TaoMedAI/RareMedData huggingface dataset:
Gene: FLT3
Disease: Acute myeloblastic leukemia with maturation; AML M2; Acute myeloblastic leukemia M2 (ORPHA:98834)
Association type: UNKNOWN
Gene: FLT3
Disease: Acute myeloid leukemia with minimal differentiation; AML M0; Minimally differentiated acute myeloblastic leukemia (ORPHA:98832)
Association type: UNKNOWN
Gene: FLT3
Disease: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22); AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (ORPHA:98829)
Association type: UNKNOWN
Gene: FLT3
Disease: Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2); MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 (ORPHA:589534)
Association type: UNKNOWN
Gene: FLT3
Disease: Mixed phenotype acute leukemia with t(v;11q23.3); MPAL with t(v;11q23.3); KMT2A rearranged; MPAL with t(v;11q23.3); MLL rearranged (ORPHA:589595)
Association type: UNKNOWN
Gene: FLT3
Disease: Acute myeloid leukemia with t(8;21)(q22;q22) translocation; AML with t(8;21)(q22;q22) translocation (ORPHA:102724)
Association type: UNKNOWN
Gene: NUP214
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: NUP214
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 (OMIM:618426)
Association type: POLYGENIC
Gene: NUP214
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: NUP214
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: NUP214
Disease: Acute myeloid leukemia with t(6;9)(p23;q34); AML with t(6;9)(p23;q34) (ORPHA:402014)
Association type: UNKNOWN
Gene: BCR
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Association type: MENDELIAN
Gene: BCR
Disease: LEUKEMIA, CHRONIC MYELOID (OMIM:608232)
Association type: MENDELIAN
Gene: BCR
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: BCR
Disease: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); B-ALL with t(9;22)(q34.1;q11.2); BCR-ABL1-like B-ALL; Philadelphia chromosome-like B-ALL (ORPHA:585909)
Association type: UNKNOWN
Gene: BCR
Disease: Distal 22q11.2 microdeletion syndrome; Distal del(22)(q11.2); Distal monosomy 22q11.2 (ORPHA:261330)
Association type: UNKNOWN
Gene: BCR
Disease: Chronic myeloid leukemia; CML; Chronic granulocytic leukemia; Chronic myelogenous leukemia (ORPHA:521)
Association type: UNKNOWN
Gene: FOLR1
Disease: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY (OMIM:613068)
Association type: MENDELIAN
Gene: FOLR1
Disease: Neurodegenerative syndrome due to cerebral folate transport deficiency; Cerebral folate deficiency; Cerebral folate transport deficiency; Folate receptor alpha deficiency (ORPHA:217382)
Association type: UNKNOWN
Gene: PEPD
Disease: PROLIDASE DEFICIENCY (OMIM:170100)
Association type: MENDELIAN
Gene: PEPD
Disease: Prolidase deficiency; Hyperimidodipeptiduria (ORPHA:742)
Association type: UNKNOWN
Gene: MEGF10
Disease: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Association type: MENDELIAN
Gene: MEGF10
Disease: CONGENITAL MYOPATHY 10B, MILD VARIANT (OMIM:620249)
Association type: MENDELIAN
Gene: MEGF10
Disease: Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome; EMARDD (ORPHA:439212)
Association type: UNKNOWN
Gene: SCNN1G
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 (OMIM:613071)
Association type: MENDELIAN
Gene: SCNN1G
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Association type: MENDELIAN
Gene: SCNN1G
Disease: LIDDLE SYNDROME 2 (OMIM:618114)
Association type: MENDELIAN
Gene: SCNN1G
Disease: Generalized pseudohypoaldosteronism type 1; Autosomal recessive PHA1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Association type: UNKNOWN
Gene: SCNN1G
Disease: Idiopathic bronchiectasis (ORPHA:60033)
Association type: UNKNOWN
Gene: SCNN1G
Disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Association type: UNKNOWN
Gene: MMP9
Disease: METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
Association type: MENDELIAN
Gene: MMP9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MMP9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MMP9
Disease: Metaphyseal anadysplasia; Maroteaux-Verloes-Stanescu syndrome; Regressive metaphyseal dysplasia (ORPHA:1040)
Association type: UNKNOWN
Gene: RIN2
Disease: MACS SYNDROME (OMIM:613075)
Association type: MENDELIAN
Gene: RIN2
Disease: RIN2 syndrome; MACS syndrome; Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome (ORPHA:217335)
Association type: UNKNOWN
Gene: MIR96
Disease: DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
Association type: MENDELIAN
Gene: MIR96
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: GFER
Disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Association type: MENDELIAN
Gene: GFER
Disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Association type: UNKNOWN
Gene: LOXHD1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (OMIM:613079)
Association type: MENDELIAN
Gene: LOXHD1
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: RAD50
Disease: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (OMIM:613078)
Association type: MENDELIAN
Gene: RAD50
Disease: Nijmegen breakage syndrome-like disorder; Microcephaly and chromosomal instability without immunodeficiency; NBS-like disorder; NBSLD; RAD50 deficiency (ORPHA:240760)
Association type: UNKNOWN
Gene: RAD50
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: SLC2A1
Disease: DYSTONIA 9 (OMIM:601042)
Association type: MENDELIAN
Gene: SLC2A1
Disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Association type: MENDELIAN
Gene: SLC2A1
Disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Association type: MENDELIAN
Gene: SLC2A1
Disease: GLUT1 DEFICIENCY SYNDROME 1 (OMIM:606777)
Association type: MENDELIAN
Gene: SLC2A1
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 (OMIM:614847)
Association type: POLYGENIC
Gene: SLC2A1
Disease: Paroxysmal exertion-induced dyskinesia; DYT18; Dystonia 18; PED (ORPHA:98811)
Association type: UNKNOWN
Gene: SLC2A1
Disease: Epilepsy with myoclonic absences (ORPHA:86911)
Association type: UNKNOWN
Gene: SLC2A1
Disease: Myoclonic-astatic epilepsy; Doose syndrome; EMAS; Epilepsy with myoclonic-astatic seizures; Epilepsy with myoclonic-atonic seizures; MAE; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy in early childhood (ORPHA:1942)
Association type: UNKNOWN
Gene: SLC2A1
Disease: Hereditary cryohydrocytosis with reduced stomatin; CHC type 2; Hereditary cryohydrocytosis type 2; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Association type: UNKNOWN
Gene: SLC2A1
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: SLC2A1
Disease: Classic glucose transporter type 1 deficiency syndrome; Classic GLUT1 deficiency syndrome; Classic GLUT1-DS; De Vivo disease; Encephalopathy due to GLUT1 deficiency (ORPHA:71277)
Association type: UNKNOWN
Gene: SLC2A1
Disease: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; DYT9; Episodic choreoathetosis/spasticity (ORPHA:53583)
Association type: UNKNOWN
Gene: CYB5A
Disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Association type: MENDELIAN
Gene: CYB5A
Disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Association type: UNKNOWN
Gene: CYB5A
Disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Association type: UNKNOWN
Gene: CBX2
Disease: 46,XY SEX REVERSAL 5 (OMIM:613080)
Association type: MENDELIAN
Gene: CBX2
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: TLL1
Disease: ATRIAL SEPTAL DEFECT 6 (OMIM:613087)
Association type: MENDELIAN
Gene: TLL1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TLL1
Disease: Atrial septal defect, ostium primum type; ASD, ostium primum type (ORPHA:99106)
Association type: UNKNOWN
Gene: TLL1
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: KERA
Disease: CORNEA PLANA 2, AUTOSOMAL RECESSIVE (OMIM:217300)
Association type: MENDELIAN
Gene: KERA
Disease: Congenital cornea plana (ORPHA:53691)
Association type: UNKNOWN
Gene: SH2B3
Disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Association type: MENDELIAN
Gene: SH2B3
Disease: MYELOFIBROSIS (OMIM:254450)
Association type: MENDELIAN
Gene: SH2B3
Disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Association type: MENDELIAN
Gene: SH2B3
Disease: Essential thrombocythemia; ET; Essential thrombocytosis (ORPHA:3318)
Association type: UNKNOWN
Gene: SH2B3
Disease: Growth retardation-mild developmental delay-chronic hepatitis syndrome (ORPHA:391366)
Association type: UNKNOWN
Gene: EPOR
Disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Association type: MENDELIAN
Gene: EPOR
Disease: Primary familial polycythemia; Congenital erythrocytosis due to erythropoietin receptor mutation; Congenital polycythemia due to erythropoietin receptor mutation; Familial erythrocytosis; PFCP; Primary congenital erythrocytosis; Primary familial and congenital polycythemia (ORPHA:90042)
Association type: UNKNOWN
Gene: DYNC2H1
Disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Association type: MENDELIAN
Gene: DYNC2H1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: DYNC2H1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DYNC2H1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DYNC2H1
Disease: Short rib-polydactyly syndrome, Saldino-Noonan type; Short rib-polydactyly syndrome type 1 (ORPHA:93270)
Association type: UNKNOWN
Gene: DYNC2H1
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type; Short rib-polydactyly syndrome type 3 (ORPHA:93271)
Association type: UNKNOWN
Gene: DYNC2H1
Disease: Short rib-polydactyly syndrome, Majewski type; Short rib-polydactyly syndrome type 2 (ORPHA:93269)
Association type: UNKNOWN
Gene: DYNC2H1
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: CLCNKA
Disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Association type: MENDELIAN
Gene: CLCNKA
Disease: Bartter syndrome type 4; Bartter syndrome type IV; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Association type: UNKNOWN
Gene: CLCNKB
Disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:613090)
Association type: MENDELIAN
Gene: CLCNKB
Disease: BARTTER SYNDROME, TYPE 3 (OMIM:607364)
Association type: MENDELIAN
Gene: CLCNKB
Disease: Gitelman syndrome (ORPHA:358)
Association type: UNKNOWN
Gene: CLCNKB
Disease: Bartter syndrome type 4; Bartter syndrome type IV; Bartter syndrome with sensorineural deafness; Bartter syndrome with sensorineural hearing loss (ORPHA:89938)
Association type: UNKNOWN
Gene: CLCNKB
Disease: Bartter syndrome type 3; Bartter syndrome type III (ORPHA:93605)
Association type: UNKNOWN
Gene: EPHB2
Disease: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (OMIM:603688)
Association type: POLYGENIC
Gene: EPHB2
Disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Association type: MENDELIAN
Gene: EPHB2
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: PDE6C
Disease: CONE DYSTROPHY 4 (OMIM:613093)
Association type: MENDELIAN
Gene: PDE6C
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PDE6C
Disease: Progressive cone dystrophy; Cone dystrophy (ORPHA:1871)
Association type: UNKNOWN
Gene: PDE6C
Disease: Achromatopsia; ACHM; Complete or incomplete color blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; Total color blindness (ORPHA:49382)
Association type: UNKNOWN
Gene: REN
Disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Association type: MENDELIAN
Gene: REN
Disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Association type: MENDELIAN
Gene: REN
Disease: Renal tubular dysgenesis of genetic origin (ORPHA:97369)
Association type: UNKNOWN
Gene: REN
Disease: REN-related autosomal dominant tubulointerstitial kidney disease; ADTKD-REN; FJHN type 2; Familial juvenile hyperuricemic nephropathy type 2; REN-associated FJHN; REN-associated familial juvenile hyperuricemic nephropathy; REN-associated kidney disease (ORPHA:217330)
Association type: UNKNOWN
Gene: PKD2
Disease: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:613095)
Association type: MENDELIAN
Gene: PKD2
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: EPHA2
Disease: CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Association type: MENDELIAN
Gene: EPHA2
Disease: Early-onset posterior subcapsular cataract (ORPHA:441447)
Association type: UNKNOWN
Gene: EPHA2
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: EPHA2
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: EPHA2
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: MC1R
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
Association type: POLYGENIC
Gene: MC1R
Disease: INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (OMIM:613098)
Association type: MENDELIAN
Gene: MC1R
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (OMIM:266300)
Association type: POLYGENIC
Gene: MC1R
Disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Association type: POLYGENIC
Gene: MC1R
Disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Association type: UNKNOWN
Gene: MC1R
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: PSEN1
Disease: PICK DISEASE OF BRAIN (OMIM:172700)
Association type: MENDELIAN
Gene: PSEN1
Disease: ACNE INVERSA, FAMILIAL, 3 (OMIM:613737)
Association type: MENDELIAN
Gene: PSEN1
Disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Association type: MENDELIAN
Gene: PSEN1
Disease: CARDIOMYOPATHY, DILATED, 1U (OMIM:613694)
Association type: MENDELIAN
Gene: PSEN1
Disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Association type: MENDELIAN
Gene: PSEN1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: PSEN1
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: PSEN1
Disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Familial Alzheimer disease (ORPHA:1020)
Association type: UNKNOWN
Gene: PSEN1
Disease: Progressive non-fluent aphasia; Agramatic variant of PPA; Agramatic variant of primary progressive aphasia; Non-fluent variant PPA (ORPHA:100070)
Association type: UNKNOWN
Gene: PSEN1
Disease: Semantic dementia; Semantic primary progressive aphasia; Semantic variant PPA (ORPHA:100069)
Association type: UNKNOWN
Gene: MAPT
Disease: PICK DISEASE OF BRAIN (OMIM:172700)
Association type: MENDELIAN
Gene: MAPT
Disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Association type: MENDELIAN
Gene: MAPT
Disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Association type: MENDELIAN
Gene: MAPT
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: POLYGENIC
Gene: MAPT
Disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Association type: MENDELIAN
Gene: MAPT
Disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-PAGF; PSP-pure akinesia with gait freezing (ORPHA:240094)
Association type: UNKNOWN
Gene: MAPT
Disease: Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p; PSP-parkinsonism (ORPHA:240085)
Association type: UNKNOWN
Gene: MAPT
Disease: Classic progressive supranuclear palsy syndrome; Classic PSP syndrome; Richardson syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Association type: UNKNOWN
Gene: MAPT
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: MAPT
Disease: Progressive non-fluent aphasia; Agramatic variant of PPA; Agramatic variant of primary progressive aphasia; Non-fluent variant PPA (ORPHA:100070)
Association type: UNKNOWN
Gene: MAPT
Disease: Semantic dementia; Semantic primary progressive aphasia; Semantic variant PPA (ORPHA:100069)
Association type: UNKNOWN
Gene: MAPT
Disease: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; PSP-AOS; PSP-PNFA; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Association type: UNKNOWN
Gene: MAPT
Disease: Progressive supranuclear palsy-corticobasal syndrome; PSP-CBS; PSP-corticobasal syndrome (ORPHA:240103)
Association type: UNKNOWN
Gene: SALL4
Disease: IVIC SYNDROME (OMIM:147750)
Association type: MENDELIAN
Gene: SALL4
Disease: DUANE-RADIAL RAY SYNDROME (OMIM:607323)
Association type: MENDELIAN
Gene: SALL4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SALL4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SALL4
Disease: Duane retraction syndrome; DRS; DURS; Duane syndrome; Stilling-Turk-Duane syndrome (ORPHA:233)
Association type: UNKNOWN
Gene: SALL4
Disease: Okihiro syndrome due to a point mutation; Duane-radial ray syndrome due to a point mutation (ORPHA:261647)
Association type: UNKNOWN
Gene: SALL4
Disease: Okihiro syndrome due to 20q13 microdeletion; Duane-radial ray syndrome due to monosomy 20q13; Okihiro syndrome due to del(20)(q13); Okihiro syndrome due to monosomy 20q13 (ORPHA:261638)
Association type: UNKNOWN
Gene: SALL4
Disease: Acro-renal-ocular syndrome (ORPHA:959)
Association type: UNKNOWN
Gene: SALL4
Disease: IVIC syndrome; Oculo-oto-radial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia (ORPHA:2307)
Association type: UNKNOWN
Gene: PTCH1
Disease: HOLOPROSENCEPHALY 7 (OMIM:610828)
Association type: MENDELIAN
Gene: PTCH1
Disease: BASAL CELL NEVUS SYNDROME (OMIM:109400)
Association type: MENDELIAN
Gene: PTCH1
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Association type: MENDELIAN
Gene: PTCH1
Disease: Gorlin syndrome; Basal cell nevus syndrome; Gorlin-Goltz syndrome; NBCCS; Nevoid basal cell carcinoma syndrome (ORPHA:377)
Association type: UNKNOWN
Gene: PTCH1
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: PTCH1
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: PTCH1
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: PTCH1
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: PTCH1
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: PTCH1
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: PTCH1
Disease: Schilbach-Rott syndrome; BRSS; Hypotelorism-cleft palate-hypospadias syndrome (ORPHA:2353)
Association type: UNKNOWN
Gene: PTCH1
Disease: Monosomy 9q22.3 syndrome; Microdeletion 9q22.3 (ORPHA:77301)
Association type: UNKNOWN
Gene: GLI2
Disease: HOLOPROSENCEPHALY 9 (OMIM:610829)
Association type: MENDELIAN
Gene: GLI2
Disease: CULLER-JONES SYNDROME (OMIM:615849)
Association type: MENDELIAN
Gene: GLI2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GLI2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GLI2
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: GLI2
Disease: Combined pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms (ORPHA:95494)
Association type: UNKNOWN
Gene: GLI2
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: GLI2
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: GLI2
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: GLI2
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: GLI2
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: GLI2
Disease: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome; Culler-Jones syndrome (ORPHA:420584)
Association type: UNKNOWN
Gene: TBL1XR1
Disease: PIERPONT SYNDROME (OMIM:602342)
Association type: MENDELIAN
Gene: TBL1XR1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
Association type: MENDELIAN
Gene: TBL1XR1
Disease: Pierpont syndrome; Plantar lipomatosis-facial dysmorphism-developmental delay syndrome; Plantar lipomatosis-unusual facies-developmental delay syndrome (ORPHA:487825)
Association type: UNKNOWN
Gene: TBL1XR1
Disease: Acute promyelocytic leukemia; AML M3; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; APML; Acute myeloblastic leukemia 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants (ORPHA:520)
Association type: UNKNOWN
Gene: ABCB11
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Association type: MENDELIAN
Gene: ABCB11
Disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Association type: MENDELIAN
Gene: ABCB11
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Association type: MENDELIAN
Gene: ABCB11
Disease: Benign recurrent intrahepatic cholestasis type 2; BRIC type 2; BRIC2 (ORPHA:99961)
Association type: UNKNOWN
Gene: ABCB11
Disease: Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis; Recurrent intrahepatic cholestasis of pregnancy (ORPHA:69665)
Association type: UNKNOWN