Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:602089 | Hemangioma, capillary infantile | . | | | 8 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040283 - Occasional | | | 164 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | | | | 3 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:602089 | Hemangioma, capillary infantile | . | | | 90 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040283 - Occasional | | | 16 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | KDR CL E G H | 3791 | 6307 | OMIM:602089 | Hemangioma, capillary infantile | . | | | 40 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | | | | 88 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | RASA1 CL E G H | 5921 | 9871 | OMIM:608354 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1 | | | | 88 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040282 - Frequent | | | 2 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | . | | | 2 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612713 | Kahrizi syndrome | . | | | 80 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |
HP:0005306 | HP:0005306 | Capillary hemangioma | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0005306 | HP:0500090 | Periocular capillary hemangioma | 1 | CL E G H | | | | | | | | | | |
HP:0005306 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0005306 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040281 - Very frequent | | | 40 | | |
HP:0005306 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0005306 | HP:0000996 | Facial capillary hemangioma | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0005306 | HP:0005954 | Pulmonary capillary hemangiomatosis | 1 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0005306 | HP:0007601 | Midline facial capillary hemangioma | 2 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0005306 | HP:0007452 | Midface capillary hemangioma | 2 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0005306 | HP:0007452 | Midface capillary hemangioma | 2 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0005306 | HP:0007601 | Midline facial capillary hemangioma | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0005306 | HP:0007601 | Midline facial capillary hemangioma | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0005306 | HP:0007466 | Midfrontal capillary hemangioma | 2 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0005306 | HP:0007466 | Midfrontal capillary hemangioma | 2 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040284 - Very rare | | | 76 | | |
HP:0005306 | HP:0007452 | Midface capillary hemangioma | 2 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |