| Swiss-Prot Accession Number | MIM Number | MeSH Unique Identifier | MeSH Heading | Score |
|---|
| O00116 | 600121 | D018902 | chondrodysplasia punctata, rhizomelic | 4.51799434341882 |
| O00142 | 609560 | D017240 | mitochondrial myopathies | -1.07637989171772 |
| O00165 | 610738 | D000380 | agranulocytosis | 2.63739705964813 |
| O00170 | - | D010911 | pituitary neoplasms | 2.98206552448654 |
| O00192 | - | D004062 | digeorge syndrome | exact |
| O00203 | 608233 203300 | D022861 | hermanski-pudlak syndrome | exact |
| O00217 | 256000 | D007888 | leigh disease | exact |
| O00253 | 601665 | D009765 | obesity | exact |
| O00255 | 131100 | D018761 | multiple endocrine neoplasia type 1 | exact |
| O00255 | 145000 | D006961 / D010282 | hyperparathyroidism / parathyroid neoplasms | -2.23962904623455 / 4.81795303089275 |
| O00287 | 209920 | D016511 | severe combined immunodeficiency | exact |
| O00294 | 600132 | D012174 | retinitis pigmentosa | 3.46942749164458 |
| O00300 | 239000 | D010001 | osteitis deformans | -0.473825919945487 |
| O00305 | 600669 | D004829 | epilepsy, generalized | 3.11259367809365 |
| O00305 | 606904 | D020190 | myoclonic epilepsy, juvenile | exact |
| O00425 | - | D002277 | carcinoma | -1.27287059546172 |
| O00462 | - | D010523 | peripheral nervous system diseases | -1.88791466926095 |
| O00462 | 248510 | D044905 | beta-mannosidosis | exact |
| O00507 | 415000 | D053713 | azoospermia | -2.27980843360295 |
| O00512 | - | D015456 | leukemia, mixed-cell | 1.4389797606945 |
| O00522 | 116860 | D020786 / D006392 | hemangioma, cavernous, central nervous system / hemangioma, cavernous | -2.34359769161866 / 5.90639510334001 |
| O00555 | 183086 | D020754 | spinocerebellar ataxias | exact |
| O00555 | 141500 | D020325 | migraine with aura | exact |
| O00555 | 108500 | D020754 | spinocerebellar ataxias | -1.7930892189747 |
| O00559 | - | D001943 | breast neoplasms | -0.892756447976702 |
| O00623 | 214100 | D015211 | zellweger syndrome | exact |
| O00628 | 215100 | D018902 | chondrodysplasia punctata, rhizomelic | 7.44882270413786 |
| O00628 | 266500 | D012035 | refsum disease | exact |
| O00754 | 248500 | D008363 | alpha-mannosidosis | exact |
| O00755 | 276820 | D004480 | ectromelia | -1.9439866168541 |
| O14521 | 168000 | D010235 | paraganglioma | exact |
| O14521 | 171300 | D010673 | pheochromocytoma | exact |
| O14521 | 114900 | D002276 | carcinoid tumor | 3.67609385900666 |
| O14543 | 605805 | D003876 | dermatitis, atopic | 4.74731197994585 |
| O14582 | 313400 | D010009 | osteochondrodysplasias | 4.04093238242959 |
| O14593 | 209920 | D016511 | severe combined immunodeficiency | exact |
| O14656 | 128100 | D004422 | dystonia musculorum deformans | 8.54510543871918 |
| O14662 | 603233 | D011547 | pseudohypoparathyroidism | -1.79395536550144 |
| O14763 | 275355 | D002294 | carcinoma, squamous cell | 1.29152651980015 |
| O14773 | 204500 | D009472 | neuronal ceroid-lipofuscinoses | exact |
| O14810 | - | D010300 | parkinson disease | exact |
| O14832 | 266500 | D012035 | refsum disease | exact |
| O14836 | 240500 | D017074 | common variable immunodeficiency | exact |
| O14896 | 119500 | D011625 | pterygium | -1.76254644477949 |
| O14901 | 610508 606391 | D003924 | diabetes mellitus, type 2 | exact |
| O14926 | 607921 | D012174 | retinitis pigmentosa | 3.31420630086164 |
| O14958 | 604772 | D017180 | tachycardia, ventricular | -2.14086407579149 |
| O15020 | 600224 | D020754 | spinocerebellar ataxias | exact |
| O15055 | 604348 | D020178 | sleep disorders, circadian rhythm | 7.040678663151 |
| O15078 | - | D016410 | lymphoma, t-cell, cutaneous | exact |
| O15118 | 257220 | D052536 / D052556 | niemann-pick disease, type a / niemann-pick disease, type c | 3.18512826808075 / exact |
| O15118 | 257220 | D052556 | niemann-pick disease, type c | exact |
| O15120 | 608594 | D052497 | lipodystrophy, congenital generalized | exact |
| O15146 | - | D020294 | myasthenic syndromes, congenital | 2.03576885177875 |
| O15164 | 188550 | D002291 | carcinoma, papillary | 3.4424308069019 |
| O15169 | 114550 | D006528 | carcinoma, hepatocellular | exact |
| O15178 | 182940 | D009436 | neural tube defects | exact |
| O15228 | 222765 | D018902 | chondrodysplasia punctata, rhizomelic | 4.63168723423471 |
| O15232 | 607078 | D010009 | osteochondrodysplasias | 5.31375614139795 |
| O15232 | 607850 | D010003 | osteoarthritis | 1.02290184480656 |
| O15259 | 256100 | D020734 | parkinsonian disorders | -2.42353278963974 |
| O15259 | 266900 | D015792 | retinal dysplasia | -0.776911957260617 |
| O15265 | 164500 | D020754 | spinocerebellar ataxias | exact |
| O15266 | 127300 | D008069 | lipomatosis, multiple symmetrical | -1.06331794766995 |
| O15269 | 162400 | D009477 / D002607 | hereditary sensory and autonomic neuropathies / charcot-marie-tooth disease | 4.73522600882901 / 5.01856058095501 |
| O15273 | 192600 | D024741 | cardiomyopathy, hypertrophic, familial | exact |
| O15273 | 601954 | D049288 | muscular dystrophies, limb-girdle | 2.85137522959833 |
| O15273 | 607487 | D002311 | cardiomyopathy, dilated | 1.73448321138946 |
| O15287 | 227650 | D005199 | fanconi anemia | exact |
| O15305 | 212065 | D018981 | carbohydrate-deficient glycoprotein syndrome | 3.99441938629333 |
| O15315 | - | D007889 | leiomyoma | 1.09293327265567 |
| O15344 | 300000 | D019082 / D053632 | smith-lemli-opitz syndrome / x-linked combined immunodeficiency diseases | -0.481329123329771 / -0.184608218412302 |
| O15350 | - | D009369 | neoplasms | -1.05114052514487 |
| O15360 | 227650 | D005199 | fanconi anemia | exact |
| O15409 | 602081 | D007805 / D001072 | language development disorders / apraxias | 1.27045456822331 / 5.57563673614132 |
| O15499 | - | D004062 | digeorge syndrome | 2.25845877406531 |
| O15527 | - | D009369 | neoplasms | -1.64725631865348 |
| O15527 | 144700 | D002292 | carcinoma, renal cell | exact |
| O15528 | 264700 | D053098 | hypophosphatemic rickets, x-linked dominant | -0.493810118971547 |
| O15537 | 312700 | D041441 | retinoschisis | 6.70339721571125 |
| O15553 | 249100 | D010505 | familial mediterranean fever | exact |
| O15553 | 134610 | D010505 | familial mediterranean fever | 3.27783179337005 |
| O43181 | 252010 | D028361 | mitochondrial diseases | 3.48654516268259 |
| O43186 | 204000 602225 | D001766 | blindness | -2.41211670188054 |
| O43186 | 120970 | D012174 | retinitis pigmentosa | exact |
| O43186 | 268000 | D012174 | retinitis pigmentosa | exact |
| O43272 | 600850 181500 | D012559 | schizophrenia | exact |
| O43295 | - | D008607 | mental retardation | -1.90159316931268 |
| O43307 | 300607 149400 | D016750 | stiff-person syndrome | 6.4222726824933 |
| O43323 | 607080 | D006061 | gonadal dysgenesis, 46,xy | -1.57620074662308 |
| O43395 | 601414 | D012174 | retinitis pigmentosa | 3.16816593006434 |
| O43405 | 156000 | D008575 | meniere's disease | exact |
| O43464 | 610297 168600 | D010300 | parkinson disease | exact |
| O43490 | 604365 | D012162 | retinal degeneration | -2.18336179099654 |
| O43511 | 274600 | D006042 | goiter | 1.59293327265567 |
| O43520 | 211600 | D002780 | cholestasis, intrahepatic | 4.41990370285314 |
| O43520 | 243300 | D002780 | cholestasis, intrahepatic | 1.13079506546235 |
| O43520 | 147480 | D002780 | cholestasis, intrahepatic | 4.78278957612661 |
| O43524 | - | D015447 | leukemia, lymphocytic, acute | -1.23455881925638 |
| O43525 | 121201 | D020936 | epilepsy, benign neonatal | 6.34574398571579 |
| O43526 | 121200 | D020936 | epilepsy, benign neonatal | 6.40914984481069 |
| O43526 | 606437 | D020936 | epilepsy, benign neonatal | 5.42523695968196 |
| O43542 | - | D008545 | melanoma | 3.88948703942647 |
| O43556 | 159900 | D009207 / D004421 | myoclonus / dystonia | 0.541708004093818 / -0.113902958761406 |
| O43602 | 300067 | D016114 | ichthyosis, x-linked | -2.41917853991304 |
| O43612 | 161400 | D009290 / D002385 | narcolepsy / cataplexy | exact / exact |
| O43623 | - | D009436 | neural tube defects | exact |
| O43623 | 608890 193500 | D014849 | waardenburg's syndrome | 0.678021719672773 |
| O43683 | - | D009369 | neoplasms | -1.64725631865348 |
| O43707 | - | D009362 | neoplasm metastasis | 2.72697824428557 |
| O43707 | 603278 | D005923 | glomerulosclerosis, focal segmental | exact |
| O43709 | 194050 | D018980 | williams syndrome | exact |
| O43819 | 604377 220110 | D030401 | cytochrome-c oxidase deficiency | exact |
| O43826 | 232220 | D005953 / D006008 | glycogen storage disease type i / glycogen storage disease | 2.38345637621233 / 3.81006281428742 |
| O43826 | 232240 | D005953 / D006008 | glycogen storage disease type i / glycogen storage disease | 2.15595567146234 / 3.637093388128 |
| O43826 | 232240 | D005953 / D006008 | glycogen storage disease type i / glycogen storage disease | 2.18345637621233 / 3.637093388128 |
| O43914 | 221770 | D000544 | alzheimer disease | 1.14052344313828 |
| O43918 | 240300 | D016884 | polyendocrinopathies, autoimmune | exact |
| O43930 | - | D012735 | sexual dysfunction, physiological | -2.34162926833566 |
| O43933 | 202370 | D018901 | peroxisomal disorders | exact |
| O43933 | 266510 | D052919 | refsum disease, infantile | exact |
| O60220 | 311150 | D012513 | sarcoma, experimental | -0.351338416808661 |
| O60229 | 608901 | D003327 / D003324 | coronary disease / coronary arteriosclerosis | 2.11939757636375 / 1.78271641191777 |
| O60260 | 168600 | D010300 | parkinson disease | exact |
| O60260 | 600116 | D020734 | parkinsonian disorders | exact |
| O60260 | - | D010051 | ovarian neoplasms | -2.1554623650737 |
| O60312 | 105830 | D017204 | angelman syndrome | exact |
| O60313 | 165500 | D029241 | optic atrophy, autosomal dominant | exact |
| O60313 | 125250 | D029241 | optic atrophy, autosomal dominant | 0.757270877358101 |
| O60333 | 118210 | D002607 / D015417 | charcot-marie-tooth disease / hereditary motor and sensory neuropathies | 3.03516657125508 / 4.22953183327741 |
| O60343 | - | D003876 | dermatitis, atopic | exact |
| O60346 | - | D003110 | colonic neoplasms | exact |
| O60488 | 300387 | D038901 | mental retardation, x-linked | 3.95216648067739 |
| O60494 | 261100 | D000749 | anemia, megaloblastic | 5.17616006721624 |
| O60500 | 256300 | D009404 / D009401 | nephrotic syndrome / nephrosis | -1.86508303253834 / 2.92899049756379 |
| O60566 | - | D009369 | neoplasms | -1.64725631865348 |
| O60602 | 601744 | D008180 | lupus erythematosus, systemic | 3.4773681083266 |
| O60610 | 124900 | D034381 | hearing loss | -2.39374129018224 |
| O60663 | 161200 | D009261 | nail-patella syndrome | exact |
| O60674 | 600880 | D006502 | hepatic vein thrombosis | exact |
| O60674 | 263300 | D011087 | polycythemia vera | exact |
| O60674 | 187950 | D013920 | thrombocythemia, hemorrhagic | exact |
| O60674 | 254450 | D009191 | myelofibrosis | 3.70808208236657 |
| O60674 | 601626 | D007950 | leukemia, myelocytic, acute | exact |
| O60683 | 214100 | D015211 | zellweger syndrome | exact |
| O60683 | 202370 | D018901 | peroxisomal disorders | exact |
| O60687 | 300643 | D038901 | mental retardation, x-linked | -1.71207227168448 |
| O60706 | 608569 | D002311 | cardiomyopathy, dilated | 1.73448321138946 |
| O60733 | 256600 | D019150 | neuroaxonal dystrophies | exact |
| O60779 | 249270 | D000749 | anemia, megaloblastic | -1.85151985899435 |
| O60806 | 201400 | D047748 | pituitary acth hypersecretion | -1.96033094650538 |
| O60828 | 309500 | D038901 | mental retardation, x-linked | 4.15216648067739 |
| O60832 | 305000 | D019871 | dyskeratosis congenita | exact |
| O60840 | 300476 | D012174 | retinitis pigmentosa | 0.955097976986772 |
| O60858 | - | D015451 | leukemia, b-cell, chronic | exact |
| O60861 | - | D007950 | leukemia, myelocytic, acute | 4.54951692806327 |
| O60879 | 300511 | D016649 | ovarian failure, premature | 5.99462799003953 |
| O60880 | 308240 | D008232 | lymphoproliferative disorders | 5.71497396422955 |
| O60882 | 204700 | D000567 | amelogenesis imperfecta | -1.57692150179535 |
| O60890 | 300486 | D038901 | mental retardation, x-linked | 4.37526192416138 |
| O60931 | 219800 219900 219750 | D003554 | cystinosis | exact |
| O60934 | 251260 | D049932 | nijmegen breakage syndrome | exact |
| O60934 | 114480 | D001943 | breast neoplasms | exact |
| O60934 | 609135 | D000741 | anemia, aplastic | exact |
| O60934 | - | D015454 | leukemia, lymphocytic, acute, l1 | exact |
| O60938 | - | D007640 | keratoconus | 0.868482797083103 |
| O75027 | 301310 | D000756 | anemia, sideroblastic | 0.887376341726064 |
| O75030 | 193510 | D014849 | waardenburg's syndrome | -0.373691172937395 |
| O75030 | 103470 | D016117 | albinism, ocular | 0.544838309588166 |
| O75030 | 103500 | D013991 | tietze's syndrome | exact |
| O75072 | 253800 | D009136 | muscular dystrophies | 0.133575041251881 |
| O75072 | 236670 | D015792 | retinal dysplasia | -2.2899137831277 |
| O75078 | - | D010051 | ovarian neoplasms | 2.98268049532772 |
| O75112 | 115200 | D002311 | cardiomyopathy, dilated | exact |
| O75161 | 606996 266900 | D015792 | retinal dysplasia | -0.776911957260617 |
| O75197 | 133780 601813 | D020821 / D012178 | dystonic disorders / retinopathy of prematurity | -2.12382014299548 / exact |
| O75197 | 259770 | D010013 | osteogenesis imperfecta | 1.42580719352241 |
| O75197 | 144750 | D015576 / D010026 | hyperostosis / osteosclerosis | -1.82767591430628 / -0.420982228325784 |
| O75197 | 144750 | D010026 | osteosclerosis | -0.420982228325784 |
| O75197 | 607634 | D010022 / D011546 | osteopetrosis / pseudohypoaldosteronism | -0.748467951318351 / -1.00557706593684 |
| O75251 | 256000 | D007888 | leigh disease | exact |
| O75251 | 252010 | D028361 | mitochondrial diseases | 3.48654516268259 |
| O75306 | 252010 | D028361 | mitochondrial diseases | 3.48654516268259 |
| O75342 | 242100 | D016113 / D017490 | ichthyosiform erythroderma, congenital / ichthyosis, lamellar | 2.34951558019456 / 8.18206058101934 |
| O75344 | 194050 | D018980 | williams syndrome | exact |
| O75360 | 262600 | D007018 | hypopituitarism | exact |
| O75364 | 602669 | D002386 | cataract | 1.18779411402348 |
| O75365 | - | D015179 | colorectal neoplasms | exact |
| O75369 | 108720 | D005870 | giant cell tumors | -0.51832586264023 |
| O75369 | 150250 | D009394 | nephritis, hereditary | -2.11815233473355 |
| O75444 | - | D009101 | multiple myeloma | 4.93847918382014 |
| O75445 | 276901 | D052245 | usher syndromes | 0.648469843015194 |
| O75445 | 268000 | D012174 | retinitis pigmentosa | exact |
| O75503 | 256731 | D009472 | neuronal ceroid-lipofuscinoses | 6.38523518436492 |
| O75558 | 603552 | D051359 | lymphohistiocytosis, hemophagocytic | 6.21994618133606 |
| O75581 | 610947 | D003324 | coronary arteriosclerosis | 0.499070307149148 |
| O75602 | - | D007246 | infertility | -0.590286122820909 |
| O75636 | - | D008180 | lupus erythematosus, systemic | -1.41122092089593 |
| O75665 | 311200 | D009958 | orofaciodigital syndromes | 4.20792464057471 |
| O75665 | 300209 311200 | D009958 | orofaciodigital syndromes | 4.20792464057471 |
| O75695 | 312600 | D012174 | retinitis pigmentosa | 1.86652898298563 |
| O75718 | 610682 | D010013 | osteogenesis imperfecta | 1.63661751885106 |
| O75718 | 610854 | D010013 | osteogenesis imperfecta | 1.27697426541615 |
| O75787 | 300423 | D038901 | mental retardation, x-linked | 5.47852315217222 |
| O75792 | 610333 225750 | D004660 | encephalitis | -2.14884027432034 |
| O75800 | - | D002289 | carcinoma, non-small-cell lung | 2.24284003207922 |
| O75880 | 220110 | D030401 | cytochrome-c oxidase deficiency | exact |
| O75914 | 300558 | D038901 | mental retardation, x-linked | 4.71363746508891 |
| O75923 | 253601 | D049288 | muscular dystrophies, limb-girdle | 4.204964149155 |
| O75923 | 254130 | D049310 | distal myopathies | -0.89089356118266 |
| O75923 | 606768 | D000868 | anterior compartment syndrome | -2.353482499053 |
| O76024 | 222300 | D014929 | wolfram syndrome | exact |
| O76027 | - | D010392 | pemphigus | exact |
| O76039 | 308350 | D013036 | spasms, infantile | 0.884962179277794 |
| O76039 | 312750 | D015518 | rett syndrome | exact |
| O76041 | - | D002311 | cardiomyopathy, dilated | -1.15982366883245 |
| O76082 | 266600 | D003424 | crohn disease | exact |
| O76083 | - | D001714 | bipolar disorder | 2.99630283596713 |
| O76090 | 153700 | D003317 | corneal dystrophies, hereditary | -0.477223953805215 |
| O94761 | 268400 | D011038 | rothmund-thomson syndrome | exact |
| O94761 | 218600 | D003398 | craniosynostoses | -2.30759177484652 |
| O94833 | - | D010391 | pemphigoid, bullous | exact |
| O94915 | - | D015447 | leukemia, lymphocytic, acute | 1.37461500344422 |
| O94972 | 253250 | D050336 | mulibrey nanism | exact |
| O95140 | 609260 | D002607 / D015417 | charcot-marie-tooth disease / hereditary motor and sensory neuropathies | 3.03516657125508 / 4.22953183327741 |
| O95140 | 601152 | D002607 / D015417 | charcot-marie-tooth disease / hereditary motor and sensory neuropathies | 3.88307704479681 / 5.13424422448881 |
| O95163 | 223900 | D004402 | dysautonomia, familial | exact |
| O95255 | 177850 | D011561 | pseudoxanthoma elasticum | 5.71199675080214 |
| O95255 | 264800 | D011561 | pseudoxanthoma elasticum | exact |
| O95278 | 254780 | D020191 / D020192 | myoclonic epilepsies, progressive / lafora disease | 2.76694641728193 / exact |
| O95292 | 608627 | D000690 | amyotrophic lateral sclerosis | 6.00445849813384 |
| O95342 | 601847 | D002780 | cholestasis, intrahepatic | -0.169107357163502 |
| O95342 | 605479 | D002780 | cholestasis, intrahepatic | -0.812966204801999 |
| O95343 | 157170 | D016142 | holoprosencephaly | 2.16622298340068 |
| O95409 | 609637 | D016142 | holoprosencephaly | 1.2983221528844 |
| O95450 | 225410 | D004535 | ehlers-danlos syndrome | 1.52898291585314 |
| O95452 | 129500 | D004476 | ectodermal dysplasia | exact |
| O95461 | 608840 | D009136 | muscular dystrophies | -2.24931843955821 |
| O95467 | 219080 | D003480 | cushing syndrome | -1.87245777468612 |
| O95467 | 603233 | D011547 | pseudohypoparathyroidism | -1.79395536550144 |
| O95477 | 205400 | D013631 | tangier disease | exact |
| O95477 | 604091 | D013631 / D052456 | tangier disease / hypoalphalipoproteinemias | 5.34782704177438 / exact |
| O95631 | - | D009447 | neuroblastoma | 2.54661873943849 |
| O95633 | - | D015451 | leukemia, b-cell, chronic | 5.75667838456512 |
| O95677 | 605362 | D002311 | cardiomyopathy, dilated | 1.92947071162984 |
| O95684 | - | D009196 | myeloproliferative disorders | 0.609720507513883 |
| O95967 | 219100 | D003483 | cutis laxa | 2.81085466105711 |
| O95970 | 600512 | D004833 | epilepsy, temporal lobe | 3.38936175394153 |
| O95972 | 300510 | D016649 | ovarian failure, premature | 5.5966365179248 |
| O95995 | - | D007248 | infertility, male | -1.51774367961544 |
| O95999 | - | D009369 | neoplasms | exact |
| O96017 | 609265 | D016864 | li-fraumeni syndrome | 6.69999176981514 |
| O96017 | 176807 | D011471 | prostatic neoplasms | exact |
| O96017 | 259500 | D012516 | osteosarcoma | exact |
| O96028 | - | D009101 | multiple myeloma | 4.98889067579694 |
| P00156 | 535000 | D029242 | optic atrophy, hereditary, leber | exact |
| P00338 | - | D009212 | myoglobinuria | -0.368482797083103 |
| P00387 | 250800 | D008708 | methemoglobinemia | 3.13922472911024 |
| P00395 | 535000 | D029242 | optic atrophy, hereditary, leber | exact |
| P00395 | - | D000744 | anemia, hemolytic, autoimmune | 0.204860680617326 |
| P00395 | 220110 | D030401 | cytochrome-c oxidase deficiency | exact |
| P00395 | 550500 | D009212 | myoglobinuria | 1.69386507664155 |
| P00403 | - | D009369 | neoplasms | -1.64725631865348 |
| P00414 | 535000 | D029242 | optic atrophy, hereditary, leber | exact |
| P00414 | - | D017241 | melas syndrome | 5.00970127599674 |
| P00414 | 220110 | D030401 | cytochrome-c oxidase deficiency | exact |
| P00414 | 550500 | D009212 | myoglobinuria | 1.69386507664155 |
| P00439 | 261600 | D010661 | phenylketonurias | exact |
| P00439 | 261600 | D010661 | phenylketonurias | exact |
| P00439 | 261600 | D010661 | phenylketonurias | exact |
| P00441 | 105400 | D000690 | amyotrophic lateral sclerosis | 6.81087538647617 |
| P00451 | 306700 | D006467 | hemophilia a | exact |
| P00480 | 311250 | D022124 / D020163 | hyperammonemia / ornithine carbamoyltransferase deficiency disease | -0.469299727667928 / 10.7359524593755 |
| P00488 | 134570 | D005177 | factor xiii deficiency | 2.85314956970842 |
| P00491 | 164050 | D006012 | glycogen storage disease type v | -1.42011126311571 |
| P00492 | 300322 | D007926 | lesch-nyhan syndrome | exact |
| P00492 | 300323 | D006073 | gout | exact |
| P00519 | 608232 | D015464 | leukemia, myeloid, chronic | exact |
| P00533 | 211980 | D008175 | lung neoplasms | exact |
| P00558 | - | D000743 | anemia, hemolytic | 4.06604258324254 |
| P00568 | 103000 | D000743 | anemia, hemolytic | 4.19195705491373 |
| P00734 | 176930 | D007020 | hypoprothrombinemias | exact |
| P00734 | 601367 | D020521 | cerebrovascular accident | exact |
| P00740 | 306900 | D002836 | hemophilia b | exact |
| P00747 | 188050 | D019851 | thrombophilia | exact |
| P00747 | 217090 | D003231 | conjunctivitis | -1.8639602272816 |
| P00748 | 234000 | D005171 / D005175 | factor x deficiency / factor xii deficiency | -1.0539965336839 / exact |
| P00748 | 610618 | D000799 | angioneurotic edema | 1.05718989067856 |
| P00846 | 551500 | D012174 | retinitis pigmentosa | 1.08718562691483 |
| P00846 | 535000 | D029242 | optic atrophy, hereditary, leber | exact |
| P00846 | 256000 | D007888 | leigh disease | exact |
| P00846 | 500003 | D020955 | striatonigral degeneration | 0.846213398154422 |
| P00918 | 259730 | D000141 | acidosis, renal tubular | 4.84833304054306 |
| P00966 | 215700 | D020159 | citrullinemia | exact |
| P00995 | 167800 | D010195 / D050500 | pancreatitis / pancreatitis, chronic | 2.16212657391681 / exact |
| P01008 | 107300 188050 | D020152 | antithrombin iii deficiency | exact |
| P01009 | - | D029424 | pulmonary disease, chronic obstructive | exact |
| P01009 | - | D004198 | disease susceptibility | 1.21647970363805 |
| P01011 | - | D029424 | pulmonary disease, chronic obstructive | exact |
| P01019 | 145500 | D006973 | hypertension | -0.627827437734098 |
| P01031 | 120900 | D008103 | liver cirrhosis | exact |
| P01034 | 105150 | D028226 / D028243 | amyloidosis, familial / cerebral amyloid angiopathy, familial | 0.338952295734033 / exact |
| P01106 | - | D015451 | leukemia, b-cell, chronic | 6.06538328112731 |
| P01111 | 607785 | D015479 | leukemia, myelomonocytic, acute | 0.960874583246403 |
| P01112 | 109800 | D001749 | urinary bladder neoplasms | exact |
| P01112 | - | D002294 | carcinoma, squamous cell | 4.52772362236314 |
| P01116 | 601626 | D007950 | leukemia, myelocytic, acute | exact |
| P01116 | 607785 | D015479 | leukemia, myelomonocytic, acute | 0.960874583246403 |
| P01116 | 609942 163950 | D009634 | noonan syndrome | exact |
| P01116 | - | D009369 | neoplasms | -1.02511715126007 |
| P01124 | - | D002051 | burkitt lymphoma | 5.18756600966134 |
| P01127 | 607907 | D018223 | dermatofibrosarcoma | -0.368482797083102 |
| P01130 | 143890 | D006938 | hyperlipoproteinemia type ii | exact |
| P01137 | 131300 | D003966 | camurati-engelmann syndrome | exact |
| P01138 | 608654 | D009477 / D000699 | hereditary sensory and autonomic neuropathies / pain insensitivity, congenital | exact / exact |
| P01185 | 125700 | D020790 | diabetes insipidus, neurogenic | 7.65344871145922 |
| P01185 | 125700 | D020790 | diabetes insipidus, neurogenic | 7.65344871145922 |
| P01189 | 601665 | D009765 | obesity | exact |
| P01225 | 229070 | D006964 | hyperpituitarism | -1.13217340503033 |
| P01229 | 152780 | D007006 | hypogonadism | exact |
| P01241 | 262400 | D004393 | dwarfism, pituitary | 4.58606284218636 |
| P01241 | 262650 | D004393 | dwarfism, pituitary | 3.86621422363226 |
| P01241 | 173100 | D004393 | dwarfism, pituitary | -0.798774660137663 |
| P01266 | 188450 | D006042 | goiter | 2.11537050131346 |
| P01266 | 608175 | D013959 | thyroid diseases | -1.88993475826045 |
| P01270 | 146200 | |