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:0025068 | HP:0025068 | Incomitant strabismus | 0 | ACKR3 CL E G H | 57007 | 23692 | OMIM:619215 | OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN | | | | | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | | | | 166 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | CHN1 CL E G H | 1123 | 1943 | OMIM:604356 | DUANE RETRACTION SYNDROME 2; DURS2 | | | | 35 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | COL25A1 CL E G H | 84570 | 18603 | OMIM:616219 | Fibrosis of extraocular muscles, congenital, 5 | | | | 3 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:617041 | Duane retraction syndrome 3 with or without deafness | | | | 63 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 214 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | | | | 77 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0025068 | HP:0025068 | Incomitant strabismus | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0025068 | HP:0020042 | Double depressor palsy | 1 | CL E G H | | | | | | | | | | |
HP:0025068 | HP:0020041 | Double elevator palsy | 1 | CL E G H | | | | | | | | | | |
HP:0025068 | HP:0031622 | Brown anomaly | 1 | CL E G H | | | | | | | | | | |
HP:0025068 | HP:0020044 | Horizontal incomitant strabismus | 1 | CL E G H | | | | | | | | | | |
HP:0025068 | HP:0020043 | Vertical incomitant strabismus | 1 | CL E G H | | | | | | | | | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | ACKR3 CL E G H | 57007 | 23692 | OMIM:619215 | OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN | | | | | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300215 | Lissencephaly, X-linked, 2 | . | | | 166 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | CHN1 CL E G H | 1123 | 1943 | OMIM:604356 | DUANE RETRACTION SYNDROME 2; DURS2 | | | | 35 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | COL25A1 CL E G H | 84570 | 18603 | OMIM:616219 | Fibrosis of extraocular muscles, congenital, 5 | | | | 3 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | HOXA1 CL E G H | 3198 | 5099 | OMIM:601536 | ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS | | | | 34 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | MAFB CL E G H | 9935 | 6408 | OMIM:617041 | Duane retraction syndrome 3 with or without deafness | | | | 63 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | HP:0040283 - Occasional | | | 124 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0025068 | HP:0009921 | Duane anomaly | 1 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |