Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0006714 | HP:0006714 | Aplasia/Hypoplasia of the sternum | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0006714 | HP:0010308 | Asternia | 1 | CL E G H | | | | | | | | | | |
HP:0006714 | HP:0006590 | Premature sternal synostosis | 1 | CL E G H | | | | | | | | | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0006714 | HP:0006628 | Absent sternal ossification | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0006714 | HP:0006628 | Absent sternal ossification | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0006714 | HP:0006628 | Absent sternal ossification | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0006714 | HP:0006628 | Absent sternal ossification | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0006714 | HP:0006628 | Absent sternal ossification | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0006714 | HP:0000879 | Short sternum | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0006714 | HP:0006628 | Absent sternal ossification | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |