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:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040283 - Occasional | | | 270 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | . | | | 25 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040284 - Very rare | | | 68 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:186200 | Syndactyly, type IV | | | | 106 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:614305 | Sclerosteosis 2 | . | | | 124 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040281 - Very frequent | | | 59 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | HP:0040283 - Occasional | HP:0003577 - Congenital onset | | 120 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | | | | 140 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0010554 | HP:0010554 | Cutaneous finger syndactyly | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | HP:0040283 - Occasional | | | 95 | | |
HP:0010554 | HP:0011939 | 3-4 finger cutaneous syndactyly | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0010554 | HP:0005650 | 2-5 finger cutaneous syndactyly | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:619339 | BARTSOCAS-PAPAS SYNDROME 2; BPS2 | | | | 3 | | |
HP:0010554 | HP:0011939 | 3-4 finger cutaneous syndactyly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0010554 | HP:0011939 | 3-4 finger cutaneous syndactyly | 1 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0010554 | HP:0011939 | 3-4 finger cutaneous syndactyly | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0010554 | HP:0011939 | 3-4 finger cutaneous syndactyly | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0010554 | HP:0006088 | 1-5 finger complete cutaneous syndactyly | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:186200 | Syndactyly, type IV | . | | | 106 | | |
HP:0010554 | HP:0011939 | 3-4 finger cutaneous syndactyly | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |