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:0100643 | HP:0100643 | Abnormality of nail color | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | | | | 86 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | | | | 4 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | | | | 747 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | | | | 199 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | | | | 1 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | | | | 46 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:234580 | Heimler syndrome 1 | | | | 169 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:616617 | Heimler syndrome 2 | | | | 98 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | PLCD1 CL E G H | 5333 | 9060 | OMIM:151600 | Nail disorder, nonsyndromic congenital, 3 | | | | 5 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | | | | 171 | | |
HP:0100643 | HP:0100643 | Abnormality of nail color | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | HP:0040283 - Occasional | | | 130 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040282 - Frequent | | | 86 | | |
HP:0100643 | HP:0011367 | Yellow nails | 1 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | . | | | 4 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0100643 | HP:0011367 | Yellow nails | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | HP:0040283 - Occasional | | | 747 | | |
HP:0100643 | HP:0011367 | Yellow nails | 1 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | HP:0040284 - Very rare | | | 20 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | . | | | 199 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0100643 | HP:0100644 | Melanonychia | 1 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:234580 | Heimler syndrome 1 | . | | | 169 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:616617 | Heimler syndrome 2 | . | | | 98 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | PLCD1 CL E G H | 5333 | 9060 | OMIM:151600 | Nail disorder, nonsyndromic congenital, 3 | . | | | 5 | | |
HP:0100643 | HP:0100644 | Melanonychia | 1 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040282 - Frequent | | | 171 | | |
HP:0100643 | HP:0001820 | Leukonychia | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |