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:0000768 | HP:0000768 | Pectus carinatum | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040284 - Very rare | | | 16 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040282 - Frequent | | | 76 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 127 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 38 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | . | | | 7 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | HP:0040283 - Occasional | | | 49 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 276 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040282 - Frequent | | | 242 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 65 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | . | | | 4 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:166100 | Autosomal dominant otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL13A1 CL E G H | 1305 | 2190 | OMIM:616720 | Myasthenic syndrome, congenital, 19 | . | | | 6 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 6 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166100 | Autosomal dominant otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 284 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 284 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | HP:0040284 - Very rare | | | 284 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 3 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:604308 | MASS SYNDROME | | | | 1361 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 1361 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FKBP10 CL E G H | 60681 | 18169 | OMIM:259450 | Bruck syndrome 1 | . | | | 61 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 9 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | HP:0040284 - Very rare | | | 9 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 52 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:63446 | Acrocapitofemoral dysplasia | HP:0040283 - Occasional | | | 44 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | IPO8 CL E G H | 10526 | 9853 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040283 - Occasional | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619599 | EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D | | | | 173 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | . | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:301014 | Osteogenesis imperfecta, type XIX | . | | | 22 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MFAP5 CL E G H | 8076 | 29673 | OMIM:616166 | AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 | | | | 11 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040282 - Frequent | | | 18 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | HP:0040284 - Very rare | | | 166 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | HP:0040284 - Very rare | | | 101 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NKAP CL E G H | 79576 | 29873 | OMIM:301039 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | . | | | 45 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PPIB CL E G H | 5479 | 9255 | OMIM:259440 | Osteogenesis imperfecta, type IX | . | | | 39 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | HP:0040283 - Occasional | | | 22 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 291 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040283 - Occasional | | | 53 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040282 - Frequent | | | 212 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040283 - Occasional | | | 37 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | HP:0040283 - Occasional | | | 65 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 28 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 9 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040283 - Occasional | | | 260 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SOX5 CL E G H | 6660 | 11201 | ORPHA:313892 | Developmental and speech delay due to SOX5 deficiency | HP:0040282 - Frequent | | | 11 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SOX5 CL E G H | 6660 | 11201 | OMIM:616803 | Lamb-Shaffer syndrome | | | | 11 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | . | | | 34 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 4 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | HP:0040283 - Occasional | | | 19 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:60030 | Loeys-Dietz syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | HP:0040282 - Frequent | | | 72 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | HP:0040282 - Frequent | | | 44 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | HP:0040282 - Frequent | | | 37 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040282 - Frequent | | | 171 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040283 - Occasional | | | 214 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | . | | | 214 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040283 - Occasional | | | 1 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | HP:0040282 - Frequent | | | 7 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | . | | | 13 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | | | | 5 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ZDHHC9 CL E G H | 51114 | 18475 | OMIM:300799 | Mental retardation, x-linked syndromic, Raymond type | . | | | 10 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ZEB2 CL E G H | 9839 | 14881 | OMIM:235730 | Mowat-Wilson syndrome | . | | | 362 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000768 | HP:0000768 | Pectus carinatum | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000768 | HP:0000917 | Superior pectus carinatum | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0000768 | HP:0000917 | Superior pectus carinatum | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0000768 | HP:0000917 | Superior pectus carinatum | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | . | | | 1952 | | |
HP:0000768 | HP:0000917 | Superior pectus carinatum | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |