241550-254600 --- 268150-300003
| OMIM ID: disease or gene description | Ensembl Peptide ID | OrthoMCL Family | Jaccard Coefficient Cluster |
|---|---|---|---|
| 254770: OMIM phenotype: MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1 Gene map locus 6p12-p11 (link from NCBI) | ENSP00000263044 | ORTHOMCL11730 | jaccard_3377 |
| 254780: OMIM phenotype: MYOCLONIC EPILEPSY OF LAFORA EPILEPSY, PROGRESSIVE MYOCLONIC 2B, INCLUDED; EPM2B, INCLUDED Gene map locus 6q24, 6p22.3 (link from NCBI) | ENSP00000262907 | ORTHOMCL23972 | jaccard_7832 |
| ENSP00000345464 | ORTHOMCL23441 | jaccard_10710 | |
| 254800: OMIM phenotype: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG Gene map locus 21q22.3 (link from NCBI) | ENSP00000291568 | ORTHOMCL8888 | jaccard_1516 |
| 255110: OMIM phenotype: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene map locus 1p32 (link from NCBI) | ENSP00000287862 | ORTHOMCL5753 | jaccard_244 |
| 255120: OMIM phenotype: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Gene map locus 11q13 (link from NCBI) | ENSP00000265641 | ORTHOMCL2479 | jaccard_244 |
| 255310: OMIM phenotype: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 1, INCLUDED; CFTD1, INCLUDED Gene map locus 1q42.1 (link from NCBI) | ENSP00000324452 | ORTHOMCL5299 | jaccard_76 |
| 255700: OMIM phenotype: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE Gene map locus 7q35 (link from NCBI) | ENSP00000339867 | ORTHOMCL12984 | jaccard_243 |
| 255960: OMIM phenotype: MYXOMA, INTRACARDIAC Gene map locus 17q23-q24 (link from NCBI) | ENSP00000351410 | ORTHOMCL869 | jaccard_29 |
| 256000: OMIM phenotype: LEIGH SYNDROME; LS LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED Gene map locus 19p13, 11q13, 11q13, 11p11.11, 10q24, 9q34, 7q31-q32, 5q11.1, 5p15, 2q33 (link from NCBI) | ENSP00000016171 | ORTHOMCL3239 | jaccard_2756 |
| ENSP00000354632 | ORTHOMCL6525 | jaccard_4617 | |
| ENSP00000322450 | ORTHOMCL7287 | jaccard_3134 | |
| ENSP00000233627 | ORTHOMCL4447 | jaccard_2460 | |
| ENSP00000332417 | ORTHOMCL642 | jaccard_782 | |
| ENSP00000224291 | ORTHOMCL3239 | jaccard_2756 | |
| ENSP00000352219 | ORTHOMCL229 | jaccard_594 | |
| ENSP00000277404 | ORTHOMCL5579 | jaccard_4144 | |
| ENSP00000263774 | ORTHOMCL5139 | jaccard_4091 | |
| ENSP00000264932 | ORTHOMCL642 | jaccard_782 | |
| ENSP00000205402 | ORTHOMCL2761 | jaccard_458 | |
| ENSP00000315774 | ORTHOMCL8021 | jaccard_4019 | |
| ENSP00000296684 | ORTHOMCL6213 | jaccard_3989 | |
| 256030: OMIM phenotype: NEMALINE MYOPATHY 2; NEM2 Gene map locus 2q22 (link from NCBI) | ENSP00000324452 | ORTHOMCL5299 | jaccard_76 |
| ENSP00000172853 | ORTHOMCL14686 | jaccard_966 | |
| 256050: OMIM phenotype: NEONATAL OSSEOUS DYSPLASIA I DE LA CHAPELLE DYSPLASIA, INCLUDED Gene map locus 5q32-q33.1 (link from NCBI) | ENSP00000286298 | ORTHOMCL7204 | jaccard_193 |
| 256100: OMIM phenotype: NEPHRONOPHTHISIS 1; NPHP1 Gene map locus 2q13 (link from NCBI) | ENSP00000313169 | ORTHOMCL8245 | jaccard_4965 |
| 256370: OMIM phenotype: NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS Gene map locus 11p13 (link from NCBI) | ENSP00000331327 | ORTHOMCL22335 | jaccard_6860 |
| 256450: OMIM phenotype: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Gene map locus 11p15.1, 11p15.1 (link from NCBI) | ENSP00000345708 | jaccard_224 | |
| ENSP00000303960 | ORTHOMCL2514 | jaccard_44 | |
| 256500: OMIM phenotype: NETHERTON SYNDROME; NETH Gene map locus 5q32 (link from NCBI) | ENSP00000256084 | ORTHOMCL15190 | jaccard_12579 |
| 256540: OMIM gene: NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY BETA-GALACTOSIDASE PROTECTIVE PROTEIN, INCLUDED; PPGB, INCLUDED Gene map locus 20q13.1 (link from Ensembl BioMart) | ENSP00000191018 | ORTHOMCL87 | jaccard_163 |
| ENSP00000346952 | ORTHOMCL87 | jaccard_163 | |
| 256550: OMIM phenotype: NEURAMINIDASE DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED Gene map locus 6p21.3 (link from NCBI) | ENSP00000229725 | ORTHOMCL16751 | jaccard_1734 |
| 256700: OMIM phenotype: NEUROBLASTOMA NEUROBLASTOMA SUPPRESSOR, INCLUDED Gene map locus 17q21.3, 4p12 (link from NCBI) | ENSP00000013034 | ORTHOMCL1481 | jaccard_408 |
| ENSP00000226382 | ORTHOMCL9315 | jaccard_10728 | |
| ENSP00000337060 | ORTHOMCL1481 | jaccard_408 | |
| 256710: OMIM phenotype: ELEJALDE SYNDROME (link from Ensembl BioMart) | ENSP00000351930 | ORTHOMCL90 | jaccard_3 |
| 256730: OMIM phenotype: CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED; INCL, INCLUDED Gene map locus 1p32 (link from NCBI) | ENSP00000253546 | ORTHOMCL2024 | jaccard_1117 |
| 256731: OMIM phenotype: CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED Gene map locus 13q21.1-q32 (link from NCBI) | ENSP00000218990 | ORTHOMCL16074 | jaccard_9807 |
| 256800: OMIM phenotype: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA Gene map locus 1q21-q22 (link from NCBI) | ENSP00000352570 | ORTHOMCL8964 | jaccard_2 |
| ENSP00000351486 | ORTHOMCL8964 | jaccard_2 | |
| 256850: OMIM phenotype: GIANT AXONAL NEUROPATHY 1; GAN1 Gene map locus 16q24.1 (link from NCBI) | ENSP00000248272 | ORTHOMCL14969 | jaccard_49 |
| 257200: OMIM phenotype: NIEMANN-PICK DISEASE, TYPE A Gene map locus 11p15.4-p15.1 (link from NCBI) | ENSP00000340409 | ORTHOMCL6454 | jaccard_1314 |
| ENSP00000299397 | ORTHOMCL6454 | jaccard_1314 | |
| 257220: OMIM phenotype: NIEMANN-PICK DISEASE, TYPE C1; NPC1 NIEMANN-PICK DISEASE, TYPE D, INCLUDED Gene map locus 18q11-q12 (link from NCBI) | ENSP00000269228 | ORTHOMCL1376 | jaccard_272 |
| 257320: OMIM phenotype: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Gene map locus 7q22 (link from NCBI) | ENSP00000345694 | jaccard_4464 | |
| 258100: OMIM phenotype: OGUCHI DISEASE Gene map locus 13q34, 2q37.1 (link from NCBI) | ENSP00000252857 | ORTHOMCL12874 | jaccard_1066 |
| ENSP00000334876 | ORTHOMCL15109 | ||
| 258450: OMIM phenotype: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE (link from Ensembl BioMart) | ENSP00000268124 | ORTHOMCL6276 | jaccard_4616 |
| 258501: OMIM phenotype: 3-@METHYLGLUTACONIC ACIDURIA, TYPE III Gene map locus 19q13.2-q13.3 (link from NCBI) | ENSP00000263275 | ORTHOMCL3507 | jaccard_2725 |
| ENSP00000319817 | ORTHOMCL3507 | jaccard_2725 | |
| 258660: OMIM phenotype: NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO Gene map locus 17pter-p12 (link from NCBI) | ENSP00000329380 | ORTHOMCL20235 | |
| 258870: OMIM gene: ORNITHINE AMINOTRANSFERASE DEFICIENCY ORNITHINE AMINOTRANSFERASE, INCLUDED; OAT, INCLUDED Gene map locus 10q26 (link from Ensembl BioMart) | ENSP00000224242 | ORTHOMCL3538 | jaccard_427 |
| 258900: OMIM gene: OROTIC ACIDURIA I URIDINE MONOPHOSPHATE SYNTHETASE; UMPS, INCLUDED Gene map locus 3q13 (link from Ensembl BioMart) | ENSP00000232607 | ORTHOMCL5545 | jaccard_3856 |
| 259420: OMIM phenotype: OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE Gene map locus 17q21.31-q22, 7q22.1 (link from NCBI) | ENSP00000225964 | ORTHOMCL106 | jaccard_0 |
| ENSP00000297268 | ORTHOMCL106 | jaccard_0 | |
| 259500: OMIM phenotype: OSTEOGENIC SARCOMA Gene map locus 22q12.1, 18q21-q22, 13q14.1-q14.2 (link from NCBI) | ENSP00000329012 | ORTHOMCL3563 | |
| ENSP00000329178 | ORTHOMCL3563 | jaccard_13 | |
| ENSP00000267163 | ORTHOMCL13307 | jaccard_2212 | |
| 259700: OMIM phenotype: OSTEOPETROSIS, AUTOSOMAL RECESSIVE Gene map locus 16p13, 11q13.4-q13.5, 6q21 (link from NCBI) | ENSP00000193322 | ORTHOMCL9594 | jaccard_6048 |
| ENSP00000317205 | |||
| ENSP00000265686 | ORTHOMCL4032 | jaccard_374 | |
| ENSP00000262318 | ORTHOMCL607 | jaccard_243 | |
| 259730: OMIM gene: OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS CARBONIC ANHYDRASE II, INCLUDED; CA2, INCLUDED Gene map locus 8q22 (link from Ensembl BioMart) | ENSP00000285379 | ORTHOMCL302 | jaccard_171 |
| 259770: OMIM phenotype: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG Gene map locus 11q13.4 (link from NCBI) | ENSP00000294304 | ORTHOMCL4085 | jaccard_5 |
| 259900: OMIM phenotype: HYPEROXALURIA, PRIMARY, TYPE I Gene map locus 2q36-q37 (link from NCBI) | ENSP00000302620 | ORTHOMCL5120 | jaccard_3972 |
| 260000: OMIM phenotype: HYPEROXALURIA, PRIMARY, TYPE II Gene map locus 9cen (link from NCBI) | ENSP00000313432 | ORTHOMCL2619 | jaccard_263 |
| 260350: OMIM phenotype: PANCREATIC CARCINOMA Gene map locus 17p13.1, 13q12.3, 12p12.1, 4q32-q34, 3p21.1 (link from NCBI) | ENSP00000256078 | ORTHOMCL19629 | jaccard_8 |
| ENSP00000308495 | ORTHOMCL735 | jaccard_8 | |
| ENSP00000273628 | ORTHOMCL8602 | jaccard_4423 | |
| ENSP00000341551 | ORTHOMCL5850 | jaccard_355 | |
| ENSP00000267071 | ORTHOMCL8430 | ||
| ENSP00000269305 | ORTHOMCL10818 | jaccard_1112 | |
| 260370: OMIM phenotype: PANCREATIC AGENESIS, CONGENITAL Gene map locus 13q12.1 (link from NCBI) | ENSP00000266950 | ORTHOMCL12419 | jaccard_7500 |
| 260400: OMIM phenotype: SHWACHMAN-DIAMOND SYNDROME; SDS Gene map locus 7q11 (link from NCBI) | ENSP00000246868 | ORTHOMCL4754 | jaccard_3164 |
| 260500: OMIM phenotype: PAPILLOMA OF CHOROID PLEXUS (link from Ensembl BioMart) | ENSP00000269305 | ORTHOMCL10818 | jaccard_1112 |
| 260540: OMIM phenotype: PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, INCLUDED Gene map locus 17q21.1 (link from NCBI) | ENSP00000334886 | ORTHOMCL12646 | jaccard_1395 |
| ENSP00000302706 | ORTHOMCL5812 | jaccard_1395 | |
| ENSP00000262410 | ORTHOMCL3214 | ||
| ENSP00000303214 | ORTHOMCL3214 | jaccard_1395 | |
| 260920: OMIM phenotype: HYPER-IgD SYNDROME; HIDS Gene map locus 12q24 (link from NCBI) | ENSP00000228510 | ORTHOMCL2307 | jaccard_2392 |
| 261000: OMIM phenotype: INTRINSIC FACTOR DEFICIENCY; IFD Gene map locus 11q13 (link from NCBI) | ENSP00000257248 | ORTHOMCL22280 | jaccard_4687 |
| 261100: OMIM phenotype: MEGALOBLASTIC ANEMIA 1; MGA1 Gene map locus 14q32, 10p12.1 (link from NCBI) | ENSP00000265929 | ORTHOMCL7433 | jaccard_34 |
| ENSP00000299155 | ORTHOMCL10050 | jaccard_6085 | |
| 261500: OMIM phenotype: PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS Gene map locus 17q23.1 (link from NCBI) | ENSP00000225371 | ORTHOMCL21190 | jaccard_524 |
| 261515: OMIM phenotype: D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene map locus 5q2, 3p23-p22 (link from NCBI) | ENSP00000256216 | ORTHOMCL4990 | jaccard_6656 |
| ENSP00000333664 | ORTHOMCL3567 | jaccard_316 | |
| 261550: OMIM phenotype: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS Gene map locus 19p13.3-p13.2, 12q13 (link from NCBI) | ENSP00000257863 | ORTHOMCL20838 | jaccard_285 |
| ENSP00000221496 | ORTHOMCL20037 | jaccard_6645 | |
| 261600: OMIM gene: PHENYLKETONURIA PHENYLALANINE HYDROXYLASE, INCLUDED; PAH, INCLUDED Gene map locus 12q24.1 (link from Ensembl BioMart) | ENSP00000303500 | ORTHOMCL8351 | jaccard_781 |
| 261630: OMIM gene: PHENYLKETONURIA II QUINOID DIHYDROPTERIDINE REDUCTASE, INCLUDED; QDPR, INCLUDED Gene map locus 4p15.31 (link from Ensembl BioMart) | ENSP00000281243 | ORTHOMCL3991 | jaccard_2078 |
| 261640: OMIM gene: 6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE; PTS PHENYLKETONURIA III, INCLUDED Gene map locus 11q22.3-q23.3 (link from Ensembl BioMart) | ENSP00000280362 | ORTHOMCL8042 | jaccard_4717 |
| 261650: OMIM gene: PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL, INCLUDED (link from Ensembl BioMart) | ENSP00000216780 | ORTHOMCL1212 | jaccard_1328 |
| 261670: OMIM gene: PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF PHOSPHOGLYCERATE MUTASE 2, INCLUDED; PGAM2, INCLUDED Gene map locus 7p13-p12.3 (link from Ensembl BioMart) | ENSP00000297283 | ORTHOMCL1303 | jaccard_720 |
| 261680: OMIM gene: PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC, INCLUDED Gene map locus 20q13.31 (link from Ensembl BioMart) | ENSP00000319814 | ORTHOMCL1212 | jaccard_1328 |
| 261750: OMIM phenotype: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE Gene map locus 16q12-q13 (link from NCBI) | ENSP00000299167 | ORTHOMCL4798 | jaccard_930 |
| ENSP00000313504 | ORTHOMCL4798 | jaccard_930 | |
| 262190: OMIM phenotype: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES Gene map locus 19p13.2 (link from NCBI) | ENSP00000303830 | ORTHOMCL2484 | jaccard_512 |
| 262300: OMIM phenotype: ACHROMATOPSIA 3; ACHM3 Gene map locus 8q21-q22 (link from NCBI) | ENSP00000316605 | ORTHOMCL21864 | jaccard_111 |
| 262400: OMIM phenotype: PITUITARY DWARFISM I ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA, INCLUDED (link from Ensembl BioMart) | ENSP00000320180 | ORTHOMCL22000 | jaccard_59 |
| ENSP00000312673 | ORTHOMCL2118 | jaccard_328 | |
| 262500: OMIM phenotype: PITUITARY DWARFISM II Gene map locus 5p13-p12 (link from NCBI) | ENSP00000348621 | jaccard_14637 | |
| ENSP00000230882 | ORTHOMCL4057 | jaccard_380 | |
| 262600: OMIM phenotype: PITUITARY DWARFISM III PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE, INCLUDED Gene map locus 9q34.3 (link from NCBI) | ENSP00000241587 | ORTHOMCL3722 | jaccard_223 |
| ENSP00000337790 | ORTHOMCL3722 | jaccard_223 | |
| ENSP00000311290 | ORTHOMCL6738 | ||
| ENSP00000295934 | ORTHOMCL21869 | ||
| 262650: OMIM phenotype: PITUITARY DWARFISM IV (link from Ensembl BioMart) | ENSP00000312673 | ORTHOMCL2118 | jaccard_328 |
| 262850: OMIM gene: PLASMIN INHIBITOR DEFICIENCY ALPHA-2-PLASMIN INHIBITOR, INCLUDED; PLI, INCLUDED Gene map locus 17pter-p12 (link from Ensembl BioMart) | ENSP00000321853 | ORTHOMCL9284 | jaccard_51 |
| 263000: OMIM phenotype: PNEUMONITIS, DESQUAMATIVE INTERSTITIAL; DIP INTERSTITIAL LUNG DISEASE, INCLUDED Gene map locus 8p21 (link from NCBI) | ENSP00000316152 | ORTHOMCL16706 | jaccard_9085 |
| 263200: OMIM phenotype: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD HEPATIC FIBROSIS, CONGENITAL, INCLUDED Gene map locus 6p21.1-p12 (link from NCBI) | ENSP00000303577 | ORTHOMCL6515 | jaccard_4374 |
| ENSP00000341097 | ORTHOMCL6515 | jaccard_4374 | |
| 263300: OMIM phenotype: POLYCYTHEMIA VERA Gene map locus 9p24 (link from NCBI) | ENSP00000212292 | ORTHOMCL7844 | jaccard_1095 |
| 263400: OMIM phenotype: ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN Gene map locus 3p26-p25 (link from NCBI) | ENSP00000344757 | ORTHOMCL9227 | jaccard_5230 |
| ENSP00000256474 | ORTHOMCL9227 | jaccard_5230 | |
| 263570: OMIM phenotype: POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD (link from Ensembl BioMart) | ENSP00000264326 | ORTHOMCL1556 | jaccard_1690 |
| 263700: OMIM phenotype: PORPHYRIA, CONGENITAL ERYTHROPOIETIC Gene map locus 10q25.2-q26.3 (link from NCBI) | ENSP00000344508 | ORTHOMCL6782 | jaccard_4016 |
| 263800: OMIM phenotype: GITELMAN SYNDROME Gene map locus 16q13 (link from NCBI) | ENSP00000262502 | ORTHOMCL1286 | jaccard_287 |
| 264070: OMIM phenotype: HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA Gene map locus 10q22 (link from NCBI) | ENSP00000299299 | ORTHOMCL8300 | jaccard_2823 |
| 264300: OMIM phenotype: 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED Gene map locus 9q22 (link from NCBI) | ENSP00000253260 | ORTHOMCL11849 | jaccard_21 |
| 264350: OMIM phenotype: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1 Gene map locus 16p13-p12, 16p13-p12, 12p13 (link from NCBI) | ENSP00000302874 | ORTHOMCL656 | jaccard_211 |
| ENSP00000228916 | ORTHOMCL656 | jaccard_211 | |
| ENSP00000300061 | ORTHOMCL656 | jaccard_211 | |
| ENSP00000345751 | ORTHOMCL656 | jaccard_211 | |
| 264470: OMIM phenotype: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY Gene map locus 17q25 (link from NCBI) | ENSP00000301608 | ORTHOMCL816 | jaccard_492 |
| ENSP00000293217 | ORTHOMCL816 | jaccard_492 | |
| 264600: OMIM phenotype: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH Gene map locus 2p23 (link from NCBI) | ENSP00000233139 | ORTHOMCL12856 | jaccard_587 |
| 264700: OMIM phenotype: VITAMIN D-DEPENDENT RICKETS, TYPE I Gene map locus 12q14 (link from NCBI) | ENSP00000228606 | ORTHOMCL573 | jaccard_9 |
| 264800: OMIM phenotype: PSEUDOXANTHOMA ELASTICUM; PXE Gene map locus 16p13.1 (link from NCBI) | ENSP00000205557 | ORTHOMCL102 | jaccard_44 |
| 264900: OMIM gene: PTA DEFICIENCY COAGULATION FACTOR XI, INCLUDED; F11, INCLUDED Gene map locus 4q35 (link from Ensembl BioMart) | ENSP00000264691 | ORTHOMCL13741 | jaccard_13111 |
| ENSP00000264692 | ORTHOMCL13741 | jaccard_13111 | |
| 265120: OMIM phenotype: PULMONARY ALVEOLAR PROTEINOSIS PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, INCLUDED Gene map locus 22q12.2-q13.1, 8p21, 2p12-p11.2 (link from NCBI) | ENSP00000345161 | ORTHOMCL16557 | jaccard_1979 |
| ENSP00000262825 | ORTHOMCL15747 | jaccard_1742 | |
| ENSP00000316152 | ORTHOMCL16706 | jaccard_9085 | |
| 265800: OMIM phenotype: PYCNODYSOSTOSIS Gene map locus 1q21 (link from NCBI) | ENSP00000271651 | ORTHOMCL15240 | jaccard_73 |
| 266120: OMIM phenotype: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO Gene map locus 7p15-p14 (link from NCBI) | ENSP00000242210 | ORTHOMCL5157 | jaccard_2137 |
| 266130: OMIM phenotype: GLUTATHIONE SYNTHETASE DEFICIENCY Gene map locus 20q11.2 (link from NCBI) | ENSP00000216951 | ORTHOMCL2378 | jaccard_2486 |
| 266140: OMIM phenotype: PYROPOIKILOCYTOSIS, HEREDITARY; HPP (link from Ensembl BioMart) | ENSP00000345259 | ORTHOMCL925 | jaccard_63 |
| 266150: OMIM phenotype: PYRUVATE CARBOXYLASE DEFICIENCY Gene map locus 11q13.4-q13.5 (link from NCBI) | ENSP00000347900 | ORTHOMCL883 | jaccard_565 |
| 266200: OMIM phenotype: PYRUVATE KINASE DEFICIENCY OF RED CELLS Gene map locus 1q21 (link from NCBI) | ENSP00000339933 | ORTHOMCL513 | jaccard_527 |
| ENSP00000271946 | ORTHOMCL513 | jaccard_527 | |
| 266265: OMIM phenotype: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc Gene map locus 11p11.2 (link from NCBI) | ENSP00000313318 | ORTHOMCL6726 | jaccard_181 |
| 266280: OMIM phenotype: RAPADILINO SYNDROME Gene map locus 8q24.3 (link from NCBI) | ENSP00000301323 | ORTHOMCL7681 | jaccard_7355 |
| 266500: OMIM phenotype: REFSUM DISEASE Gene map locus 10pter-p11.2, 6q22-q24 (link from NCBI) | ENSP00000315680 | ORTHOMCL7529 | jaccard_17 |
| ENSP00000263038 | ORTHOMCL12296 | jaccard_2080 | |
| 266510: OMIM phenotype: REFSUM DISEASE, INFANTILE FORM Gene map locus 22q11.21, 8q21.1, 7q21-q22 (link from NCBI) | ENSP00000331106 | ORTHOMCL7688 | jaccard_5264 |
| ENSP00000248633 | ORTHOMCL3950 | jaccard_9650 | |
| ENSP00000349543 | ORTHOMCL2945 | jaccard_2715 | |
| 266600: OMIM phenotype: INFLAMMATORY BOWEL DISEASE 1; IBD1 Gene map locus 19p13, 16q12, 16p, 14q11-q12, 12p13.2-q24.1, 10q23, 6p, 5q31, 3p26, 1p36 (link from NCBI) | ENSP00000200652 | ORTHOMCL19837 | jaccard_26 |
| ENSP00000300589 | ORTHOMCL11179 | jaccard_190 | |
| ENSP00000318295 | ORTHOMCL2798 | jaccard_33 | |
| ENSP00000259152 | ORTHOMCL12190 | jaccard_1833 | |
| ENSP00000245407 | ORTHOMCL16226 | jaccard_26 | |
| 266900: OMIM phenotype: SENIOR-LOKEN SYNDROME SENIOR-LOKEN SYNDROME 1, INCLUDED; SLSN1, INCLUDED Gene map locus 2q13 (link from NCBI) | ENSP00000313169 | ORTHOMCL8245 | jaccard_4965 |
| 267300: OMIM phenotype: RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Gene map locus 2cen-q13 (link from NCBI) | ENSP00000234396 | ORTHOMCL17883 | jaccard_286 |
| 267430: OMIM phenotype: RENAL TUBULAR DYSGENESIS; RTD Gene map locus 1q42-q43, 17q23, 1q32, 3q21-q25 (link from NCBI) | ENSP00000258224 | ORTHOMCL10491 | jaccard_51 |
| ENSP00000290866 | ORTHOMCL2972 | jaccard_1527 | |
| ENSP00000290863 | ORTHOMCL2972 | jaccard_1527 | |
| ENSP00000273430 | ORTHOMCL7602 | jaccard_6 | |
| 267450: OMIM phenotype: RESPIRATORY DISTRESS SYNDROME; RDS SURFACTANT DEFICIENCY, NEONATAL, INCLUDED Gene map locus 16p13.3 (link from NCBI) | ENSP00000301732 | ORTHOMCL110 | jaccard_161 |
| 267750: OMIM phenotype: KNOBLOCH SYNDROME; KNO Gene map locus 21q22.3 (link from NCBI) | ENSP00000339118 | ORTHOMCL7089 | jaccard_0 |
| ENSP00000347665 | ORTHOMCL7089 | jaccard_0 | |
| 268000: OMIM phenotype: RETINITIS PIGMENTOSA; RP Gene map locus 19q13.3, 1q41, 16q13, 15q26, 15q23, 2q14.1 (link from NCBI) | ENSP00000277780 | ORTHOMCL8935 | jaccard_6 |
| ENSP00000255622 | ORTHOMCL2928 | jaccard_67 | |
| ENSP00000295408 | ORTHOMCL17409 | jaccard_10530 | |
| ENSP00000268125 | ORTHOMCL8645 | jaccard_121 | |
| ENSP00000251102 | ORTHOMCL6948 | ||
| ENSP00000296271 | ORTHOMCL16627 | jaccard_6 | |
| ENSP00000317199 | ORTHOMCL5144 | jaccard_18 | |
| ENSP00000354915 | ORTHOMCL4543 | jaccard_5 | |
| ENSP00000305941 | ORTHOMCL8256 | jaccard_2 | |
| ENSP00000278833 | ORTHOMCL18559 | jaccard_2619 | |
| ENSP00000297157 | ORTHOMCL17377 | jaccard_12442 | |
| ENSP00000264099 | ORTHOMCL8256 | jaccard_5 | |
| ENSP00000352427 | ORTHOMCL11804 | jaccard_7000 | |
| ENSP00000221996 | ORTHOMCL18833 | jaccard_5599 | |
| ENSP00000351320 | ORTHOMCL5181 | jaccard_111 | |
| ENSP00000255266 | ORTHOMCL2928 | jaccard_67 | |
| ENSP00000230381 | ORTHOMCL9684 | jaccard_2619 | |
| 268100: OMIM phenotype: ENHANCED S-CONE SYNDROME; ESCS GOLDMANN-FAVRE SYNDROME, INCLUDED Gene map locus 15q23 (link from NCBI) | ENSP00000317199 | ORTHOMCL5144 | jaccard_18 |