615159 |
NCBI chr 5:132,866,642...132,868,847
Ensembl chr 5:132,866,630...132,868,847
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:604173 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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USH1C |
USH1 protein network component harmonin |
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IAGP |
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HPO |
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MIM:276900 |
NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
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USP53 |
ubiquitin specific peptidase 53 |
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IAGP |
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HPO |
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MIM:619658 |
NCBI chr 4:119,212,601...119,295,518
Ensembl chr 4:119,212,587...119,295,518
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UVSSA |
UV stimulated scaffold protein A |
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IAGP |
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HPO |
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MIM:614640 |
NCBI chr 4:1,342,011...1,395,989
Ensembl chr 4:1,345,691...1,395,989
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VAMP1 |
vesicle associated membrane protein 1 |
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IAGP |
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HPO |
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MIM:618323 |
NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
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VAMP2 |
vesicle associated membrane protein 2 |
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IAGP |
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HPO |
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MIM:618760 |
NCBI chr17:8,159,147...8,162,948
Ensembl chr17:8,159,149...8,163,546
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VARS1 |
valyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:617802 |
NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752
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VARS2 |
valyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:615917 |
NCBI chr 6:30,914,238...30,926,459
Ensembl chr 6:30,914,205...30,926,459
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VDR |
vitamin D receptor |
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IAGP |
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HPO |
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MIM:277440 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VHL |
von Hippel-Lindau tumor suppressor |
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IAGP |
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HPO |
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MIM:263400 |
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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VLDLR |
very low density lipoprotein receptor |
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IAGP |
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HPO |
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MIM:224050 |
NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
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VPS13D |
vacuolar protein sorting 13 homolog D |
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IAGP |
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HPO |
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MIM:607317 |
NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047
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VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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MIM:617303 |
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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VPS33B |
VPS33B late endosome and lysosome associated |
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IAGP |
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HPO |
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MIM:620009 MIM:620010 |
NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603
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VPS37A |
VPS37A subunit of ESCRT-I |
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IAGP |
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HPO |
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MIM:614898 |
NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
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VPS41 |
VPS41 subunit of HOPS complex |
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IAGP |
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HPO |
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MIM:619389 |
NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394
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VPS45 |
vacuolar protein sorting 45 homolog |
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IAGP |
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HPO |
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MIM:615285 |
NCBI chr 1:150,067,382...150,145,329
Ensembl chr 1:150,067,279...150,145,329
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VPS53 |
VPS53 subunit of GARP complex |
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IAGP |
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HPO |
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MIM:615851 |
NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717
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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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MIM:616708 |
NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112
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WARS1 |
tryptophanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:620317 |
NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805
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WARS2 |
tryptophanyl tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:617710 |
NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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MIM:301000 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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WASHC4 |
WASH complex subunit 4 |
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IAGP |
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HPO |
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MIM:615817 |
NCBI chr12:105,107,731...105,169,130
Ensembl chr12:105,107,324...105,169,130
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WDR26 |
WD repeat domain 26 |
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IAGP |
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HPO |
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MIM:617616 |
NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
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WDR4 |
WD repeat domain 4 |
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IAGP |
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HPO |
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MIM:618347 |
NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
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WDR45B |
WD repeat domain 45B |
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IAGP |
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HPO |
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MIM:617977 |
NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553
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WDR62 |
WD repeat domain 62 |
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IAGP |
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HPO |
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MIM:604317 |
NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108
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WDR73 |
WD repeat domain 73 |
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IAGP |
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HPO |
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MIM:251300 |
NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
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WDR81 |
WD repeat domain 81 |
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IAGP |
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HPO |
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MIM:610185 |
NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
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WLS |
Wnt ligand secretion mediator |
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IAGP |
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HPO |
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MIM:619648 |
NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120
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WNK1 |
WNK lysine deficient protein kinase 1 |
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IAGP |
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HPO |
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MIM:201300 |
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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MIM:614322 MIM:616211 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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YARS1 |
tyrosyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619418 |
NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
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YARS2 |
tyrosyl-tRNA synthetase 2 |
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IAGP |
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HPO |
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MIM:613561 |
NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897
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YIF1B |
Yip1 interacting factor homolog B, membrane trafficking protein |
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IAGP |
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HPO |
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MIM:619125 |
NCBI chr19:38,303,558...38,321,887
Ensembl chr19:38,303,558...38,317,273
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YIPF5 |
Yip1 domain family member 5 |
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IAGP |
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HPO |
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MIM:619278 |
NCBI chr 5:144,158,162...144,170,659
Ensembl chr 5:144,158,162...144,170,714
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YME1L1 |
YME1 like 1 ATPase |
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IAGP |
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HPO |
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MIM:617302 |
NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,088...27,155,266
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YRDC |
yrdC N6-threonylcarbamoyltransferase domain containing |
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IAGP |
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HPO |
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MIM:619609 |
NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208
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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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MIM:617665 |
NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991
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ZAP70 |
zeta chain of T cell receptor associated protein kinase 70 |
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IAGP |
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HPO |
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MIM:269840 MIM:617006 |
NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,744,327
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ZBTB18 |
zinc finger and BTB domain containing 18 |
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IAGP |
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HPO |
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MIM:612337 |
NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476
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ZFYVE19 |
zinc finger FYVE-type containing 19 |
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IAGP |
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HPO |
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MIM:619849 |
NCBI chr15:40,807,089...40,815,084
Ensembl chr15:40,807,086...40,815,084
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ZIC1 |
Zic family member 1 |
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IAGP |
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HPO |
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MIM:616602 |
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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MIM: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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MIM:608612 |
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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MIM:619522 |
NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
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ZMYM3 |
zinc finger MYM-type containing 3 |
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IAGP |
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HPO |
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MIM:301111 |
NCBI chr X:71,239,624...71,255,290
Ensembl chr X:71,239,624...71,255,146
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ZMYND10 |
zinc finger MYND-type containing 10 |
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IAGP |
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HPO |
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MIM:615444 |
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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ZMYND11 |
zinc finger MYND-type containing 11 |
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IAGP |
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HPO |
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MIM:616083 |
NCBI chr10:130,088...254,637
Ensembl chr10:130,088...254,637
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ZNF142 |
zinc finger protein 142 |
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IAGP |
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HPO |
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MIM:618425 |
NCBI chr 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655
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ZNF407 |
zinc finger protein 407 |
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IAGP |
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HPO |
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MIM:619557 |
NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671
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ZNF408 |
zinc finger protein 408 |
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IAGP |
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HPO |
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MIM:616468 |
NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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ZNF462 |
zinc finger protein 462 |
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IAGP |
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HPO |
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MIM:618619 |
NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
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ZNF526 |
zinc finger protein 526 |
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IAGP |
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HPO |
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MIM:619877 |
NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201
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ZNF668 |
zinc finger protein 668 |
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IAGP |
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HPO |
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MIM:620194 |
NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240
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ZNFX1 |
zinc finger NFX1-type containing 1 |
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IAGP |
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HPO |
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MIM:619644 |
NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
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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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MIM:617865 |
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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