Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 639 | 291 | 608222 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 570 | 20893 | 300485 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | HERC2 CL E G H | 8924 | 615516 | Mental retardation, autosomal recessive 38 | 615516 | C3809753 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 620 | 21474 | 613037 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NAT8L CL E G H | 339983 | 614063 | N-acetylaspartate deficiency | 614063 | C3279716 | OMIM | 1 | | 145 | 26742 | 610647 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NDE1 CL E G H | 54820 | 605013 | Microhydranencephaly | 605013 | C1857977 | OMIM | 1 | | 1483 | 17619 | 609449 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NTRK1 CL E G H | 4914 | 256800 | Hereditary insensitivity to pain with anhidrosis | 256800 | C0020074 | OMIM | 1 | | 981 | 8031 | 191315 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1316 | 8582 | 612349 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 61 | 31399 | 610299 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SLITRK1 CL E G H | 114798 | 137580 | Tourette Syndrome | 137580 | C0040517 | OMIM | 1 | | 181 | 20297 | 609678 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | TMEM231 CL E G H | 79583 | 614970 | Joubert syndrome 20 | 614970 | C3554235 | OMIM | 1 | | 341 | 37234 | 614949 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 639 | 291 | 608222 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 570 | 20893 | 300485 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 648 | 2860 | 602858 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | HERC2 CL E G H | 8924 | 615516 | Mental retardation, autosomal recessive 38 | 615516 | C3809753 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 620 | 21474 | 613037 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | MGAT2 CL E G H | 4247 | 212066 | Carbohydrate-deficient glycoprotein syndrome type II | 212066 | C2931008 | OMIM | 1 | | 123 | 7045 | 602616 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 361 | 18704 | 300013 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | NAT8L CL E G H | 339983 | 614063 | N-acetylaspartate deficiency | 614063 | C3279716 | OMIM | 1 | | 145 | 26742 | 610647 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | NDE1 CL E G H | 54820 | 605013 | Microhydranencephaly | 605013 | C1857977 | OMIM | 1 | | 1483 | 17619 | 609449 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | NTRK1 CL E G H | 4914 | 256800 | Hereditary insensitivity to pain with anhidrosis | 256800 | C0020074 | OMIM | 1 | | 981 | 8031 | 191315 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1316 | 8582 | 612349 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 61 | 31399 | 610299 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | SLITRK1 CL E G H | 114798 | 137580 | Tourette Syndrome | 137580 | C0040517 | OMIM | 1 | | 181 | 20297 | 609678 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | TMEM231 CL E G H | 79583 | 614970 | Joubert syndrome 20 | 614970 | C3554235 | OMIM | 1 | | 341 | 37234 | 614949 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | DPYD CL E G H | 1806 | 293948 | | | | ORPHA | 0 | | 379 | 3012 | 612779 |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | TMCO1 CL E G H | 54499 | 213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 213980 | C1859252 | OMIM | 0 | | 65 | 18188 | 614123 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | DPYD CL E G H | 1806 | 293948 | | | | ORPHA | 0 | | 379 | 3012 | 612779 |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | TMCO1 CL E G H | 54499 | 213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 213980 | C1859252 | OMIM | 0 | | 65 | 18188 | 614123 |