GENITOURINARY


It has 1018 associated diseases.

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Associated diseases: {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, MULLERIAN APLASIA AND HYPERANDROGENISM, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), VERHEIJ SYNDROME, PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MANNOSIDOSIS, ALPHA-, TYPES I AND II, OTOPALATODIGITAL SYNDROME, TYPE II, SECKEL SYNDROME 2, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, BARDET-BIEDL SYNDROME 16, 46XY SEX REVERSAL 9, MICROPHTHALMIA, SYNDROMIC 6, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, DESMOID DISEASE, HEREDITARY, HERMANSKY-PUDLAK SYNDROME 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, ACRODERMATITIS ENTEROPATHICA, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP P, CARASIL SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, DYSAUTONOMIA, FAMILIAL, CORNELIA DE LANGE SYNDROME 5, HOLOPROSENCEPHALY-9, SICKLE CELL ANEMIA, BRACHIOOTIC SYNDROME 3, ?AL-GAZALI-BAKALINOVA SYNDROME, BOUCHER-NEUHAUSER SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?PROGESTERONE RESISTANCE, GRACILE BONE DYSPLASIA, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), ?MECKEL SYNDROME 9, OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, FILIPPI SYNDROME, RENAL TUBULAR DYSGENESIS, CATEL-MANZKE SYNDROME, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ARTHROGRYPOSIS, DISTAL, TYPE 3, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, MEND SYNDROME, OCCIPITAL HORN SYNDROME, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, HYPOURICEMIA, RENAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, PEUTZ-JEGHERS SYNDROME, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, BENIGN FAMILIAL HEMATURIA, PEROXISOME BIOGENESIS DISORDER 14B, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, FANCONI-BICKEL SYNDROME, NOONAN SYNDROME 8, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FLOATING-HARBOR SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, PRADER-WILLI SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, BORJESON-FORSSMAN-LEHMANN SYNDROME, ACROMELIC FRONTONASAL DYSOSTOSIS, JOUBERT SYNDROME 15, JOUBERT SYNDROME 13, CARPENTER SYNDROME, HAY-WELLS SYNDROME, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {BUDD-CHIARI SYNDROME}, APPARENT MINERALOCORTICOID EXCESS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRICHOHEPATOENTERIC SYNDROME 1, TYROSINEMIA, TYPE I, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ?JOUBERT SYNDROME 22, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CILIARY DYSKINESIA, PRIMARY, 32, UROFACIAL SYNDROME 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ?PREMATURE OVARIAN FAILURE 10, CYSTINURIA, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, OOCYTE MATURATION DEFECT 1, BARDET-BIEDL SYNDROME 17, NEPHRONOPHTHISIS 19, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, SMITH-MAGENIS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, NORUM DISEASE, PLEUROPULMONARY BLASTOMA, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MELNICK-FRASER SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, OVARIAN DYSGENESIS 4, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ABCD SYNDROME, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NEPHRONOPHTHISIS 18, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, MORBID OBESITY AND SPERMATOGENIC FAILURE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, ?SPERMATOGENIC FAILURE 14, OROFACIODIGITAL SYNDROME VI, CAUDAL REGRESSION SYNDROME, CURRARINO SYNDROME, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), UROFACIAL SYNDROME 1, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, ARTHROGRYPOSIS, DISTAL, TYPE 5D, HPRT-RELATED GOUT, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MAY-HEGGLIN ANOMALY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, RENAL GLUCOSURIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 1, JUVENILE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, SMED STRUDWICK TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PERRAULT SYNDROME 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, SILVER-RUSSELL SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, NEPHROLITHIASIS, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, PREGNANCY LOSS, RECURRENT, 4, SPERMATOGENIC FAILURE 4, DEAFNESS, AUTOSOMAL DOMINANT 23, MEIER-GORLIN SYNDROME 1, NATIVE AMERICAN MYOPATHY, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PERRAULT SYNDROME 4, HYPOPHOSPHATASIA, INFANTILE, OROFACIODIGITAL SYNDROME I, LARON DWARFISM, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, JOUBERT SYNDROME 20, GUTTMACHER SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, SESAME SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, PRECOCIOUS PUBERTY, CENTRAL, 2, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, ATAXIA-TELANGIECTASIA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, ?PERRAULT SYNDROME 2, CENANI-LENZ SYNDACTYLY SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, OMODYSPLASIA 1, MECKEL SYNDROME 11, C SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ?ABRUZZO-ERICKSON SYNDROME, CILIARY DYSKINESIA, PRIMARY, 20, SHWACHMAN-DIAMOND SYNDROME, SPERMATOGENIC FAILURE 11, DYSKERATOSIS CONGENITA, X-LINKED, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NOONAN SYNDROME 9, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, ?RENAL HYPODYSPLASIA/APLASIA 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, DENYS-DRASH SYNDROME, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, MARTSOLF SYNDROME, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CARPENTER SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, AMYLOIDOSIS, FINNISH TYPE, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, OLIVER-MCFARLANE SYNDROME, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, MALOUF SYNDROME, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, OROFACIODIGITAL SYNDROME V, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CORTISONE REDUCTASE DEFICIENCY 2, MENTAL RETARDATION, X-LINKED 98, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JOUBERT SYNDROME 10, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?OROFACIAL CLEFT 15, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE II, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, LEIOMYOMATOSIS AND RENAL CELL CANCER, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CRYPTORCHIDISM, FRUCTOSE INTOLERANCE, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, MECKEL SYNDROME 1, SPINOCEREBELLAR ATAXIA 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, NOONAN SYNDROME 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, GLYCEROL KINASE DEFICIENCY, MECKEL SYNDROME 7, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, CHIME SYNDROME, PERLMAN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, 46XY SEX REVERSAL 3, PEPCK DEFICIENCY, MITOCHONDRIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, OPITZ GBBB SYNDROME, TYPE I, IMMUNODEFICIENCY 23, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 2, DOOR SYNDROME, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, NEU-LAXOVA SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOTONIC DYSTROPHY 1, CHOPS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, MEIER-GORLIN SYNDROME 3, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, X-LINKED, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, HOLOPROSENCEPHALY-3, BARDET-BIEDL SYNDROME 5, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, OVARIAN DYSGENESIS 3, LARSEN SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, CILIARY DYSKINESIA, PRIMARY, 26, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ESCOBAR SYNDROME, PIEBALDISM, FACTOR VII DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GITELMAN SYNDROME, LESCH-NYHAN SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), SPERMATOGENIC FAILURE 12, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEPHRONOPHTHISIS 11, MECKEL SYNDROME 3, ?HYDROXYKYNURENINURIA, VAN MALDERGEM SYNDROME 2, JOUBERT SYNDROME 6, SENIOR-LOKEN SYNDROME 9, C4A DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE X, HYDATIDIFORM MOLE, RECURRENT, 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, AGAMMAGLOBULINEMIA, X-LINKED 1, SEA-BLUE HISTIOCYTE DISEASE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, CPT II DEFICIENCY, LETHAL NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LOEYS-DIETZ SYNDROME 4, SECKEL SYNDROME 7, HEMOCHROMATOSIS, TYPE 3, CILIARY DYSKINESIA, PRIMARY, 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CILIARY DYSKINESIA, PRIMARY, 13, DIABETES INSIPIDUS, NEPHROGENIC, BENT BONE DYSPLASIA SYNDROME, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, LATHOSTEROLOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, NEPHROTIC SYNDROME, TYPE 9, DIARRHEA 6, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, PERRAULT SYNDROME 5, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, COCKAYNE SYNDROME, TYPE B, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WILMS TUMOR 2, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, WARBURG MICRO SYNDROME 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, KAUFMAN OCULOCEREBROFACIAL SYNDROME, DENT DISEASE, MENTAL RETARDATION, X-LINKED 93, BETA-UREIDOPROPIONASE DEFICIENCY, SPERMATOGENIC FAILURE 10, KBG SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, PREMATURE OVARIAN FAILURE 5, ?BARDET-BIEDL SYNDROME 19, ELLIS-VAN CREVELD SYNDROME, SENIOR-LOKEN SYNDROME 5, SCALP-EAR-NIPPLE SYNDROME, ABLEPHARON-MACROSTOMIA SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEPHRONOPHTHISIS 2, INFANTILE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, PCWH SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, JOHANSON-BLIZZARD SYNDROME, {WILMS TUMOR SUSCEPTIBILITY-5}, OROTIC ACIDURIA, HARTSFIELD SYNDROME, SPERMATOGENIC FAILURE, X-LINKED, 2, DIGEORGE SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, HMG-COA LYASE DEFICIENCY, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PAROXYSMAL EXTREME PAIN DISORDER, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ENTEROKINASE DEFICIENCY, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, MECKEL SYNDROME 10, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SECKEL SYNDROME 1, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, HAND-FOOT-UTERUS SYNDROME, GALACTOSEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, DEMENTIA, FAMILIAL, NONSPECIFIC, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, YUNIS-VARON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, FANCONI RENOTUBULAR SYNDROME 2, OOCYTE MATURATION DEFECT 2, HYDROLETHALUS SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, LYSINURIC PROTEIN INTOLERANCE, MECKEL SYNDROME 6, AXENFELD-RIEGER SYNDROME, TYPE 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, SERKAL SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, KARTAGENER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, 3-M SYNDROME 1, MENTAL RETARDATION, X-LINKED 45, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, BURN-MCKEOWN SYNDROME, WISKOTT-ALDRICH SYNDROME, NIJMEGEN BREAKAGE SYNDROME, NEPHRONOPHTHISIS 3, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, ?CRANIOECTODERMAL DYSPLASIA 4, GLYCOGEN STORAGE DISEASE XI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, PAGET DISEASE OF BONE 6, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, PREMATURE OVARIAN FAILURE 9, ?JOUBERT SYNDROME 26, FANCONI ANEMIA, COMPLEMENTATION GROUP O, VICI SYNDROME, ALSTROM SYNDROME, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OLMSTED SYNDROME, SPERMATOGENIC FAILURE 3, BERGER DISEASE, SPERMATOGENIC FAILURE, Y-LINKED, 2, JOUBERT SYNDROME 21, ?CHARGE SYNDROME, CHARGE SYNDROME, MECKEL SYNDROME 2, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, COMPLEMENT FACTOR H DEFICIENCY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PROUD SYNDROME, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, ALAGILLE SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AD, 5-OXOPROLINASE DEFICIENCY, MYOPATHY DUE TO CPT II DEFICIENCY, JOUBERT SYNDROME-3, COENZYME Q10 DEFICIENCY, PRIMARY, 1, SPERMATOGENIC FAILURE 9, MEIER-GORLIN SYNDROME 4, ?N SYNDROME, ALPORT SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), NEPHRONOPHTHISIS 15, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, DE SANCTIS-CACCHIONE SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, MCKUSICK-KAUFMAN SYNDROME, LUSCAN-LUMISH SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, MCARDLE DISEASE, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, BARTTER SYNDROME, TYPE 3, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, NEPHROPATHY DUE TO CFHR5 DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, HYPERPROLINEMIA, TYPE I, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, SPERMATOGENIC FAILURE 7, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, LADD SYNDROME, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, NEPHROTIC SYNDROME, TYPE 3, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), POLYCYSTIC KIDNEY AND HEPATIC DISEASE, SPERMATOGENIC FAILURE 8, APERT SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, CILIARY DYSKINESIA, PRIMARY, 29, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 19, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, LYMPHEDEMA, HEREDITARY, ID, NEPHROTIC SYNDROME, TYPE 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, ?OROFACIODIGITAL SYNDROME XIV, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, BLEEDING DISORDER, PLATELET-TYPE, 20, MUCOLIPIDOSIS II ALPHA/BETA, GALLOWAY-MOWAT SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, COACH SYNDROME, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, VESICOURETERAL REFLUX 8, SENIOR-LOKEN SYNDROME 8, LYMPHEDEMA, HEREDITARY, III, BARDET-BIEDL SYNDROME 3, ?HYPERPROLACTINEMIA, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SYSTEMIC LUPUS ERYTHEMATOSUS 16, STROMME SYNDROME, PETERS-PLUS SYNDROME, JOUBERT SYNDROME 16, TRIGONOCEPHALY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, PIERSON SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, BARDET-BIEDL SYNDROME 8, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BARDET-BIEDL SYNDROME 4, MEIER-GORLIN SYNDROME 5, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, RITSCHER-SCHINZEL SYNDROME 1, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, METHEMOGLOBINEMIA, TYPE IV, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PERRAULT SYNDROME 3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, VESICOURETERAL REFLUX 3, BRUCK SYNDROME 2, WHITE SPONGE NEVUS 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JOUBERT SYNDROME 2, ALKAPTONURIA, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 24, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, NEPHRONOPHTHISIS 16, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, COUSIN SYNDROME, GALACTOSIALIDOSIS, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, NEPHRONOPHTHISIS 13, WOODHOUSE-SAKATI SYNDROME, HYPOMAGNESEMIA 2, RENAL, BJORNSTAD SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, HEMOCHROMATOSIS, TYPE 2A, ?LAURENCE-MOON SYNDROME, PREMATURE OVARIAN FAILURE 8, CILIARY DYSKINESIA, PRIMARY, 22, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ?SPERMATOGENIC FAILURE 6, SECKEL SYNDROME 5, BIRT-HOGG-DUBE SYNDROME, JOUBERT SYNDROME 5, RAINE SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, MICROPHTHALMIA, SYNDROMIC 14, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, CALCIUM OXALATE UROLITHIASIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, OPITZ-KAVEGGIA SYNDROME, BARDET-BIEDL SYNDROME 13, METACHROMATIC LEUKODYSTROPHY, SECKEL SYNDROME 9, JOUBERT SYNDROME 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, NEPHRONOPHTHISIS 4, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, HYPOSPADIAS 2, X-LINKED, SCHAAF-YANG SYNDROME, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, 46XY SEX REVERSAL 7, JOUBERT SYNDROME 14, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, RENPENNING SYNDROME, CILIARY DYSKINESIA, PRIMARY, 18, GLYCOGEN STORAGE DISEASE X, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, INTERSTITIAL NEPHRITIS, KARYOMEGALIC, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, MECKEL SYNDROME 5, ANDROGEN INSENSITIVITY, ?SPERMATOGENIC FAILURE 13, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, WEAVER SYNDROME, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GLUCOCORTICOID DEFICIENCY 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, JOUBERT SYNDROME 18, MOWAT-WILSON SYNDROME, UTERINE LEIOMYOMA, NEPHROTIC SYNDROME, TYPE 12, COWDEN SYNDROME 7, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MYOTONIC DYSTROPHY 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BARDET-BIEDL SYNDROME 9, PREIMPLANTATION EMBRYONIC LETHALITY, HAMAMY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BEAULIEU-BOYCOTT-INNES SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SIALURIA, DENT DISEASE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SMITH-KINGSMORE SYNDROME



It has 1018 associated genes.

Show genes

Associated genes: CA2, TSC2, DNA2, TMEM216, EDNRA, WDR73, TCTN3, PRSS1, SPINT2, NPHS2, GP1BA, TBX22, C3AR1, GNAS, CIITA, COL3A1, ATP6V1B1, PHEX, SLC5A2, RBBP8, TP63, EVC2, LRRK2, BBS5, HBB, PTPRO, UBA1, BCOR, CDC6, ZMYND10, IL17RD, B2M, SLC17A5, DNAAF1, KIF7, PTRH2, RAD51C, FH, TBC1D24, PHF8, MED13L, GNPTAB, G6PC, PTCH2, APOPT1, ARSE, FAH, TYROBP, PEX2, SBF1, PHF6, HPSE2, CREBBP, GNE, HGD, DNASE1L3, TRMT5, ETFDH, TRPV3, EVC, IFIH1, ALMS1, SOX2, APOA1, B9D2, NALCN, PTPN22, AR, LONP1, OCRL, RNF216, TMPRSS15, CCDC114, GNRHR, GLI2, BUB1B, BBS9, MTOR, THBD, KCNJ10, TAF6, OPHN1, CTSA, WNT3, MARS2, ORC6, IFNG, CBL, CCND1, DHH, AP2S1, CLEC7A, SLC6A19, RSPH3, MKKS, HSPD1, TAC3, ROR2, FCGR2B, MT-CYB, ABCD4, KRAS, LARS2, PGAM2, FBXL4, ZIC3, ANKRD11, XPNPEP3, PNPLA6, KMT2A, DUSP6, IFT122, DYX1C1, KAT6B, MPLKIP, MT-CO1, MGME1, TAPT1, FANCE, PRODH, TRAF3IP1, PRPS1, SERPINC1, HNF1B, XYLT2, NSDHL, SETD2, PIGY, STAG3, INPP5E, TMCO1, SLC4A1, CEP290, C1R, RAB3GAP1, CRTAP, TNFSF11, FAT4, CTDP1, APC, PCK1, PQBP1, FLRT3, INSL3, CISD2, DBH, NUP107, FLVCR1, RFXAP, MMACHC, RIPK4, CPT2, INPPL1, AIP, ZNF687, PIEZO2, PRKCD, NPHS1, DNAH5, LPL, ZNF423, EZH2, HSD11B2, GLI3, RPGRIP1L, RNU4ATAC, DNAH1, B4GAT1, PEX13, STAMBP, FANCA, HSPA9, ORC1, EFNB1, CTRC, BGLAP, HAMP, ETFB, XDH, KIAA2022, MTM1, COQ9, NANOS1, EYA1, POLA1, HMBS, CUL4B, PIGN, ZFPM2, FGF23, MASP1, PINK1, VPS13C, PIGA, UBE2A, LHCGR, NPHP1, SEC23A, POU6F2, PTPN11, DCDC2, SOS2, MAPRE2, SPINK1, SLC6A20, IFT27, DMPK, SPRY4, MT-CO2, IER3IP1, RBMX, SRD5A2, AKR1C2, BRWD3, ALG1, DNAAF2, LHB, CXCR4, SEC23B, COL4A3, ITGA3, DMXL2, GATA4, KRT13, SNRPN, RAB40AL, HLA-DQB1, NLRP5, SNRPB, ERCC6, CCDC170, RNF113A, CTCF, SOX11, IFNGR1, FANCL, LIPA, ATXN3, ATP7A, SARS2, COX7B, PDSS2, CYP7B1, NR3C1, EXOC8, HRAS, ARHGAP31, ACE, BMPR1A, ACTG2, PRDM5, PEX5, SKI, CCBE1, FSHB, GPI, FAM58A, PARK7, TREX1, IRX5, TRAIP, ORC4, LRRC6, MKS1, TBX18, ACP2, SEMA3E, PTH1R, RAI1, GBA2, DPH1, B3GLCT, CFHR5, ICR1, TNXB, PTDSS1, ESCO2, TTC8, HARS2, ITGA2B, BMP2, SLC2A2, TAF4B, FGA, BAAT, ZBTB20, SPG7, MYO1E, UBE3B, WT1, COL4A5, IKBKAP, PROK2, COX8A, NEK8, SPAG1, CDT1, PKHD1, SOS1, AKR1C4, CYP11B1, CDC73, POR, MEFV, ARHGDIA, USP8, MYH3, PET100, HSD11B1, GNAI2, CUL7, KIF1A, SBDS, FIG4, MCM8, SOX9, KYNU, TGFB2, DNAI2, ALS2, ALDOB, MAP2K2, CLCNKA, B9D1, SRCAP, DPY19L2, DPAGT1, TRPV4, SLC34A3, TMEM231, FAN1, NOTCH1, AGPAT2, WDR19, TTC37, SACS, LDHA, CYB5A, PRKACG, SCARB2, UBR1, AFF4, POC1A, STAR, EHHADH, ESR1, GK, MAFB, CARD9, SCP2, RBM10, CSPP1, C2CD3, LRP5, NRAS, ACTA2, LCAT, ZMPSTE24, ZNF81, HSD3B2, KISS1, STAC3, DYNC2H1, CCDC28B, SLC22A12, WDPCP, CASR, SI, STS, RB1, RAB18, CLCNKB, EPG5, FANCD2, BRAF, SLC26A3, NOBOX, NIN, PIGR, MED12, TMEM70, BBS12, SEPT12, ALPL, SHH, ITGA8, DNAH8, CC2D2A, TREM2, KCNJ5, FLT4, SMAD9, CTNS, GHR, HOXA13, SC5D, RIN2, PEX11B, ITPR3, F5, TGDS, COL4A4, B4GALNT1, CRB2, HMGCL, NDN, FOXP3, KL, KANSL1, NPHP3, FGFR1, SLC26A8, DVL1, MUT, ERBB3, ETFA, EGFR, SOX18, LRP2, TUBB8, SCNN1G, CLIC2, TCTN2, AQP2, BSND, NIPBL, DHCR24, SLC20A2, NIPA1, FREM2, KCNH1, STEAP3, TXNL4A, ITGA6, KIT, DHODH, OCLN, IFT140, PEX1, ARMC4, DLG3, UQCC2, VPS45, C21orf59, KRT8, PAX3, SLC9A6, PACS1, ASXL1, PRKCSH, XYLT1, SLC39A4, HYLS1, GATA6, KMT2D, CFTR, TACR3, ZFYVE26, TSC1, TBCE, PARK2, RFX5, RECQL4, CLUAP1, PLG, TRMT10A, ADCK4, FRAS1, CCDC174, LRP4, ACTN4, ZSWIM6, WDR60, OFD1, PGM3, AGA, FOXF1, FLNB, VPS35, PEX16, TMEM67, STRA6, WNT4, ADA, REEP2, SMAD3, ALDH18A1, HSPG2, CCDC151, EXT2, C10orf2, F10, DCAF17, DICER1, FEZF1, PDE4D, DDX59, F2, PKD1, CASP10, STRADA, SALL1, OPLAH, SCNN1A, F7, DNAAF3, CENPF, HEXB, MUC1, CYP11B2, RPS26, ATP6V1B2, AGT, PMM2, C1QB, LEP, NOTCH3, PPP1R3A, KDM1A, SNCA, WDR35, NPHP4, ERCC8, BTK, MED25, TSPYL1, ZEB2, PDCD1, ECE1, STK11, FGF17, BBIP1, LIPE, SALL4, CDKN1C, PDE6D, NNT, PPP1R15B, LAMB2, KLHL10, FANCM, PIK3CA, GALT, ABCD1, LTBP4, BCS1L, BMPER, DNAI1, TEK, C1QC, ECEL1, NAA10, PRKAG2, NLRP7, GATA3, COL2A1, CHST14, SLC7A9, NF1, RARB, TFR2, EIF2B2, ACTB, GRIP1, SPATA16, TBX15, PLEC, HTR1A, DSP, TWIST2, LZTR1, FAM134B, CLCN5, GPC3, IGF2, ANOS1, PGK1, NOS3, DCLRE1C, KCNJ1, SLC2A9, CAD, GATA2, KIF5A, ADH1C, ATXN10, LMNA, COL1A2, HNRNPK, USP9Y, MSMO1, ADCY10, CEP152, PLOD1, KDM5C, LYZ, SNCAIP, ICK, HSD17B3, TALDO1, KRT16, ANLN, CD44, DSE, C3, UMOD, FKBP14, KIAA0556, ADAMTS2, BBS7, SPRY2, TBX3, GUCY2C, MEGF8, GSC, GP9, COX14, PANK2, WAS, AIRE, HAO1, RPL26, GLIS3, ATRX, PIK3R2, BSCL2, TMEM237, FCGR2A, FAM20C, CHMP2B, ATL1, ITGB3, DDHD2, KIF14, AMHR2, NBAS, KIAA0586, G6PC3, GALNT3, PAX2, LMX1B, HLA-DRB1, YAP1, TBC1D20, NAT8L, MAB21L2, CLP1, GNA11, OTX2, HNF4A, RAPSN, ARL6, SMARCAL1, MKRN3, BRCA1, HFE2, SOX17, STT3B, FN1, CNNM2, INVS, HYDIN, SMS, MNX1, KCTD1, ATP5A1, GUCY1A3, PHGDH, USP9X, CLDN16, ADAMTS13, POLD1, VANGL1, TINF2, PIGO, HNF1A, DNAAF5, H19, ATR, PTEN, FGFR3, SLC9A3R1, GSN, TNNT2, CFH, AMER1, PTPRZ1, TGFB1, EIF2B5, SLC4A4, ABCC6, AHI1, GBE1, SSR4, THOC2, ATXN2, CCNO, SLC40A1, CYP21A2, HDAC8, STUB1, GRHPR, PEX12, DLL4, SPECC1L, EIF2B1, PUF60, BCL10, PRNP, CPT1C, RPS6KA3, TNFAIP3, TBP, DNASE1, MYH9, FGF10, ITGB4, MRPS22, UPK3A, DKC1, NEK1, APOE, TCF4, FSHR, PCNT, BBS1, AMH, TBX1, CBX2, GBA, SYCP3, FASTKD2, WDR11, THOC6, TEX11, DRC1, DNAH11, TRH, PSMC3IP, RIT1, SEMA3A, UPB1, EDNRB, PEX6, POLG, EIF2AK3, GPC6, CEP19, FXYD2, RRM2B, HTRA1, ZP1, IRF6, RSPO1, CD46, SLC12A1, SLC12A3, CYP17A1, KIF1BP, SLC36A2, NSD1, PRDM8, BRCA2, PODXL, IFT43, CD96, IGSF1, DIS3L2, APRT, DNAJC19, CNBP, CHRNG, MAP3K1, ANKS6, DLX4, PIGT, DNM2, MT-CO3, MAPT, EBP, H6PD, SETBP1, STK10, MBTPS2, PPARG, CD19, AGTR1, FAM111A, MCIDAS, PRKAR1A, COG6, NR4A2, KISS1R, ELN, SLC35A2, SOX10, MAN2B1, CCDC103, CLPP, COX6B1, RAB3GAP2, EFEMP2, CLASP1, KCNQ1OT1, SUFU, NEU1, VEGFC, COQ7, IDUA, COX20, SERPINH1, PIGL, ZMYND15, BMP4, BBS2, SNAI2, UNG, REEP1, FGD1, RSPH1, SMAD4, WFS1, VIPAS39, AUH, RXFP2, UMPS, ATIC, BLM, PLCE1, ATP6V0A2, SPAST, ANXA5, PTCH1, WNT7A, PRSS2, DVL3, CHD7, DGKE, CECR1, SETD5, FGFR2, ATXN1, FLCN, EIF2B4, VHL, SLFN14, TLE6, SCNN1B, IFT172, GP1BB, LMNB1, LPIN1, LRIG2, ARSA, SLC34A1, EPHX1, MID1, COQ6, MORC2, LZTFL1, PGR, XRCC4, RTN2, CATSPER1, SCO1, COPA, SDCCAG8, KRT18, CLDN19, HS6ST1, NR0B1, GJC2, C4A, DCHS1, ELOVL4, PRLR, AVPR2, FMR1, FANCC, CCDC22, NR5A1, RTTN, CD81, RSPH4A, NBN, NR3C2, POMT2, SLC19A2, ZBTB16, SF3B4, SLC7A7, PLOD2, PROKR2, TRIM32, CYP24A1, FERMT1, RFXANK, IQCB1, BPGM, JAM3, CFB, CEP83, VPS33B, LARS, TTR, SLX4, CACNA1G, NARS2, REN, CFHR3, SMARCA2, TTC21B, GNRH1, AHSG, COL4A1, INF2, VWF, PEX19, MECP2, HPRT1, ATPAF2, EMP2, DOK7, FA2H, CTLA4, ANKLE2, MYO5B, CEP164, PYGM, TMEM5, BBS10, SLC3A1, SIX1, TCTN1, C1QA, FBLN5, PRKDC, WNT5A, TRNT1, RMND1, DTNBP1, CFI, C5orf42, SEC63, PIEZO1, TMEM138, CEP120, HMGA2, FOXL2, POMT1, NUP93, MAGEL2, JAG1, SLC37A4, ATP7B, HCCS, MUSK, WDR34, TFAP2A, CFHR1, CHRM3, DSTYK, FLNA, DNAJC13, PSAP, MCM9, RAB23, COQ2, MAMLD1, HFE, BMPR1B, HSD17B4, DHCR7, OAS1, CEP41, ATM, GLB1, SPG11, HFM1, NLRP3, POLR3A, BICC1, INSR, KIAA0196, SCN9A, EIF2B3, PITX2, AP5Z1, ZNF592, GLUD2, AGXT, CDKN1B, GLA, FAM20A, BBS4, TACO1, RET, ARX, PNP, PC, FGF20, HACE1, GJA1, ATXN8OS, KCNC3, NHP2, MYH11, ARNT2, NOTCH2, DNAL1, CKAP2L, PCK2, PIK3R1, HPS1, COX10, PORCN, CACNA1D, FTO



GO terms for Biological Process
GO terms for Molecular Function
GO terms for Cellular Component
KEGG pathways
REACTOME pathways