TaoMedAI/RareMedData huggingface dataset:
Gene: PYCR2
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: KRT83
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 (OMIM:617756)
Association type: MENDELIAN
Gene: KRT83
Disease:  (OMIM:621170)
Association type: MENDELIAN
Gene: KRT83
Disease: Progressive symmetric erythrokeratodermia; Darier-Gottron disease; Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia, Gottron type (ORPHA:316)
Association type: UNKNOWN
Gene: KRT83
Disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Association type: UNKNOWN
Gene: SOX9
Disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Association type: MENDELIAN
Gene: SOX9
Disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Association type: MENDELIAN
Gene: SOX9
Disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Association type: MENDELIAN
Gene: SOX9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SOX9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SOX9
Disease: 46,XX testicular difference of sex development; 46,XX testicular DSD; 46,XX testicular disorder of sex development; De la Chapelle syndrome; XX, male syndrome (ORPHA:393)
Association type: UNKNOWN
Gene: SOX9
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: SOX9
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: SOX9
Disease: Campomelic dysplasia; Campomelic dwarfism (ORPHA:140)
Association type: UNKNOWN
Gene: SOX9
Disease: Isolated Pierre Robin sequence; PRS (ORPHA:718)
Association type: UNKNOWN
Gene: SOX9
Disease: 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD; 46,XX ovotesticular disorder of sex development (ORPHA:2138)
Association type: UNKNOWN
Gene: BPTF
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES (OMIM:617755)
Association type: MENDELIAN
Gene: BPTF
Disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Association type: POLYGENIC
Gene: BPTF
Disease: BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome; BPTF-related NEDDFL; BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (ORPHA:686482)
Association type: UNKNOWN
Gene: BPTF
Disease: 17q24.2 microdeletion syndrome; Del(17)(q24) (ORPHA:529962)
Association type: UNKNOWN
Gene: SUFU
Disease: JOUBERT SYNDROME 32 (OMIM:617757)
Association type: MENDELIAN
Gene: SUFU
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Association type: POLYGENIC
Gene: SUFU
Disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Association type: MENDELIAN
Gene: SUFU
Disease: MEDULLOBLASTOMA (OMIM:155255)
Association type: POLYGENIC
Gene: SUFU
Disease: Gorlin syndrome; Basal cell nevus syndrome; Gorlin-Goltz syndrome; NBCCS; Nevoid basal cell carcinoma syndrome (ORPHA:377)
Association type: UNKNOWN
Gene: SUFU
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: SUFU
Disease: Medulloblastoma with extensive nodularity; MBEN (ORPHA:251858)
Association type: UNKNOWN
Gene: SUFU
Disease: Desmoplastic/nodular medulloblastoma (ORPHA:251863)
Association type: UNKNOWN
Gene: SUFU
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: SUFU
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: SUFU
Disease: Familial multiple meningioma (ORPHA:263662)
Association type: UNKNOWN
Gene: NHS
Disease: CATARACT 40 (OMIM:302200)
Association type: MENDELIAN
Gene: NHS
Disease: NANCE-HORAN SYNDROME (OMIM:302350)
Association type: MENDELIAN
Gene: NHS
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: NHS
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: NHS
Disease: Nance-Horan syndrome (ORPHA:627)
Association type: UNKNOWN
Gene: CHST3
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Association type: MENDELIAN
Gene: CHST3
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: CHST3
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: CHST3
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: CHST3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CHST3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CHST3
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: CHST3
Disease: CHST3-related skeletal dysplasia; Chondrodysplasia with congenital joint dislocations, CHST3 type; SDCD, CHST3 type; Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type (ORPHA:263463)
Association type: UNKNOWN
Gene: B3GAT3
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
Association type: MENDELIAN
Gene: B3GAT3
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: B3GAT3
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: B3GAT3
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: B3GAT3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: B3GAT3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: B3GAT3
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: B3GAT3
Disease: Larsen-like syndrome, B3GAT3 type; Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome (ORPHA:284139)
Association type: UNKNOWN
Gene: EXOSC2
Disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES (OMIM:617763)
Association type: MENDELIAN
Gene: EXOSC2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: EXOSC2
Disease: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome; Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome (ORPHA:494439)
Association type: UNKNOWN
Gene: ACER3
Disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Association type: MENDELIAN
Gene: ACER3
Disease: Alkaline ceramidase 3 deficiency; ACER3-related early childhood-onset progressive leukodystrophy; Leukodystrophy due to alkaline ceramidase 3 deficiency (ORPHA:502444)
Association type: UNKNOWN
Gene: CEP120
Disease: JOUBERT SYNDROME 31 (OMIM:617761)
Association type: MENDELIAN
Gene: CEP120
Disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Association type: MENDELIAN
Gene: CEP120
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CEP120
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CEP120
Disease: Joubert syndrome with ocular defect; JS-O; Joubert syndrome with retinopathy (ORPHA:220493)
Association type: UNKNOWN
Gene: CEP120
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: CEP120
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: MARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)
Association type: MENDELIAN
Gene: MARS2
Disease: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE (OMIM:611390)
Association type: MENDELIAN
Gene: MARS2
Disease: Combined oxidative phosphorylation defect type 25; COXPD25 (ORPHA:447954)
Association type: UNKNOWN
Gene: MARS2
Disease: Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL; Autosomal recessive spastic ataxia type 3; SPAX3 (ORPHA:314603)
Association type: UNKNOWN
Gene: MAP3K20
Disease: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION (OMIM:617760)
Association type: MENDELIAN
Gene: MAP3K20
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY (OMIM:616890)
Association type: MENDELIAN
Gene: MAP3K20
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MAP3K20
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MAP3K20
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: MAP3K20
Disease: Split-foot malformation-mesoaxial polydactyly syndrome; SFMMP; Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome (ORPHA:488232)
Association type: UNKNOWN
Gene: PIBF1
Disease: JOUBERT SYNDROME 33 (OMIM:617767)
Association type: MENDELIAN
Gene: PIBF1
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: RELN
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 (OMIM:616436)
Association type: POLYGENIC
Gene: RELN
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RELN
Disease: LISSENCEPHALY 2 (OMIM:257320)
Association type: MENDELIAN
Gene: RELN
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Association type: MENDELIAN
Gene: RELN
Disease: Autosomal dominant epilepsy with auditory features; ADEAF; ADLTE; ADPEAF; Autosomal dominant lateral temporal lobe epilepsy; Partial epilepsy with auditory aura; Partial epilepsy with auditory features (ORPHA:101046)
Association type: UNKNOWN
Gene: RELN
Disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Association type: UNKNOWN
Gene: UBE2T
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP T (OMIM:616435)
Association type: MENDELIAN
Gene: UBE2T
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: IRF2BP2
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 14 (OMIM:617765)
Association type: MENDELIAN
Gene: IRF2BP2
Disease:  (ORPHA:696904)
Association type: UNKNOWN
Gene: IRF2BP2
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: UMPS
Disease: OROTIC ACIDURIA (OMIM:258900)
Association type: MENDELIAN
Gene: UMPS
Disease: Hereditary orotic aciduria; Orotidylic decarboxylase deficiency; Uridine monophosphate synthetase deficiency (ORPHA:30)
Association type: UNKNOWN
Gene: DOCK2
Disease: IMMUNODEFICIENCY 40 (OMIM:616433)
Association type: MENDELIAN
Gene: DOCK2
Disease: Combined immunodeficiency due to DOCK2 deficiency; CID due to DOCK2 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency (ORPHA:447737)
Association type: UNKNOWN
Gene: TBK1
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Association type: MENDELIAN
Gene: TBK1
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 (OMIM:617900)
Association type: POLYGENIC
Gene: TBK1
Disease:  (OMIM:620880)
Association type: MENDELIAN
Gene: TBK1
Disease: Frontotemporal dementia with motor neuron disease; FTD-ALS; FTD-MND; Frontotemporal dementia with amyotrophic lateral sclerosis (ORPHA:275872)
Association type: UNKNOWN
Gene: TBK1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: TBK1
Disease: Herpes simplex virus encephalitis; HSE; HSV encephalitis; HSVE; Herpes simplex meningo-encephalitis; Herpes simplex neuroinvasion; Herpetic encephalitis (ORPHA:1930)
Association type: UNKNOWN
Gene: AKT1
Disease: COWDEN SYNDROME 6 (OMIM:615109)
Association type: MENDELIAN
Gene: AKT1
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: AKT1
Disease: PROTEUS SYNDROME (OMIM:176920)
Association type: MENDELIAN
Gene: AKT1
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: AKT1
Disease: OVARIAN CANCER (OMIM:167000)
Association type: MENDELIAN
Gene: AKT1
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: AKT1
Disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Association type: UNKNOWN
Gene: AKT1
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: FAT2
Disease: SPINOCEREBELLAR ATAXIA 45 (OMIM:617769)
Association type: MENDELIAN
Gene: FAT2
Disease: Spinocerebellar ataxia type 45; SCA45 (ORPHA:589527)
Association type: UNKNOWN
Gene: KMT2C
Disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Association type: MENDELIAN
Gene: KMT2C
Disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Association type: UNKNOWN
Gene: SQSTM1
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
Association type: MENDELIAN
Gene: SQSTM1
Disease: PAGET DISEASE OF BONE 3 (OMIM:167250)
Association type: MENDELIAN
Gene: SQSTM1
Disease: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
Association type: MENDELIAN
Gene: SQSTM1
Disease: MYOPATHY, DISTAL, WITH RIMMED VACUOLES (OMIM:617158)
Association type: MENDELIAN
Gene: SQSTM1
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: SQSTM1
Disease: Frontotemporal dementia with motor neuron disease; FTD-ALS; FTD-MND; Frontotemporal dementia with amyotrophic lateral sclerosis (ORPHA:275872)
Association type: UNKNOWN
Gene: SQSTM1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: SQSTM1
Disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Association type: UNKNOWN
Gene: KLLN
Disease: COWDEN SYNDROME 4 (OMIM:615107)
Association type: MENDELIAN
Gene: KLLN
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: KLLN
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: SOD1
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Association type: MENDELIAN
Gene: SOD1
Disease: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE (OMIM:618598)
Association type: MENDELIAN
Gene: SOD1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: PRPH
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Association type: POLYGENIC
Gene: PRPH
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: DCTN1
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Association type: POLYGENIC
Gene: DCTN1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
Association type: MENDELIAN
Gene: DCTN1
Disease: PERRY SYNDROME (OMIM:168605)
Association type: MENDELIAN
Gene: DCTN1
Disease: Distal hereditary motor neuropathy type 7; Distal spinal muscular atrophy with vocal cord paralysis; dHMN7 (ORPHA:139589)
Association type: UNKNOWN
Gene: DCTN1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: DCTN1
Disease: Perry syndrome; Parkinsonism with alveolar hypoventilation and mental depression (ORPHA:178509)
Association type: UNKNOWN
Gene: NEFH
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Association type: POLYGENIC
Gene: NEFH
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Association type: MENDELIAN
Gene: NEFH
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: SLC12A6
Disease: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (OMIM:218000)
Association type: MENDELIAN
Gene: SLC12A6
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II (OMIM:620068)
Association type: MENDELIAN
Gene: SLC12A6
Disease: Corpus callosum agenesis-neuronopathy syndrome; Andermann syndrome; Charlevoix disease (ORPHA:1496)
Association type: UNKNOWN
Gene: NPHP4
Disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Association type: MENDELIAN
Gene: NPHP4
Disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Association type: MENDELIAN
Gene: NPHP4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NPHP4
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: NPHP4
Disease: Juvenile nephronophthisis (ORPHA:93592)
Association type: UNKNOWN
Gene: PLS3
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18 (OMIM:300910)
Association type: MENDELIAN
Gene: PLS3
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: PLS3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLS3
Disease: DIAPHRAGMATIC HERNIA 5, X-LINKED (OMIM:306950)
Association type: MENDELIAN
Gene: PLS3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLS3
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: PLS3
Disease: X-linked osteoporosis with fractures (ORPHA:391330)
Association type: UNKNOWN
Gene: NCKAP1L
Disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Association type: MENDELIAN
Gene: NCKAP1L
Disease: Familial hyperinflammatory lymphoproliferative immunodeficiency; HEM1 deficiency syndrome; NCKAP1L-associated hyperinflammatory disorder (ORPHA:619953)
Association type: UNKNOWN
Gene: ATP6AP2
Disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Association type: MENDELIAN
Gene: ATP6AP2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Association type: MENDELIAN
Gene: ATP6AP2
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Association type: MENDELIAN
Gene: ATP6AP2
Disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Association type: UNKNOWN
Gene: ATP6AP2
Disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Association type: UNKNOWN
Gene: FUT3
Disease: BLOOD GROUP, LEWIS SYSTEM (OMIM:618983)
Association type: MENDELIAN
Gene: NEXMIF
Disease: MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
Association type: MENDELIAN
Gene: NEXMIF
Disease: X-linked intellectual disability, Cantagrel type (ORPHA:85277)
Association type: UNKNOWN
Gene: NEXMIF
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: CHRND
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL (OMIM:616322)
Association type: MENDELIAN
Gene: CHRND
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
Association type: MENDELIAN
Gene: CHRND
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616323)
Association type: MENDELIAN
Gene: CHRND
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Association type: MENDELIAN
Gene: CHRND
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: CHRND
Disease: Lethal multiple pterygium syndrome; Autosomal recessive lethal multiple pterygium syndrome; LMPS (ORPHA:33108)
Association type: UNKNOWN
Gene: RAPSN
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616326)
Association type: MENDELIAN
Gene: RAPSN
Disease: FETAL AKINESIA DEFORMATION SEQUENCE 2 (OMIM:618388)
Association type: MENDELIAN
Gene: RAPSN
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: RAPSN
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: RAPSN
Disease: Lethal multiple pterygium syndrome; Autosomal recessive lethal multiple pterygium syndrome; LMPS (ORPHA:33108)
Association type: UNKNOWN
Gene: MUSK
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Association type: MENDELIAN
Gene: MUSK
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Association type: MENDELIAN
Gene: MUSK
Disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Association type: MENDELIAN
Gene: MUSK
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: MUSK
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: CASK
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Association type: MENDELIAN
Gene: CASK
Disease: FG SYNDROME 4 (OMIM:300422)
Association type: MENDELIAN
Gene: CASK
Disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Association type: MENDELIAN
Gene: CASK
Disease: X-linked intellectual disability, Najm type; MICPCH; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome (ORPHA:163937)
Association type: UNKNOWN
Gene: CASK
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: CASK
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: G6PD
Disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Association type: MENDELIAN
Gene: G6PD
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: G6PD
Disease: Class I glucose-6-phosphate dehydrogenase deficiency; Class I G6PD deficiency; Severe hemolytic anemia due to G6PD deficiency (ORPHA:466026)
Association type: UNKNOWN
Gene: XPNPEP2
Disease: ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO (OMIM:300909)
Association type: POLYGENIC
Gene: XPNPEP2
Disease: Renin-angiotensin-aldosterone system-blocker-induced angioedema; ACE inhibitor-related acquired angioedema; ACEI-related acquired angioedema; Acquired angioedema with normal C1 inhibitor; Acquired angioedema with normal C1INH; RAAS-blocker-induced angioedema; RAAS-blocker-induced angioneurotic edema; RAE; Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema (ORPHA:100057)
Association type: UNKNOWN
Gene: ROR1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 108 (OMIM:617654)
Association type: MENDELIAN
Gene: ROR1
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: STAT5B
Disease: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT (OMIM:618985)
Association type: MENDELIAN
Gene: STAT5B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: STAT5B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN