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:0004467 | HP:0004467 | Preauricular pit | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 5 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | HP:0040283 - Occasional | | | 3 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:52429 | Branchiootic syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | . | | | 135 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | | | | 493 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 87 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | . | | | 87 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 10 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 37 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | . | | | 37 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 28 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 39 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 257 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | . | | | 257 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 40 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | MITF CL E G H | 4286 | 7105 | OMIM:617306 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | . | | | 91 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | . | | | 90 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 3 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | | | | 31 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:52429 | Branchiootic syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:608389 | Branchiootic syndrome 3 | | | | 50 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:605192 | Deafness, autosomal dominant 23 | HP:0040283 - Occasional | | | 50 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 32 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | . | | | 32 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 31 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | . | | | 31 | | |
HP:0004467 | HP:0004467 | Preauricular pit | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |