TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR3
Disease: Lacrimoauriculodentodigital syndrome; LADD syndrome; LARD syndrome; Lacrimoauriculoradiodental syndrome; Levy-Hollister syndrome (ORPHA:2363)
Association type: UNKNOWN
Gene: FGFR3
Disease: Hypochondroplasia (ORPHA:429)
Association type: UNKNOWN
Gene: FGFR3
Disease: Camptodactyly-tall stature-scoliosis-hearing loss syndrome; CATSHL syndrome; Camptodactyly-tall stature-scoliosis-deafness syndrome (ORPHA:85164)
Association type: UNKNOWN
Gene: FGFR3
Disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; SADDAN (ORPHA:85165)
Association type: UNKNOWN
Gene: VLDLR
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Association type: MENDELIAN
Gene: VLDLR
Disease: Dysequilibrium syndrome; CAMRQ syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; Non-progressive cerebellar ataxia-intellectual disability syndrome; UTS; Uner Tan syndrome (ORPHA:1766)
Association type: UNKNOWN
Gene: KLHDC8B
Disease: LYMPHOMA, HODGKIN, CLASSIC (OMIM:236000)
Association type: POLYGENIC
Gene: KLHDC8B
Disease: Classic Hodgkin lymphoma, nodular sclerosis type (ORPHA:98843)
Association type: UNKNOWN
Gene: MT-ATP6
Disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Association type: MENDELIAN
Gene: MT-ATP6
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-ATP6
Disease: Familial infantile bilateral striatal necrosis; Familial IBSN; Familial infantile striatonigral degeneration; Familial infantile striatonigral necrosis (ORPHA:225154)
Association type: UNKNOWN
Gene: MT-ATP6
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-ATP6
Disease: MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG; Maternally-inherited spastic paraplegia (ORPHA:320360)
Association type: UNKNOWN
Gene: MT-ATP6
Disease: NARP syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; Neuropathy-ataxia-retinitis pigmentosa syndrome (ORPHA:644)
Association type: UNKNOWN
Gene: MT-ATP6
Disease: Isolated ATP synthase deficiency; Isolated mitochondrial respiratory chain complex V deficiency (ORPHA:254913)
Association type: UNKNOWN
Gene: MT-ATP6
Disease: Periodic paralysis with later-onset distal motor neuropathy (ORPHA:397750)
Association type: UNKNOWN
Gene: MT-ATP6
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: PRNP
Disease: HUNTINGTON DISEASE-LIKE 1 (OMIM:603218)
Association type: MENDELIAN
Gene: PRNP
Disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Association type: MENDELIAN
Gene: PRNP
Disease: FATAL FAMILIAL INSOMNIA (OMIM:600072)
Association type: MENDELIAN
Gene: PRNP
Disease: KURU, SUSCEPTIBILITY TO (OMIM:245300)
Association type: POLYGENIC
Gene: PRNP
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES (OMIM:606688)
Association type: MENDELIAN
Gene: PRNP
Disease: GERSTMANN-STRAUSSLER DISEASE (OMIM:137440)
Association type: MENDELIAN
Gene: PRNP
Disease: Gerstmann-Straussler-Scheinker syndrome; Subacute spongiform encephalopathy, Gerstmann-Straussler type (ORPHA:356)
Association type: UNKNOWN
Gene: PRNP
Disease: Familial Alzheimer-like prion disease (ORPHA:280397)
Association type: UNKNOWN
Gene: PRNP
Disease: Inherited Creutzfeldt-Jakob disease; Inherited CJD (ORPHA:282166)
Association type: UNKNOWN
Gene: PRNP
Disease: Kuru (ORPHA:454745)
Association type: UNKNOWN
Gene: PRNP
Disease: Huntington disease-like 1; Early-onset prion disease with prominent psychiatric features; HDL1 (ORPHA:157941)
Association type: UNKNOWN
Gene: PRNP
Disease: PrP systemic amyloidosis; Chronic diarrhea with HSAN; Chronic diarrhea with hereditary sensory and autonomic neuropathy; Prion protein systemic amyloidosis (ORPHA:397606)
Association type: UNKNOWN
Gene: PRNP
Disease: Fatal familial insomnia; FFI (ORPHA:466)
Association type: UNKNOWN
Gene: WT1
Disease: FRASIER SYNDROME (OMIM:136680)
Association type: MENDELIAN
Gene: WT1
Disease: NEPHROTIC SYNDROME, TYPE 4 (OMIM:256370)
Association type: MENDELIAN
Gene: WT1
Disease: DENYS-DRASH SYNDROME (OMIM:194080)
Association type: MENDELIAN
Gene: WT1
Disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Association type: MENDELIAN
Gene: WT1
Disease: WILMS TUMOR 1 (OMIM:194070)
Association type: MENDELIAN
Gene: WT1
Disease: MESOTHELIOMA, MALIGNANT (OMIM:156240)
Association type: MENDELIAN
Gene: WT1
Disease: MEACHAM SYNDROME (OMIM:608978)
Association type: MENDELIAN
Gene: WT1
Disease: ANIRIDIA 1 (OMIM:106210)
Association type: MENDELIAN
Gene: WT1
Disease: Frasier syndrome (ORPHA:347)
Association type: UNKNOWN
Gene: WT1
Disease: Desmoplastic small round cell tumor; DSRCT (ORPHA:83469)
Association type: UNKNOWN
Gene: WT1
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: WT1
Disease: Denys-Drash syndrome; Drash syndrome; Wilms tumor-DSD syndrome; Wilms tumor-disorder of sex development syndrome (ORPHA:220)
Association type: UNKNOWN
Gene: WT1
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: WT1
Disease: Meacham syndrome; Meacham-Winn-Culler syndrome; Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome (ORPHA:3097)
Association type: UNKNOWN
Gene: WT1
Disease: WAGR syndrome; Del(11)(p13); Deletion 11p13; Monosomy 11p13; Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome (ORPHA:893)
Association type: UNKNOWN
Gene: WT1
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: WT1
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: PDGFRB
Disease: KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
Association type: MENDELIAN
Gene: PDGFRB
Disease:  (OMIM:621091)
Association type: MENDELIAN
Gene: PDGFRB
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
Association type: MENDELIAN
Gene: PDGFRB
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Association type: MENDELIAN
Gene: PDGFRB
Disease: MYOFIBROMATOSIS, INFANTILE, 1 (OMIM:228550)
Association type: MENDELIAN
Gene: PDGFRB
Disease: PREMATURE AGING SYNDROME, PENTTINEN TYPE (OMIM:601812)
Association type: MENDELIAN
Gene: PDGFRB
Disease: Kosaki overgrowth syndrome; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome (ORPHA:477831)
Association type: UNKNOWN
Gene: PDGFRB
Disease: Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement (ORPHA:168950)
Association type: UNKNOWN
Gene: PDGFRB
Disease: Primary hypereosinophilic syndrome; Clonal hypereosinophilic syndrome; HES-M; HES-N; Neoplastic hypereosinophilic syndrome; Primary HES (ORPHA:314950)
Association type: UNKNOWN
Gene: PDGFRB
Disease: Infantile myofibromatosis (ORPHA:2591)
Association type: UNKNOWN
Gene: PDGFRB
Disease: Chronic myeloproliferative disease, unclassifiable; CMPD-U; Undifferentiated myeloproliferative disease (ORPHA:86830)
Association type: UNKNOWN
Gene: PDGFRB
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN
Gene: PDGFRB
Disease: Acroosteolysis-keloid-like lesions-premature aging syndrome; Premature aging syndrome, Penttinen type (ORPHA:363665)
Association type: UNKNOWN
Gene: SPRY4
Disease: HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
Association type: MENDELIAN
Gene: SPRY4
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: SPRY4
Disease: Non-seminomatous germ cell tumor of testis; Non-dysgerminomatous germ cell tumor of testis; Testicular non seminomatous germ cell tumor; Testicular non-dysgerminomatous germ cell tumor (ORPHA:363494)
Association type: UNKNOWN
Gene: SPRY4
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: SPRY4
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: SMIM1
Disease: BLOOD GROUP, VEL SYSTEM (OMIM:615264)
Association type: MENDELIAN
Gene: GATA1
Disease: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED (OMIM:314050)
Association type: MENDELIAN
Gene: GATA1
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT (OMIM:159595)
Association type: MENDELIAN
Gene: GATA1
Disease: ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO (OMIM:301083)
Association type: MENDELIAN
Gene: GATA1
Disease: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
Association type: MENDELIAN
Gene: GATA1
Disease: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES (OMIM:300835)
Association type: MENDELIAN
Gene: GATA1
Disease: Acute megakaryoblastic leukemia in children with Down syndrome; Acute megakaryoblastic leukemia in children with trisomy 21; DS-AMKL in children with Down syndrome; DS-AMKL in children with trisomy 21 (ORPHA:99887)
Association type: UNKNOWN
Gene: GATA1
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: GATA1
Disease: Acute basophilic leukemia (ORPHA:86849)
Association type: UNKNOWN
Gene: GATA1
Disease: Transient myeloproliferative syndrome; TMD; Transient abnormal myelopoiesis; Transient myeloproliferative disease (ORPHA:420611)
Association type: UNKNOWN
Gene: GATA1
Disease: Thrombocytopenia with congenital dyserythropoietic anemia; Congenital dyserythropoietic anemia with thombocytopenia; X-linked congenital dyserythropoietic anemia with thrombocytopenia; XDAT (ORPHA:67044)
Association type: UNKNOWN
Gene: GATA1
Disease: Beta-thalassemia-X-linked thrombocytopenia syndrome; XLTT (ORPHA:231393)
Association type: UNKNOWN
Gene: GATA1
Disease: X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (ORPHA:363727)
Association type: UNKNOWN
Gene: GATA1
Disease: Congenital erythropoietic porphyria; CEP; Günther disease (ORPHA:79277)
Association type: UNKNOWN
Gene: DUSP6
Disease: HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
Association type: MENDELIAN
Gene: DUSP6
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: DUSP6
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: DUSP6
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: IL17RD
Disease: HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
Association type: MENDELIAN
Gene: IL17RD
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: ATP8A2
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 (OMIM:615268)
Association type: MENDELIAN
Gene: ATP8A2
Disease: Dysequilibrium syndrome; CAMRQ syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; Non-progressive cerebellar ataxia-intellectual disability syndrome; UTS; Uner Tan syndrome (ORPHA:1766)
Association type: UNKNOWN
Gene: PADI3
Disease: UNCOMBABLE HAIR SYNDROME 1 (OMIM:191480)
Association type: MENDELIAN
Gene: PADI3
Disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Association type: UNKNOWN
Gene: MGAT2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa (OMIM:212066)
Association type: MENDELIAN
Gene: MGAT2
Disease: MGAT2-CDG; CDG syndrome type IIa; CDG-IIa; CDG2A; Carbohydrate deficient glycoprotein syndrome type IIa; Congenital disorder of glycosylation type 2a; Congenital disorder of glycosylation type IIa; N-acetylglucosaminyltransferase 2 deficiency (ORPHA:79329)
Association type: UNKNOWN
Gene: PMM2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia (OMIM:212065)
Association type: MENDELIAN
Gene: PMM2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: PMM2
Disease: PMM2-CDG; CDG syndrome type Ia; CDG-Ia; CDG1A; Carbohydrate deficient glycoprotein syndrome type Ia; Congenital disorder of glycosylation type 1a; Congenital disorder of glycosylation type Ia; Phosphomannomutase 2 deficiency (ORPHA:79318)
Association type: UNKNOWN
Gene: PLD1
Disease: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
Association type: MENDELIAN
Gene: PLD1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: SOX18
Disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Association type: MENDELIAN
Gene: SOX18
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SOX18
Disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Association type: MENDELIAN
Gene: SOX18
Disease: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome (ORPHA:69735)
Association type: UNKNOWN
Gene: PKP1
Disease: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME (OMIM:604536)
Association type: MENDELIAN
Gene: PKP1
Disease: Ectodermal dysplasia-skin fragility syndrome; McGrath syndrome (ORPHA:158668)
Association type: UNKNOWN
Gene: LCA5
Disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Association type: MENDELIAN
Gene: LCA5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: LCA5
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: LCA5
Disease: Severe early-childhood-onset retinal dystrophy; EOSRD; Early-onset severe retinal dystrophy; SECORD (ORPHA:364055)
Association type: UNKNOWN
Gene: ERCC4
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
Association type: MENDELIAN
Gene: ERCC4
Disease: XFE PROGEROID SYNDROME (OMIM:610965)
Association type: MENDELIAN
Gene: ERCC4
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F (OMIM:278760)
Association type: MENDELIAN
Gene: ERCC4
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: ERCC4
Disease: Xeroderma pigmentosum-Cockayne syndrome complex; XP/CS complex (ORPHA:220295)
Association type: UNKNOWN
Gene: ERCC4
Disease: Xeroderma pigmentosum (ORPHA:910)
Association type: UNKNOWN
Gene: ERCC4
Disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Association type: UNKNOWN
Gene: NGLY1
Disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Association type: MENDELIAN
Gene: NGLY1
Disease: Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1 deficiency; NGLY1-CDDG (ORPHA:404454)
Association type: UNKNOWN
Gene: FGF17
Disease: HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA (OMIM:615270)
Association type: MENDELIAN
Gene: FGF17
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: FGF17
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: FGF17
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: FLRT3
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
Association type: MENDELIAN
Gene: FLRT3
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: LIM2
Disease: CATARACT 19, MULTIPLE TYPES (OMIM:615277)
Association type: MENDELIAN
Gene: LIM2
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: MIP
Disease: CATARACT 15, MULTIPLE TYPES (OMIM:615274)
Association type: MENDELIAN
Gene: MIP
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: MIP
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: MIP
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: MIP
Disease: Cerulean cataract; Blue-dot cataract (ORPHA:98989)
Association type: UNKNOWN
Gene: MIP
Disease: Early-onset sutural cataract; Early-onset cataract with Y-shaped suture opacities (ORPHA:98985)
Association type: UNKNOWN
Gene: MIP
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: KRAS
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278)
Association type: MENDELIAN
Gene: KRAS
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: KRAS
Disease: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN (OMIM:108010)
Association type: MENDELIAN
Gene: KRAS
Disease: PANCREATIC CANCER (OMIM:260350)
Association type: MENDELIAN
Gene: KRAS
Disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Association type: MENDELIAN
Gene: KRAS
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: KRAS
Disease: BLADDER CANCER (OMIM:109800)
Association type: MENDELIAN
Gene: KRAS
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: KRAS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KRAS
Disease: NOONAN SYNDROME 3 (OMIM:609942)
Association type: MENDELIAN
Gene: KRAS
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Association type: MENDELIAN
Gene: KRAS
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: KRAS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KRAS
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: KRAS
Disease: OCULOECTODERMAL SYNDROME (OMIM:600268)
Association type: MENDELIAN
Gene: KRAS
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: KRAS
Disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Association type: UNKNOWN
Gene: KRAS
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: KRAS
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: KRAS
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: KRAS
Disease: Juvenile myelomonocytic leukemia; JMML; Juvenile chronic myelomonocytic leukemia (ORPHA:86834)
Association type: UNKNOWN
Gene: KRAS
Disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Association type: UNKNOWN
Gene: KRAS
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: KRAS
Disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Association type: UNKNOWN
Gene: KRAS
Disease: RAS-associated autoimmune leukoproliferative disease; RALD (ORPHA:268114)
Association type: UNKNOWN
Gene: KRAS
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: KRAS
Disease: Pilomyxoid astrocytoma (ORPHA:251615)
Association type: UNKNOWN
Gene: MAP2K1
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
Association type: MENDELIAN
Gene: MAP2K1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: MAP2K1
Disease: MELORHEOSTOSIS, ISOLATED (OMIM:155950)
Association type: MENDELIAN
Gene: MAP2K1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MAP2K1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MAP2K1
Disease: NOONAN SYNDROME 1 (OMIM:163950)
Association type: MENDELIAN
Gene: MAP2K1
Disease: Langerhans cell histiocytosis; Histiocytosis X; Langerhans cell granulomatosis (ORPHA:389)
Association type: UNKNOWN
Gene: MAP2K1
Disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Association type: UNKNOWN
Gene: MT-TS1
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED (OMIM:580000)
Association type: MENDELIAN
Gene: MT-TS1
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL (OMIM:500008)
Association type: MENDELIAN
Gene: MT-TS1
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-TS1
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TS1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: MT-TS1
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: MT-TS1
Disease: Mitochondrial DNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; mtDNA-related progressive external ophthalmoplegia (ORPHA:663)
Association type: UNKNOWN
Gene: MT-TS1
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-TS1
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-TS1
Disease: Palmoplantar keratoderma-deafness syndrome; PPK-deafness syndrome; Palmoplantar hyperkeratosis-deafness syndrome; Palmoplantar hyperkeratosis-hearing loss syndrome; Palmoplantar keratoderma-hearing loss syndrome (ORPHA:2202)
Association type: UNKNOWN
Gene: TRMU
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED (OMIM:580000)
Association type: POLYGENIC
Gene: TRMU
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED (OMIM:580000)
Association type: MENDELIAN
Gene: TRMU
Disease: LIVER FAILURE, INFANTILE, TRANSIENT (OMIM:613070)
Association type: MENDELIAN
Gene: TRMU
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: TRMU
Disease: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins; Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins (ORPHA:217371)
Association type: UNKNOWN
Gene: TRMU
Disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile cytochrome C oxidase deficiency; Reversible infantile respiratory chain deficiency (ORPHA:254864)
Association type: UNKNOWN
Gene: AAGAB
Disease: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA (OMIM:148600)
Association type: MENDELIAN