TaoMedAI/RareMedData huggingface dataset:
Gene: DKC1
Disease: DYSKERATOSIS CONGENITA, X-LINKED (OMIM:305000)
Association type: MENDELIAN
Gene: DKC1
Disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Association type: UNKNOWN
Gene: DKC1
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: DOCK11
Disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Association type: MENDELIAN
Gene: DOCK11
Disease: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency; Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency (ORPHA:658946)
Association type: UNKNOWN
Gene: DOCK11
Disease: Early-onset immune dysregulation due to DOCK11 complete deficiency; Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency (ORPHA:658951)
Association type: UNKNOWN
Gene: KL
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 (OMIM:617994)
Association type: MENDELIAN
Gene: KL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KL
Disease: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome; Hypercalcemic tumoral calcinosis (ORPHA:306661)
Association type: UNKNOWN
Gene: FGF23
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 (OMIM:617993)
Association type: MENDELIAN
Gene: FGF23
Disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT (OMIM:193100)
Association type: MENDELIAN
Gene: FGF23
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGF23
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGF23
Disease: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome; Hypercalcemic tumoral calcinosis (ORPHA:306661)
Association type: UNKNOWN
Gene: FGF23
Disease: Autosomal dominant hypophosphatemic rickets; ADHR; Autosomal dominant hypophosphatemia (ORPHA:89937)
Association type: UNKNOWN
Gene: JAG1
Disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Association type: MENDELIAN
Gene: JAG1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Association type: MENDELIAN
Gene: JAG1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: JAG1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: JAG1
Disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Association type: MENDELIAN
Gene: JAG1
Disease: Alagille syndrome due to a JAG1 point mutation; Alagille-Watson syndrome due to a JAG1 point mutation; Arteriohepatic dysplasia due to a JAG1 point mutation; Syndromic bile duct paucity due to a JAG1 point mutation (ORPHA:261619)
Association type: UNKNOWN
Gene: JAG1
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: JAG1
Disease: Alagille syndrome due to 20p12 microdeletion; Alagille syndrome due to del(20)(p12); Alagille syndrome due to monosomy 20p12; Alagille-Watson syndrome due to monosomy 20p12; Arteriohepatic dysplasia due to monosomy 20p12; Syndromic bile duct paucity due to monosomy 20p12 (ORPHA:261600)
Association type: UNKNOWN
Gene: CT55
Disease: SPERMATOGENIC FAILURE, X-LINKED, 7 (OMIM:301106)
Association type: MENDELIAN
Gene: CT55
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: PHIP
Disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Association type: MENDELIAN
Gene: PHIP
Disease: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome; Chung-Jansen syndrome; DIDOD (ORPHA:589905)
Association type: UNKNOWN
Gene: SLITRK2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 (OMIM:301107)
Association type: MENDELIAN
Gene: WEE2
Disease: OOCYTE MATURATION DEFECT 5 (OMIM:617996)
Association type: MENDELIAN
Gene: WEE2
Disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Association type: UNKNOWN
Gene: IMPDH2
Disease: IMPDH2 ENZYME ACTIVITY, VARIATION IN (OMIM:617995)
Association type: MENDELIAN
Gene: IMPDH2
Disease: Autosomal dominant dopa-responsive dystonia; Autosomal dominant Segawa syndrome; DYT5a; GTPCH1-deficient DRD; GTPCH1-deficient dopa-responsive dystonia; HPD with marked diurnal fluctuation; Hereditary progressive dystonia with marked diurnal fluctuation (ORPHA:98808)
Association type: UNKNOWN
Gene: BANF1
Disease: NESTOR-GUILLERMO PROGERIA SYNDROME (OMIM:614008)
Association type: MENDELIAN
Gene: BANF1
Disease: Nestor-Guillermo progeria syndrome; NGPS (ORPHA:280576)
Association type: UNKNOWN
Gene: TBXA2R
Disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO (OMIM:614009)
Association type: POLYGENIC
Gene: TBXA2R
Disease: Bleeding diathesis due to thromboxane synthesis deficiency (ORPHA:220443)
Association type: UNKNOWN
Gene: ASB10
Disease: GLAUCOMA 1, OPEN ANGLE, F (OMIM:603383)
Association type: MENDELIAN
Gene: GCDH
Disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Association type: MENDELIAN
Gene: GCDH
Disease: Glutaryl-CoA dehydrogenase deficiency; GA1; GCDHD; Glutaric acidemia type 1; Glutaric aciduria type 1; Glutaryl-coenzyme A dehydrogenase deficiency (ORPHA:25)
Association type: UNKNOWN
Gene: ZMYM3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Association type: MENDELIAN
Gene: SPIN4
Disease: LUI-JEE-BARON SYNDROME (OMIM:301114)
Association type: MENDELIAN
Gene: C1GALT1C1
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Association type: MENDELIAN
Gene: C1GALT1C1
Disease: TN POLYAGGLUTINATION SYNDROME (OMIM:300622)
Association type: MENDELIAN
Gene: CYLC1
Disease: SPERMATOGENIC FAILURE, X-LINKED, 8 (OMIM:301119)
Association type: POLYGENIC
Gene: SMAD9
Disease: PULMONARY HYPERTENSION, PRIMARY, 2 (OMIM:615342)
Association type: MENDELIAN
Gene: SMAD9
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: MCTS1
Disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Association type: MENDELIAN
Gene: CAV1
Disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Association type: MENDELIAN
Gene: CAV1
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Association type: MENDELIAN
Gene: CAV1
Disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Association type: MENDELIAN
Gene: CAV1
Disease: Limited cutaneous systemic sclerosis; Limited cutaneous systemic scleroderma (ORPHA:220402)
Association type: UNKNOWN
Gene: CAV1
Disease: Diffuse cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis (ORPHA:220393)
Association type: UNKNOWN
Gene: CAV1
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: CAV1
Disease:  (ORPHA:696206)
Association type: UNKNOWN
Gene: CSTF2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 (OMIM:301116)
Association type: MENDELIAN
Gene: CARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 (OMIM:616672)
Association type: MENDELIAN
Gene: CARS2
Disease: Combined oxidative phosphorylation defect type 27; COXPD27 (ORPHA:477774)
Association type: UNKNOWN
Gene: ZFX
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37 (OMIM:301118)
Association type: MENDELIAN
Gene: KCNK3
Disease: PULMONARY HYPERTENSION, PRIMARY, 4 (OMIM:615344)
Association type: MENDELIAN
Gene: KCNK3
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: NDE1
Disease: LISSENCEPHALY 4 (OMIM:614019)
Association type: MENDELIAN
Gene: NDE1
Disease: MICROHYDRANENCEPHALY (OMIM:605013)
Association type: MENDELIAN
Gene: NDE1
Disease: Lissencephaly syndrome, Norman-Roberts type; Microlissencephaly type A (ORPHA:89844)
Association type: UNKNOWN
Gene: NDE1
Disease: NDE1-related microhydranencephaly; MHAC (ORPHA:443162)
Association type: UNKNOWN
Gene: NDE1
Disease: Hydranencephaly (ORPHA:2177)
Association type: UNKNOWN
Gene: KLHL40
Disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Association type: MENDELIAN
Gene: KLHL40
Disease: Severe congenital nemaline myopathy (ORPHA:171430)
Association type: UNKNOWN
Gene: DNAL1
Disease: CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
Association type: MENDELIAN
Gene: DNAL1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ETFDH
Disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Association type: MENDELIAN
Gene: ETFDH
Disease: Multiple acyl-CoA dehydrogenase deficiency, mild type; Glutaric aciduria type 2, mild type; MAD deficiency, mild type; MADD, mild type (ORPHA:394532)
Association type: UNKNOWN
Gene: ETFDH
Disease: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type; Glutaric aciduria type 2, severe neonatal type; MAD deficiency, severe neonatal type; MADD, severe neonatal type (ORPHA:394529)
Association type: UNKNOWN
Gene: ETFA
Disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Association type: MENDELIAN
Gene: ETFA
Disease: Multiple acyl-CoA dehydrogenase deficiency, mild type; Glutaric aciduria type 2, mild type; MAD deficiency, mild type; MADD, mild type (ORPHA:394532)
Association type: UNKNOWN
Gene: ETFA
Disease: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type; Glutaric aciduria type 2, severe neonatal type; MAD deficiency, severe neonatal type; MADD, severe neonatal type (ORPHA:394529)
Association type: UNKNOWN
Gene: ETFB
Disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Association type: MENDELIAN
Gene: ETFB
Disease: Multiple acyl-CoA dehydrogenase deficiency, mild type; Glutaric aciduria type 2, mild type; MAD deficiency, mild type; MADD, mild type (ORPHA:394532)
Association type: UNKNOWN
Gene: ETFB
Disease: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type; Glutaric aciduria type 2, severe neonatal type; MAD deficiency, severe neonatal type; MADD, severe neonatal type (ORPHA:394529)
Association type: UNKNOWN
Gene: DOK7
Disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Association type: MENDELIAN
Gene: DOK7
Disease: FETAL AKINESIA DEFORMATION SEQUENCE 3 (OMIM:618389)
Association type: MENDELIAN
Gene: DOK7
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: DOK7
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: GALE
Disease: GALACTOSEMIA III (OMIM:230350)
Association type: MENDELIAN
Gene: GALE
Disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Association type: MENDELIAN
Gene: GALE
Disease: Generalized galactose epimerase deficiency; Generalized GALE deficiency; Generalized GALE-D; Generalized UDP-galactose-4-epimerase deficiency; Generalized epimerase deficiency galactosemia; Generalized uridine diphosphate galactose-4-epimerase deficiency (ORPHA:308487)
Association type: UNKNOWN
Gene: GALE
Disease: Erythrocyte galactose epimerase deficiency; Erythrocyte GALE deficiency; Erythrocyte GALE-D; Erythrocyte UDP-galactose-4-epimerase deficiency; Erythrocyte epimerase deficiency galactosemia; Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (ORPHA:308473)
Association type: UNKNOWN
Gene: CHRNA1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Association type: MENDELIAN
Gene: CHRNA1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Association type: MENDELIAN
Gene: CHRNA1
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Association type: MENDELIAN
Gene: CHRNA1
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: CHRNA1
Disease: Lethal multiple pterygium syndrome; Autosomal recessive lethal multiple pterygium syndrome; LMPS (ORPHA:33108)
Association type: UNKNOWN
Gene: CRYGD
Disease: CATARACT 4, MULTIPLE TYPES (OMIM:115700)
Association type: MENDELIAN
Gene: CRYGD
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: CRYGD
Disease: Coralliform cataract (ORPHA:98990)
Association type: UNKNOWN
Gene: CRYGD
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYGD
Disease: Cerulean cataract; Blue-dot cataract (ORPHA:98989)
Association type: UNKNOWN
Gene: CRYGD
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: CRYGD
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: CFAP52
Disease: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619607)
Association type: MENDELIAN
Gene: CFAP52
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: CFAP45
Disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Association type: MENDELIAN
Gene: CFAP45
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GON7
Disease: GALLOWAY-MOWAT SYNDROME 9 (OMIM:619603)
Association type: MENDELIAN
Gene: GON7
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: ERCC8
Disease: COCKAYNE SYNDROME A (OMIM:216400)
Association type: MENDELIAN
Gene: ERCC8
Disease: UV-SENSITIVE SYNDROME 2 (OMIM:614621)
Association type: MENDELIAN
Gene: ERCC8
Disease: UV-sensitive syndrome (ORPHA:178338)
Association type: UNKNOWN
Gene: ERCC8
Disease: Cockayne syndrome type 3; Cockayne syndrome type III (ORPHA:90324)
Association type: UNKNOWN
Gene: ERCC8
Disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Association type: UNKNOWN
Gene: ERCC8
Disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Association type: UNKNOWN
Gene: YRDC
Disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Association type: MENDELIAN
Gene: YRDC
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: EDA
Disease: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (OMIM:305100)
Association type: MENDELIAN
Gene: EDA
Disease: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 (OMIM:313500)
Association type: MENDELIAN
Gene: EDA
Disease: X-linked hypohidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED (ORPHA:181)
Association type: UNKNOWN
Gene: EDA
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: SFTPA1
Disease: INTERSTITIAL LUNG DISEASE 1 (OMIM:619611)
Association type: MENDELIAN
Gene: SFTPA1
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: AFG2B
Disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Association type: MENDELIAN
Gene: AFG2B
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Association type: MENDELIAN
Gene: AFG2B
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: AFG2B
Disease: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome; Neurodevelopmental disorder with hearing loss and spastic quadriplegia; Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome; Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome (ORPHA:659975)
Association type: UNKNOWN
Gene: SLC19A1
Disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Association type: MENDELIAN
Gene: SLC19A1
Disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Association type: MENDELIAN
Gene: TOMM7
Disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Association type: MENDELIAN
Gene: HKDC1
Disease: RETINITIS PIGMENTOSA 92 (OMIM:619614)
Association type: MENDELIAN
Gene: PEX7
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Association type: MENDELIAN
Gene: PEX7
Disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Association type: MENDELIAN
Gene: PEX7
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PEX7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PEX7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PEX7
Disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Association type: MENDELIAN
Gene: PEX7
Disease: Rhizomelic chondrodysplasia punctata type 1 (ORPHA:309789)
Association type: UNKNOWN
Gene: PEX7
Disease: Refsum disease; Adult Refsum disease; Classic Refsum disease; HMSN 4; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Heredopathia atactica polyneuritiformis; Phytanic-CoA hydroxylase deficiency (ORPHA:773)
Association type: UNKNOWN
Gene: CYP2D6
Disease: DRUG METABOLISM, POOR, CYP2D6-RELATED (OMIM:608902)
Association type: POLYGENIC
Gene: RRAGC
Disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Association type: MENDELIAN
Gene: ABCA7
Disease: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO (OMIM:608907)
Association type: POLYGENIC
Gene: ABCA7
Disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Familial Alzheimer disease (ORPHA:1020)
Association type: UNKNOWN
Gene: CHEK1
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21 (OMIM:620610)
Association type: MENDELIAN
Gene: TBX21
Disease: IMMUNODEFICIENCY 88 (OMIM:619630)
Association type: MENDELIAN
Gene: TBX21
Disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Association type: MENDELIAN
Gene: DNAH9
Disease: CILIARY DYSKINESIA, PRIMARY, 40 (OMIM:618300)
Association type: MENDELIAN
Gene: DNAH9
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: DNAH9
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: DNAH9
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: CARD10
Disease: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY (OMIM:619632)
Association type: MENDELIAN
Gene: TRMT1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 (OMIM:618302)
Association type: MENDELIAN
Gene: TRMT1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PRKG2
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE (OMIM:619638)
Association type: MENDELIAN
Gene: PRKG2
Disease: ACROMESOMELIC DYSPLASIA 4 (OMIM:619636)
Association type: MENDELIAN
Gene: PRKG2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PRKG2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RHOH
Disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 (OMIM:618307)
Association type: MENDELIAN
Gene: RHOH
Disease: T-cell immunodeficiency with epidermodysplasia verruciformis; T-cell immunodeficiency due to RHOH deficiency (ORPHA:324294)
Association type: UNKNOWN
Gene: UBE4A
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY (OMIM:619639)
Association type: MENDELIAN
Gene: UBE4A
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: IL7
Disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 (OMIM:618309)
Association type: MENDELIAN
Gene: IL7
Disease: Inherited epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome; Lutz-Lewandowsky epidermodysplasia verruciformis (ORPHA:302)
Association type: UNKNOWN
Gene: SMN1
Disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Association type: MENDELIAN
Gene: SMN1
Disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Association type: MENDELIAN
Gene: SMN1
Disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Association type: MENDELIAN
Gene: SMN1
Disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Association type: MENDELIAN
Gene: SMN1
Disease: Proximal spinal muscular atrophy type 4; SMA type 4; SMA type IV; SMA-IV; SMA4; Spinal muscular atrophy, adult form (ORPHA:83420)
Association type: UNKNOWN
Gene: SMN1
Disease: Proximal spinal muscular atrophy type 2; Intermediate spinal muscular atrophy; SMA type 2; SMA type II; SMA-II; SMA2 (ORPHA:83418)
Association type: UNKNOWN
Gene: SMN1
Disease: Proximal spinal muscular atrophy type 3; Juvenile spinal muscular atrophy; Kugelberg-Welander disease; SMA type 3; SMA type III; SMA-III; SMA3 (ORPHA:83419)
Association type: UNKNOWN
Gene: SMN1
Disease: Proximal spinal muscular atrophy type 1; Infantile spinal muscular atrophy; Infantile-onset spinal muscular atrophy; SMA type 1; SMA type I; SMA-I; SMA1; Werdnig-Hoffmann disease (ORPHA:83330)
Association type: UNKNOWN
Gene: SMN2
Disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Association type: POLYGENIC
Gene: SMN2
Disease: Proximal spinal muscular atrophy type 4; SMA type 4; SMA type IV; SMA-IV; SMA4; Spinal muscular atrophy, adult form (ORPHA:83420)
Association type: UNKNOWN
Gene: SMN2
Disease: Proximal spinal muscular atrophy type 2; Intermediate spinal muscular atrophy; SMA type 2; SMA type II; SMA-II; SMA2 (ORPHA:83418)
Association type: UNKNOWN
Gene: SMN2
Disease: Proximal spinal muscular atrophy type 3; Juvenile spinal muscular atrophy; Kugelberg-Welander disease; SMA type 3; SMA type III; SMA-III; SMA3 (ORPHA:83419)
Association type: UNKNOWN
Gene: SMN2
Disease: Proximal spinal muscular atrophy type 1; Infantile spinal muscular atrophy; Infantile-onset spinal muscular atrophy; SMA type 1; SMA type I; SMA-I; SMA1; Werdnig-Hoffmann disease (ORPHA:83330)
Association type: UNKNOWN
Gene: IGHM
Disease: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE (OMIM:601495)
Association type: MENDELIAN
Gene: IGHM
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: MYRF
Disease: NANOPHTHALMOS 1 (OMIM:600165)
Association type: MENDELIAN
Gene: MYRF
Disease: CARDIAC-UROGENITAL SYNDROME (OMIM:618280)
Association type: MENDELIAN
Gene: MYRF
Disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION (OMIM:618113)
Association type: MENDELIAN
Gene: MYRF
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: MYRF
Disease: Cardiac-urogenital syndrome; MYRF-related cardiac urogenital syndrome (ORPHA:647811)
Association type: UNKNOWN
Gene: BCAS3
Disease: HENGEL-MAROOFIAN-SCHOLS SYNDROME (OMIM:619641)
Association type: MENDELIAN
Gene: BCAS3
Disease:  (ORPHA:697067)
Association type: UNKNOWN
Gene: RPL18
Disease: DIAMOND-BLACKFAN ANEMIA 18 (OMIM:618310)
Association type: MENDELIAN
Gene: RPL18
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: ASTL
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11 (OMIM:619643)
Association type: MENDELIAN
Gene: RPL35
Disease: DIAMOND-BLACKFAN ANEMIA 19 (OMIM:618312)
Association type: MENDELIAN
Gene: RPL35
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN