TaoMedAI/RareMedData huggingface dataset:
Gene: CHKB
Disease: Megaconial congenital muscular dystrophy; Congenital megaconial myopathy; Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; Congenital muscular dystrophy with mitochondrial structural abnormalities (ORPHA:280671)
Association type: UNKNOWN
Gene: CHKB
Disease: Proximal myopathy with focal depletion of mitochondria (ORPHA:521305)
Association type: UNKNOWN
Gene: SALL1
Disease: TOWNES-BROCKS SYNDROME 1 (OMIM:107480)
Association type: MENDELIAN
Gene: SALL1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SALL1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SALL1
Disease: Townes-Brocks syndrome; Imperforate anus-hand, foot and ear anomalies syndrome; REAR syndrome; Renal-ear-anal-radial syndrome; Sensorineural deafness with imperforate anus and hypoplastic thumbs; Sensorineural hearing loss with imperforate anus and hypoplastic thumbs; TBS; Townes syndrome (ORPHA:857)
Association type: UNKNOWN
Gene: PMFBP1
Disease: SPERMATOGENIC FAILURE 31 (OMIM:618112)
Association type: MENDELIAN
Gene: PMFBP1
Disease: Male infertility due to acephalic spermatozoa; Acephalic spermatozoa syndrome (ORPHA:529970)
Association type: UNKNOWN
Gene: STX3
Disease: DIARRHEA 12, WITH MICROVILLUS ATROPHY (OMIM:619445)
Association type: MENDELIAN
Gene: STX3
Disease: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE (OMIM:619446)
Association type: MENDELIAN
Gene: STX3
Disease: Microvillus inclusion disease; Congenital microvillous atrophy; Congenital microvillus atrophy; MVID; Microvillous inclusion disease (ORPHA:2290)
Association type: UNKNOWN
Gene: TDRD9
Disease: SPERMATOGENIC FAILURE 30 (OMIM:618110)
Association type: MENDELIAN
Gene: TDRD9
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: BRWD1
Disease: CILIARY DYSKINESIA, PRIMARY, 51 (OMIM:620438)
Association type: MENDELIAN
Gene: SRRM2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Association type: MENDELIAN
Gene: SRRM2
Disease: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome (ORPHA:652487)
Association type: UNKNOWN
Gene: MYSM1
Disease: BONE MARROW FAILURE SYNDROME 4 (OMIM:618116)
Association type: MENDELIAN
Gene: MYSM1
Disease: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome; MYSM1 deficiency (ORPHA:508542)
Association type: UNKNOWN
Gene: BMP1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: BMP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BMP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BMP1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: BMP1
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Association type: MENDELIAN
Gene: BMP1
Disease: High bone mass osteogenesis imperfecta; High bone mass OI (ORPHA:314029)
Association type: UNKNOWN
Gene: BMP1
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: MESD
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: MESD
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MESD
Disease: OSTEOGENESIS IMPERFECTA, TYPE XX (OMIM:618644)
Association type: MENDELIAN
Gene: MESD
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MESD
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: MESD
Disease: Osteogenesis imperfecta type 2; Lethal osteogenesis imperfecta; OI type 2 (ORPHA:216804)
Association type: UNKNOWN
Gene: KIF5B
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: KIF5B
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: P4HB
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: P4HB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: P4HB
Disease: COLE-CARPENTER SYNDROME 1 (OMIM:112240)
Association type: MENDELIAN
Gene: P4HB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: P4HB
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: P4HB
Disease: Cole-Carpenter syndrome; Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome (ORPHA:2050)
Association type: UNKNOWN
Gene: P4HB
Disease: Osteogenesis imperfecta type 1; Adair-Dighton syndrome; Mild osteogenesis imperfecta; Non-deforming osteogenesis imperfecta; OI type 1; Van der Hoeve syndrome (ORPHA:216796)
Association type: UNKNOWN
Gene: WNT11
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: WNT11
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: SEC16B
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SEC16B
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: P3H1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: P3H1
Disease: OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Association type: MENDELIAN
Gene: P3H1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: P3H1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: P3H1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: P3H1
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: P3H1
Disease: Osteogenesis imperfecta type 2; Lethal osteogenesis imperfecta; OI type 2 (ORPHA:216804)
Association type: UNKNOWN
Gene: P4HA1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: P4HA1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: P4HA1
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: P4HA1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: IFITM5
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: IFITM5
Disease: OSTEOGENESIS IMPERFECTA, TYPE V (OMIM:610967)
Association type: MENDELIAN
Gene: IFITM5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFITM5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFITM5
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: IFITM5
Disease: Osteogenesis imperfecta type 5; OI type 5 (ORPHA:216828)
Association type: UNKNOWN
Gene: CCDC134
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: CCDC134
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CCDC134
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CCDC134
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: CCDC134
Disease: OSTEOGENESIS IMPERFECTA, TYPE XXII (OMIM:619795)
Association type: MENDELIAN
Gene: B4GALT7
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: B4GALT7
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: B4GALT7
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: B4GALT7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: B4GALT7
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 (OMIM:130070)
Association type: MENDELIAN
Gene: B4GALT7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: B4GALT7
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: B4GALT7
Disease: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome; B4GALT7-related spondylodysplastic EDS; EDS progeroid type 1; EDS with short stature and limb anomalies; spEDS-B4GALT7 (ORPHA:75496)
Association type: UNKNOWN
Gene: SGMS2
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SGMS2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SGMS2
Disease: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY (OMIM:126550)
Association type: MENDELIAN
Gene: SGMS2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SGMS2
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: SP7
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SP7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SP7
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Association type: MENDELIAN
Gene: SP7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SP7
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: SP7
Disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Association type: UNKNOWN
Gene: SP7
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: LIFR
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: LIFR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LIFR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LIFR
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: LIFR
Disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Association type: MENDELIAN
Gene: LIFR
Disease: Stüve-Wiedemann syndrome; Neonatal Schwartz-Jampel syndrome; SJS2; STWS; SWS; Schwartz-Jampel syndrome type 2; Stüve-Wiedemann dysplasia; Stüve-Wiedemann syndrome type 1 (ORPHA:3206)
Association type: UNKNOWN
Gene: CBLB
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Association type: MENDELIAN
Gene: HTT
Disease: HUNTINGTON DISEASE (OMIM:143100)
Association type: MENDELIAN
Gene: HTT
Disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Association type: MENDELIAN
Gene: HTT
Disease: Huntington disease; Huntington chorea (ORPHA:399)
Association type: UNKNOWN
Gene: HTT
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: HTT
Disease: Juvenile Huntington disease; JHD; Juvenile Huntington chorea (ORPHA:248111)
Association type: UNKNOWN
Gene: FAM20C
Disease: RAINE SYNDROME (OMIM:259775)
Association type: MENDELIAN
Gene: FAM20C
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FAM20C
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FAM20C
Disease: Osteosclerotic bone dysplasia; Raine syndrome (ORPHA:1832)
Association type: UNKNOWN
Gene: YY1AP1
Disease: GRANGE SYNDROME (OMIM:602531)
Association type: MENDELIAN
Gene: YY1AP1
Disease: Grange syndrome; Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome (ORPHA:79094)
Association type: UNKNOWN
Gene: GLI1
Disease: POLYDACTYLY, POSTAXIAL, TYPE A8 (OMIM:618123)
Association type: MENDELIAN
Gene: GLI1
Disease: POLYDACTYLY, PREAXIAL I (OMIM:174400)
Association type: MENDELIAN
Gene: GLI1
Disease: Ellis Van Creveld syndrome; Chondroectodermal dysplasia; Mesodermic dysplasia (ORPHA:289)
Association type: UNKNOWN
Gene: GLI1
Disease: Polydactyly of a biphalangeal thumb and/or hallux; PPD1; Preaxial polydactyly type 1 (ORPHA:93339)
Association type: UNKNOWN
Gene: GLI1
Disease: Postaxial polydactyly type B (ORPHA:93335)
Association type: UNKNOWN
Gene: GLI1
Disease: Postaxial polydactyly type A (ORPHA:93334)
Association type: UNKNOWN
Gene: MCM3AP
Disease: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618124)
Association type: MENDELIAN
Gene: LTBP1
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Association type: MENDELIAN
Gene: LTBP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LTBP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LTBP1
Disease: Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Association type: UNKNOWN
Gene: ATP5F1D
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 (OMIM:618120)
Association type: MENDELIAN
Gene: ATP5F1D
Disease: Isolated ATP synthase deficiency; Isolated mitochondrial respiratory chain complex V deficiency (ORPHA:254913)
Association type: UNKNOWN
Gene: NUAK2
Disease: ANENCEPHALY 2 (OMIM:619452)
Association type: MENDELIAN
Gene: RRP7A
Disease: MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:619453)
Association type: MENDELIAN
Gene: MAP3K14
Disease: IMMUNODEFICIENCY 112 (OMIM:620449)
Association type: MENDELIAN
Gene: MAP3K14
Disease: NIK deficiency; Primary immunodeficiency with multifaceted aberrant lymphoid immunity (ORPHA:447731)
Association type: UNKNOWN
Gene: GPRC5B
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 (OMIM:620447)
Association type: MENDELIAN
Gene: AQP4
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING (OMIM:620448)
Association type: MENDELIAN
Gene: TTI1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES (OMIM:620445)
Association type: MENDELIAN
Gene: STAT4
Disease: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD (OMIM:620443)
Association type: MENDELIAN
Gene: STAT4
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11 (OMIM:612253)
Association type: POLYGENIC
Gene: STAT4
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: STAT4
Disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Association type: UNKNOWN
Gene: STAT4
Disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis; Rheumatoid factor-negative polyarticular JIA (ORPHA:85408)
Association type: UNKNOWN
Gene: STAT4
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: STAT4
Disease: Pediatric systemic lupus erythematosus; SLE, pediatric onset (ORPHA:93552)
Association type: UNKNOWN
Gene: FOXI3
Disease: CRANIOFACIAL MICROSOMIA 2 (OMIM:620444)
Association type: MENDELIAN
Gene: RNF2
Disease: LUO-SCHOCH-YAMAMOTO SYNDROME (OMIM:619460)
Association type: MENDELIAN
Gene: RNF2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: BSND
Disease: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS (OMIM:602522)
Association type: MENDELIAN
Gene: BSND
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: BSND
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: HMGCL
Disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Association type: MENDELIAN
Gene: HMGCL
Disease: 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency; Hydroxymethylglutaric aciduria (ORPHA:20)
Association type: UNKNOWN
Gene: TP73
Disease: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY (OMIM:619466)
Association type: MENDELIAN
Gene: TP73
Disease: Small cell lung cancer; SCLC (ORPHA:70573)
Association type: UNKNOWN
Gene: POMGNT2
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 (OMIM:618135)
Association type: MENDELIAN
Gene: POMGNT2
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 (OMIM:614830)
Association type: MENDELIAN
Gene: POMGNT2
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: SLC41A1
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 (OMIM:619468)
Association type: MENDELIAN
Gene: SYT2
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Association type: MENDELIAN
Gene: SYT2
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Association type: MENDELIAN
Gene: SYT2
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: CARMIL2
Disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Association type: MENDELIAN
Gene: CARMIL2
Disease: Combined immunodeficiency due to CARMIL2 deficiency; Combined immunodeficiency due to RLTPR deficiency (ORPHA:542301)
Association type: UNKNOWN
Gene: GIMAP5
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Association type: MENDELIAN
Gene: LAMA2
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Association type: MENDELIAN
Gene: LAMA2
Disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Association type: MENDELIAN
Gene: LAMA2
Disease: Laminin subunit alpha 2-related congenital muscular dystrophy; CMD1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; Congenital muscular dystrophy type 1A; MDC1A; Merosin-negative congenital muscular dystrophy (ORPHA:258)
Association type: UNKNOWN
Gene: PRDM10
Disease: BIRT-HOGG-DUBE SYNDROME 2 (OMIM:620459)
Association type: MENDELIAN
Gene: PRDM10
Disease: Birt-Hogg-Dubé syndrome; Hornstein-Knickenberg syndrome (ORPHA:122)
Association type: UNKNOWN
Gene: TSPOAP1
Disease: DYSTONIA 22, ADULT-ONSET (OMIM:620456)
Association type: MENDELIAN
Gene: TSPOAP1
Disease: DYSTONIA 22, JUVENILE-ONSET (OMIM:620453)
Association type: MENDELIAN
Gene: TSPOAP1
Disease: Autosomal recessive dopa-responsive dystonia; Autosomal recessive Segawa syndrome; DYT5b; Tyrosine hydroxylase deficiency; Tyrosine hydroxylase-deficient dopa-responsive dystonia (ORPHA:101150)
Association type: UNKNOWN
Gene: HDAC9
Disease: AURICULOCONDYLAR SYNDROME 4 (OMIM:620457)
Association type: MENDELIAN
Gene: STX5
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Association type: MENDELIAN
Gene: EIF4A2
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES (OMIM:620455)
Association type: MENDELIAN
Gene: EIF4A2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TAF4
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Association type: MENDELIAN
Gene: TAF4
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TEFM
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Association type: MENDELIAN
Gene: TMEM222
Disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES (OMIM:619470)
Association type: MENDELIAN
Gene: TMEM222
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PDE1C
Disease: DEAFNESS, AUTOSOMAL DOMINANT 74 (OMIM:618140)
Association type: MENDELIAN
Gene: PDE1C
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: KIAA0753
Disease: JOUBERT SYNDROME 38 (OMIM:619476)
Association type: MENDELIAN
Gene: KIAA0753
Disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Association type: MENDELIAN
Gene: KIAA0753
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KIAA0753
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KIAA0753
Disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Association type: MENDELIAN
Gene: KIAA0753
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: KIAA0753
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: KIAA0753
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: MPZL2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 111 (OMIM:618145)
Association type: MENDELIAN
Gene: MPZL2
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: LRIF1
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Association type: MENDELIAN
Gene: DNMT3B
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC (OMIM:619478)
Association type: MENDELIAN
Gene: DNMT3B
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Association type: MENDELIAN
Gene: DNMT3B
Disease: Facioscapulohumeral dystrophy; FSH dystrophy; FSHD; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; Landouzy-Dejerine dystrophy; Landouzy-Dejerine myopathy (ORPHA:269)
Association type: UNKNOWN
Gene: DNMT3B
Disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Association type: UNKNOWN
Gene: CCNK
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES (OMIM:618147)
Association type: MENDELIAN
Gene: CCNK
Disease: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome (ORPHA:600668)
Association type: UNKNOWN