Term: | Aplasia/Hypoplasia of toe |
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Accession: | HP:0001991
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browse the term
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Definition: | Absence or hypoplasia of toes. |
Synonyms: | exact_synonym: | Absent/small toe; Absent/underdeveloped toe; Aplastic/hypoplastic toe phalanges |
| related_synonym: | ABSENT/HYPOPLASTIC TOES |
| xref: | UMLS:C3551148 |
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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MIM:186000 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
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IAGP |
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HPO |
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MIM:618658 |
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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MIM:216340 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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ORPHA:93322 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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MIM:615297 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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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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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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DOCK6 |
dedicator of cytokinesis 6 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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MIM:620663 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:228900 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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LMBR1 |
limb development membrane protein 1 |
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IAGP |
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HPO |
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MIM:200500 |
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
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IAGP |
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HPO |
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MIM:308050 |
NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729
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RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
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IAGP |
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HPO |
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MIM:614814 ORPHA:974 |
NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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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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NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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MIM:615297 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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TBX5 |
T-box transcription factor 5 |
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IAGP |
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HPO |
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MIM:142900 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
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IAGP |
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HPO |
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MIM:618658 |
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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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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EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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MIM:615297 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:2229 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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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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SALL1 |
spalt like transcription factor 1 |
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IAGP |
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HPO |
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MIM:107480 ORPHA:857 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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MIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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GPC4 |
glypican 4 |
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IAGP |
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HPO |
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ORPHA:2662 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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NOG |
noggin |
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IAGP |
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HPO |
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MIM:611377 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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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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ORPHA:1234 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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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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MIM:113000 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
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IAGP |
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HPO |
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ORPHA:488232 |
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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ORPHA:93387 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
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IAGP |
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HPO |
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ORPHA:488232 |
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
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PTHLH |
parathyroid hormone like hormone |
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IAGP |
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HPO |
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ORPHA:93387 |
NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
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BHLHA9 |
basic helix-loop-helix family member a9 |
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IAGP |
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HPO |
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MIM:609432 ORPHA:157801 |
NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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MIM:216340 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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ACVR1 |
activin A receptor type 1 |
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IAGP |
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HPO |
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ORPHA:337 |
NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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MIM:616589 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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DLX5 |
distal-less homeobox 5 |
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IAGP |
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HPO |
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MIM:183600 |
NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
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ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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MIM:620662 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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ORPHA:93322 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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LRP4 |
LDL receptor related protein 4 |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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MIM:305600 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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SF3B4 |
splicing factor 3b subunit 4 |
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IAGP |
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HPO |
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MIM:154400 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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SMOC1 |
SPARC related modular calcium binding 1 |
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IAGP |
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HPO |
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MIM:206920 ORPHA:1106 |
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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MIM:225300 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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WNT7A |
Wnt family member 7A |
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IAGP |
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HPO |
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MIM:228930 MIM:276820 ORPHA:2879 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
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NOTCH2 |
notch receptor 2 |
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IAGP |
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HPO |
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ORPHA:955 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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C12orf57 |
chromosome 12 open reading frame 57 |
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IAGP |
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HPO |
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MIM:218340 |
NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
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COX4I1 |
cytochrome c oxidase subunit 4I1 |
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IAGP |
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HPO |
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MIM:619060 |
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
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HOXA13 |
homeobox A13 |
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IAGP |
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HPO |
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MIM:140000 MIM:176305 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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MIM:311200 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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COX4I1 |
cytochrome c oxidase subunit 4I1 |
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IAGP |
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HPO |
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MIM:619060 |
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
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SVBP |
small vasohibin binding protein |
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IAGP |
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HPO |
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MIM:618569 |
NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
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WASF1 |
WASP family member 1 |
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IAGP |
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HPO |
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MIM:618707 |
NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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MIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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COX4I1 |
cytochrome c oxidase subunit 4I1 |
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IAGP |
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HPO |
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MIM:619060 |
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
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ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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MIM:620662 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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SVBP |
small vasohibin binding protein |
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IAGP |
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HPO |
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MIM:618569 |
NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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MIM:181450 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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WASF1 |
WASP family member 1 |
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IAGP |
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HPO |
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MIM:618707 |
NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
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COX4I1 |
cytochrome c oxidase subunit 4I1 |
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IAGP |
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HPO |
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MIM:619060 |
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
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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 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:613684 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
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IAGP |
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HPO |
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MIM:614814 |
NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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MIM:181450 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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MIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
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IAGP |
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HPO |
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MIM:135500 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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NOG |
noggin |
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IAGP |
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HPO |
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ORPHA:140908 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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PIGF |
phosphatidylinositol glycan anchor biosynthesis class F |
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IAGP |
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HPO |
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MIM:619356 |
NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:606835 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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MIM:239850 ORPHA:1517 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ACVR1 |
activin A receptor type 1 |
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IAGP |
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HPO |
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MIM:135100 ORPHA:337 |
NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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BHLHA9 |
basic helix-loop-helix family member a9 |
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IAGP |
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HPO |
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ORPHA:157801 |
NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
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BMP2 |
bone morphogenetic protein 2 |
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IAGP |
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HPO |
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MIM:112600 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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MIM:112600 ORPHA:93388 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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CHST11 |
carbohydrate sulfotransferase 11 |
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IAGP |
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HPO |
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MIM:618167 |
NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014
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CHSY1 |
chondroitin sulfate synthase 1 |
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IAGP |
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HPO |
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ORPHA:363417 |
NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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EIF4A3 |
eukaryotic translation initiation factor 4A3 |
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IAGP |
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HPO |
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MIM:268305 |
NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
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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:93258 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:93258 ORPHA:93259 ORPHA:93260 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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G |
FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:304120 MIM:311300 ORPHA:90650 ORPHA:90652 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:112600 ORPHA:93388 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GPC4 |
glypican 4 |
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IAGP |
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HPO |
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ORPHA:2662 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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G |
HOXA13 |
homeobox A13 |
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IAGP |
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HPO |
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MIM:140000 ORPHA:2438 |
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
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G |
IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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ORPHA:93388 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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G |
KAT6A |
lysine acetyltransferase 6A |
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IAGP |
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HPO |
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MIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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G |
KCNJ8 |
potassium inwardly rectifying channel subfamily J member 8 |
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IAGP |
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HPO |
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ORPHA:1517 |
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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G |
NOG |
noggin |
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IAGP |
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HPO |
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MIM:186500 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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G |
PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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G |
PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
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HPO |
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ORPHA:508488 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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G |
ROBO1 |
roundabout guidance receptor 1 |
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IAGP |
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HPO |
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MIM:620305 |
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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G |
SALL4 |
spalt like transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:959 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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G |
SF3B4 |
splicing factor 3b subunit 4 |
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IAGP |
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HPO |
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MIM:154400 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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G |
TPR |
translocated promoter region, nuclear basket protein |
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IAGP |
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HPO |
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MIM:620393 |
NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693
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G |
NOG |
noggin |
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IAGP |
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HPO |
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MIM:186500 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:101600 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:101600 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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MIM:602849 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:606835 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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IAGP |
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HPO |
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MIM:614609 |
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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G |
ERF |
ETS2 repressor factor |
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IAGP |
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HPO |
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MIM:617180 |
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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G |
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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G |
ADA |
adenosine deaminase |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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G |
ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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MIM:225410 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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G |
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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G |
ALOX12B |
arachidonate 12-lipoxygenase, 12R type |
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IAGP |
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HPO |
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MIM:242100 |
NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
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G |
ALOXE3 |
arachidonate epidermal lipoxygenase 3 |
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IAGP |
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HPO |
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MIM:242100 |
NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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G |
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
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IAGP |
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HPO |
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ORPHA:333 |
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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G |
ASCC3 |
activating signal cointegrator 1 complex subunit 3 |
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IAGP |
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HPO |
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MIM:620700 |
NCBI chr 6:100,508,194...100,881,329
Ensembl chr 6:100,508,194...100,881,372
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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MIM:605039 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:261540 ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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G |
BMP2 |
bone morphogenetic protein 2 |
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IAGP |
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HPO |
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MIM:617877 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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G |
BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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MIM:609441 ORPHA:2098 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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G |
BPNT2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
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IAGP |
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HPO |
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MIM:614078 |
NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867
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G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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G |
COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:271700 MIM:609162 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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G |
CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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MIM:615502 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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G |
DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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G |
DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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MIM:270400 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
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IAGP |
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HPO |
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ORPHA:404443 |
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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G |
DPYD |
dihydropyrimidine dehydrogenase |
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IAGP |
ClinVar Annotator: match by term: Short toe |
ClinVar |
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
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NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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ORPHA:464311 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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G |
EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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MIM:615297 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:429 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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MIM: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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G |
FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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IAGP |
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HPO |
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ORPHA:2308 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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G |
FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:300244 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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ORPHA:2098 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
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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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:93404 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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MIM:103580 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
ClinVar Annotator: match by term: Short toe |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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G |
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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G |
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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G |
GPX4 |
glutathione peroxidase 4 |
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IAGP |
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HPO |
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MIM:250220 |
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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G |
GRIP1 |
glutamate receptor interacting protein 1 |
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IAGP |
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HPO |
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MIM:617667 |
NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
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G |
HBA1 |
hemoglobin subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:98791 |
NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
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G |
HBA2 |
hemoglobin subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:98791 |
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
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G |
HDAC4 |
histone deacetylase 4 |
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IAGP |
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HPO |
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MIM:600430 |
NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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G |
HEATR3 |
HEAT repeat containing 3 |
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IAGP |
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HPO |
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MIM:620072 |
NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
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G |
IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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MIM:218330 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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MIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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G |
IL7R |
interleukin 7 receptor |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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G |
KMT2A |
lysine methyltransferase 2A |
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IAGP |
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HPO |
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MIM:605130 |
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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G |
LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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G |
MIA3 |
MIA SH3 domain ER export factor 3 |
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IAGP |
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HPO |
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MIM:619269 |
NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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MIM:164280 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
NOG |
noggin |
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IAGP |
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HPO |
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ORPHA:140908 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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G |
NOTCH2 |
notch receptor 2 |
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IAGP |
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HPO |
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ORPHA:955 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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G |
NPR2 |
natriuretic peptide receptor 2 |
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IAGP |
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HPO |
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MIM:602875 |
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:2750 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:439822 ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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G |
PHF6 |
PHD finger protein 6 |
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IAGP |
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HPO |
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MIM:301900 ORPHA:127 |
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
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IAGP |
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HPO |
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MIM:239300 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
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HPO |
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MIM:619636 |
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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ORPHA:79106 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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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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MIM:212720 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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MIM:607095 ORPHA:39041 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:616651 ORPHA:353298 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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SF3B4 |
splicing factor 3b subunit 4 |
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IAGP |
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HPO |
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MIM:154400 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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SHOX |
SHOX homeobox |
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IAGP |
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HPO |
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MIM:127300 |
NCBI chr Y:624,344...659,411 NCBI chr X:624,344...659,411
Ensembl chr Y:624,344...659,411 Ensembl chr X:624,344...659,411
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:93307 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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MIM:139210 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
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IAGP |
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HPO |
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ORPHA:1519 |
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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TBL1XR1 |
TBL1X/Y related 1 |
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IAGP |
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HPO |
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MIM:602342 ORPHA:487825 |
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
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TBX22 |
T-box transcription factor 22 |
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IAGP |
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HPO |
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ORPHA:921 |
NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774
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TGDS |
TDP-glucose 4,6-dehydratase |
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IAGP |
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HPO |
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MIM:616145 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
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TNNT3 |
troponin T3, fast skeletal type |
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IAGP |
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HPO |
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MIM:618435 |
NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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ORPHA:93314 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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UBAP2L |
ubiquitin associated protein 2 like |
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IAGP |
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HPO |
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MIM:620494 |
NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510
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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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ZMIZ1 |
zinc finger MIZ-type containing 1 |
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IAGP |
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HPO |
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MIM:618659 |
NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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ORPHA:85169 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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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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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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ORPHA:85169 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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MIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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Term paths to the root
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