TaoMedAI/RareMedData huggingface dataset:
Gene: AAGAB
Disease: Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; PPKP1 (ORPHA:79501)
Association type: UNKNOWN
Gene: COMP
Disease: PSEUDOACHONDROPLASIA (OMIM:177170)
Association type: MENDELIAN
Gene: COMP
Disease: CARPAL TUNNEL SYNDROME 2 (OMIM:619161)
Association type: MENDELIAN
Gene: COMP
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 (OMIM:132400)
Association type: MENDELIAN
Gene: COMP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COMP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COMP
Disease: Pseudoachondroplasia; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia (ORPHA:750)
Association type: UNKNOWN
Gene: COMP
Disease: Multiple epiphyseal dysplasia type 1; EDM1; MED1; Polyepiphyseal dysplasia type 1 (ORPHA:93308)
Association type: UNKNOWN
Gene: MAP2K2
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
Association type: MENDELIAN
Gene: MAP2K2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: MAP2K2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MAP2K2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MAP2K2
Disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Association type: UNKNOWN
Gene: MAP2K2
Disease: Neurofibromatosis-Noonan syndrome; NFNS; Neurofibromatosis type 1-Noonan syndrome (ORPHA:638)
Association type: UNKNOWN
Gene: SBF1
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Association type: MENDELIAN
Gene: SBF1
Disease: Charcot-Marie-Tooth disease type 4B3; CMT4B3; Charcot-Marie-Tooth disease with focally folded myelin (ORPHA:363981)
Association type: UNKNOWN
Gene: BSG
Disease: BLOOD GROUP--OK (OMIM:111380)
Association type: MENDELIAN
Gene: DARS1
Disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Association type: MENDELIAN
Gene: DARS1
Disease: Hypomyelination with brain stem and spinal cord involvement and leg spasticity; HBSL (ORPHA:363412)
Association type: UNKNOWN
Gene: KIF5C
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
Association type: MENDELIAN
Gene: B4GAT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 (OMIM:615287)
Association type: MENDELIAN
Gene: B4GAT1
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: VPS45
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE (OMIM:615285)
Association type: MENDELIAN
Gene: VPS45
Disease: Congenital neutropenia-myelofibrosis-nephromegaly syndrome; Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; VPS45 deficiency; Vacuolar sorting protein 45 deficiency (ORPHA:369852)
Association type: UNKNOWN
Gene: ADAT3
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
Association type: MENDELIAN
Gene: ADAT3
Disease: Intellectual disability-strabismus syndrome (ORPHA:363528)
Association type: UNKNOWN
Gene: TAFAZZIN
Disease: BARTH SYNDROME (OMIM:302060)
Association type: MENDELIAN
Gene: TAFAZZIN
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: TAFAZZIN
Disease: Barth syndrome; 3-methylglutaconic aciduria type 2; BTHS; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; Cardioskeletal myopathy-neutropenia syndrome; MGA2; X-linked cardioskeletal myopathy and neutropenia (ORPHA:111)
Association type: UNKNOWN
Gene: DMGDH
Disease: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY (OMIM:605850)
Association type: MENDELIAN
Gene: DMGDH
Disease: Dimethylglycine dehydrogenase deficiency; DMG dehydrogenase deficiency; DMGDH deficiency (ORPHA:243343)
Association type: UNKNOWN
Gene: DIP2B
Disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Association type: MENDELIAN
Gene: SOS1
Disease: FIBROMATOSIS, GINGIVAL, 1 (OMIM:135300)
Association type: MENDELIAN
Gene: SOS1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SOS1
Disease: NOONAN SYNDROME 4 (OMIM:610733)
Association type: MENDELIAN
Gene: SOS1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: SOS1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SOS1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SOS1
Disease: Hereditary gingival fibromatosis; Autosomal dominant gingival fibromatosis; Autosomal dominant gingival hyperplasia; Hereditary gingival hyperplasia (ORPHA:2024)
Association type: UNKNOWN
Gene: SOS1
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: CTH
Disease: CYSTATHIONINURIA (OMIM:219500)
Association type: MENDELIAN
Gene: CTH
Disease: Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome; Gamma-cystathionase deficiency (ORPHA:212)
Association type: UNKNOWN
Gene: BICD2
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT (OMIM:615290)
Association type: MENDELIAN
Gene: BICD2
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT (OMIM:618291)
Association type: MENDELIAN
Gene: BICD2
Disease: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy; BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; SMALED2 (ORPHA:363454)
Association type: UNKNOWN
Gene: CSF1R
Disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Association type: MENDELIAN
Gene: CSF1R
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CSF1R
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CSF1R
Disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Association type: MENDELIAN
Gene: CSF1R
Disease: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; ALSP; Autosomal dominant leukoencephalopathy with neuroaxonal spheroids; FPSG; Familial dementia, Neumann type; Familial progressive subcortical gliosis; GPSC; HDLS; Hereditary diffuse leukoencephalopathy with spheroids; POLD; Pigmentary orthochromatic leukodystrophy; Subcortical gliosis of Neumann (ORPHA:313808)
Association type: UNKNOWN
Gene: CSF1R
Disease: Early-onset calcifying leukoencephalopathy-skeletal dysplasia (ORPHA:556985)
Association type: UNKNOWN
Gene: DRC1
Disease: CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
Association type: MENDELIAN
Gene: DRC1
Disease: SPERMATOGENIC FAILURE 80 (OMIM:620222)
Association type: MENDELIAN
Gene: DRC1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: DRC1
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: NOTCH3
Disease: MYOFIBROMATOSIS, INFANTILE, 2 (OMIM:615293)
Association type: MENDELIAN
Gene: NOTCH3
Disease: LATERAL MENINGOCELE SYNDROME (OMIM:130720)
Association type: MENDELIAN
Gene: NOTCH3
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 (OMIM:125310)
Association type: MENDELIAN
Gene: NOTCH3
Disease: Lateral meningocele syndrome; Lehman syndrome (ORPHA:2789)
Association type: UNKNOWN
Gene: NOTCH3
Disease: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy; CADASIL; Hereditary multi-infarct dementia (ORPHA:136)
Association type: UNKNOWN
Gene: NOTCH3
Disease: Infantile myofibromatosis (ORPHA:2591)
Association type: UNKNOWN
Gene: GDF5
Disease: SYMPHALANGISM, PROXIMAL, 1B (OMIM:615298)
Association type: MENDELIAN
Gene: GDF5
Disease: BRACHYDACTYLY, TYPE A2 (OMIM:112600)
Association type: MENDELIAN
Gene: GDF5
Disease: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
Association type: MENDELIAN
Gene: GDF5
Disease: BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
Association type: MENDELIAN
Gene: GDF5
Disease: MULTIPLE SYNOSTOSES SYNDROME 2 (OMIM:610017)
Association type: MENDELIAN
Gene: GDF5
Disease: BRACHYDACTYLY, TYPE C (OMIM:113100)
Association type: MENDELIAN
Gene: GDF5
Disease: CHONDRODYSPLASIA, GREBE TYPE (OMIM:200700)
Association type: MENDELIAN
Gene: GDF5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GDF5
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 5 (OMIM:612400)
Association type: POLYGENIC
Gene: GDF5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GDF5
Disease: DU PAN SYNDROME (OMIM:228900)
Association type: MENDELIAN
Gene: GDF5
Disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Association type: UNKNOWN
Gene: GDF5
Disease: Multiple synostoses syndrome; Deafness-Hermann type symphalangism syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome; Symphalangism-brachydactyly syndrome; WL syndrome (ORPHA:3237)
Association type: UNKNOWN
Gene: GDF5
Disease: Acromesomelic dysplasia, Hunter-Thompson type; Acromesomelic dwarfism (ORPHA:968)
Association type: UNKNOWN
Gene: GDF5
Disease: Fibular aplasia-complex brachydactyly syndrome; Du Pan syndrome (ORPHA:2639)
Association type: UNKNOWN
Gene: GDF5
Disease: Angel-shaped phalango-epiphyseal dysplasia; ASPED (ORPHA:63442)
Association type: UNKNOWN
Gene: GDF5
Disease: Brachydactyly type A2; Brachydactyly, Mohr-Wriedt type (ORPHA:93396)
Association type: UNKNOWN
Gene: GDF5
Disease: Brachydactyly type C (ORPHA:93384)
Association type: UNKNOWN
Gene: GDF5
Disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Association type: UNKNOWN
Gene: GDF5
Disease: Acromesomelic dysplasia, Grebe type; Chondrodysplasia, Grebe type (ORPHA:2098)
Association type: UNKNOWN
Gene: CBLIF
Disease: INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
Association type: MENDELIAN
Gene: CBLIF
Disease: Congenital intrinsic factor deficiency; Congenital pernicious anemia; Gastric intrinsic factor deficiency; Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; IFD; Intrinsic factor deficiency (ORPHA:332)
Association type: UNKNOWN
Gene: EOGT
Disease: ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
Association type: MENDELIAN
Gene: EOGT
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EOGT
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EOGT
Disease: Adams-Oliver syndrome; AOS; Aplasia cutis congenita with distal limb anomalies; Aplasia cutis congenita with terminal transverse limb defects; Congenital scalp defects with distal limb anomalies; Congenital scalp defects with distal limb reduction anomalies (ORPHA:974)
Association type: UNKNOWN
Gene: CAV3
Disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Association type: MENDELIAN
Gene: CAV3
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Association type: MENDELIAN
Gene: CAV3
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: CAV3
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Association type: MENDELIAN
Gene: CAV3
Disease: LONG QT SYNDROME 9 (OMIM:611818)
Association type: MENDELIAN
Gene: CAV3
Disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Association type: MENDELIAN
Gene: CAV3
Disease: Rippling muscle disease (ORPHA:97238)
Association type: UNKNOWN
Gene: CAV3
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: CAV3
Disease: Distal myopathy, Tateyama type (ORPHA:488650)
Association type: UNKNOWN
Gene: CAV3
Disease: Isolated asymptomatic elevation of creatine phosphokinase; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic hyperCKemia (ORPHA:206599)
Association type: UNKNOWN
Gene: DMD
Disease: CARDIOMYOPATHY, DILATED, 3B (OMIM:302045)
Association type: MENDELIAN
Gene: DMD
Disease: MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
Association type: MENDELIAN
Gene: DMD
Disease: MUSCULAR DYSTROPHY, DUCHENNE TYPE (OMIM:310200)
Association type: MENDELIAN
Gene: DMD
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: DMD
Disease: Becker muscular dystrophy; BMD; Becker dystrophinopathy (ORPHA:98895)
Association type: UNKNOWN
Gene: DMD
Disease: Duchenne muscular dystrophy; DMD; Severe dystrophinopathy, Duchenne type (ORPHA:98896)
Association type: UNKNOWN
Gene: DMD
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: DMD
Disease: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546)
Association type: UNKNOWN
Gene: RIPK4
Disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Association type: MENDELIAN
Gene: RIPK4
Disease: CHAND SYNDROME (OMIM:214350)
Association type: MENDELIAN
Gene: RIPK4
Disease: CHAND syndrome; Baughman syndrome; CHANDS; Curly hair-ankyloblepharon-nail dysplasia syndrome (ORPHA:1401)
Association type: UNKNOWN
Gene: RIPK4
Disease: Bartsocas-Papas syndrome; Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome (ORPHA:1234)
Association type: UNKNOWN
Gene: OVOL2
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Association type: MENDELIAN
Gene: OVOL2
Disease: Posterior polymorphous corneal dystrophy; PPCD; Posterior polymorphous dystrophy; Schlichting dystrophy (ORPHA:98973)
Association type: UNKNOWN
Gene: TTN
Disease: SALIH MYOPATHY (OMIM:611705)
Association type: MENDELIAN
Gene: TTN
Disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Association type: MENDELIAN
Gene: TTN
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Association type: MENDELIAN
Gene: TTN
Disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Association type: MENDELIAN
Gene: TTN
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 (OMIM:613765)
Association type: MENDELIAN
Gene: TTN
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Association type: MENDELIAN
Gene: TTN
Disease: Early-onset myopathy with fatal cardiomyopathy; EOMFC; Salih myopathy (ORPHA:289377)
Association type: UNKNOWN
Gene: TTN
Disease: Hereditary myopathy with early respiratory failure; Edström Myopathy; HIBM-ERF; HMERF; Hereditary inclusion body myopathy with early respiratory failure; MFM-titinopathy; Myofibrillar myopathy with early respiratory failure; Myofibrillar myopathy-titinopathy (ORPHA:178464)
Association type: UNKNOWN
Gene: TTN
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: TTN
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: TTN
Disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Association type: UNKNOWN
Gene: TTN
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: TTN
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: TTN
Disease: Classic multiminicore myopathy; Classic MmD; Classic multiminicore disease (ORPHA:324604)
Association type: UNKNOWN
Gene: TTN
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: TTN
Disease: Titin-related limb-girdle muscular dystrophy R10; Autosomal recessive limb-girdle muscular dystrophy type 2J; LGMD type 2J; LGMD2J; Limb-girdle muscular dystrophy type 2J; Titin-related LGMD R10 (ORPHA:140922)
Association type: UNKNOWN
Gene: TTN
Disease: Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome (ORPHA:466921)
Association type: UNKNOWN
Gene: TTN
Disease: Tibial muscular dystrophy; Distal myopathy, Udd type; Distal titinopathy; Finnish tibial muscular dystrophy; TMD; Udd myopathy (ORPHA:609)
Association type: UNKNOWN
Gene: NRAS
Disease: NEVUS, EPIDERMAL (OMIM:162900)
Association type: MENDELIAN
Gene: NRAS
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: NRAS
Disease: MELANOSIS, NEUROCUTANEOUS (OMIM:249400)
Association type: MENDELIAN
Gene: NRAS
Disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Association type: MENDELIAN
Gene: NRAS
Disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Association type: MENDELIAN
Gene: NRAS
Disease: NOONAN SYNDROME 6 (OMIM:613224)
Association type: MENDELIAN
Gene: NRAS
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: NRAS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NRAS
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Association type: MENDELIAN
Gene: NRAS
Disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Association type: MENDELIAN
Gene: NRAS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NRAS
Disease: Langerhans cell histiocytosis; Histiocytosis X; Langerhans cell granulomatosis (ORPHA:389)
Association type: UNKNOWN
Gene: NRAS
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: NRAS
Disease: Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Nevus sebaceus syndrome; Organoid nevus syndrome; Schimmelpenning syndrome; Solomon syndrome (ORPHA:2612)
Association type: UNKNOWN
Gene: NRAS
Disease: Juvenile myelomonocytic leukemia; JMML; Juvenile chronic myelomonocytic leukemia (ORPHA:86834)
Association type: UNKNOWN
Gene: NRAS
Disease: RAS-associated autoimmune leukoproliferative disease; RALD (ORPHA:268114)
Association type: UNKNOWN
Gene: NRAS
Disease: Large/giant congenital melanocytic nevus; LGCMN; Large/giant CMN syndrome; Large/giant congenital pigmented nevus (ORPHA:626)
Association type: UNKNOWN
Gene: NRAS
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: HRAS
Disease: NEVUS, EPIDERMAL (OMIM:162900)
Association type: MENDELIAN
Gene: HRAS
Disease: COSTELLO SYNDROME (OMIM:218040)
Association type: MENDELIAN
Gene: HRAS
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: HRAS
Disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Association type: MENDELIAN
Gene: HRAS
Disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Association type: MENDELIAN
Gene: HRAS
Disease: BLADDER CANCER (OMIM:109800)
Association type: MENDELIAN
Gene: HRAS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HRAS
Disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Association type: MENDELIAN
Gene: HRAS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HRAS
Disease: Woolly hair nevus; Wooly hair nevus (ORPHA:79414)
Association type: UNKNOWN
Gene: HRAS
Disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Association type: UNKNOWN
Gene: HRAS
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: HRAS
Disease: Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Nevus sebaceus syndrome; Organoid nevus syndrome; Schimmelpenning syndrome; Solomon syndrome (ORPHA:2612)
Association type: UNKNOWN
Gene: HRAS
Disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Association type: UNKNOWN
Gene: PIK3CA
Disease: NEVUS, EPIDERMAL (OMIM:162900)
Association type: MENDELIAN
Gene: PIK3CA
Disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Association type: MENDELIAN
Gene: PIK3CA
Disease: COWDEN SYNDROME 5 (OMIM:615108)
Association type: MENDELIAN
Gene: PIK3CA
Disease: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH (OMIM:613089)
Association type: MENDELIAN
Gene: PIK3CA
Disease: KERATOSIS, SEBORRHEIC (OMIM:182000)
Association type: MENDELIAN
Gene: PIK3CA
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: PIK3CA
Disease: CEREBRAL CAVERNOUS MALFORMATIONS 4 (OMIM:619538)
Association type: MENDELIAN
Gene: PIK3CA
Disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Association type: MENDELIAN
Gene: PIK3CA
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: PIK3CA
Disease: OVARIAN CANCER (OMIM:167000)
Association type: MENDELIAN
Gene: PIK3CA
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: PIK3CA
Disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Association type: MENDELIAN
Gene: PIK3CA
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: PIK3CA
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: PIK3CA
Disease: MACRODACTYLY (OMIM:155500)
Association type: MENDELIAN
Gene: PIK3CA
Disease: Macrodactyly of toes, unilateral; Macrodactyly of foot, unilateral (ORPHA:295243)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Macrodactyly of fingers, unilateral; Macrodactyly of hand, unilateral (ORPHA:295239)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: PIK3CA
Disease: CLAPO syndrome (ORPHA:168984)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Megalencephaly-capillary malformation-polymicrogyria syndrome; MCAP; MCM; MCMTC; Macrocephaly-capillary malformation syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation syndrome; Megalencephaly-cutis marmorata telangiectatica congenita syndrome (ORPHA:60040)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Association type: UNKNOWN
Gene: PIK3CA
Disease: CLOVES syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome (ORPHA:140944)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Association type: UNKNOWN
Gene: PIK3CA
Disease: Familial cerebral cavernous malformation; Familial brain cavernous angioma; Familial cerebral cavernoma; Hereditary brain cavernous angioma; Hereditary cerebral cavernoma; Hereditary cerebral cavernous malformation (ORPHA:221061)
Association type: UNKNOWN
Gene: XYLT2
Disease: SPONDYLOOCULAR SYNDROME (OMIM:605822)
Association type: MENDELIAN
Gene: XYLT2
Disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Association type: POLYGENIC
Gene: XYLT2
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: XYLT2
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: XYLT2
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: XYLT2
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: XYLT2
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: XYLT2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN