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:0000742 | HP:0000742 | Self-mutilation | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | | | | 1 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040282 - Frequent | | | 6 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:293948 | 1p21.3 microdeletion syndrome | HP:0040283 - Occasional | | | 144 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040281 - Very frequent | | | 97 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SLC6A8 CL E G H | 6535 | 11055 | ORPHA:52503 | X-linked creatine transporter deficiency | HP:0040282 - Frequent | | | 122 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040282 - Frequent | | | 33 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0000742 | HP:0000742 | Self-mutilation | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0000742 | HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |