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:0040189 | HP:0040189 | Scaling skin | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:602723 | PSORIASIS 2; PSORS2 | | | | 33 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CASP14 CL E G H | 23581 | 1502 | OMIM:617320 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12 | | | | 1 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | . | | | 4 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | . | | | 7 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CHST8 CL E G H | 64377 | 15993 | OMIM:616265 | Peeling skin syndrome 3 | | | | 1 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | . | | | 4 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 100 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040283 - Occasional | | | 100 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | . | | | 32 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | OSMR CL E G H | 9180 | 8507 | OMIM:105250 | Amyloidosis, primary localized cutaneous, 1 | . | | | 5 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | . | | | 4 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:281127 | Acral self-healing collodion baby | | | | 98 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040281 - Very frequent | | | 98 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 44 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | TGM5 CL E G H | 9333 | 11781 | OMIM:609796 | Peeling skin syndrome, Acral type | . | | | 44 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0040189 | HP:0040189 | Scaling skin | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0040189 | HP:0025526 | Psoriasiform lesion | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0040189 | HP:0040190 | White scaling skin | 1 | CASP14 CL E G H | 23581 | 1502 | OMIM:617320 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12 | | | | 1 | | |
HP:0040189 | HP:0040190 | White scaling skin | 1 | CHST8 CL E G H | 64377 | 15993 | OMIM:616265 | Peeling skin syndrome 3 | . | | | 1 | | |
HP:0040189 | HP:0040190 | White scaling skin | 1 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0040189 | HP:0025524 | Palmoplantar scaling skin | 1 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0040189 | HP:0025526 | Psoriasiform lesion | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0040189 | HP:0025524 | Palmoplantar scaling skin | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040283 - Occasional | | | 100 | | |
HP:0040189 | HP:0025526 | Psoriasiform lesion | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0040189 | HP:0025525 | Scaling skin on fingertip | 1 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0040189 | HP:0025526 | Psoriasiform lesion | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0040189 | HP:0025524 | Palmoplantar scaling skin | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:281127 | Acral self-healing collodion baby | HP:0040281 - Very frequent | | | 98 | | |