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:0012378 | HP:0012378 | Fatigue | 0 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040282 - Frequent | | | 135 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 51 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 208 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ALAS2 CL E G H | 212 | 397 | ORPHA:75563 | X-linked sideroblastic anemia | HP:0040281 - Very frequent | | | 72 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040282 - Frequent | | | 104 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | | | | 74 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 32 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | HP:0040283 - Occasional | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | . | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATM CL E G H | 472 | 795 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 3267 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040283 - Occasional | | | 100 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | . | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 18 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 5 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 385 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:70567 | Cholangiocarcinoma | HP:0040282 - Frequent | | | 5769 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:70567 | Cholangiocarcinoma | HP:0040282 - Frequent | | | 7642 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 56 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CD244 CL E G H | 51744 | 18171 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040282 - Frequent | | | 169 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 42 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 118 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 5 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040282 - Frequent | | | 5 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 325 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | | | | 110 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | HP:0040281 - Very frequent | | | 99 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 10 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 86 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040282 - Frequent | | | 1496 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 170 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | EPOR CL E G H | 2057 | 3416 | ORPHA:90042 | Primary familial polycythemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 15 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FGF23 CL E G H | 8074 | 3680 | ORPHA:89937 | Autosomal dominant hypophosphatemic rickets | HP:0040282 - Frequent | | | 51 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 111 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 184 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:254704 | Genetic hyperferritinemia without iron overload | HP:0040283 - Occasional | | | 33 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:98827 | Unclassified myelodysplastic syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 87 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 37 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 45 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040281 - Very frequent | | | 200 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040281 - Very frequent | | | 88 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040282 - Frequent | | | 38 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:747 | Autoimmune pulmonary alveolar proteinosis | HP:0040284 - Very rare | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 60 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL10 CL E G H | 3586 | 5962 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | 31 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 46 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | HP:0040282 - Frequent | | | 229 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 127 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040282 - Frequent | | | 57 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040282 - Frequent | | | 327 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040281 - Very frequent | | | 70 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | LRIF1 CL E G H | 55791 | 30299 | OMIM:619477 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | HP:0040281 - Very frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 80 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 281 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MET CL E G H | 4233 | 7029 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040282 - Frequent | | | 375 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 1819 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MMADHC CL E G H | 27249 | 25221 | ORPHA:79283 | Methylmalonic acidemia with homocystinuria, type cblD | HP:0040281 - Very frequent | | | 50 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040282 - Frequent | | | 97 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 2162 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 2232 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 452 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:1880 | Ebstein malformation of the tricuspid valve | HP:0040281 - Very frequent | | | 1269 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 131 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 24 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 101 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NFKBIL1 CL E G H | 4795 | 7800 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 51 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 90 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040281 - Very frequent | | | 217 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 13 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040281 - Very frequent | | | 79 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NR3C1 CL E G H | 2908 | 7978 | OMIM:615962 | Glucocorticoid resistance, generalized | . | | | 79 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040282 - Frequent | | | 214 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040282 - Frequent | | | 337 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | HP:0040283 - Occasional | | | 58 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615399 | Paroxysmal nocturnal hemoglobinuria 2 | . | | | 12 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | HP:0040283 - Occasional | | | 759 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 1121 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PNPLA8 CL E G H | 50640 | 28900 | OMIM:251950 | Mitochondrial myopathy with lactic acidosis | . | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | | | | 10 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 25 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | HP:0040281 - Very frequent | | | 96 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PTPN3 CL E G H | 5774 | 9655 | ORPHA:70567 | Cholangiocarcinoma | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | | | | 125 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 181 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040282 - Frequent | | | 1200 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040283 - Occasional | | | 263 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040282 - Frequent | | | 1134 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:526 | Liddle syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040282 - Frequent | | | 304 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040282 - Frequent | | | 237 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040282 - Frequent | | | 147 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 48 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | . | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:3389 | Tuberculosis | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | . | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC22A4 CL E G H | 6583 | 10968 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 274 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 274 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040282 - Frequent | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC40A1 CL E G H | 30061 | 10909 | OMIM:606069 | Hemochromatosis, type 4 | | | | 56 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | | | | 260 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 53 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040283 - Occasional | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040282 - Frequent | | | 9 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 65 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 20 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | HP:0040281 - Very frequent | | | 57 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 20 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040282 - Frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | . | | | 67 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 253 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | | | | 161 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | | | | 103 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040282 - Frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040282 - Frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 71 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040282 - Frequent | | | 134 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TRHR CL E G H | 7201 | 12299 | OMIM:618573 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7 | | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040283 - Occasional | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 1090 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040283 - Occasional | | | 2738 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | HP:0040281 - Very frequent | | | 97 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95720 | Thyroid hypoplasia | HP:0040281 - Very frequent | | | 97 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 5 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 116 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 63 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 7 | | |
HP:0012378 | HP:0012378 | Fatigue | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0012378 | HP:0033236 | Cognitive fatigue | 1 | CL E G H | | | | | | | | | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040282 - Frequent | | | 74 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 289 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0012378 | HP:0012431 | Episodic fatigue | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 196 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 26 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 1349 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 192 | | |
HP:0012378 | HP:0012431 | Episodic fatigue | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | | | |
HP:0012378 | HP:0012431 | Episodic fatigue | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 504 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 45 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 911 | | |
HP:0012378 | HP:0012432 | Chronic fatigue | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 85 | | |