Term: | Aplasia/Hypoplasia of the phalanges of the hand |
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Accession: | HP:0009767
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browse the term
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Definition: | Small or missing phalangeal bones of the fingers of the hand. |
Synonyms: | exact_synonym: | Aplastic/hypoplastic phalanges; Aplastic/hypoplastic phalanges of the hand; Hypoplastic/absent phalanges |
| alt_id: | HP:0006056; HP:0006100; HP:0009801 |
| xref: | UMLS:C1848670 |
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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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MIM:219000 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
DNA:deletion:exon:c.1396-1398delAA, (human) |
RGD |
PMID:24954533 |
RGD:11535953 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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MIM:605289 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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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 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
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CHUK |
component of inhibitor of nuclear factor kappa B kinase complex |
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IAGP |
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HPO |
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MIM:619339 |
NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
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DOCK6 |
dedicator of cytokinesis 6 |
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IAGP |
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HPO |
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MIM:614219 |
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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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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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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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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SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
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HPO |
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MIM:612289 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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MIM:610168 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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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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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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NSDHL |
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL |
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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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NSDHL |
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL |
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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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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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MIM:124480 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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MIM:186100 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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MIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:149730 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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MIM:218600 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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MIM:227646 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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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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LMBR1 |
limb development membrane protein 1 |
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IAGP |
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HPO |
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ORPHA:93321 |
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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SHH |
sonic hedgehog signaling molecule |
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IAGP |
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HPO |
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ORPHA:93321 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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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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TRIO |
trio Rho guanine nucleotide exchange factor |
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IAGP |
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HPO |
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ORPHA:476126 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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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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XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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MIM:617247 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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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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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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NSDHL |
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL |
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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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NSDHL |
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL |
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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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LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:610140 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MEGF8 |
multiple EGF like domains 8 |
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IAGP |
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HPO |
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MIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
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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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BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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MIM:609441 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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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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ORPHA:93384 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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ORPHA:93384 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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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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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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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human) |
HPO RGD |
PMID:23238279 |
MIM:113000, RGD:11537345 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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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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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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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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IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:112500 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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NOG |
noggin |
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IAGP |
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HPO |
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MIM:185800 MIM:611377 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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MIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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RAB23 |
RAB23, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:201000 |
NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
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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 |
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 ORPHA:93396 |
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 MIM:616849 ORPHA:93396 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:112600 ORPHA:93396 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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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 |
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 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:112600 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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CNOT1 |
CCR4-NOT transcription complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:556955 |
NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
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TRIO |
trio Rho guanine nucleotide exchange factor |
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IAGP |
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HPO |
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ORPHA:476126 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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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 |
NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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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:609441 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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MIM:620568 ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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CANT1 |
calcium activated nucleotidase 1 |
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IAGP |
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HPO |
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MIM:251450 |
NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
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DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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FANCI |
FA complementation group I |
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IAGP |
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HPO |
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MIM:609053 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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MIM:164745 ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:113100 MIM:615072 ORPHA:63442 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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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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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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LAMA5 |
laminin subunit alpha 5 |
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IAGP |
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HPO |
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MIM:620076 |
NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312
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MEG3 |
maternally expressed 3 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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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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NOG |
noggin |
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IAGP |
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HPO |
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MIM:186570 MIM:611377 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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PCNT |
pericentrin |
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IAGP |
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HPO |
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MIM:210720 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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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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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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RTL1 |
retrotransposon Gag like 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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SALL4 |
spalt like transcription factor 4 |
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IAGP |
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HPO |
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MIM:147750 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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SETBP1 |
SET binding protein 1 |
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IAGP |
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HPO |
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MIM:269150 ORPHA:798 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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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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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 |
associated with Cornelia de Lange syndrome; DNA:missense mutations, deletions:exons: |
HPO RGD |
PMID:25655089 |
ORPHA:199, RGD:155882445 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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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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SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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MIM:136140 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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TAF6 |
TATA-box binding protein associated factor 6 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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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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VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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MIM:619135 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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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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ORPHA:1517 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
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HPO |
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ORPHA:1855 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ACTL6B |
actin like 6B |
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IAGP |
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HPO |
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MIM:618470 |
NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
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G |
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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G |
ARID1A |
AT-rich interaction domain 1A |
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IAGP |
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HPO |
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MIM:614607 |
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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MIM:302950 ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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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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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
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BCR |
BCR activator of RhoGEF and GTPase |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
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G |
CBFB |
core-binding factor subunit beta |
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IAGP |
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HPO |
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MIM:620099 |
NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
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G |
CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
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HPO |
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MIM:300963 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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G |
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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G |
CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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MIM:143095 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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G |
CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:53 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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COG4 |
component of oligomeric golgi complex 4 |
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IAGP |
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HPO |
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MIM:618150 |
NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
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G |
COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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MIM:156500 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:271700 ORPHA:85166 ORPHA:93315 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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MIM:177170 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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G |
CRIPT |
CXXC repeat containing interactor of PDZ3 domain |
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IAGP |
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HPO |
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MIM:615789 |
NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,685,037
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G |
CRKL |
CRK like proto-oncogene, adaptor protein |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
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G |
CWC27 |
CWC27 spliceosome associated cyclophilin |
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IAGP |
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HPO |
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MIM:250410 |
NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412
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G |
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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G |
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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G |
DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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MIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:181 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDA2R |
ectodysplasin A2 receptor |
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IAGP |
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HPO |
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ORPHA:181 |
NCBI chr X:66,595,637...66,639,269
Ensembl chr X:66,595,637...66,639,298
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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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ORPHA:974 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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G |
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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G |
EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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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 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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G |
FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:309350 MIM:311300 ORPHA:1826 ORPHA:2484 ORPHA:90650 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:503 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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G |
FN1 |
fibronectin 1 |
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IAGP |
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HPO |
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ORPHA:93315 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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G |
FTSJ1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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IAGP |
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HPO |
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MIM:309549 |
NCBI chr X:48,476,021...48,486,364
Ensembl chr X:48,476,021...48,486,364
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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:615072 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
GGCX |
gamma-glutamyl carboxylase |
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IAGP |
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HPO |
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MIM:277450 |
NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
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G |
GJA5 |
gap junction protein alpha 5 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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G |
GJA8 |
gap junction protein alpha 8 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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G |
GLI1 |
GLI family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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G |
GPC3 |
glypican 3 |
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IAGP |
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HPO |
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MIM:312870 |
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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MIM:312870 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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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 |
HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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MIM:186300 ORPHA:93387 ORPHA:93406 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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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 ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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G |
IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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MIM:617102 ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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G |
IFT57 |
intraflagellar transport 57 |
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IAGP |
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HPO |
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MIM:617927 |
NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
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G |
IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:112500 MIM:607778 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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G |
JAG1 |
jagged canonical Notch ligand 1 |
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IAGP |
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HPO |
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MIM:118450 |
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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G |
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 MIM:611816 ORPHA:420561 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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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 |
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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G |
KDM5C |
lysine demethylase 5C |
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IAGP |
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HPO |
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MIM:300534 |
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,277...53,225,422
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:248370 ORPHA:90153 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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ORPHA:1826 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
MAPK1 |
mitogen-activated protein kinase 1 |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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G |
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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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 ORPHA:85202 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
MTOR |
mechanistic target of rapamycin kinase |
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IAGP |
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HPO |
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MIM:616638 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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MIM:602535 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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G |
NOG |
noggin |
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IAGP |
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HPO |
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MIM:184460 MIM:611377 ORPHA:140908 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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G |
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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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 |
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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G |
PCNT |
pericentrin |
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IAGP |
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HPO |
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MIM:210720 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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MIM:601812 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PIGB |
phosphatidylinositol glycan anchor biosynthesis class B |
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IAGP |
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HPO |
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MIM:618580 |
NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648
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G |
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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G |
PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
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IAGP |
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HPO |
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MIM:614080 ORPHA:2059 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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G |
PIGS |
phosphatidylinositol glycan anchor biosynthesis class S |
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IAGP |
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HPO |
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MIM:618143 |
NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
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G |
PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
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IAGP |
DNA:missense mutations:CDS:multiple |
HPO RGD |
PMID:20802478 |
MIM:239300, RGD:243048420 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
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G |
POC1A |
POC1 centriolar protein A |
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IAGP |
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HPO |
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MIM:614813 |
NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
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G |
PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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G |
PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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G |
PRMT7 |
protein arginine methyltransferase 7 |
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IAGP |
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HPO |
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MIM:617157 |
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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G |
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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G |
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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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
|
HPO |
|
MIM:268310 ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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G |
RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
|
HPO |
|
ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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G |
SETBP1 |
SET binding protein 1 |
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IAGP |
|
HPO |
|
MIM:269150 ORPHA:798 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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G |
SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
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HPO |
|
MIM:612289 ORPHA:2095 ORPHA:2963 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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G |
SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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IAGP |
|
HPO |
|
MIM:619293 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
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G |
SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
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HPO |
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MIM:616938 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SOX11 |
SRY-box transcription factor 11 |
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IAGP |
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HPO |
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MIM:615866 |
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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STAMBP |
STAM binding protein |
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IAGP |
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HPO |
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MIM:614261 |
NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
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MIM:220500 ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671
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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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TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
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HPO |
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ORPHA:77258 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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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 ORPHA:85169 ORPHA:93314 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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TWIST1 |
twist family bHLH transcription factor 1 |
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IAGP |
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HPO |
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MIM:617746 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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MIM:614378 ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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MIM:614091 ORPHA:1515 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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ZBTB20 |
zinc finger and BTB domain containing 20 |
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IAGP |
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HPO |
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MIM:259050 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:90154 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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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:616849 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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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 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:271700 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:79445 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:271700 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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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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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:271700 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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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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G |
H19-ICR |
H19/IGF2 imprinting control region |
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IAGP |
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HPO |
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MIM:180860 |
NCBI chr11:1,998,202...2,003,509
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HNRNPR |
heterogeneous nuclear ribonucleoprotein R |
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IAGP |
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HPO |
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MIM:620073 |
NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336
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IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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MIM:180860 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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MIM:614608 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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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:616849 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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FLNA |
filamin A |
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IAGP |
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HPO |
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ORPHA:1826 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:79445 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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ORPHA:1826 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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G |
PTCH1 |
patched 1 |
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IAGP |
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HPO |
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MIM:109400 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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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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BMP2 |
bone morphogenetic protein 2 |
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IAGP |
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HPO |
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ORPHA:93396 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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G |
BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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MIM:607932 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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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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ORPHA:93384 ORPHA:93388 ORPHA:93396 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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CEP152 |
centrosomal protein 152 |
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IAGP |
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HPO |
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MIM:613823 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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G |
COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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MIM:156500 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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G |
DOCK6 |
dedicator of cytokinesis 6 |
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IAGP |
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HPO |
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MIM:614219 |
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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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 ORPHA:15 |
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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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 |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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ORPHA:63442 ORPHA:93384 ORPHA:93388 ORPHA:93396 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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GMNN |
geminin DNA replication inhibitor |
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IAGP |
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HPO |
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MIM:616835 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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MIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT57 |
intraflagellar transport 57 |
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IAGP |
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HPO |
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MIM:617927 |
NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435
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G |
IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:607778 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 |
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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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 |
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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G |
MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
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HPO |
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MIM:156200 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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G |
MIR17HG |
miR-17-92a-1 cluster host gene |
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IAGP |
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HPO |
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ORPHA:391646 |
NCBI chr13:91,347,687...91,354,577
Ensembl chr13:91,347,686...91,397,592
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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 MIM:620748 ORPHA:391641 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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NEPRO |
nucleolus and neural progenitor protein |
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IAGP |
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HPO |
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MIM:618853 |
NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861
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G |
PCNT |
pericentrin |
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IAGP |
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HPO |
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MIM:210720 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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G |
PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:439822 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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G |
POLA1 |
DNA polymerase alpha 1, catalytic subunit |
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IAGP |
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HPO |
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MIM:301030 |
NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986
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G |
PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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MIM:600002 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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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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G |
SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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MIM:256050 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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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 ORPHA:85169 ORPHA:93314 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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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 |
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 |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:113100 MIM:615072 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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ORPHA:93409 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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G |
INTU |
inturned planar cell polarity protein |
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IAGP |
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HPO |
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MIM:617926 |
NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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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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ORPHA:391641 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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MIM:119600 MIM:156510 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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G |
SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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MIM:136140 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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G |
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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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:113100 MIM:615072 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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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:615072 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
MECOM |
MDS1 and EVI1 complex locus |
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IAGP |
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HPO |
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MIM:616738 |
NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775
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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 |
BMP2 |
bone morphogenetic protein 2 |
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IAGP |
|
HPO |
|
MIM:112600 ORPHA:93396 |
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 |
|
HPO |
|
MIM:112600 MIM:616849 ORPHA:93396 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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G |
DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
|
MIM:180700 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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G |
ERF |
ETS2 repressor factor |
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IAGP |
|
HPO |
|
MIM:617180 |
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
|
HPO |
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MIM:112600 MIM:113100 MIM:615072 ORPHA:63442 ORPHA:93396 |
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 |
|
HPO |
|
MIM:164200 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
|
HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
H19-ICR |
H19/IGF2 imprinting control region |
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IAGP |
|
HPO |
|
MIM:180860 |
NCBI chr11:1,998,202...2,003,509
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G |
HOXD13 |
homeobox D13 |
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IAGP |
|
HPO |
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MIM:186000 ORPHA:93409 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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G |
IGF2 |
insulin like growth factor 2 |
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IAGP |
|
HPO |
|
MIM:180860 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
|
HPO |
|
ORPHA:391641 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
NIN |
ninein |
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IAGP |
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HPO |
|
MIM:614851 ORPHA:319675 |
NCBI chr14:50,719,763...50,831,503
Ensembl chr14:50,719,763...50,831,162
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G |
NOG |
noggin |
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IAGP |
|
HPO |
|
MIM:186500 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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G |
PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
|
HPO |
|
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 |
PUM1 |
pumilio RNA binding family member 1 |
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IAGP |
|
HPO |
|
MIM:620719 |
NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991
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G |
RAI1 |
retinoic acid induced 1 |
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IAGP |
|
HPO |
|
MIM:182290 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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G |
RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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MIM:251255 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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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:268310 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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MIM:119600 MIM:156510 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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MIM:136140 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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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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TFAP2B |
transcription factor AP-2 beta |
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IAGP |
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HPO |
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ORPHA:46627 |
NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
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WNT5A |
Wnt family member 5A |
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IAGP |
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HPO |
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MIM:180700 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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MIM:225410 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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BGN |
biglycan |
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IAGP |
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HPO |
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MIM:300106 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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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:609441 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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MIM:143095 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
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HPO |
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MIM:215150 ORPHA:1427 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:132450 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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MIM:132400 MIM:177170 ORPHA:750 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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CTSK |
cathepsin K |
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IAGP |
ClinVar Annotator: match by term: Short phalanx of finger |
ClinVar |
PMID:24767306 PMID:25741868 PMID:28492532 PMID:31944631 |
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NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DNA2 |
DNA replication helicase/nuclease 2 |
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IAGP |
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HPO |
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MIM:620819 |
NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
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DNMT3A |
DNA methyltransferase 3 alpha |
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IAGP |
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HPO |
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MIM:618724 |
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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DPYS |
dihydropyrimidinase |
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IAGP |
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HPO |
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MIM:222748 |
NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055
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DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
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HPO |
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MIM:616894 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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DYM |
dymeclin |
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IAGP |
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HPO |
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MIM:607326 |
NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
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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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EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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ORPHA:508533 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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MIM:102370 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:166250 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FLNA |
filamin A |
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IAGP |
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HPO |
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ORPHA:1826 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:200700 MIM:228900 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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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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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 NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654
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HHAT |
hedgehog acyltransferase |
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IAGP |
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HPO |
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MIM:600092 ORPHA:1422 |
NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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MIM:610713 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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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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IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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MIM:617102 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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IL11RA |
interleukin 11 receptor subunit alpha |
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IAGP |
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HPO |
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MIM:614188 |
NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
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INPPL1 |
inositol polyphosphate phosphatase like 1 |
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IAGP |
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HPO |
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MIM:258480 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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KAT6B |
lysine acetyltransferase 6B |
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IAGP |
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HPO |
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MIM:606170 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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KCNJ2 |
potassium inwardly rectifying channel subfamily J member 2 |
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IAGP |
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HPO |
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MIM:170390 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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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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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LIFR |
LIF receptor subunit alpha |
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IAGP |
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HPO |
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MIM:601559 |
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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MIM:600373 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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ORPHA:1826 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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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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NHS |
NHS actin remodeling regulator |
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IAGP |
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HPO |
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MIM:302350 |
NCBI chr X:17,375,200...17,735,994
Ensembl chr X:17,375,200...17,735,994
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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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PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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ORPHA:85167 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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G |
PDE3A |
phosphodiesterase 3A |
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IAGP |
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HPO |
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MIM:112410 ORPHA:1276 |
NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
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PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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MIM:614613 ORPHA:439822 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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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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MIM:114300 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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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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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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MIM:101800 |
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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RAB33B |
RAB33B, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:615222 |
NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609
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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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MIM:212720 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RBM8A |
RNA binding motif protein 8A |
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IAGP |
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HPO |
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MIM:274000 |
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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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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MIM:263650 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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SH3PXD2B |
SH3 and PX domains 2B |
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IAGP |
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HPO |
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MIM:249420 |
NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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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:56304 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SLC39A13 |
solute carrier family 39 member 13 |
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IAGP |
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HPO |
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MIM:612350 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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IAGP |
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HPO |
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MIM:601358 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
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G |
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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G |
TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
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HPO |
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MIM:184260 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
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HPO |
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MIM:190351 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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XYLT1 |
xylosyltransferase 1 |
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IAGP |
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HPO |
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MIM:615777 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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MIM:608612 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
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IAGP |
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HPO |
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ORPHA:420561 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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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:616849 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
|
HPO |
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ORPHA:15 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:607778 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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MTOR |
mechanistic target of rapamycin kinase |
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IAGP |
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HPO |
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MIM:616638 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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KIF15 |
kinesin family member 15 |
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IAGP |
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HPO |
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ORPHA:261323 |
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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KIF15 |
kinesin family member 15 |
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IAGP |
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HPO |
|
ORPHA:261323 |
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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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:616849 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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G |
ERI1 |
exoribonuclease 1 |
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IAGP |
|
HPO |
|
MIM:620662 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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G |
IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:112500 MIM:607778 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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G |
ALG6 |
ALG6 alpha-1,3-glucosyltransferase |
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IAGP |
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HPO |
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ORPHA:79320 |
NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
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G |
BRF1 |
BRF1 general transcription factor IIIB subunit |
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IAGP |
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HPO |
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MIM:616202 |
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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G |
GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
|
MIM:146510 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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G |
MGP |
matrix Gla protein |
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IAGP |
|
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 |
PGAP2 |
post-GPI attachment to proteins 2 |
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IAGP |
|
HPO |
|
MIM:614207 ORPHA:247262 |
NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
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G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
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IAGP |
|
HPO |
|
MIM:615716 ORPHA:247262 |
NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
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G |
PHF6 |
PHD finger protein 6 |
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IAGP |
|
HPO |
|
MIM:301900 |
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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G |
PIGO |
phosphatidylinositol glycan anchor biosynthesis class O |
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IAGP |
|
HPO |
|
MIM:614749 ORPHA:247262 |
NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619
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G |
PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
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IAGP |
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HPO |
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ORPHA:247262 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
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G |
PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
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IAGP |
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HPO |
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ORPHA:247262 |
NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
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G |
PIGY |
phosphatidylinositol glycan anchor biosynthesis class Y |
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IAGP |
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HPO |
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MIM:616809 ORPHA:247262 |
NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
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G |
POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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G |
VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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MIM:619135 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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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 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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G |
EIF2AK3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
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IAGP |
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HPO |
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MIM:226980 |
NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518
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G |
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 |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:201250 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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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 |
PHF6 |
PHD finger protein 6 |
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IAGP |
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HPO |
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MIM:301900 |
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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G |
CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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MIM:211380 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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G |
DPYD |
dihydropyrimidine dehydrogenase |
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IAGP |
ClinVar Annotator: match by term: Shortening of all phalanges of fingers |
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 |
GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
ClinVar Annotator: match by term: Shortening of all phalanges of fingers |
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 |
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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G |
TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
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HPO |
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ORPHA:77258 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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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 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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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:201250 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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Term paths to the root
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