Term: | Hypoplasia of penis |
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Accession: | HP:0008736
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browse the term
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Synonyms: | exact_synonym: | Underdeveloped penis |
| alt_id: | HP:0008632 |
| xref: | SNOMEDCT_US:34911001; UMLS:C0266435 |
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ANK1 |
ankyrin 1 |
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IAGP |
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HPO |
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ORPHA:251066 |
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
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ANOS1 |
anosmin 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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ARL6 |
ADP ribosylation factor like GTPase 6 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
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IAGP |
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HPO |
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ORPHA:3157 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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ORPHA:452 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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ORPHA:847 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
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B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
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BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BBIP1 |
BBSome interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
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BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BBS10 |
Bardet-Biedl syndrome 10 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
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BBS12 |
Bardet-Biedl syndrome 12 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
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BBS2 |
Bardet-Biedl syndrome 2 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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BBS4 |
Bardet-Biedl syndrome 4 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
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BBS5 |
Bardet-Biedl syndrome 5 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
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BBS7 |
Bardet-Biedl syndrome 7 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
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BBS9 |
Bardet-Biedl syndrome 9 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
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BCL7B |
BAF chromatin remodeling complex subunit BCL7B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
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BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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CASZ1 |
castor zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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CCDC141 |
coiled-coil domain containing 141 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
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CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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CDC45 |
cell division cycle 45 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
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CDC6 |
cell division cycle 6 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
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CDON |
cell adhesion associated, oncogene regulated |
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IAGP |
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HPO |
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ORPHA:280200 ORPHA:95496 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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CDT1 |
chromatin licensing and DNA replication factor 1 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
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CEP19 |
centrosomal protein 19 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
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HPO |
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ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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CRIPTO |
cripto, EGF-CFC family member |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
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CRPPA |
CDP-L-ribitol pyrophosphorylase A |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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CUL4B |
cullin 4B |
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IAGP |
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HPO |
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ORPHA:85293 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
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DACT1 |
dishevelled binding antagonist of beta catenin 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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DAG1 |
dystroglycan 1 |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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DCC |
DCC netrin 1 receptor |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
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DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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ORPHA:251510 ORPHA:983 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
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IAGP |
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HPO |
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ORPHA:2849 |
NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
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DISP1 |
dispatched RND transporter family member 1 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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DLL1 |
delta like canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
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DMRT3 |
doublesex and mab-3 related transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732
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DNAJC19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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IAGP |
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HPO |
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ORPHA:66634 |
NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
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DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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DPYSL5 |
dihydropyrimidinase like 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
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DUSP6 |
dual specificity phosphatase 6 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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DYNC2I2 |
dynein 2 intermediate chain 2 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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EED |
embryonic ectoderm development |
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IAGP |
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HPO |
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ORPHA:3447 |
NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813
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EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:96147 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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EIF2S3 |
eukaryotic translation initiation factor 2 subunit gamma |
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IAGP |
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HPO |
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ORPHA:85282 |
NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810
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EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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ORPHA:3447 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FEZF1 |
FEZ family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
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FGF17 |
fibroblast growth factor 17 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:280200 ORPHA:478 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:280200 ORPHA:3157 ORPHA:478 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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FKTN |
fukutin |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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FLRT3 |
fibronectin leucine rich transmembrane protein 3 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
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FOXH1 |
forkhead box H1 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
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FRAS1 |
Fraser extracellular matrix complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:2052 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
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FREM2 |
FRAS1 related extracellular matrix 2 |
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IAGP |
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HPO |
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ORPHA:2052 |
NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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ORPHA:3107 ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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GAS1 |
growth arrest specific 1 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GHR |
growth hormone receptor |
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IAGP |
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HPO |
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ORPHA:633 |
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GMNN |
geminin DNA replication inhibitor |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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GPC3 |
glypican 3 |
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IAGP |
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HPO |
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ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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GPC4 |
glypican 4 |
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IAGP |
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HPO |
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ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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GPR161 |
G protein-coupled receptor 161 |
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IAGP |
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HPO |
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ORPHA:95496 |
NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667
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GRIP1 |
glutamate receptor interacting protein 1 |
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IAGP |
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HPO |
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OMIM:617667 ORPHA:2052 |
NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
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GTF2I |
general transcription factor IIi |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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GTF2IRD1 |
GTF2I repeat domain containing 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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GTF2IRD2 |
GTF2I repeat domain containing 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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HDAC8 |
histone deacetylase 8 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:3157 ORPHA:478 ORPHA:95496 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IFT27 |
intraflagellar transport 27 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
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IFT74 |
intraflagellar transport 74 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
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IFT80 |
intraflagellar transport 80 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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IL17RD |
interleukin 17 receptor D |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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ISL1 |
ISL LIM homeobox 1 |
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IAGP |
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HPO |
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ORPHA:93930 |
NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
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KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:95496 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:99812 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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LIMK1 |
LIM domain kinase 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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LUZP1 |
leucine zipper protein 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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LZTFL1 |
leucine zipper transcription factor like 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
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MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
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HPO |
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ORPHA:228402 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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METTL27 |
methyltransferase like 27 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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MKKS |
MKKS centrosomal shuttling protein |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MLXIPL |
MLX interacting protein like |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MMP23B |
matrix metallopeptidase 23B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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MNX1 |
motor neuron and pancreas homeobox 1 |
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IAGP |
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HPO |
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ORPHA:1552 |
NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
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MYH3 |
myosin heavy chain 3 |
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IAGP |
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HPO |
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ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NDNF |
neuron derived neurotrophic factor |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
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NIPBL |
NIPBL cohesin loading factor |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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NPHP1 |
nephrocystin 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
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IAGP |
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HPO |
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ORPHA:2138 ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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ORPHA:3447 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NXN |
nucleoredoxin |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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ORC1 |
origin recognition complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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ORC4 |
origin recognition complex subunit 4 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
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ORC6 |
origin recognition complex subunit 6 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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ORPHA:3157 ORPHA:990 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:217385 |
NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615
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PDPN |
podoplanin |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PHF6 |
PHD finger protein 6 |
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IAGP |
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HPO |
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ORPHA:127 |
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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OMIM:275400 ORPHA:2377 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
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POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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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:899 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
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POMK |
protein O-mannose kinase |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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PRDM16 |
PR/SET domain 16 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ |
protein kinase C zeta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PROK2 |
prokineticin 2 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
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PROKR2 |
prokineticin receptor 2 |
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IAGP |
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HPO |
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ORPHA:3157 ORPHA:478 ORPHA:95496 |
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PRRX1 |
paired related homeobox 1 |
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IAGP |
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HPO |
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ORPHA:990 |
NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421
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PTCH1 |
patched 1 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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RAB18 |
RAB18, member RAS oncogene family |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207
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RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAD21 |
RAD21 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RFC2 |
replication factor C subunit 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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ROBO1 |
roundabout guidance receptor 1 |
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IAGP |
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HPO |
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ORPHA:95496 |
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RXYLT1 |
ribitol xylosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:899 |
NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792
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SALL1 |
spalt like transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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SC5D |
sterol-C5-desaturase |
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IAGP |
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HPO |
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ORPHA:46059 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
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SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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SCLT1 |
sodium channel and clathrin linker 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
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SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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SEMA3A |
semaphorin 3A |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
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SHH |
sonic hedgehog signaling molecule |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SIX3 |
SIX homeobox 3 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
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SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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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:199 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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IAGP |
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HPO |
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ORPHA:2250 |
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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SOX10 |
SRY-box transcription factor 10 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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G |
SOX2 |
SRY-box transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:3157 ORPHA:77298 |
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SOX3 |
SRY-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:3157 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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ORPHA:2138 ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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SPRY4 |
sprouty RTK signaling antagonist 4 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
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SRD5A2 |
steroid 5 alpha-reductase 2 |
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IAGP |
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HPO |
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ORPHA:753 |
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
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SRY |
sex determining region Y |
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IAGP |
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HPO |
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ORPHA:2138 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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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:280200 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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SUZ12 |
SUZ12 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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ORPHA:3447 |
NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
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TACR3 |
tachykinin receptor 3 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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TBC1D20 |
TBC1 domain family member 20 |
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IAGP |
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HPO |
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ORPHA:2510 |
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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ORPHA:2323 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:3138 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TGIF1 |
TGFB induced factor homeobox 1 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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TMEM270 |
transmembrane protein 270 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:93930 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TRIM32 |
tripartite motif containing 32 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
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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:110 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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TWIST2 |
twist family bHLH transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:920 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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UBE4B |
ubiquitination factor E4B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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ORPHA:2315 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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VAMP7 |
vesicle associated membrane protein 7 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
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VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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WASHC5 |
WASH complex subunit 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WDPCP |
WD repeat containing planar cell polarity effector |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
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WDR11 |
WD repeat domain 11 |
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IAGP |
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HPO |
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ORPHA:478 ORPHA:95496 |
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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ORPHA:93271 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WNT5A |
Wnt family member 5A |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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WNT7A |
Wnt family member 7A |
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IAGP |
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HPO |
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ORPHA:2879 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
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WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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ORPHA:251510 ORPHA:3097 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XRCC4 |
X-ray repair cross complementing 4 |
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IAGP |
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HPO |
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ORPHA:99812 |
NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
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YWHAE |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
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IAGP |
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HPO |
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ORPHA:217385 |
NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222
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ZFPM2 |
zinc finger protein, FOG family member 2 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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ZIC2 |
Zic family member 2 |
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IAGP |
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HPO |
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ORPHA:280200 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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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 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ACTB |
actin beta |
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IAGP |
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HPO |
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OMIM:243310 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ADAR |
adenosine deaminase RNA specific |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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OMIM:607143 ORPHA:79324 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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ALKBH8 |
alkB homolog 8, tRNA methyltransferase |
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IAGP |
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HPO |
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OMIM:618504 |
NCBI chr11:107,502,727...107,565,735
Ensembl chr11:107,502,727...107,565,742
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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ORPHA:64 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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ALX4 |
ALX homeobox 4 |
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IAGP |
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HPO |
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ORPHA:52022 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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ANOS1 |
anosmin 1 |
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IAGP |
ClinVar Annotator: match by term: Micropenis |
ClinVar HPO |
PMID:11297579 PMID:25741868 |
OMIM:308700 ORPHA:478 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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AR |
androgen receptor |
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IAGP |
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HPO |
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OMIM:312300 ORPHA:90797 ORPHA:95706 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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ARCN1 |
archain 1 |
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IAGP |
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HPO |
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OMIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
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ARL6 |
ADP ribosylation factor like GTPase 6 |
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IAGP |
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HPO |
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OMIM:209900 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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OMIM:300215 OMIM:308350 ORPHA:1934 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ATAD3A |
ATPase family AAA domain containing 3A |
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IAGP |
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HPO |
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OMIM:618810 |
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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OMIM:617403 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
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IAGP |
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HPO |
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OMIM:617402 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
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ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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OMIM:301040 OMIM:309580 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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AXL |
AXL receptor tyrosine kinase |
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IAGP |
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HPO |
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OMIM:146110 |
NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766
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B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
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IAGP |
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HPO |
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OMIM:615287 |
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
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B9D2 |
B9 domain containing 2 |
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IAGP |
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HPO |
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OMIM:614175 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
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BBIP1 |
BBSome interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Small penis |
ClinVar |
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NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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OMIM:209900 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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G |
BBS5 |
Bardet-Biedl syndrome 5 |
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IAGP |
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HPO |
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OMIM:615983 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
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BLTP1 |
bridge-like lipid transfer protein family member 1 |
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IAGP |
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HPO |
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OMIM:617822 |
NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167
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BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
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IAGP |
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HPO |
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OMIM:257300 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
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C2CD3 |
C2 domain containing 3 centriole elongation regulator |
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IAGP |
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HPO |
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OMIM:615948 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
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CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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IAGP |
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HPO |
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OMIM:617798 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CCDC141 |
coiled-coil domain containing 141 |
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IAGP |
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HPO |
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OMIM:146110 ORPHA:478 |
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
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CCDC28B |
coiled-coil domain containing 28B |
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IAGP |
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HPO |
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OMIM:209900 |
NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
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CDC42BPB |
CDC42 binding protein kinase beta |
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IAGP |
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HPO |
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OMIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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CDC45 |
cell division cycle 45 |
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IAGP |
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HPO |
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OMIM:617063 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
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CDC6 |
cell division cycle 6 |
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IAGP |
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HPO |
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OMIM:613805 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
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CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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CDH2 |
cadherin 2 |
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IAGP |
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HPO |
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OMIM:618929 |
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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CDKN1C |
cyclin dependent kinase inhibitor 1C |
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IAGP |
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HPO |
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OMIM:614732 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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G |
CENPT |
centromere protein T |
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IAGP |
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HPO |
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OMIM:618702 |
NCBI chr16:67,828,157...67,847,693
Ensembl chr16:67,828,157...67,847,811
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CEP41 |
centrosomal protein 41 |
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IAGP |
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HPO |
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OMIM:614464 |
NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
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G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
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IAGP |
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HPO |
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OMIM:617159 |
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
|
HPO |
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OMIM:214800 ORPHA:138 ORPHA:432 ORPHA:478 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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COG5 |
component of oligomeric golgi complex 5 |
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IAGP |
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HPO |
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ORPHA:263487 |
NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261
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G |
COLEC10 |
collectin subfamily member 10 |
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IAGP |
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HPO |
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OMIM:248340 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
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G |
COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
|
OMIM:309801 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CPE |
carboxypeptidase E |
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IAGP |
|
HPO |
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OMIM:619326 |
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
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G |
CTU2 |
cytosolic thiouridylase subunit 2 |
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IAGP |
|
HPO |
|
OMIM:618142 |
NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
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G |
CUL4B |
cullin 4B |
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IAGP |
|
HPO |
|
OMIM:300354 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
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G |
CYB5A |
cytochrome b5 type A |
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IAGP |
|
HPO |
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OMIM:250790 ORPHA:90796 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
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G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
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IAGP |
|
HPO |
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ORPHA:90793 ORPHA:90796 |
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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G |
DCAF17 |
DDB1 and CUL4 associated factor 17 |
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IAGP |
|
HPO |
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OMIM:241080 ORPHA:3464 |
NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052
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G |
DCC |
DCC netrin 1 receptor |
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IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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G |
DCX |
doublecortin |
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IAGP |
|
HPO |
|
OMIM:300067 |
NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429
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G |
DDX6 |
DEAD-box helicase 6 |
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IAGP |
|
HPO |
|
OMIM:618653 |
NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
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G |
DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
|
HPO |
|
OMIM:270400 |
NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
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G |
DHDDS |
dehydrodolichyl diphosphate synthase subunit |
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IAGP |
|
HPO |
|
OMIM:613861 |
NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
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G |
DHODH |
dihydroorotate dehydrogenase (quinone) |
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IAGP |
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HPO |
|
OMIM:263750 |
NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
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DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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DMRT3 |
doublesex and mab-3 related transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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DPYSL5 |
dihydropyrimidinase like 5 |
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IAGP |
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HPO |
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OMIM:619435 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
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DTYMK |
deoxythymidylate kinase |
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IAGP |
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HPO |
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OMIM:619847 |
NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944
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DUSP6 |
dual specificity phosphatase 6 |
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IAGP |
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HPO |
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OMIM:146110 ORPHA:432 ORPHA:478 |
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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OMIM:180700 OMIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
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HPO |
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OMIM:616894 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
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HPO |
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OMIM:613091 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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ORPHA:268261 ORPHA:464311 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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EBF3 |
EBF transcription factor 3 |
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IAGP |
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HPO |
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OMIM:617330 |
NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
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ECE1 |
endothelin converting enzyme 1 |
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IAGP |
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HPO |
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OMIM:613870 |
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
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EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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IAGP |
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HPO |
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OMIM:610253 |
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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EIF2S3 |
eukaryotic translation initiation factor 2 subunit gamma |
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IAGP |
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HPO |
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OMIM:300148 ORPHA:85282 |
NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810
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ELN |
elastin |
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IAGP |
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HPO |
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OMIM:194050 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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OMIM:610756 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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OMIM:133540 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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OMIM:216400 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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EXT2 |
exostosin glycosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:52022 |
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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FAM111A |
FAM111 trypsin like peptidase A |
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IAGP |
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HPO |
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OMIM:602361 |
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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FANCB |
FA complementation group B |
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IAGP |
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HPO |
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OMIM:300514 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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OMIM:227646 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FANCL |
FA complementation group L |
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IAGP |
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HPO |
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OMIM:614083 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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FAT4 |
FAT atypical cadherin 4 |
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IAGP |
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HPO |
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OMIM:615546 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FEZF1 |
FEZ family zinc finger 1 |
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IAGP |
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HPO |
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OMIM:146110 OMIM:616030 ORPHA:478 |
NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
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FGF17 |
fibroblast growth factor 17 |
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IAGP |
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HPO |
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OMIM:146110 ORPHA:432 ORPHA:478 |
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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OMIM:612702 ORPHA:432 ORPHA:478 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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OMIM:147950 OMIM:615465 ORPHA:432 ORPHA:478 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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OMIM:216340 ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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FLRT3 |
fibronectin leucine rich transmembrane protein 3 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
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FRAS1 |
Fraser extracellular matrix complex subunit 1 |
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IAGP |
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HPO |
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OMIM:219000 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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OMIM:164745 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GH1 |
growth hormone 1 |
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IAGP |
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HPO |
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OMIM:612781 |
NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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OMIM:610829 OMIM:615849 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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OMIM:146510 ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GLYCTK |
glycerate kinase |
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IAGP |
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HPO |
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OMIM:220120 |
NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257
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GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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OMIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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GNRH1 |
gonadotropin releasing hormone 1 |
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IAGP |
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HPO |
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OMIM:146110 OMIM:614841 ORPHA:432 |
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
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GNRHR |
gonadotropin releasing hormone receptor |
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IAGP |
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HPO |
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OMIM:146110 ORPHA:432 |
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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GRIA3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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IAGP |
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HPO |
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ORPHA:364028 |
NCBI chr X:123,184,278...123,490,915
Ensembl chr X:123,184,153...123,490,915
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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:1934 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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H4C9 |
H4 clustered histone 9 |
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IAGP |
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HPO |
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OMIM:619951 |
NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678
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HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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OMIM:309801 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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HDAC8 |
histone deacetylase 8 |
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IAGP |
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HPO |
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OMIM:300882 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
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IAGP |
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HPO |
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ORPHA:457359 |
NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
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HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
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IAGP |
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HPO |
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OMIM:176270 |
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HID1 |
HID1 domain containing |
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IAGP |
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HPO |
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OMIM:619983 |
NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166
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HNRNPR |
heterogeneous nuclear ribonucleoprotein R |
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IAGP |
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HPO |
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OMIM:620073 |
NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336
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HOXA13 |
homeobox A13 |
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IAGP |
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HPO |
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OMIM:140000 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
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IAGP |
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HPO |
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OMIM:614880 ORPHA:432 ORPHA:478 |
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
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HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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IAGP |
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HPO |
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OMIM:201810 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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IAGP |
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HPO |
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OMIM:309590 |
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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OMIM:619471 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IL17RD |
interleukin 17 receptor D |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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INPP5E |
inositol polyphosphate-5-phosphatase E |
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IAGP |
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HPO |
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OMIM:610156 ORPHA:75858 |
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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INTU |
inturned planar cell polarity protein |
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IAGP |
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HPO |
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OMIM:617925 OMIM:617926 |
NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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IPW |
imprinted in Prader-Willi syndrome |
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IAGP |
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HPO |
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OMIM:176270 |
NCBI chr15:25,116,545...25,122,476
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KAT6B |
lysine acetyltransferase 6B |
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IAGP |
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HPO |
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OMIM:606170 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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KATNIP |
katanin interacting protein |
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IAGP |
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HPO |
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OMIM:616784 |
NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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KDM5C |
lysine demethylase 5C |
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IAGP |
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HPO |
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OMIM:300534 |
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422
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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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OMIM:147920 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KIAA0586 |
KIAA0586 |
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IAGP |
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HPO |
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OMIM:616546 |
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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OMIM:619479 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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KIF7 |
kinesin family member 7 |
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IAGP |
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HPO |
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OMIM:200990 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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KISS1 |
KiSS-1 metastasis suppressor |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
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G |
KISS1R |
KISS1 receptor |
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IAGP |
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HPO |
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OMIM:614837 ORPHA:432 |
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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G |
KLF1 |
KLF transcription factor 1 |
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IAGP |
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HPO |
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OMIM:613673 |
NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
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G |
KLHL15 |
kelch like family member 15 |
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IAGP |
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HPO |
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OMIM:300982 |
NCBI chr X:23,983,720...24,027,186
Ensembl chr X:23,983,716...24,027,186
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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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G |
KLHL41 |
kelch like family member 41 |
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IAGP |
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HPO |
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ORPHA:171430 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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OMIM:147920 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
LAMA5 |
laminin subunit alpha 5 |
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IAGP |
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HPO |
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OMIM:620076 |
NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312
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G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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G |
LEP |
leptin |
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IAGP |
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HPO |
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OMIM:614962 |
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LHB |
luteinizing hormone subunit beta |
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IAGP |
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HPO |
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OMIM:228300 |
NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091
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G |
LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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OMIM:606593 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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G |
LMNB2 |
lamin B2 |
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IAGP |
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HPO |
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OMIM:619180 |
NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
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G |
LMOD3 |
leiomodin 3 |
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IAGP |
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HPO |
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ORPHA:171430 |
NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032
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G |
LMX1B |
LIM homeobox transcription factor 1 beta |
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IAGP |
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HPO |
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ORPHA:495818 |
NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
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G |
LSM11 |
LSM11, U7 small nuclear RNA associated |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
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LSS |
lanosterol synthase |
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IAGP |
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HPO |
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OMIM:618840 |
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
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LZTFL1 |
leucine zipper transcription factor like 1 |
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IAGP |
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HPO |
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OMIM:615994 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
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MADD |
MAP kinase activating death domain |
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IAGP |
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HPO |
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OMIM:619004 OMIM:619005 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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OMIM:176270 OMIM:615547 ORPHA:398069 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAMLD1 |
mastermind like domain containing 1 |
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IAGP |
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HPO |
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ORPHA:456328 ORPHA:95706 |
NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178
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MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
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HPO |
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OMIM:156200 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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MCTP2 |
multiple C2 and transmembrane domain containing 2 |
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IAGP |
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HPO |
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ORPHA:1596 |
NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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OMIM:300895 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MEGF8 |
multiple EGF like domains 8 |
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IAGP |
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HPO |
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OMIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
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MID1 |
midline 1 |
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IAGP |
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HPO |
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OMIM:300000 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
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IAGP |
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HPO |
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ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
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MKRN3 |
makorin ring finger protein 3 |
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IAGP |
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HPO |
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OMIM:176270 |
NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
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MKRN3-AS1 |
MKRN3 antisense RNA 1 |
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IAGP |
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HPO |
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OMIM:176270 |
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MLXIPL |
MLX interacting protein like |
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IAGP |
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HPO |
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OMIM:194050 |
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MTM1 |
myotubularin 1 |
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IAGP |
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HPO |
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ORPHA:456328 |
NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143
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MYRF |
myelin regulatory factor |
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IAGP |
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HPO |
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OMIM:618280 |
NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
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NDNF |
neuron derived neurotrophic factor |
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IAGP |
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HPO |
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OMIM:618841 ORPHA:478 |
NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
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NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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OMIM:309801 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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NEB |
nebulin |
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IAGP |
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HPO |
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ORPHA:171430 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
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NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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OMIM:263520 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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NHLH2 |
nescient helix-loop-helix 2 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
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NPAP1 |
nuclear pore associated protein 1 |
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IAGP |
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HPO |
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OMIM:176270 |
NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
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NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr X:30,304,206...30,309,390
Ensembl chr X:30,304,206...30,309,390
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NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
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IAGP |
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HPO |
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OMIM:617480 ORPHA:251510 |
NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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NSMF |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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IAGP |
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HPO |
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OMIM:614838 ORPHA:432 |
NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
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OPHN1 |
oligophrenin 1 |
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IAGP |
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HPO |
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OMIM:300486 |
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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ORC1 |
origin recognition complex subunit 1 |
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IAGP |
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HPO |
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OMIM:224690 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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ORC6 |
origin recognition complex subunit 6 |
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IAGP |
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HPO |
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OMIM:613803 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
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OTUD5 |
OTU deubiquitinase 5 |
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IAGP |
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HPO |
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OMIM:301056 |
NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386
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OTX2 |
orthodenticle homeobox 2 |
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IAGP |
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HPO |
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OMIM:610125 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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PBX1 |
PBX homeobox 1 |
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IAGP |
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HPO |
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OMIM:617641 |
NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
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PHF21A |
PHD finger protein 21A |
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IAGP |
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HPO |
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ORPHA:52022 |
NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454
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PHF6 |
PHD finger protein 6 |
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IAGP |
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HPO |
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OMIM:301900 |
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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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:248700 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
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IAGP |
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HPO |
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OMIM:300868 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
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G |
PNKP |
polynucleotide kinase 3'-phosphatase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP |
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HPO |
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OMIM:245800 ORPHA:3363 |
NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
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HPO |
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OMIM:618336 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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G |
POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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G |
POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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OMIM:613156 ORPHA:370968 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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OMIM:201750 ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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PPP1R12A |
protein phosphatase 1 regulatory subunit 12A |
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IAGP |
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HPO |
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OMIM:618820 |
NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
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PRDM13 |
PR/SET domain 13 |
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IAGP |
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HPO |
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OMIM:619761 |
NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578
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PRKDC |
protein kinase, DNA-activated, catalytic subunit |
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IAGP |
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HPO |
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OMIM:615966 |
NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
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PROK2 |
prokineticin 2 |
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IAGP |
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HPO |
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OMIM:610628 ORPHA:432 ORPHA:478 |
NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
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PROKR2 |
prokineticin receptor 2 |
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IAGP |
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HPO |
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OMIM:244200 ORPHA:432 ORPHA:478 |
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PSMC1 |
proteasome 26S subunit, ATPase 1 |
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IAGP |
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HPO |
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OMIM:620071 |
NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429
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G |
PSMD12 |
proteasome 26S subunit, non-ATPase 12 |
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IAGP |
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HPO |
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OMIM:617516 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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OMIM:151100 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PWAR1 |
Prader Willi/Angelman region RNA 1 |
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IAGP |
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HPO |
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OMIM:176270 |
NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
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G |
PWRN1 |
Prader-Willi region non-protein coding RNA 1 |
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IAGP |
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HPO |
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OMIM:176270 |
NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
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RAB18 |
RAB18, member RAS oncogene family |
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IAGP |
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HPO |
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OMIM:614222 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207
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G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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OMIM:212720 OMIM:614225 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RIPK4 |
receptor interacting serine/threonine kinase 4 |
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IAGP |
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HPO |
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OMIM:263650 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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RLIM |
ring finger protein, LIM domain interacting |
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IAGP |
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HPO |
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OMIM:300978 |
NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624
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RNASEH2A |
ribonuclease H2 subunit A |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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RNASEH2B |
ribonuclease H2 subunit B |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
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RNASEH2C |
ribonuclease H2 subunit C |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
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RNF113A |
ring finger protein 113A |
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IAGP |
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HPO |
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OMIM:300953 |
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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OMIM:210710 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
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HPO |
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OMIM:619487 ORPHA:51 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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OMIM:113000 OMIM:268310 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RSPO2 |
R-spondin 2 |
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IAGP |
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HPO |
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OMIM:618021 |
NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
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RYR1 |
ryanodine receptor 1 |
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IAGP |
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HPO |
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ORPHA:98905 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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G |
SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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ORPHA:251028 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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G |
SCN1B |
sodium voltage-gated channel beta subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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G |
SEMA3A |
semaphorin 3A |
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IAGP |
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HPO |
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OMIM:614897 ORPHA:478 |
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
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G |
SEMA3E |
semaphorin 3E |
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IAGP |
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HPO |
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OMIM:146110 ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
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SETBP1 |
SET binding protein 1 |
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IAGP |
|
HPO |
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OMIM:269150 ORPHA:798 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SGPL1 |
sphingosine-1-phosphate lyase 1 |
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IAGP |
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HPO |
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OMIM:617575 |
NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816
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SIK1 |
salt inducible kinase 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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G |
SIM1 |
SIM bHLH transcription factor 1 |
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IAGP |
|
HPO |
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ORPHA:398079 |
NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921
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SIX6 |
SIX homeobox 6 |
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IAGP |
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HPO |
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OMIM:206900 |
NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
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G |
SLC25A22 |
solute carrier family 25 member 22 |
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IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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G |
SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
|
HPO |
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OMIM:612289 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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G |
SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
|
OMIM:602782 ORPHA:168569 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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G |
SLC30A7 |
solute carrier family 30 member 7 |
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IAGP |
|
HPO |
|
OMIM:620501 |
NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,981,757
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G |
SLC32A1 |
solute carrier family 32 member 1 |
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IAGP |
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HPO |
|
ORPHA:1934 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
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G |
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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IAGP |
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HPO |
|
OMIM:603457 |
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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G |
SMO |
smoothened, frizzled class receptor |
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IAGP |
|
HPO |
|
OMIM:241800 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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G |
SNORD115-1 |
small nucleolar RNA, C/D box 115-1 |
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IAGP |
|
HPO |
|
OMIM:176270 |
NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
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G |
SNORD116-1 |
small nucleolar RNA, C/D box 116-1 |
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IAGP |
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HPO |
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OMIM:176270 |
NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
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SOX10 |
SRY-box transcription factor 10 |
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IAGP |
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HPO |
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ORPHA:478 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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SOX2 |
SRY-box transcription factor 2 |
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IAGP |
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HPO |
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OMIM:206900 |
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SPRY4 |
sprouty RTK signaling antagonist 4 |
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IAGP |
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HPO |
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OMIM:146110 ORPHA:432 ORPHA:478 |
NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
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SPTBN1 |
spectrin beta, non-erythrocytic 1 |
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IAGP |
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HPO |
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OMIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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SRA1 |
steroid receptor RNA activator 1 |
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IAGP |
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HPO |
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OMIM:146110 |
NCBI chr 5:140,550,067...140,558,093
Ensembl chr 5:140,537,340...140,557,677
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SRD5A2 |
steroid 5 alpha-reductase 2 |
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IAGP |
ClinVar Annotator: match by term: Micropenis |
ClinVar HPO |
PMID:10898110 PMID:12843198 PMID:14594182 PMID:15064320 PMID:19342739 PMID:20736251 PMID:22453073 PMID:25605705 PMID:25741868 PMID:25899528 PMID:28492532 PMID:32713132 More...
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OMIM:264600 |
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
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SRRM2 |
serine/arginine repetitive matrix 2 |
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IAGP |
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HPO |
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OMIM:620439 |
NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538
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SRY |
sex determining region Y |
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IAGP |
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HPO |
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ORPHA:1772 ORPHA:251510 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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STT3A |
STT3 oligosaccharyltransferase complex catalytic subunit A |
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IAGP |
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HPO |
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ORPHA:370921 |
NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215
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STT3B |
STT3 oligosaccharyltransferase complex catalytic subunit B |
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IAGP |
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HPO |
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OMIM:615597 ORPHA:370924 |
NCBI chr 3:31,532,925...31,637,616
Ensembl chr 3:31,532,638...31,637,616
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STXBP1 |
syntaxin binding protein 1 |
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IAGP |
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HPO |
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ORPHA:495818 |
NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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TAC3 |
tachykinin precursor 3 |
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IAGP |
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HPO |
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ORPHA:432 |
NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
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TACR3 |
tachykinin receptor 3 |
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IAGP |
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HPO |
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OMIM:614840 ORPHA:432 ORPHA:478 |
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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TAPT1 |
transmembrane anterior posterior transformation 1 |
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IAGP |
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HPO |
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OMIM:616897 |
NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410
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TBC1D20 |
TBC1 domain family member 20 |
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IAGP |
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HPO |
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OMIM:615663 |
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
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TBCE |
tubulin folding cofactor E |
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IAGP |
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HPO |
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OMIM:241410 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBL1XR1 |
TBL1X/Y related 1 |
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IAGP |
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HPO |
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OMIM:602342 |
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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OMIM:181450 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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TCF12 |
transcription factor 12 |
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IAGP |
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HPO |
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OMIM:619718 |
NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
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TCF4 |
transcription factor 4 |
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IAGP |
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HPO |
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OMIM:610954 ORPHA:2896 |
NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
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THOC2 |
THO complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:457240 |
NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056
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THOC6 |
THO complex subunit 6 |
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IAGP |
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HPO |
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ORPHA:363444 |
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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TOE1 |
target of EGR1, exonuclease |
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IAGP |
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HPO |
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OMIM:614969 ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
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TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
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IAGP |
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HPO |
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OMIM:619185 |
NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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OMIM:106260 OMIM:604292 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TRIM8 |
tripartite motif containing 8 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318
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TRPM3 |
transient receptor potential cation channel subfamily M member 3 |
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IAGP |
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HPO |
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OMIM:620224 |
NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977
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TWIST2 |
twist family bHLH transcription factor 2 |
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IAGP |
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HPO |
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OMIM:200110 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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UBA1 |
ubiquitin like modifier activating enzyme 1 |
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IAGP |
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HPO |
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OMIM:301830 |
NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128
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UBE2A |
ubiquitin conjugating enzyme E2 A |
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IAGP |
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HPO |
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OMIM:300860 ORPHA:163956 |
NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083
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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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OMIM:243800 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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UBR7 |
ubiquitin protein ligase E3 component n-recognin 7 |
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IAGP |
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HPO |
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OMIM:619189 |
NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215
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USP7 |
ubiquitin specific peptidase 7 |
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IAGP |
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HPO |
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OMIM:616863 ORPHA:500055 |
NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328
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VAC14 |
VAC14 component of PIKFYVE complex |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
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VAMP7 |
vesicle associated membrane protein 7 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
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WDR11 |
WD repeat domain 11 |
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IAGP |
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HPO |
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OMIM:146110 ORPHA:432 ORPHA:478 |
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
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WNT5A |
Wnt family member 5A |
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IAGP |
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HPO |
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OMIM:180700 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XRCC4 |
X-ray repair cross complementing 4 |
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IAGP |
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HPO |
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OMIM:616541 |
NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
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ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZFPM2 |
zinc finger protein, FOG family member 2 |
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IAGP |
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HPO |
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ORPHA:251510 |
NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539
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ZPR1 |
ZPR1 zinc finger |
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IAGP |
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HPO |
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OMIM:619321 |
NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039
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AR |
androgen receptor |
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IAGP |
DNA:repeats:exon |
RGD |
PMID:23386417 |
RGD:11576230 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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CDKN1C |
cyclin dependent kinase inhibitor 1C |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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CILK1 |
ciliogenesis associated kinase 1 |
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IAGP |
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HPO |
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OMIM:612651 |
NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
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FANCF |
FA complementation group F |
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IAGP |
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HPO |
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OMIM:603467 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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OMIM:615542 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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HMGA2 |
high mobility group AT-hook 2 |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
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HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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IAGP |
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HPO |
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OMIM:201810 |
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
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IAGP |
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HPO |
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ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
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OPHN1 |
oligophrenin 1 |
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IAGP |
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HPO |
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OMIM:300486 |
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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PLAG1 |
PLAG1 zinc finger |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
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RTTN |
rotatin |
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IAGP |
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HPO |
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ORPHA:468631 |
NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
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SAMD9 |
sterile alpha motif domain containing 9 |
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IAGP |
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HPO |
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OMIM:617053 |
NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
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SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
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OMIM:613406 ORPHA:94065 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Microphallus |
ClinVar |
PMID:25741868 PMID:28067909 |
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NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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TACR3 |
tachykinin receptor 3 |
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IAGP |
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HPO |
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OMIM:614840 |
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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THOC2 |
THO complex subunit 2 |
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IAGP |
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HPO |
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OMIM:300957 |
NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056
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TOE1 |
target of EGR1, exonuclease |
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IAGP |
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HPO |
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ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
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TRRAP |
transformation/transcription domain associated protein |
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IAGP |
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HPO |
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OMIM:618454 |
NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
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Term paths to the root
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