Term: | Internal hemorrhage |
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Accession: | HP:0011029
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browse the term
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Definition: | The presence of hemorrhage within the body. |
Synonyms: | exact_synonym: | Internal bleeding; Internal haemorrhage |
| xref: | UMLS:C1390214 |
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AGGF1 |
angiogenic factor with G-patch and FHA domains 1 |
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IAGP |
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HPO |
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ORPHA:90308 |
NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234
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CD46 |
CD46 molecule |
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IAGP |
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HPO |
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ORPHA:244242 |
NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
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CFH |
complement factor H |
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IAGP |
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HPO |
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ORPHA:244242 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CFI |
complement factor I |
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IAGP |
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HPO |
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ORPHA:244242 |
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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HELLPAR |
HELLP associated long non-coding RNA |
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IAGP |
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HPO |
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ORPHA:244242 |
Ensembl chr12:102,197,585...102,402,596
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IFNG |
interferon gamma |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:90308 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
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HPO |
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MIM:608836 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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NDE1 |
nudE neurodevelopment protein 1 |
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IAGP |
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HPO |
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ORPHA:2177 |
NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
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F10 |
coagulation factor X |
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IAGP |
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HPO |
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ORPHA:328 |
NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
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ACAD9 |
acyl-CoA dehydrogenase family member 9 |
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IAGP |
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HPO |
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ORPHA:99901 |
NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003
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APP |
amyloid beta precursor protein |
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IAGP |
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HPO |
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MIM:605714 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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IVD |
isovaleryl-CoA dehydrogenase |
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IAGP |
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HPO |
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MIM:243500 |
NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947
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MMUT |
methylmalonyl-CoA mutase |
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IAGP |
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HPO |
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MIM:251000 |
NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
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PCCA |
propionyl-CoA carboxylase subunit alpha |
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IAGP |
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HPO |
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MIM:606054 |
NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437
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PCCB |
propionyl-CoA carboxylase subunit beta |
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IAGP |
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HPO |
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MIM:606054 |
NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:177850 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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MIM:620278 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ACVRL1 |
activin A receptor like type 1 |
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IAGP |
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HPO |
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MIM:600376 ORPHA:774 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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MIM:182410 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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APP |
amyloid beta precursor protein |
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IAGP |
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HPO |
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ORPHA:100006 ORPHA:324703 ORPHA:324708 ORPHA:324713 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BRCC3 |
BRCA1/BRCA2-containing complex subunit 3 |
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IAGP |
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HPO |
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ORPHA:280679 |
NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077
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CCM2 |
CCM2 scaffold protein |
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IAGP |
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HPO |
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MIM:603284 ORPHA:221061 |
NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
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CD46 |
CD46 molecule |
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IAGP |
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HPO |
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ORPHA:244242 |
NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
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CFH |
complement factor H |
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IAGP |
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HPO |
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ORPHA:244242 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CFI |
complement factor I |
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IAGP |
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HPO |
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ORPHA:244242 |
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
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HPO |
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MIM:175780 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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COL4A2 |
collagen type IV alpha 2 chain |
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IAGP |
ClinVar Annotator: match by term: Hemorrhagic stroke |
ClinVar |
PMID:28492532 |
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NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
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COL4A2-AS1 |
COL4A2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hemorrhagic stroke |
ClinVar |
PMID:28492532 |
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NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
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CST3 |
cystatin C |
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IAGP |
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HPO |
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MIM:105150 ORPHA:100008 |
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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DLST |
dihydrolipoamide S-succinyltransferase |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
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DNMT3A |
DNA methyltransferase 3 alpha |
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IAGP |
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HPO |
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ORPHA:276621 |
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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ENG |
endoglin |
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IAGP |
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HPO |
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MIM:187300 ORPHA:774 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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EPAS1 |
endothelial PAS domain protein 1 |
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IAGP |
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HPO |
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ORPHA:276621 |
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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EPOR |
erythropoietin receptor |
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IAGP |
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HPO |
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MIM:133100 |
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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ESAM |
endothelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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EXT2 |
exostosin glycosyltransferase 2 |
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IAGP |
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HPO |
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MIM:616682 |
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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F11 |
coagulation factor XI |
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IAGP |
ClinVar Annotator: match by term: Intracerebral hemorrhage |
ClinVar |
PMID:23929304 PMID:27067486 PMID:28492532 PMID:34776502 |
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NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
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F13A1 |
coagulation factor XIII A chain |
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IAGP |
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HPO |
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ORPHA:331 |
NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
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F13B |
coagulation factor XIII B chain |
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IAGP |
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HPO |
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ORPHA:331 |
NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
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FCGR2C |
Fc gamma receptor IIc (gene/pseudogene) |
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IAGP |
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HPO |
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ORPHA:3002 |
NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
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FGA |
fibrinogen alpha chain |
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IAGP |
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HPO |
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ORPHA:98880 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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FGB |
fibrinogen beta chain |
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IAGP |
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HPO |
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ORPHA:98880 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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FGG |
fibrinogen gamma chain |
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IAGP |
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HPO |
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ORPHA:98880 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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FH |
fumarate hydratase |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:300049 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FN1 |
fibronectin 1 |
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IAGP |
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HPO |
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ORPHA:84090 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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GALE |
UDP-galactose-4-epimerase |
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IAGP |
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HPO |
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MIM:620776 |
NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781
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GDF2 |
growth differentiation factor 2 |
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IAGP |
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HPO |
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ORPHA:774 |
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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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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HADHB |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
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IAGP |
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HPO |
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MIM:620300 |
NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
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HELLPAR |
HELLP associated long non-coding RNA |
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IAGP |
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HPO |
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ORPHA:244242 |
Ensembl chr12:102,197,585...102,402,596
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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MIM:301081 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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JAK2 |
Janus kinase 2 |
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IAGP |
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HPO |
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MIM:133100 MIM:263300 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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KIF1B |
kinesin family member 1B |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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KRIT1 |
KRIT1 ankyrin repeat containing |
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IAGP |
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HPO |
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ORPHA:221061 |
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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LMOD2 |
leiomodin 2 |
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IAGP |
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HPO |
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MIM:619897 |
NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290
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MAX |
MYC associated factor X |
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IAGP |
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HPO |
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MIM:171300 ORPHA:29072 |
NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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MDH2 |
malate dehydrogenase 2 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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NOTCH3 |
notch receptor 3 |
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IAGP |
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HPO |
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ORPHA:136 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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PDCD10 |
programmed cell death 10 |
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IAGP |
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HPO |
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MIM:603285 ORPHA:221061 |
NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:221061 ORPHA:2495 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PROS1 |
protein S |
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IAGP |
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HPO |
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MIM:614514 |
NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
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RET |
ret proto-oncogene |
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IAGP |
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HPO |
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MIM:171300 ORPHA:276621 ORPHA:29072 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHAF2 |
succinate dehydrogenase complex assembly factor 2 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
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SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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HPO |
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ORPHA:276621 ORPHA:29072 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHC |
succinate dehydrogenase complex subunit C |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD |
succinate dehydrogenase complex subunit D |
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IAGP |
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HPO |
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ORPHA:276621 ORPHA:29072 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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SH2B3 |
SH2B adaptor protein 3 |
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IAGP |
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HPO |
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MIM:133100 |
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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SLC25A11 |
solute carrier family 25 member 11 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
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SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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ORPHA:774 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCE1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SNORD118 |
small nucleolar RNA, C/D box 118 |
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IAGP |
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HPO |
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ORPHA:542310 |
NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
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STAT2 |
signal transducer and activator of transcription 2 |
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IAGP |
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HPO |
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MIM:618886 |
NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
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SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TMEM127 |
transmembrane protein 127 |
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IAGP |
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HPO |
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MIM:171300 ORPHA:29072 |
NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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TRAF7 |
TNF receptor associated factor 7 |
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IAGP |
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HPO |
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ORPHA:2495 |
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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USP18 |
ubiquitin specific peptidase 18 |
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IAGP |
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HPO |
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MIM:617397 |
NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397
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VHL |
von Hippel-Lindau tumor suppressor |
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IAGP |
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HPO |
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MIM:171300 MIM:263400 ORPHA:276621 ORPHA:29072 |
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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ZFX |
zinc finger protein X-linked |
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IAGP |
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HPO |
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MIM:301118 |
NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255
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RANBP2 |
RAN binding protein 2 |
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IAGP |
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HPO |
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ORPHA:88619 |
NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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MIM:130050 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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EIF2AK4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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IAGP |
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HPO |
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ORPHA:199241 |
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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FIP1L1 |
factor interacting with PAPOLA and CPSF1 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382
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HLA-DPA1 |
major histocompatibility complex, class II, DP alpha 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
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HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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HMOX1 |
heme oxygenase 1 |
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IAGP |
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HPO |
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MIM:614034 |
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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IRF2BP2 |
interferon regulatory factor 2 binding protein 2 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178
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NABP1 |
nucleic acid binding protein 1 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
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NLRC4 |
NLR family CARD domain containing 4 |
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IAGP |
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HPO |
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MIM:616050 |
NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
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NPM1 |
nucleophosmin 1 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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NUMA1 |
nuclear mitotic apparatus protein 1 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
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PML |
PML nuclear body scaffold |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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PRTN3 |
proteinase 3 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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RARA |
retinoic acid receptor alpha |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STAT5B |
signal transducer and activator of transcription 5B |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
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TBL1XR1 |
TBL1X/Y related 1 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
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ZBTB16 |
zinc finger and BTB domain containing 16 |
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IAGP |
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HPO |
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ORPHA:520 |
NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
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F8 |
coagulation factor VIII |
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IAGP |
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HPO |
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ORPHA:169802 ORPHA:169805 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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FGA |
fibrinogen alpha chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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FGB |
fibrinogen beta chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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G |
FGG |
fibrinogen gamma chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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G |
IPO8 |
importin 8 |
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IAGP |
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HPO |
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MIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
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SERPINE1 |
serpin family E member 1 |
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IAGP |
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HPO |
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ORPHA:465 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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DHPS |
deoxyhypusine synthase |
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IAGP |
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HPO |
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MIM:618480 |
NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:177850 MIM:264800 ORPHA:758 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
ACVRL1 |
activin A receptor like type 1 |
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IAGP |
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HPO |
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ORPHA:774 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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G |
AGGF1 |
angiogenic factor with G-patch and FHA domains 1 |
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IAGP |
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HPO |
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ORPHA:90308 |
NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234
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G |
ALDOB |
aldolase, fructose-bisphosphate B |
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IAGP |
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HPO |
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MIM:229600 |
NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:873 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOLD1 |
apolipoprotein L domain containing 1 |
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IAGP |
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HPO |
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MIM:620715 |
NCBI chr12:12,725,917...12,791,466
Ensembl chr12:12,725,917...12,829,975
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ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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G |
ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:98850 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:440437 ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
C4A |
complement C4A (Chido/Rodgers blood group) |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
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G |
CALR |
calreticulin |
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IAGP |
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HPO |
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ORPHA:131 |
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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G |
CASP10 |
caspase 10 |
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IAGP |
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HPO |
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MIM:603909 |
NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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ORPHA:98850 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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G |
CBS |
cystathionine beta-synthase |
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IAGP |
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HPO |
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ORPHA:394 |
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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G |
CCR1 |
C-C motif chemokine receptor 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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G |
CD109 |
CD109 molecule |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
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G |
CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CISD2 |
CDGSH iron sulfur domain 2 |
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IAGP |
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HPO |
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ORPHA:3463 |
NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
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G |
COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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G |
CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:873 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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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 |
DZIP1L |
DAZ interacting zinc finger protein 1 like |
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IAGP |
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HPO |
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ORPHA:731 |
NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
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G |
ENG |
endoglin |
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IAGP |
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HPO |
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MIM:187300 ORPHA:774 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:758 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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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 |
EPCAM |
epithelial cell adhesion molecule |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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G |
EPHB2 |
EPH receptor B2 |
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IAGP |
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HPO |
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MIM:618462 |
NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
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G |
ERAP1 |
endoplasmic reticulum aminopeptidase 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
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G |
F10 |
coagulation factor X |
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IAGP |
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HPO |
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ORPHA:328 |
NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
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G |
F11 |
coagulation factor XI |
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IAGP |
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HPO |
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ORPHA:329 |
NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
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G |
F2 |
coagulation factor II, thrombin |
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IAGP |
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HPO |
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MIM:613679 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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G |
F5 |
coagulation factor V |
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IAGP |
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HPO |
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ORPHA:131 ORPHA:326 |
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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G |
F7 |
coagulation factor VII |
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IAGP |
|
HPO |
|
ORPHA:327 |
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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G |
F8 |
coagulation factor VIII |
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IAGP |
|
HPO |
|
ORPHA:169802 ORPHA:169805 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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G |
F9 |
coagulation factor IX |
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IAGP |
|
HPO |
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MIM:306900 |
NCBI chr X:139,530,739...139,563,459
Ensembl chr X:139,530,739...139,563,459
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G |
FAH |
fumarylacetoacetate hydrolase |
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IAGP |
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HPO |
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MIM:276700 |
NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
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G |
FAS |
Fas cell surface death receptor |
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IAGP |
|
HPO |
|
ORPHA:117 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FCGR2C |
Fc gamma receptor IIc (gene/pseudogene) |
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IAGP |
|
HPO |
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ORPHA:3002 |
NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
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G |
FGA |
fibrinogen alpha chain |
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IAGP |
|
HPO |
|
ORPHA:101041 ORPHA:98881 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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G |
FGB |
fibrinogen beta chain |
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IAGP |
|
HPO |
|
ORPHA:101041 ORPHA:98881 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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G |
FGG |
fibrinogen gamma chain |
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IAGP |
|
HPO |
|
ORPHA:101041 ORPHA:98881 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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G |
GDF2 |
growth differentiation factor 2 |
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IAGP |
|
HPO |
|
ORPHA:774 |
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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G |
GFI1B |
growth factor independent 1B transcriptional repressor |
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IAGP |
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HPO |
|
MIM:187900 |
NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687
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G |
GP1BA |
glycoprotein Ib platelet subunit alpha |
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IAGP |
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HPO |
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MIM:231200 ORPHA:274 ORPHA:853 |
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
|
HPO |
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MIM:231200 ORPHA:274 ORPHA:567 ORPHA:853 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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G |
GP9 |
glycoprotein IX platelet |
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IAGP |
|
HPO |
|
MIM:231200 ORPHA:274 |
NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
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G |
HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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HLA-B |
major histocompatibility complex, class I, B |
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IAGP |
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HPO |
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ORPHA:117 ORPHA:36426 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DPA1 |
major histocompatibility complex, class II, DP alpha 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
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HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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HPGD |
15-hydroxyprostaglandin dehydrogenase |
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IAGP |
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HPO |
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ORPHA:2796 |
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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HSD3B7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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IAGP |
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HPO |
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ORPHA:79301 |
NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147
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IFNGR1 |
interferon gamma receptor 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IKZF1 |
IKAROS family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:36426 |
NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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IL10 |
interleukin 10 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL12A |
interleukin 12A |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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G |
IL12A-AS1 |
IL12A antisense RNA 1 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966
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IL23R |
interleukin 23 receptor |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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IRF4 |
interferon regulatory factor 4 |
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IAGP |
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HPO |
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ORPHA:3452 |
NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
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ITGA2 |
integrin subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
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ITGA2B |
integrin subunit alpha 2b |
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IAGP |
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HPO |
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MIM:273800 ORPHA:849 ORPHA:853 |
NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
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ITGB3 |
integrin subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:849 ORPHA:853 |
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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JAK2 |
Janus kinase 2 |
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IAGP |
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HPO |
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MIM:263300 ORPHA:131 ORPHA:729 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
KLRC4 |
killer cell lectin like receptor C4 |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:613471 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LMAN1 |
lectin, mannose binding 1 |
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IAGP |
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HPO |
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ORPHA:35909 |
NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
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LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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ORPHA:2924 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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MCFD2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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IAGP |
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HPO |
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ORPHA:35909 |
NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855
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MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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ORPHA:117 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
MLH1 |
mutL homolog 1 |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MPI |
mannose phosphate isomerase |
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IAGP |
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HPO |
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ORPHA:79319 |
NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219
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G |
MSH2 |
mutS homolog 2 |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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G |
MSH6 |
mutS homolog 6 |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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MUTYH |
mutY DNA glycosylase |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
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MVK |
mevalonate kinase |
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IAGP |
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HPO |
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ORPHA:343 |
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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MYC |
MYC proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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ORPHA:543 |
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
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IAGP |
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HPO |
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ORPHA:33226 |
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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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 |
PDGFRA |
platelet derived growth factor receptor alpha |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:144 ORPHA:90308 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
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HPO |
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ORPHA:731 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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MIM:225400 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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G |
PMS1 |
PMS1 homolog 1, mismatch repair system component |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
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G |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
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IAGP |
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HPO |
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ORPHA:144 |
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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G |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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G |
POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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G |
POT1 |
protection of telomeres 1 |
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IAGP |
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HPO |
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MIM:620368 |
NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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G |
PRKCSH |
PRKCSH beta subunit of glucosidase II |
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IAGP |
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HPO |
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ORPHA:2924 |
NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968
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G |
PRTN3 |
proteinase 3 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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G |
PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
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HPO |
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ORPHA:508488 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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G |
RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
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IAGP |
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HPO |
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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 |
RHBDF2 |
rhomboid 5 homolog 2 |
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IAGP |
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HPO |
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ORPHA:2198 |
NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790
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G |
RPS20 |
ribosomal protein S20 |
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IAGP |
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HPO |
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ORPHA:440437 |
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
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G |
RREB1 |
ras responsive element binding protein 1 |
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IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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G |
RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:98850 |
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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HPO |
|
ORPHA:44890 ORPHA:97286 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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G |
SDHC |
succinate dehydrogenase complex subunit C |
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IAGP |
|
HPO |
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ORPHA:44890 ORPHA:97286 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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G |
SDHD |
succinate dehydrogenase complex subunit D |
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IAGP |
|
HPO |
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ORPHA:97286 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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G |
SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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G |
SEC63 |
SEC63 homolog, protein translocation regulator |
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IAGP |
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HPO |
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ORPHA:2924 |
NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208
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G |
SEMA4A |
semaphorin 4A |
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IAGP |
|
HPO |
|
ORPHA:440437 |
NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752
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G |
SERPINE1 |
serpin family E member 1 |
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IAGP |
ClinVar Annotator: match by term: Gastrointestinal hemorrhage |
ClinVar HPO |
PMID:25741868 |
ORPHA:465 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SLC25A13 |
solute carrier family 25 member 13 |
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IAGP |
|
HPO |
|
ORPHA:247598 |
NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
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G |
SLCO2A1 |
solute carrier organic anion transporter family member 2A1 |
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IAGP |
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HPO |
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ORPHA:2796 |
NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
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G |
SMAD4 |
SMAD family member 4 |
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IAGP |
|
HPO |
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ORPHA:774 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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G |
SRSF2 |
serine and arginine rich splicing factor 2 |
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IAGP |
|
HPO |
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ORPHA:98850 |
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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G |
STAT4 |
signal transducer and activator of transcription 4 |
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IAGP |
|
HPO |
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ORPHA:117 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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ORPHA:2869 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
STN1 |
STN1 subunit of CST complex |
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IAGP |
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HPO |
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MIM:617341 |
NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332
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G |
TBX1 |
T-box transcription factor 1 |
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IAGP |
|
HPO |
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ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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G |
TET2 |
tet methylcytosine dioxygenase 2 |
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IAGP |
|
HPO |
|
ORPHA:98850 |
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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G |
TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
|
HPO |
|
ORPHA:144 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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G |
TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
|
HPO |
|
MIM:613990 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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G |
TLR4 |
toll like receptor 4 |
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IAGP |
|
HPO |
|
ORPHA:117 |
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
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IAGP |
|
HPO |
|
MIM:142680 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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G |
TNXB |
tenascin XB |
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IAGP |
|
HPO |
|
ORPHA:230839 |
NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
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G |
TREX1 |
three prime repair exonuclease 1 |
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IAGP |
|
HPO |
|
MIM:192315 ORPHA:247691 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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G |
TRMU |
tRNA mitochondrial 2-thiouridylase |
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IAGP |
DNA:mutations:multiple |
RGD |
PMID:19732863 |
RGD:25440486 |
NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
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G |
TSC1 |
TSC complex subunit 1 |
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IAGP |
|
HPO |
|
ORPHA:538 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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G |
TSC2 |
TSC complex subunit 2 |
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IAGP |
|
HPO |
|
ORPHA:538 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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G |
UBAC2 |
UBA domain containing 2 |
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IAGP |
|
HPO |
|
ORPHA:117 |
NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
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G |
UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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G |
VWF |
von Willebrand factor |
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IAGP |
|
HPO |
|
MIM:193400 |
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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IAGP |
|
HPO |
|
ORPHA:3463 |
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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G |
XYLT1 |
xylosyltransferase 1 |
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IAGP |
|
HPO |
|
MIM:264800 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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G |
XYLT2 |
xylosyltransferase 2 |
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IAGP |
|
HPO |
|
MIM:264800 |
NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
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G |
SEMA6B |
semaphorin 6B |
|
IAGP |
ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage |
ClinVar |
PMID:31474318 |
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NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776
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G |
ACVRL1 |
activin A receptor like type 1 |
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IAGP |
|
HPO |
|
MIM:600376 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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G |
ATRX |
ATRX chromatin remodeler |
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IAGP |
|
HPO |
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ORPHA:100075 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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ENG |
endoglin |
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IAGP |
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HPO |
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MIM:187300 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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F8 |
coagulation factor VIII |
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IAGP |
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HPO |
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MIM:306700 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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F9 |
coagulation factor IX |
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IAGP |
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HPO |
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MIM:306900 |
NCBI chr X:139,530,739...139,563,459
Ensembl chr X:139,530,739...139,563,459
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FGA |
fibrinogen alpha chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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FGB |
fibrinogen beta chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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FGG |
fibrinogen gamma chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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GP1BA |
glycoprotein Ib platelet subunit alpha |
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IAGP |
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HPO |
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ORPHA:274 |
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:274 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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GP9 |
glycoprotein IX platelet |
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IAGP |
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HPO |
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ORPHA:274 |
NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:615846 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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MIM:301068 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
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HPO |
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MIM:263200 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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MIM:301000 ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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ACVRL1 |
activin A receptor like type 1 |
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IAGP |
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HPO |
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MIM:600376 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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AMACR |
alpha-methylacyl-CoA racemase |
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IAGP |
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HPO |
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MIM:214950 ORPHA:79095 |
NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:99818 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARPC1B |
actin related protein 2/3 complex subunit 1B |
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IAGP |
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HPO |
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MIM:617718 |
NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
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ARPC5 |
actin related protein 2/3 complex subunit 5 |
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IAGP |
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HPO |
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MIM:620565 |
NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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MIM:174900 ORPHA:157794 ORPHA:329971 ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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CHEK2 |
checkpoint kinase 2 |
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IAGP |
ClinVar Annotator: match by term: Hematochezia |
ClinVar |
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18381420 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26467025 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:36222830 PMID:37055167 PMID:37149759 More...
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NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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G |
CIITA |
class II major histocompatibility complex transactivator |
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IAGP |
ClinVar Annotator: match by term: Recurrent rectal bleeding |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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G |
CYP7B1 |
cytochrome P450 family 7 subfamily B member 1 |
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IAGP |
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HPO |
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MIM:613812 |
NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
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G |
ENG |
endoglin |
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IAGP |
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HPO |
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MIM:187300 ORPHA:329971 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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G |
F5 |
coagulation factor V |
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IAGP |
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HPO |
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ORPHA:326 |
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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G |
FLNA |
filamin A |
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IAGP |
ClinVar Annotator: match by term: Hematochezia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
GREM1 |
gremlin 1, DAN family BMP antagonist |
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IAGP |
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HPO |
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ORPHA:157794 |
NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106
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G |
HPS1 |
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 |
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IAGP |
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HPO |
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MIM:203300 |
NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963
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G |
IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:615846 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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G |
IL10RA |
interleukin 10 receptor subunit alpha |
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IAGP |
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HPO |
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MIM:613148 |
NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037
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G |
PLVAP |
plasmalemma vesicle associated protein |
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IAGP |
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HPO |
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MIM:618183 |
NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
RBCK1 |
RANBP2-type and C3HC4-type zinc finger containing 1 |
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IAGP |
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HPO |
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MIM:615895 |
NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139
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G |
SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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MIM:174900 MIM:175050 ORPHA:329971 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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G |
TAOK1 |
TAO kinase 1 |
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IAGP |
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HPO |
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MIM:619575 |
NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
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G |
TTC7A |
tetratricopeptide repeat domain 7A |
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IAGP |
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HPO |
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MIM:243150 |
NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
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G |
WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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G |
ATOH7 |
atonal bHLH transcription factor 7 |
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IAGP |
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HPO |
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ORPHA:91495 |
NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113
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G |
FCGR2C |
Fc gamma receptor IIc (gene/pseudogene) |
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IAGP |
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HPO |
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ORPHA:3002 |
NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662
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G |
FZD4 |
frizzled class receptor 4 |
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IAGP |
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HPO |
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ORPHA:91495 |
NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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G |
NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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ORPHA:91495 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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G |
ATOH7 |
atonal bHLH transcription factor 7 |
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IAGP |
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HPO |
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MIM:221900 |
NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113
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G |
HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:232 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:261584 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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MIM:612199 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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MIM:175200 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
TEK |
TEK receptor tyrosine kinase |
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IAGP |
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HPO |
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MIM:600195 ORPHA:1059 |
NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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ORPHA:820 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ALPL |
alkaline phosphatase, biomineralization associated |
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IAGP |
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HPO |
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MIM:241500 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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G |
ANGPTL6 |
angiopoietin like 6 |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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MIM:309400 ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
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IAGP |
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HPO |
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ORPHA:369929 |
NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
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CBS |
cystathionine beta-synthase |
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IAGP |
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HPO |
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ORPHA:394 |
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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G |
CD109 |
CD109 molecule |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
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G |
CLCN2 |
chloride voltage-gated channel 2 |
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IAGP |
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HPO |
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ORPHA:404 |
NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Intracranial hemorrhage |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 PMID:17938367 PMID:19344236 PMID:22102590 PMID:25741868 PMID:26362372 PMID:28492532 PMID:31857254 PMID:32033901 More...
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NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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G |
COL4A2 |
collagen type IV alpha 2 chain |
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IAGP |
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HPO |
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MIM:614483 |
NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
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G |
CST3 |
cystatin C |
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IAGP |
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HPO |
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MIM:105150 |
NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473
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G |
CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
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IAGP |
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HPO |
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ORPHA:403 ORPHA:90795 |
NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
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G |
CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
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IAGP |
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HPO |
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ORPHA:403 |
NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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G |
CYP26C1 |
cytochrome P450 family 26 subfamily C member 1 |
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IAGP |
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HPO |
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ORPHA:398189 |
NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540
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G |
DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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IAGP |
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HPO |
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ORPHA:86309 |
NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
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G |
ENG |
endoglin |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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G |
ESAM |
endothelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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G |
F10 |
coagulation factor X |
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IAGP |
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HPO |
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MIM:227600 |
NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
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G |
F13A1 |
coagulation factor XIII A chain |
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IAGP |
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HPO |
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MIM:613225 |
NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
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G |
F2 |
coagulation factor II, thrombin |
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IAGP |
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HPO |
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ORPHA:325 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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G |
F5 |
coagulation factor V |
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IAGP |
|
HPO |
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ORPHA:326 |
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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G |
F7 |
coagulation factor VII |
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IAGP |
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HPO |
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MIM:227500 ORPHA:327 |
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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G |
F8 |
coagulation factor VIII |
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IAGP |
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HPO |
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ORPHA:169802 ORPHA:169805 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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G |
GATA2 |
GATA binding protein 2 |
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IAGP |
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HPO |
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ORPHA:228423 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:85212 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:624 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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G |
GP1BA |
glycoprotein Ib platelet subunit alpha |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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G |
ITGA2 |
integrin subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
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G |
ITGA2B |
integrin subunit alpha 2b |
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IAGP |
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HPO |
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MIM:273800 ORPHA:853 |
NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
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G |
ITGB3 |
integrin subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
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IAGP |
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HPO |
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ORPHA:251274 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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G |
KRIT1 |
KRIT1 ankyrin repeat containing |
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IAGP |
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HPO |
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MIM:116860 |
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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G |
LMAN1 |
lectin, mannose binding 1 |
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IAGP |
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HPO |
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ORPHA:35909 |
NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:363618 ORPHA:740 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
MCFD2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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IAGP |
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HPO |
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ORPHA:35909 |
NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855
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G |
NOTCH3 |
notch receptor 3 |
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IAGP |
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HPO |
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ORPHA:136 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
ClinVar Annotator: match by term: Intracranial hemorrhage |
ClinVar |
PMID:25741868 |
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NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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G |
PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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ORPHA:79318 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:109 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
SAMD9 |
sterile alpha motif domain containing 9 |
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IAGP |
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HPO |
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MIM:617053 |
NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
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G |
SERPINE1 |
serpin family E member 1 |
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IAGP |
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HPO |
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ORPHA:465 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SERPINF2 |
serpin family F member 2 |
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IAGP |
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HPO |
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ORPHA:79 |
NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
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G |
SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
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MIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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G |
TGFBR3 |
transforming growth factor beta receptor 3 |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335
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G |
THSD1 |
thrombospondin type 1 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
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G |
TMEM237 |
transmembrane protein 237 |
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IAGP |
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HPO |
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MIM:614424 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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G |
WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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G |
ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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ORPHA:820 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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G |
CNTNAP2 |
contactin associated protein 2 |
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IAGP |
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HPO |
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MIM:610042 |
NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Intraventricular hemorrhage |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 PMID:17938367 PMID:19344236 PMID:22102590 PMID:25741868 PMID:26362372 PMID:28492532 PMID:31857254 PMID:32033901 More...
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NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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G |
COL4A2 |
collagen type IV alpha 2 chain |
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IAGP |
ClinVar Annotator: match by term: Intraventricular hemorrhage |
ClinVar |
PMID:25741868 PMID:33527515 |
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NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
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G |
COL4A2-AS1 |
COL4A2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Intraventricular hemorrhage |
ClinVar |
PMID:25741868 PMID:33527515 |
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NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
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G |
F8 |
coagulation factor VIII |
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IAGP |
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HPO |
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ORPHA:169805 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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G |
LMBRD1 |
LMBR1 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:79284 |
NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
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G |
MARS2 |
methionyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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MIM:616430 |
NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395
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G |
NFIA |
nuclear factor I A |
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IAGP |
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HPO |
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ORPHA:401986 |
NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
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G |
PET100 |
PET100 cytochrome c oxidase chaperone |
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IAGP |
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HPO |
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MIM:619055 |
NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956
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G |
RNF168 |
ring finger protein 168 |
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IAGP |
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HPO |
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ORPHA:420741 |
NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
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G |
SPARC |
secreted protein acidic and cysteine rich |
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IAGP |
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HPO |
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MIM:616507 |
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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G |
F10 |
coagulation factor X |
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IAGP |
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HPO |
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MIM:227600 ORPHA:328 |
NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
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G |
F11 |
coagulation factor XI |
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IAGP |
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HPO |
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ORPHA:329 |
NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
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G |
F13A1 |
coagulation factor XIII A chain |
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IAGP |
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HPO |
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MIM:613225 ORPHA:331 |
NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013
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G |
F13B |
coagulation factor XIII B chain |
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IAGP |
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HPO |
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ORPHA:331 |
NCBI chr 1:197,038,741...197,067,260
Ensembl chr 1:197,038,741...197,067,260
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G |
F2 |
coagulation factor II, thrombin |
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IAGP |
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HPO |
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MIM:613679 ORPHA:325 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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G |
F5 |
coagulation factor V |
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IAGP |
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HPO |
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ORPHA:326 |
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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G |
F7 |
coagulation factor VII |
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IAGP |
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HPO |
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MIM:227500 ORPHA:327 |
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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G |
F8 |
coagulation factor VIII |
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IAGP |
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HPO |
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MIM:306700 ORPHA:169802 ORPHA:169805 ORPHA:177926 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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G |
F9 |
coagulation factor IX |
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IAGP |
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HPO |
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MIM:306900 |
NCBI chr X:139,530,739...139,563,459
Ensembl chr X:139,530,739...139,563,459
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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 |
LMAN1 |
lectin, mannose binding 1 |
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IAGP |
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HPO |
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ORPHA:35909 |
NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
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G |
MCFD2 |
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit |
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IAGP |
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HPO |
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ORPHA:35909 |
NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855
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G |
PLAU |
plasminogen activator, urokinase |
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IAGP |
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HPO |
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MIM:601709 |
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G |
SERPINE1 |
serpin family E member 1 |
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IAGP |
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HPO |
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ORPHA:465 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SERPINF2 |
serpin family F member 2 |
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IAGP |
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HPO |
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MIM:262850 ORPHA:79 |
NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265
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G |
VWF |
von Willebrand factor |
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IAGP |
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HPO |
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MIM:193400 MIM:277480 |
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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G |
WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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MIM:313900 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
APOE |
apolipoprotein E |
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IAGP |
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HPO |
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MIM:603075 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
CFH |
complement factor H |
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IAGP |
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HPO |
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ORPHA:75376 |
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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G |
CFHR1 |
complement factor H related 1 |
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IAGP |
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HPO |
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MIM:603075 |
NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
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G |
CFHR3 |
complement factor H related 3 |
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IAGP |
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HPO |
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MIM:603075 |
NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
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G |
CFI |
complement factor I |
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IAGP |
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HPO |
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ORPHA:75376 |
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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G |
EFEMP1 |
EGF containing fibulin extracellular matrix protein 1 |
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IAGP |
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HPO |
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ORPHA:75376 |
NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
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G |
HMCN1 |
hemicentin 1 |
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IAGP |
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HPO |
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MIM:603075 |
NCBI chr 1:185,734,391...186,190,949
Ensembl chr 1:185,734,391...186,190,949
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G |
ACVRL1 |
activin A receptor like type 1 |
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IAGP |
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HPO |
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MIM:600376 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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MIM:619182 ORPHA:99818 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
ATRX |
ATRX chromatin remodeler |
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IAGP |
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HPO |
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ORPHA:100075 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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G |
CD109 |
CD109 molecule |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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G |
ENG |
endoglin |
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IAGP |
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HPO |
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MIM:187300 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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G |
F8 |
coagulation factor VIII |
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IAGP |
|
HPO |
|
MIM:306700 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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G |
F9 |
coagulation factor IX |
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IAGP |
|
HPO |
|
MIM:306900 |
NCBI chr X:139,530,739...139,563,459
Ensembl chr X:139,530,739...139,563,459
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G |
FAH |
fumarylacetoacetate hydrolase |
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IAGP |
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HPO |
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MIM:276700 |
NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
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G |
GP1BA |
glycoprotein Ib platelet subunit alpha |
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IAGP |
|
HPO |
|
ORPHA:853 |
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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G |
GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
|
HPO |
|
ORPHA:853 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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G |
ITGA2 |
integrin subunit alpha 2 |
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IAGP |
|
HPO |
|
ORPHA:853 |
NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
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G |
ITGA2B |
integrin subunit alpha 2b |
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IAGP |
|
HPO |
|
ORPHA:853 |
NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
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G |
ITGB3 |
integrin subunit beta 3 |
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IAGP |
|
HPO |
|
ORPHA:853 |
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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G |
KIF23 |
kinesin family member 23 |
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IAGP |
|
HPO |
|
ORPHA:98870 |
NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
|
ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
|
HPO |
|
ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
RACGAP1 |
Rac GTPase activating protein 1 |
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IAGP |
|
HPO |
|
ORPHA:98870 |
NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136
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G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
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IAGP |
|
HPO |
|
MIM:158310 |
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
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G |
WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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MIM:301000 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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F8 |
coagulation factor VIII |
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IAGP |
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HPO |
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MIM:306700 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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CNOT1 |
CCR4-NOT transcription complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Preterm intraventricular hemorrhage |
ClinVar |
PMID:25741868 |
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NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
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COPA |
COPI coat complex subunit alpha |
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IAGP |
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HPO |
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MIM:616414 |
NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
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CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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ENG |
endoglin |
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IAGP |
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HPO |
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MIM:187300 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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SLC35A1 |
solute carrier family 35 member A1 |
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IAGP |
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HPO |
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MIM:603585 ORPHA:238459 |
NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336
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SLC7A7 |
solute carrier family 7 member 7 |
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IAGP |
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HPO |
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MIM:222700 |
NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
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SP110 |
SP110 nuclear body protein |
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IAGP |
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HPO |
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ORPHA:79124 |
NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
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ZNFX1 |
zinc finger NFX1-type containing 1 |
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IAGP |
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HPO |
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MIM:619644 |
NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
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APP |
amyloid beta precursor protein |
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IAGP |
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HPO |
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MIM:605714 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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MIM:130050 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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HLA-DPA1 |
major histocompatibility complex, class II, DP alpha 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
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HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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PRTN3 |
proteinase 3 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:177850 MIM:264800 ORPHA:51608 ORPHA:758 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
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HPO |
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MIM:175780 MIM:180000 MIM:611773 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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DNM2 |
dynamin 2 |
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IAGP |
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HPO |
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MIM:615368 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
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DST |
dystonin |
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IAGP |
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HPO |
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MIM:614653 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 ORPHA:758 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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ORPHA:90324 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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ORPHA:90324 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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ESAM |
endothelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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F2 |
coagulation factor II, thrombin |
no_association |
IAGP |
DNA:SNP: :20210G>A |
RGD |
PMID:14994919 |
RGD:7394774 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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F5 |
coagulation factor V |
onset |
IAGP |
DNA:missense mutation:cds:1691G>A |
RGD |
PMID:16113792 |
RGD:7394778 |
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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GCDH |
glutaryl-CoA dehydrogenase |
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IAGP |
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HPO |
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ORPHA:25 |
NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
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HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
severity |
IAGP |
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 |
RGD |
PMID:8932997 |
RGD:7483573 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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IFNG |
interferon gamma |
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IAGP |
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HPO |
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ORPHA:88 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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MIM:308300 ORPHA:464 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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LAMB2 |
laminin subunit beta 2 |
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IAGP |
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HPO |
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MIM:609049 |
NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
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MMP2 |
matrix metallopeptidase 2 |
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IAGP |
DNA:SNP:promoter:-1306C>T (rs243865) |
RGD |
PMID:23791966 |
RGD:8657048 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MYD88 |
MYD88 innate immune signal transduction adaptor |
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IAGP |
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HPO |
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ORPHA:33226 |
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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PRF1 |
perforin 1 |
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IAGP |
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HPO |
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ORPHA:88 |
NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
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SBDS |
SBDS ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:88 |
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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SERPINE1 |
serpin family E member 1 |
susceptibility |
IAGP |
DNA:deletion:promoter:g.-676_-674delG |
RGD |
PMID:16244763 |
RGD:8547742 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:88 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:88 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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MIM:192315 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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XYLT1 |
xylosyltransferase 1 |
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IAGP |
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HPO |
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MIM:264800 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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XYLT2 |
xylosyltransferase 2 |
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IAGP |
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HPO |
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MIM:264800 |
NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
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ACTA2 |
actin alpha 2, smooth muscle |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
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ACVRL1 |
activin A receptor like type 1 |
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IAGP |
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HPO |
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MIM:600376 ORPHA:774 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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ORPHA:820 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ANGPTL6 |
angiopoietin like 6 |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678
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APP |
amyloid beta precursor protein |
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IAGP |
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HPO |
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MIM:605714 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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CD109 |
CD109 molecule |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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DOCK8 |
dedicator of cytokinesis 8 |
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IAGP |
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HPO |
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MIM:243700 |
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
ENG |
endoglin |
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IAGP |
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HPO |
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MIM:187300 ORPHA:231160 ORPHA:774 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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F10 |
coagulation factor X |
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IAGP |
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HPO |
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ORPHA:328 |
NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529
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G |
FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FOXE3 |
forkhead box E3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
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G |
GAA |
alpha glucosidase |
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IAGP |
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HPO |
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MIM:232300 |
NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
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GDF2 |
growth differentiation factor 2 |
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IAGP |
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HPO |
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ORPHA:774 |
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
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G |
GP1BA |
glycoprotein Ib platelet subunit alpha |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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HEY2 |
hes related family bHLH transcription factor with YRPW motif 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
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ITGA2 |
integrin subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
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ITGA2B |
integrin subunit alpha 2b |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
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ITGB3 |
integrin subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:853 |
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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LOX |
lysyl oxidase |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
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G |
MAT2A |
methionine adenosyltransferase 2A |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
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G |
MFAP5 |
microfibril associated protein 5 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
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G |
MYH11 |
myosin heavy chain 11 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438
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G |
MYLK |
myosin light chain kinase |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
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G |
PRKG1 |
protein kinase cGMP-dependent 1 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP |
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HPO |
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ORPHA:90307 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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G |
SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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MIM:613795 ORPHA:91387 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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G |
SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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ORPHA:774 ORPHA:91387 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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G |
STIM1 |
stromal interaction molecule 1 |
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IAGP |
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HPO |
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MIM:185070 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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G |
TGFB2 |
transforming growth factor beta 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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G |
TGFB3 |
transforming growth factor beta 3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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G |
TGFBR1 |
transforming growth factor beta receptor 1 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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G |
TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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G |
TGFBR3 |
transforming growth factor beta receptor 3 |
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IAGP |
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HPO |
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ORPHA:231160 |
NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335
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G |
THSD1 |
thrombospondin type 1 domain containing 1 |
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IAGP |
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HPO |
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MIM:618734 ORPHA:231160 |
NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
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G |
THSD4 |
thrombospondin type 1 domain containing 4 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383
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G |
ZFX |
zinc finger protein X-linked |
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IAGP |
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HPO |
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MIM:301118 |
NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255
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G |
ARPC1B |
actin related protein 2/3 complex subunit 1B |
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IAGP |
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HPO |
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MIM:617718 |
NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
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G |
ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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MIM:620278 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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G |
BICD2 |
BICD cargo adaptor 2 |
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IAGP |
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HPO |
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MIM:618291 |
NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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G |
DNM2 |
dynamin 2 |
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IAGP |
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HPO |
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MIM:615368 |
NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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ORPHA:90324 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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ORPHA:90324 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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F8 |
coagulation factor VIII |
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IAGP |
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HPO |
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ORPHA:169802 ORPHA:169805 |
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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FGA |
fibrinogen alpha chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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FGB |
fibrinogen beta chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807
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FGG |
fibrinogen gamma chain |
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IAGP |
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HPO |
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MIM:202400 |
NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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GCDH |
glutaryl-CoA dehydrogenase |
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IAGP |
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HPO |
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MIM:231670 ORPHA:25 |
NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126
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ITGA2B |
integrin subunit alpha 2b |
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IAGP |
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HPO |
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MIM:273800 |
NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
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MMACHC |
metabolism of cobalamin associated C |
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IAGP |
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HPO |
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ORPHA:79282 |
NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
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RBM10 |
RNA binding motif protein 10 |
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IAGP |
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HPO |
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MIM:311900 |
NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813
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STT3A |
STT3 oligosaccharyltransferase complex catalytic subunit A |
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IAGP |
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HPO |
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MIM:619714 |
NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215
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ZFX |
zinc finger protein X-linked |
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IAGP |
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HPO |
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MIM:301118 |
NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255
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GSTT1 |
glutathione S-transferase theta 1 |
susceptibility |
IAGP |
DNA:deletion, haplotype:: |
RGD |
PMID:28221473 |
RGD:12792224 |
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ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
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IAGP |
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HPO |
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ORPHA:357074 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
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IAGP |
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HPO |
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ORPHA:357074 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
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IAGP |
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HPO |
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ORPHA:357074 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
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ACE |
angiotensin I converting enzyme |
susceptibility |
IAGP |
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del |
RGD |
PMID:11106834 |
RGD:7829783 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BEST1 |
bestrophin 1 |
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IAGP |
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HPO |
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MIM:193220 |
NCBI chr11:61,949,821...61,965,515
Ensembl chr11:61,950,063...61,965,515
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CAPN5 |
calpain 5 |
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IAGP |
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HPO |
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MIM:193235 |
NCBI chr11:77,066,971...77,126,155
Ensembl chr11:77,066,961...77,126,155
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CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:891 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CYSLTR2 |
cysteinyl leukotriene receptor 2 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
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ESAM |
endothelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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FZD4 |
frizzled class receptor 4 |
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IAGP |
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HPO |
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MIM:133780 ORPHA:891 ORPHA:90050 |
NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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MIM:133780 MIM:601813 ORPHA:891 ORPHA:90050 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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ORPHA:891 ORPHA:90050 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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PROC |
protein C, inactivator of coagulation factors Va and VIIIa |
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IAGP |
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HPO |
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MIM:612304 |
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
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RB1 |
RB transcriptional corepressor 1 |
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IAGP |
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HPO |
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MIM:180200 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RS1 |
retinoschisin 1 |
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IAGP |
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HPO |
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MIM:312700 ORPHA:792 |
NCBI chr X:18,639,688...18,672,108
Ensembl chr X:18,639,688...18,672,108
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SF3B1 |
splicing factor 3b subunit 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
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SMC5 |
structural maintenance of chromosomes 5 |
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IAGP |
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HPO |
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MIM:620185 |
NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873
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TSPAN12 |
tetraspanin 12 |
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IAGP |
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HPO |
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ORPHA:891 |
NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
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ZNF408 |
zinc finger protein 408 |
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IAGP |
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HPO |
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ORPHA:891 |
NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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Term paths to the root
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