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:0030260 | HP:0030260 | Microphallus | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 114 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | . | | | 87 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 2 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 3 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | . | | | 55 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 3 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | . | | | 34 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 6 | | |
HP:0030260 | HP:0030260 | Microphallus | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |