Term: | Ophthalmoplegia |
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Accession: | HP:0000602
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browse the term
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Definition: | Paralysis of one or more extraocular muscles that are responsible for eye movements. |
Synonyms: | exact_synonym: | Eye muscle paralysis; Paralysis of extraocular eye movement |
| xref: | MESH:D009886; SNOMEDCT_US:16110005; UMLS:C0029089 |
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ABCA4 |
ATP binding cassette subfamily A member 4 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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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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OMIM:301310 |
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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ORPHA:171430 ORPHA:171433 ORPHA:2020 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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OMIM:615688 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ADPRS |
ADP-ribosylserine hydrolase |
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IAGP |
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HPO |
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OMIM:618170 |
NCBI chr 1:36,088,892...36,093,932
Ensembl chr 1:36,088,892...36,093,932
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AGBL5 |
AGBL carboxypeptidase 5 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:27,050,364...27,070,618
Ensembl chr 2:27,042,364...27,070,622
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AGRN |
agrin |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
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AHI1 |
Abelson helper integration site 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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AHR |
aryl hydrocarbon receptor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
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ARHGEF18 |
Rho/Rac guanine nucleotide exchange factor 18 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485
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ARL2BP |
ADP ribosylation factor like GTPase 2 binding protein |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635
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ARL3 |
ADP ribosylation factor like GTPase 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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ARL6 |
ADP ribosylation factor like GTPase 6 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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ATP5F1A |
ATP synthase F1 subunit alpha |
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IAGP |
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HPO |
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ORPHA:254913 |
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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ATP5F1D |
ATP synthase F1 subunit delta |
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IAGP |
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HPO |
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ORPHA:254913 |
NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
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ATP5F1E |
ATP synthase F1 subunit epsilon |
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IAGP |
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HPO |
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ORPHA:254913 |
NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345
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ATP5MK |
ATP synthase membrane subunit k |
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IAGP |
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HPO |
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OMIM:618683 ORPHA:254913 |
NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492
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ATPAF1 |
ATP synthase mitochondrial F1 complex assembly factor 1 |
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IAGP |
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HPO |
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ORPHA:254913 |
NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867
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ATPAF2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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IAGP |
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HPO |
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ORPHA:254913 |
NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209
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ATXN2 |
ataxin 2 |
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IAGP |
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HPO |
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OMIM:183090 |
NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
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ATXN7 |
ataxin 7 |
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IAGP |
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HPO |
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ORPHA:94147 |
NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462
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BAP1 |
BRCA1 associated protein 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BBS2 |
Bardet-Biedl syndrome 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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BEST1 |
bestrophin 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
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BIN1 |
bridging integrator 1 |
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IAGP |
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HPO |
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OMIM:255200 ORPHA:169186 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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CA4 |
carbonic anhydrase 4 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:60,149,973...60,179,021
Ensembl chr17:60,149,942...60,170,899
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CACNA1S |
calcium voltage-gated channel subunit alpha1 S |
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IAGP |
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HPO |
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OMIM:620246 |
NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
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CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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CDHR1 |
cadherin related family member 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:84,194,537...84,219,621
Ensembl chr10:84,194,537...84,219,621
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CERKL |
ceramide kinase like |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,535,041...181,680,665
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CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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CHAT |
choline O-acetyltransferase |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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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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OMIM:601462 |
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
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CHRNB1 |
cholinergic receptor nicotinic beta 1 subunit |
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IAGP |
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HPO |
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OMIM:616313 |
NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
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CHRND |
cholinergic receptor nicotinic delta subunit |
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IAGP |
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HPO |
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OMIM: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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OMIM:616324 |
NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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CISD2 |
CDGSH iron sulfur domain 2 |
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IAGP |
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HPO |
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ORPHA:3463 |
NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
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CLRN1 |
clarin 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
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CNGA1 |
cyclic nucleotide gated channel subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:47,935,977...48,016,681
Ensembl chr 4:47,935,977...48,016,681
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CNGB1 |
cyclic nucleotide gated channel subunit beta 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128
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COL13A1 |
collagen type XIII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
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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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ORPHA:791 |
NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455
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CRX |
cone-rod homeobox |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
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DHDDS |
dehydrodolichyl diphosphate synthase subunit |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
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DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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OMIM:618731 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DHX38 |
DEAH-box helicase 38 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:72,093,847...72,112,912
Ensembl chr16:72,093,613...72,112,912
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DNM1L |
dynamin 1 like |
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IAGP |
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HPO |
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ORPHA:98673 |
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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OMIM:614924 |
NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
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EYS |
eyes shut homolog |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:63,719,980...65,707,226
Ensembl chr 6:63,719,980...65,707,226
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FA2H |
fatty acid 2-hydroxylase |
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IAGP |
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HPO |
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ORPHA:171629 |
NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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FAM161A |
FAM161 centrosomal protein A |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:61,800,240...61,854,060
Ensembl chr 2:61,824,848...61,854,143
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FSCN2 |
fascin actin-bundling protein 2, retinal |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:81,515,062...81,537,130
Ensembl chr17:81,528,377...81,537,130
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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OMIM:230900 ORPHA:2072 ORPHA:77260 ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GUCA1B |
guanylate cyclase activator 1B |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:42,183,284...42,194,956
Ensembl chr 6:42,183,284...42,194,956
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HACD1 |
3-hydroxyacyl-CoA dehydratase 1 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
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HGSNAT |
heparan-alpha-glucosaminide N-acetyltransferase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855
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HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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IAGP |
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HPO |
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OMIM:620460 |
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:163200 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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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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ORPHA:791 |
NCBI chr15:78,149,362...78,171,945
Ensembl chr15:78,131,498...78,171,945
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IDH3B |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr20:2,658,395...2,664,216
Ensembl chr20:2,658,395...2,664,219
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IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IFT88 |
intraflagellar transport 88 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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IMPDH1 |
inosine monophosphate dehydrogenase 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:128,392,277...128,409,982
Ensembl chr 7:128,392,277...128,409,986
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IMPG1 |
interphotoreceptor matrix proteoglycan 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678
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IMPG2 |
interphotoreceptor matrix proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:101,222,546...101,320,575
Ensembl chr 3:101,222,546...101,320,575
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ITGA7 |
integrin subunit alpha 7 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
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KCND3 |
potassium voltage-gated channel subfamily D member 3 |
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IAGP |
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HPO |
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ORPHA:98772 |
NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
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KIAA1549 |
KIAA1549 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389
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KIZ |
kizuna centrosomal protein |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr20:21,125,975...21,246,622
Ensembl chr20:21,125,983...21,246,622
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KLHL40 |
kelch like family member 40 |
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IAGP |
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HPO |
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ORPHA:171430 |
NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544
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KLHL41 |
kelch like family member 41 |
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IAGP |
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HPO |
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ORPHA:171430 ORPHA:171433 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
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KLHL7 |
kelch like family member 7 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:163200 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LAMA2 |
laminin subunit alpha 2 |
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IAGP |
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HPO |
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OMIM:607855 |
NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
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LMOD3 |
leiomodin 3 |
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IAGP |
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HPO |
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OMIM:616165 ORPHA:171430 |
NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032
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LRAT |
lecithin retinol acyltransferase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
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MAK |
male germ cell associated kinase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:10,762,723...10,838,539
Ensembl chr 6:10,762,723...10,838,553
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MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
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MCM3AP |
minichromosome maintenance complex component 3 associated protein |
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IAGP |
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HPO |
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OMIM:618124 |
NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297
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MERTK |
MER proto-oncogene, tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561
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MICU1 |
mitochondrial calcium uptake 1 |
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IAGP |
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HPO |
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ORPHA:401768 |
NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131
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MT-ATP6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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IAGP |
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HPO |
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ORPHA:254913 |
NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
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MT-ATP8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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IAGP |
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HPO |
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ORPHA:254913 |
NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
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MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MT-CYB |
mitochondrially encoded cytochrome b |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
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MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TC |
mitochondrially encoded tRNA-Cys (UGU/C) |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826
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MT-TF |
mitochondrially encoded tRNA-Phe (UUU/C) |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:577...647
Ensembl chr MT:577...647
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MT-TK |
mitochondrially encoded tRNA-Lys (AAA/G) |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
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MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1 |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TQ |
mitochondrially encoded tRNA-Gln (CAA/G) |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
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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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OMIM:540000 |
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TS2 |
mitochondrially encoded tRNA-Ser (AGU/C) 2 |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MT-TV |
mitochondrially encoded tRNA-Val (GUN) |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
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MT-TW |
mitochondrially encoded tRNA-Trp (UGA/G) |
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IAGP |
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HPO |
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OMIM:540000 |
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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MTRFR |
mitochondrial translation release factor in rescue |
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IAGP |
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HPO |
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OMIM:613559 ORPHA:254930 ORPHA:320375 |
NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
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MTTP |
microsomal triglyceride transfer protein |
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IAGP |
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HPO |
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ORPHA:14 |
NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997
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MUSK |
muscle associated receptor tyrosine kinase |
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IAGP |
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HPO |
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OMIM:616325 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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MYH2 |
myosin heavy chain 2 |
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IAGP |
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HPO |
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OMIM:605637 |
NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700
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MYL2 |
myosin light chain 2 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443
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MYMK |
myomaker, myoblast fusion factor |
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IAGP |
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HPO |
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OMIM:254940 |
NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
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MYO9A |
myosin IXA |
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IAGP |
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HPO |
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OMIM:618198 ORPHA:98914 |
NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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NADK2 |
NAD kinase 2, mitochondrial |
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IAGP |
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HPO |
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OMIM:616034 |
NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279
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NAXD |
NAD(P)HX dehydratase |
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IAGP |
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HPO |
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OMIM:618321 |
NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996
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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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OMIM:618226 |
NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
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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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OMIM:618225 |
NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554
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NEB |
nebulin |
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IAGP |
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HPO |
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ORPHA:171430 ORPHA:171433 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
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NEK2 |
NIMA related kinase 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630
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NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
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NOTCH2NLC |
notch 2 N-terminal like C |
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IAGP |
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HPO |
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OMIM:619473 ORPHA:2289 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
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NR2E3 |
nuclear receptor subfamily 2 group E member 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:163200 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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NRL |
neural retina leucine zipper |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:24,078,662...24,114,949
Ensembl chr14:24,078,662...24,115,010
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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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ORPHA:791 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IAGP |
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HPO |
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OMIM:125250 ORPHA:98673 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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PABPN1 |
poly(A) binding protein nuclear 1 |
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IAGP |
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HPO |
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ORPHA:270 |
NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163
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PCARE |
photoreceptor cilium actin regulator |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
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PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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ORPHA:85167 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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PDE6A |
phosphodiesterase 6A |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793
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PDE6B |
phosphodiesterase 6B |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:625,573...670,782
Ensembl chr 4:625,573...670,782
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PDE6G |
phosphodiesterase 6G |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:81,650,459...81,663,127
Ensembl chr17:81,650,459...81,663,112
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PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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IAGP |
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HPO |
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OMIM:108145 OMIM:114300 ORPHA:1154 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:257 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PLXND1 |
plexin D1 |
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IAGP |
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HPO |
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ORPHA:570 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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PMPCA |
peptidase, mitochondrial processing subunit alpha |
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IAGP |
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HPO |
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ORPHA:1170 |
NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992
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POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
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HPO |
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ORPHA:254892 ORPHA:94125 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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POLG2 |
DNA polymerase gamma 2, accessory subunit |
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IAGP |
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HPO |
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ORPHA:254892 |
NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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PRCD |
photoreceptor disc component |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:76,527,586...76,553,580
Ensembl chr17:76,527,586...76,553,578
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PROM1 |
prominin 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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PRPF3 |
pre-mRNA processing factor 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:150,321,468...150,353,233
Ensembl chr 1:150,321,479...150,353,233
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PRPF31 |
pre-mRNA processing factor 31 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:54,115,754...54,131,713
Ensembl chr19:54,115,410...54,131,719
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PRPF4 |
pre-mRNA splicing tri-snRNP complex factor PRPF4 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 9:113,275,658...113,292,905
Ensembl chr 9:113,275,642...113,294,009
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PRPF6 |
pre-mRNA processing factor 6 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100
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PRPF8 |
pre-mRNA processing factor 8 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
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PRPH2 |
peripherin 2 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597
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RBP3 |
retinol binding protein 3 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881
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RDH12 |
retinol dehydrogenase 12 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
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REEP6 |
receptor accessory protein 6 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927
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REV3L |
REV3 like, DNA directed polymerase zeta catalytic subunit |
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IAGP |
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HPO |
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ORPHA:570 |
NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
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RGR |
retinal G protein coupled receptor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr10:84,245,053...84,259,960
Ensembl chr10:84,230,666...84,259,960
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RHO |
rhodopsin |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 3:129,528,639...129,535,344
Ensembl chr 3:129,528,639...129,535,344
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RLBP1 |
retinaldehyde binding protein 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,221,614
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RNASEH1 |
ribonuclease H1 |
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IAGP |
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HPO |
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OMIM:616479 |
NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
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ROM1 |
retinal outer segment membrane protein 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:62,613,257...62,615,116
Ensembl chr11:62,611,722...62,615,116
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RP1 |
RP1 axonemal microtubule associated |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 8:54,559,185...54,871,234
Ensembl chr 8:54,509,422...54,871,720
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RP1L1 |
RP1 like 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 8:10,606,349...10,655,143
Ensembl chr 8:10,606,349...10,712,187
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RP2 |
RP2 activator of ARL3 GTPase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr X:46,837,043...46,882,358
Ensembl chr X:46,837,043...46,882,358
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RP9 |
RP9 pre-mRNA splicing factor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 7:33,094,797...33,109,404
Ensembl chr 7:33,094,797...33,109,405
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RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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IAGP |
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HPO |
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ORPHA:254892 |
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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G |
RYR1 |
ryanodine receptor 1 |
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IAGP |
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HPO |
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ORPHA:169186 ORPHA:424107 ORPHA:597 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G |
SAG |
S-antigen visual arrestin |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055
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G |
SBF1 |
SET binding factor 1 |
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IAGP |
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HPO |
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OMIM:615284 |
NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923
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SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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OMIM:620351 OMIM:620369 ORPHA:99735 ORPHA:99736 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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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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OMIM:252011 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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G |
SELENON |
selenoprotein N |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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G |
SEMA4A |
semaphorin 4A |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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G |
SLC18A3 |
solute carrier family 18 member A3 |
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IAGP |
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HPO |
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OMIM:617239 ORPHA:98914 |
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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G |
SLC25A1 |
solute carrier family 25 member 1 |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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IAGP |
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HPO |
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ORPHA:254892 |
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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G |
SLC5A7 |
solute carrier family 5 member 7 |
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IAGP |
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HPO |
|
ORPHA:98914 |
NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
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G |
SLC7A14 |
solute carrier family 7 member 14 |
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IAGP |
|
HPO |
|
ORPHA:791 |
NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075
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G |
SLC9A6 |
solute carrier family 9 member A6 |
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IAGP |
|
HPO |
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OMIM:300243 ORPHA:85278 |
NCBI chr X:135,973,837...136,047,269
Ensembl chr X:135,973,841...136,047,269
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G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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G |
SMARCE1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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G |
SNAP25 |
synaptosome associated protein 25 |
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IAGP |
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HPO |
|
ORPHA:98914 |
NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
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G |
SNRNP200 |
small nuclear ribonucleoprotein U5 subunit 200 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:96,274,338...96,305,546
Ensembl chr 2:96,274,338...96,321,271
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G |
SPATA7 |
spermatogenesis associated 7 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:88,385,657...88,470,350
Ensembl chr14:88,384,924...88,470,350
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G |
SPEG |
striated muscle enriched protein kinase |
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IAGP |
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HPO |
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OMIM:615959 ORPHA:169186 |
NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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G |
STUB1 |
STIP1 homology and U-box containing protein 1 |
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IAGP |
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HPO |
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ORPHA:412057 |
NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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G |
SUCLA2 |
succinate-CoA ligase ADP-forming subunit beta |
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IAGP |
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HPO |
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OMIM:612073 |
NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
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SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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SYT2 |
synaptotagmin 2 |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TGM6 |
transglutaminase 6 |
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IAGP |
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HPO |
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ORPHA:276193 |
NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
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G |
TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
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G |
TPK1 |
thiamin pyrophosphokinase 1 |
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IAGP |
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HPO |
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OMIM:614458 |
NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395
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G |
TPM2 |
tropomyosin 2 |
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IAGP |
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HPO |
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ORPHA:2020 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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G |
TPM3 |
tropomyosin 3 |
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IAGP |
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HPO |
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OMIM:255310 ORPHA:171433 ORPHA:2020 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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G |
TSPYL1 |
TSPY like 1 |
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IAGP |
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HPO |
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ORPHA:168593 |
NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
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TTC8 |
tetratricopeptide repeat domain 8 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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G |
TTN |
titin |
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IAGP |
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HPO |
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ORPHA:169186 |
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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G |
TUB |
TUB bipartite transcription factor |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:8,019,059...8,106,243
Ensembl chr11:8,019,244...8,106,243
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TULP1 |
TUB like protein 1 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 6:35,497,874...35,512,896
Ensembl chr 6:35,497,874...35,512,896
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G |
TWNK |
twinkle mtDNA helicase |
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IAGP |
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HPO |
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OMIM:271245 OMIM:616138 ORPHA:1186 ORPHA:254892 |
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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USH2A |
usherin |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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VAMP1 |
vesicle associated membrane protein 1 |
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IAGP |
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HPO |
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ORPHA:98914 |
NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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IAGP |
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HPO |
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ORPHA:3463 |
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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G |
ZNF408 |
zinc finger protein 408 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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G |
ZNF513 |
zinc finger protein 513 |
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IAGP |
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HPO |
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ORPHA:791 |
NCBI chr 2:27,377,235...27,380,734
Ensembl chr 2:27,377,235...27,380,790
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G |
ACADS |
acyl-CoA dehydrogenase short chain |
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IAGP |
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HPO |
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OMIM:201470 |
NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008
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G |
ATG7 |
autophagy related 7 |
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IAGP |
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HPO |
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OMIM:619422 |
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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G |
ATXN3 |
ataxin 3 |
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IAGP |
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HPO |
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OMIM:109150 |
NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
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BIN1 |
bridging integrator 1 |
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IAGP |
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HPO |
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ORPHA:169189 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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G |
CHAT |
choline O-acetyltransferase |
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IAGP |
ClinVar Annotator: match by term: External ophthalmoplegia |
ClinVar |
PMID:12548525 PMID:15701560 PMID:25741868 PMID:28492532 |
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NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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G |
DNM2 |
dynamin 2 |
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IAGP |
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HPO |
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OMIM:160150 ORPHA:169189 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
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G |
FA2H |
fatty acid 2-hydroxylase |
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IAGP |
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HPO |
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OMIM:612319 |
NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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G |
FRG1 |
FSHD region gene 1 |
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IAGP |
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HPO |
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OMIM:158900 |
NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202
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G |
GIPC1 |
GIPC PDZ domain containing family member 1 |
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IAGP |
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HPO |
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OMIM:618940 |
NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
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G |
HPDL |
4-hydroxyphenylpyruvate dioxygenase like |
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IAGP |
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HPO |
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OMIM:619026 |
NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
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G |
LIG3 |
DNA ligase 3 |
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IAGP |
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HPO |
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ORPHA:298 |
NCBI chr17:34,980,512...35,010,872
Ensembl chr17:34,980,512...35,009,743
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G |
LRP12 |
LDL receptor related protein 12 |
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IAGP |
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HPO |
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OMIM:164310 |
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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G |
LYRM7 |
LYR motif containing 7 |
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IAGP |
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HPO |
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OMIM:615838 |
NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428
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G |
MFF |
mitochondrial fission factor |
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IAGP |
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HPO |
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OMIM:617086 ORPHA:485421 |
NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
ClinVar Annotator: match by term: External ophthalmoplegia |
ClinVar |
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NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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G |
MT-TN |
mitochondrially encoded tRNA-Asn (AAU/C) |
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IAGP |
ClinVar Annotator: match by term: External ophthalmoplegia |
ClinVar |
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NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729
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MTM1 |
myotubularin 1 |
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IAGP |
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HPO |
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OMIM:310400 |
NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143
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G |
MTMR14 |
myotubularin related protein 14 |
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IAGP |
|
HPO |
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OMIM:160150 ORPHA:169189 |
NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393
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G |
MTRFR |
mitochondrial translation release factor in rescue |
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IAGP |
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HPO |
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OMIM:613559 |
NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
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G |
MYF5 |
myogenic factor 5 |
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IAGP |
ClinVar Annotator: match by term: Progressive paralysis or weakness of muscles of eye movement |
ClinVar HPO |
PMID:10844060 PMID:29887215 |
OMIM:618155 |
NCBI chr12:80,716,912...80,719,671
Ensembl chr12:80,716,912...80,719,671
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G |
MYF6 |
myogenic factor 6 |
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IAGP |
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HPO |
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ORPHA:169189 |
NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474
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G |
NDUFAF2 |
NADH:ubiquinone oxidoreductase complex assembly factor 2 |
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IAGP |
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HPO |
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OMIM:618233 |
NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531
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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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OMIM:619012 |
NCBI chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832
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G |
NUTM2B-AS1 |
NUTM2B antisense RNA 1 |
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IAGP |
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HPO |
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OMIM:618637 |
NCBI chr10:79,691,500...79,826,594
Ensembl chr10:79,661,394...79,826,594
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
|
HPO |
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OMIM:607459 ORPHA:254886 ORPHA:254892 ORPHA:298 |
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 |
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HPO |
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ORPHA:254892 |
NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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G |
RILPL1 |
Rab interacting lysosomal protein like 1 |
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IAGP |
|
HPO |
|
OMIM:619790 |
NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
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G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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IAGP |
ClinVar Annotator: match by term: Ophthalmoplegia, Chronic Progressive External |
ClinVar HPO |
PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153 More...
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OMIM:612075 ORPHA:254892 ORPHA:298 |
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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G |
RYR1 |
ryanodine receptor 1 |
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IAGP |
|
HPO |
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OMIM:255320 ORPHA:169189 ORPHA:98905 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G |
SALL4 |
spalt like transcription factor 4 |
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IAGP |
|
HPO |
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OMIM:147750 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
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IAGP |
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HPO |
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OMIM:614198 OMIM:620351 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
|
HPO |
|
ORPHA:3208 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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G |
SDHAF1 |
succinate dehydrogenase complex assembly factor 1 |
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IAGP |
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HPO |
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ORPHA:3208 |
NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312
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G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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HPO |
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ORPHA:3208 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032
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G |
SDHD |
succinate dehydrogenase complex subunit D |
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IAGP |
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HPO |
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ORPHA:3208 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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G |
SLC19A3 |
solute carrier family 19 member 3 |
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IAGP |
|
HPO |
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OMIM:607483 |
NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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IAGP |
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HPO |
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ORPHA:254892 |
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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G |
SLC52A3 |
solute carrier family 52 member 3 |
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IAGP |
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HPO |
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OMIM:211530 |
NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
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G |
STIM1 |
stromal interaction molecule 1 |
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IAGP |
|
HPO |
|
OMIM:160565 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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G |
STUB1 |
STIP1 homology and U-box containing protein 1 |
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IAGP |
|
HPO |
|
OMIM:615768 |
NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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G |
TK2 |
thymidine kinase 2 |
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IAGP |
|
HPO |
|
ORPHA:254886 |
NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
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G |
TWNK |
twinkle mtDNA helicase |
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IAGP |
ClinVar Annotator: match by term: Ophthalmoplegia, Chronic Progressive External |
ClinVar HPO |
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32161153 More...
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OMIM:607459 ORPHA:254892 |
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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G |
TYMP |
thymidine phosphorylase |
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IAGP |
|
HPO |
|
ORPHA:298 |
NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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G |
AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
|
HPO |
|
ORPHA:2965 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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G |
CDH23 |
cadherin related 23 |
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IAGP |
|
HPO |
|
ORPHA:2965 ORPHA:91347 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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G |
MEN1 |
menin 1 |
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IAGP |
|
HPO |
|
ORPHA:2965 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
COL25A1 |
collagen type XXV alpha 1 chain |
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IAGP |
|
HPO |
|
ORPHA:45358 |
NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752
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G |
KIF21A |
kinesin family member 21A |
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IAGP |
|
HPO |
|
ORPHA:45358 |
NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
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G |
PHOX2A |
paired like homeobox 2A |
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IAGP |
|
HPO |
|
ORPHA:45358 |
NCBI chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664
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G |
TUBA1A |
tubulin alpha 1a |
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IAGP |
|
HPO |
|
ORPHA:45358 |
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
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G |
TUBB2B |
tubulin beta 2B class IIb |
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IAGP |
|
HPO |
|
ORPHA:45358 |
NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730
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G |
TUBB3 |
tubulin beta 3 class III |
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IAGP |
|
HPO |
|
OMIM:600638 ORPHA:45358 |
NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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G |
APTX |
aprataxin |
|
IAGP |
|
HPO |
|
OMIM:208920 |
NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130
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G |
ATXN3 |
ataxin 3 |
|
IAGP |
|
HPO |
|
ORPHA:276238 ORPHA:276241 ORPHA:276244 |
NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
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G |
C1QBP |
complement C1q binding protein |
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IAGP |
|
HPO |
|
OMIM:617713 |
NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830
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G |
DGUOK |
deoxyguanosine kinase |
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IAGP |
|
HPO |
|
OMIM:617070 ORPHA:329314 |
NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961
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G |
DNA2 |
DNA replication helicase/nuclease 2 |
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IAGP |
|
HPO |
|
OMIM:615156 ORPHA:352470 |
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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G |
GIPC1 |
GIPC PDZ domain containing family member 1 |
|
IAGP |
|
HPO |
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ORPHA:98897 |
NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
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LRP12 |
LDL receptor related protein 12 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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MGME1 |
mitochondrial genome maintenance exonuclease 1 |
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IAGP |
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HPO |
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OMIM:615084 ORPHA:352447 |
NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122
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MT-ATP8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
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IAGP |
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HPO |
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ORPHA:480 |
NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572
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MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TF |
mitochondrially encoded tRNA-Phe (UUU/C) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:577...647
Ensembl chr MT:577...647
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MT-TH |
mitochondrially encoded tRNA-His (CAU/C) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
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MT-TK |
mitochondrially encoded tRNA-Lys (AAA/G) |
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IAGP |
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HPO |
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ORPHA:1349 |
NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
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MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1 |
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IAGP |
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HPO |
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ORPHA:480 ORPHA:550 ORPHA:663 |
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TL2 |
mitochondrially encoded tRNA-Leu (CUN) 2 |
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IAGP |
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HPO |
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ORPHA:663 |
NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336
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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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ORPHA:663 |
NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729
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MT-TQ |
mitochondrially encoded tRNA-Gln (CAA/G) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
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MT-TS1 |
mitochondrially encoded tRNA-Ser (UCN) 1 |
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IAGP |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia |
ClinVar HPO |
PMID:29398297 |
ORPHA:550 ORPHA:663 |
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TS2 |
mitochondrially encoded tRNA-Ser (AGU/C) 2 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MT-TT |
mitochondrially encoded tRNA-Thr (ACN) |
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IAGP |
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HPO |
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ORPHA:254857 |
NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
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MT-TW |
mitochondrially encoded tRNA-Trp (UGA/G) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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NOTCH2NLC |
notch 2 N-terminal like C |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
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OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IAGP |
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HPO |
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OMIM:165500 ORPHA:1215 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
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HPO |
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OMIM:157640 OMIM:258450 OMIM:603041 OMIM:607459 OMIM:613662 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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POLG2 |
DNA polymerase gamma 2, accessory subunit |
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IAGP |
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HPO |
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OMIM:610131 |
NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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POLRMT |
RNA polymerase mitochondrial |
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IAGP |
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HPO |
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OMIM:619743 |
NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
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RILPL1 |
Rab interacting lysosomal protein like 1 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
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RNASEH1 |
ribonuclease H1 |
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IAGP |
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HPO |
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OMIM:616479 ORPHA:329336 |
NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
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RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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IAGP |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia |
ClinVar HPO |
PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153 More...
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OMIM:613077 ORPHA:329336 ORPHA:480 |
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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SLC25A4 |
solute carrier family 25 member 4 |
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IAGP |
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HPO |
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OMIM:609283 |
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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TK2 |
thymidine kinase 2 |
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IAGP |
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HPO |
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OMIM:617069 ORPHA:254875 |
NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
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TOP3A |
DNA topoisomerase III alpha |
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IAGP |
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HPO |
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OMIM:618098 |
NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007
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TWNK |
twinkle mtDNA helicase |
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IAGP |
ClinVar Annotator: match by term: Progressive external ophthalmoplegia |
ClinVar HPO |
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32161153 More...
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OMIM:607459 OMIM:609286 |
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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TYMP |
thymidine phosphorylase |
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IAGP |
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HPO |
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OMIM:603041 |
NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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VARS2 |
valyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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OMIM:615917 |
NCBI chr 6:30,914,238...30,926,459
Ensembl chr 6:30,914,205...30,926,459
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MAPT |
microtubule associated protein tau |
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IAGP |
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) |
RGD |
PMID:19879020 |
RGD:8158095 |
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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ROBO3 |
roundabout guidance receptor 3 |
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IAGP |
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HPO |
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OMIM:607313 |
NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471
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KIF21A |
kinesin family member 21A |
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IAGP |
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HPO |
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OMIM:135700 |
NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
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PHOX2A |
paired like homeobox 2A |
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IAGP |
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HPO |
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OMIM:602078 |
NCBI chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664
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PMPCA |
peptidase, mitochondrial processing subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Restrictive external ophthalmoplegia, bilateral |
ClinVar |
PMID:10528257 PMID:25808372 |
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NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992
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ATXN1 |
ataxin 1 |
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IAGP |
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HPO |
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OMIM:164400 |
NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491
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ATXN2 |
ataxin 2 |
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IAGP |
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HPO |
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ORPHA:98756 |
NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
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ATXN3 |
ataxin 3 |
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IAGP |
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HPO |
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OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 |
NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
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ATXN7 |
ataxin 7 |
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IAGP |
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HPO |
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OMIM:164500 |
NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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OMIM:231005 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:3095 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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GABBR2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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IAGP |
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HPO |
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ORPHA:3095 |
NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935
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GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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ORPHA:208447 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
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HPO |
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ORPHA:3095 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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NTNG1 |
netrin G1 |
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IAGP |
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HPO |
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ORPHA:3095 |
NCBI chr 1:107,140,088...107,484,923
Ensembl chr 1:107,140,007...107,484,923
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POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
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HPO |
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OMIM:157640 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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ORPHA:3095 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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OMIM:602152 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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Term paths to the root
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